ABSTRACT
Context and Objective:
Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly.
Design and Setting:
Population-based retrospective cohort study in a referral hospital in southern Brazil.
Method:
The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered.
Results:
Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and
these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%).
Conclusions:
Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed.
Source:
Emanuele Pelizzari et al, Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil, Sao Paolo Med J. [online]. ahead of print, pp. 00-00. Epub Mar 17, 2015. ISSN 1516-3180. DOI: 10.1590/1516-3180.2013.8012608
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mercredi 1 avril 2015
mercredi 13 août 2014
Population red blood cell folate concentrations for prevention of neural tube defects: bayesian model
Abstract
Objective
To determine an optimal population red blood cell (RBC) folate concentration for the prevention of neural tube birth defects.
Setting
Data from two population based studies in China.
Participants
247 831 participants in a prospective community intervention project in
China (1993-95) to prevent neural tube defects with 400 μg/day folic
acid supplementation and 1194 participants in a population based
randomized trial (2003-05) to evaluate the effect of folic acid
supplementation on blood folate concentration among Chinese women of
reproductive age.
Intervention
Folic acid supplementation (400 μg/day).
Main outcome measures
Estimated RBC folate concentration at time of neural tube closure (day 28 of gestation) and risk of neural tube defects.
Results
Risk of neural tube defects was high at the lowest estimated RBC folate
concentrations (for example, 25.4 (95% uncertainty interval 20.8 to
31.2) neural tube defects per 10 000 births at 500 nmol/L) and decreased
as estimated RBC folate concentration increased. Risk of neural tube
defects was substantially attenuated at estimated RBC folate
concentrations above about 1000 nmol/L (for example, 6 neural tube
defects per 10 000 births at 1180 (1050 to 1340) nmol/L). The modeled
dose-response relation was consistent with the existing literature. In
addition, neural tube defect risk estimates developed using the proposed
model and population level RBC information were consistent with the
prevalence of neural tube defects in the US population before and after
food fortification with folic acid.
Conclusions
A threshold for “optimal” population RBC folate concentration for the
prevention of neural tube defects could be defined (for example,
approximately 1000 nmol/L). Population based RBC folate concentrations,
as a biomarker for risk of neural tube defects, can be used to
facilitate evaluation of prevention programs as well as to identify
subpopulations at elevated risk for a neural tube defect affected
pregnancy due to folate insufficiency.
Extracts:
How much natural food folate and/or folic acid intake is necessary to achieve red blood cell folate concentrations in the 1000-1300 nmol/L range in any given person or population is unknown. In the Folic Acid Dosing Trial in northern China, people consuming 100 μg/day in addition to usual diet (which is relatively low in other sources of folate) did not achieve a red blood cell folate concentration of 1000 nmol/L by the end of the six month supplementation trial. Those with the CC and CT genotypes who consumed 400 μg/day reached a red blood cell folate concentration of 1000 nmol/L between three and six months of supplementation, whereas those with the TT genotype
did not achieve a geometric mean red blood cell folate concentration of 1000 nmol/L by the six month sample.
did not achieve a geometric mean red blood cell folate concentration of 1000 nmol/L by the six month sample.
Source:
Krista S Crider, et al, Population red blood cell folate concentrations for prevention of neural tube defects: bayesian model, BMJ 2014;349:g4554
Free Fulltext:
http://www.bmj.com/content/349/bmj.g4554
mercredi 14 mai 2014
Perinatal Hospice
Abstract:
When the prenatal diagnosis of a lethal fetal anomaly has been established, some patients choose to continue their pregnancy. Currently, there is a paucity of medical literature addressing the specific management of families in this unique circumstance. We propose a model of care that incorporates the strengths of prenatal diagnosis, perinatal grief management, and hospice care to address the needs of these families. We discuss the identification of candidates for this form of care; the multidisciplinary team approach; and the aspects of antepartum, intrapartum, and postpartum care. Finally, we discuss some barriers that might need to be overcome when attempting to implement perinatal hospice care.
Source:
Nathan J. Hoeldtke, Byron C. Calhoun, Perinatal Hospice, Am J Obstet Gynecol 2001;185:525-9
DOI: http://dx.doi.org/10.1067/mob.2001.116093
Free Fulltext:
http://www.aaplog.org/wp-content/uploads/2010/05/HoeldtkeCalhoun.pdf
When the prenatal diagnosis of a lethal fetal anomaly has been established, some patients choose to continue their pregnancy. Currently, there is a paucity of medical literature addressing the specific management of families in this unique circumstance. We propose a model of care that incorporates the strengths of prenatal diagnosis, perinatal grief management, and hospice care to address the needs of these families. We discuss the identification of candidates for this form of care; the multidisciplinary team approach; and the aspects of antepartum, intrapartum, and postpartum care. Finally, we discuss some barriers that might need to be overcome when attempting to implement perinatal hospice care.
Source:
Nathan J. Hoeldtke, Byron C. Calhoun, Perinatal Hospice, Am J Obstet Gynecol 2001;185:525-9
DOI: http://dx.doi.org/10.1067/mob.2001.116093
Free Fulltext:
http://www.aaplog.org/wp-content/uploads/2010/05/HoeldtkeCalhoun.pdf
jeudi 6 février 2014
Birth Outcomes and Maternal Residential Proximity to Natural Gas Development in Rural Colorado
Abstract
Background:
Birth defects are a leading cause of neonatal mortality. Natural gas development (NGD) emits several potential teratogens and US production is expanding.
Objectives:
We examined associations between maternal residential proximity to NGD and birth outcomes in a retrospective cohort study of 124,842 births between 1996 and 2009 in rural Colorado.
Methods:
We calculated inverse distance weighted natural gas well counts within a 10-mile radius of maternal residence to estimate maternal exposure to NGD. Logistic regression, adjusted for maternal and infant covariates, was used to estimate associations with exposure tertiles for congenital heart defects (CHDs), neural tube defects (NTDs), oral clefts, preterm birth, and term low birth weight. The Association with term birth weight was investigated using multiple linear regression.
Results:
Prevalence of CHDs increased with exposure tertile, with an odds ratio (OR) of 1.3 for the highest tertile (95% CI: 1.2, 1.5) and NTD prevalence was associated with the highest tertile of exposure (OR = 2.0, 95% CI: 1.0, 3.9, based on 59 cases), compared to no gas wells within a10-mile radius. Exposure was negatively associated with preterm birth and positively associated with fetal growth, though the magnitude of association was small. No association was foundbetween exposure and oral clefts.
Conclusions:
In this large cohort, we observed an association between density and proximity of natural gas wells within a 10-mile radius of maternal residence and prevalence of CHDs and possibly NTDs. Greater specificity in exposure estimates are needed to further explore these associations.
Journal Reference:
Lisa M. McKenzie et al, Birth Outcomes and Maternal Residential Proximity to Natural Gas Development in Rural Colorado,
mardi 28 janvier 2014
Monoamniotic Twins with One Fetal Anencephaly and Cord Entanglement Diagnosed with Three Dimensional Ultrasound at 14 Weeks of Gestation
Abstract:
A 29-year-old pregnant woman with parity 0-0-0-0 was diagnosed with monoamniotic twin pregnancy discordant for anencephaly at 14 weeks gestation. Umbilical cord entanglement, which is an important cause of fetal death in monoamniotic twins, was confirmed by three-dimensional ultrasound. Cesarean section was performed at 34 weeks of gestation, and the normal newborn infant was discharged without any complications. We report a case of monoamniotic twin pregnancy discordant for anencephaly and diagnosed with cord entanglement by three-dimensional ultrasound at 14 weeks of gestation, and now report it along with a literature review.
Journal Reference:
Jo YS, Son HJ, Jang DG, Kim N, Lee G. Monoamniotic Twins with One Fetal Anencephaly and Cord Entanglement Diagnosed with Three Dimensional Ultrasound at 14 Weeks of Gestation. Int J Med Sci 2011; 8(7):573-576. doi:10.7150/ijms.8.573.
Free Fulltext:
http://www.medsci.org/v08p0573.htm
A 29-year-old pregnant woman with parity 0-0-0-0 was diagnosed with monoamniotic twin pregnancy discordant for anencephaly at 14 weeks gestation. Umbilical cord entanglement, which is an important cause of fetal death in monoamniotic twins, was confirmed by three-dimensional ultrasound. Cesarean section was performed at 34 weeks of gestation, and the normal newborn infant was discharged without any complications. We report a case of monoamniotic twin pregnancy discordant for anencephaly and diagnosed with cord entanglement by three-dimensional ultrasound at 14 weeks of gestation, and now report it along with a literature review.
Journal Reference:
Jo YS, Son HJ, Jang DG, Kim N, Lee G. Monoamniotic Twins with One Fetal Anencephaly and Cord Entanglement Diagnosed with Three Dimensional Ultrasound at 14 Weeks of Gestation. Int J Med Sci 2011; 8(7):573-576. doi:10.7150/ijms.8.573.
Free Fulltext:
http://www.medsci.org/v08p0573.htm
jeudi 12 septembre 2013
Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature
Abstract:
Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advoated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outomes and review other previously reported cases. The first case was a primigravid woman diagnosed with MATDA at 18 weeks. She was managed expectantly until 32+5 weeks when a Cesarean section was performed
for preterm labor. The surviving female infant weighed 1610 g. The second case was a multigravid woman who was diagnosed with MATDA at 17+5 weeks and was managed as an outpatient. An emergency Cesarean section was performed at 31 weeks for non-reassuring monitoring and the surviving male infant weighed 1790 g. In both cases, the survivors were discharged home in good
condition. A review of these two cases and those in the literature suggests that expectant management should be considered among management options for this rare condition.
Journal Reference:
Lim, K. I., Dy, C., Pugash, D. and Williams, K. P. (2005), Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature. Ultrasound Obstet Gynecol, 26: 188–193. doi: 10.1002/uog.1947
Free Fulltext:
http://onlinelibrary.wiley.com/doi/10.1002/uog.1947/pdf
Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advoated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outomes and review other previously reported cases. The first case was a primigravid woman diagnosed with MATDA at 18 weeks. She was managed expectantly until 32+5 weeks when a Cesarean section was performed
for preterm labor. The surviving female infant weighed 1610 g. The second case was a multigravid woman who was diagnosed with MATDA at 17+5 weeks and was managed as an outpatient. An emergency Cesarean section was performed at 31 weeks for non-reassuring monitoring and the surviving male infant weighed 1790 g. In both cases, the survivors were discharged home in good
condition. A review of these two cases and those in the literature suggests that expectant management should be considered among management options for this rare condition.
Journal Reference:
Lim, K. I., Dy, C., Pugash, D. and Williams, K. P. (2005), Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature. Ultrasound Obstet Gynecol, 26: 188–193. doi: 10.1002/uog.1947
Free Fulltext:
http://onlinelibrary.wiley.com/doi/10.1002/uog.1947/pdf
vendredi 30 août 2013
Fatally flawed? A review and ethical analysis of lethal congenital malformations
Abstract:
Prenatally diagnosed abnormalities that are associated with death in the newborn period are often referred to as 'lethal malformations'. Yet, for many of the commonly described lethal malformations long-term survival is possible if supportive interventions are provided. In this paper we analyse and review fetal or congenital lethal abnormalities. The designation 'lethal' overlaps with the concept of 'medical futility'. The term is used for a heterogenous group of conditions, and hinders clear communication and counselling. We argue that the term should be avoided, and propose in its place a set of key questions that should be addressed by counselling.
Extracts:
"None of the malformations that are most commonly described as being lethal are actually lethal in the strict sense. Prolonged survival has been described in all of the conditions listed, with the exeption of bilateral renal agenesis."
Journal Reference:
Wilkinson D, Thiele P, Watkins A, De Crespigny L. Fatally flawed? A review and ethical analysis of lethal congenital malformations. BJOG 2012; DOI: 10.1111/j.1471-0528.2012.03450.x.
Prenatally diagnosed abnormalities that are associated with death in the newborn period are often referred to as 'lethal malformations'. Yet, for many of the commonly described lethal malformations long-term survival is possible if supportive interventions are provided. In this paper we analyse and review fetal or congenital lethal abnormalities. The designation 'lethal' overlaps with the concept of 'medical futility'. The term is used for a heterogenous group of conditions, and hinders clear communication and counselling. We argue that the term should be avoided, and propose in its place a set of key questions that should be addressed by counselling.
Extracts:
"None of the malformations that are most commonly described as being lethal are actually lethal in the strict sense. Prolonged survival has been described in all of the conditions listed, with the exeption of bilateral renal agenesis."
"
Journal Reference:
Wilkinson D, Thiele P, Watkins A, De Crespigny L. Fatally flawed? A review and ethical analysis of lethal congenital malformations. BJOG 2012; DOI: 10.1111/j.1471-0528.2012.03450.x.
lundi 19 août 2013
New treatment may work with folic acid to boost prevention of neural tube defects like spina bifida
Researchers at the UCL Institute of Child Health (ICH) are investigating a new treatment that could work alongside folic acid to boost its effectiveness and prevent a greater proportion of neural tube defects - such as spina bifida - in early pregnancy.
A new study published on Friday 9 August in the journal Brain shows that the new treatment, when tested in mice, reduced the incidence of neural tube defects (NTDs) by 85 per cent. This new approach was also successful in preventing some kinds of NTDs that are currently unresponsive to folic acid.
...
One reason why folic acid might not always be effective is that a 'genetic blockage' can occur in the way folic acid is handled, or metabolised, in cells. In such cases, even if folic acid is taken early in pregnancy it is blocked from having the desired effect on the embryo. The new treatment being tested at the ICH involves supplementing with 'nucleotides', which are needed to make DNA as cells divide in the growing embryo. Nucleotides can bypass the blockage in the way folic acid is handled, ensuring the growth of crucial cells in the embryo.
NTDs are likely to have many possible causes and the ICH team considers that the most effective way to reduce the risk of NTDs is to use a combination of different treatments. In previous studies they found that a particular vitamin, inositol, has a protective effect and this is being tested in a clinical trial.
Similar studies are now proposed for the 'nucleotide' treatment, and researchers envisage that a single tablet could eventually be developed for women planning a baby, which would contain folic acid and the new protective compounds.
Commenting on the new research, Nicholas Greene, Professor of Developmental Neurobiology at the ICH, said: "We are still in the early stages of this research, but we hope that these promising results in mice can eventually be replicated with human NTDs. If it is found to be effective, this nucleotide treatment could boost the effects of folic acid and offer expectant mothers an even more reliable safeguard against relatively common defects like spina bifida."
Prof Greene added: "While we continue our research into this new treatment, it's important to emphasise that folic acid supplements remain the most effective prevention against NTDs currently available for women who are planning a baby. While we are greatly encouraged by these new findings, I would strongly urge women to continue taking folic acid in its current form until we reach a point where additional supplements might become available."
Source:
Great Ormond Street Hospital. "New treatment may work with folic acid to boost prevention of neural tube defects like spina bifida." Medical News Today. MediLexicon, Intl., 13 Aug. 2013. Web.
19 Aug. 2013. <http://www.medicalnewstoday.com/releases/264710.php>
A new study published on Friday 9 August in the journal Brain shows that the new treatment, when tested in mice, reduced the incidence of neural tube defects (NTDs) by 85 per cent. This new approach was also successful in preventing some kinds of NTDs that are currently unresponsive to folic acid.
...
One reason why folic acid might not always be effective is that a 'genetic blockage' can occur in the way folic acid is handled, or metabolised, in cells. In such cases, even if folic acid is taken early in pregnancy it is blocked from having the desired effect on the embryo. The new treatment being tested at the ICH involves supplementing with 'nucleotides', which are needed to make DNA as cells divide in the growing embryo. Nucleotides can bypass the blockage in the way folic acid is handled, ensuring the growth of crucial cells in the embryo.
NTDs are likely to have many possible causes and the ICH team considers that the most effective way to reduce the risk of NTDs is to use a combination of different treatments. In previous studies they found that a particular vitamin, inositol, has a protective effect and this is being tested in a clinical trial.
Similar studies are now proposed for the 'nucleotide' treatment, and researchers envisage that a single tablet could eventually be developed for women planning a baby, which would contain folic acid and the new protective compounds.
Commenting on the new research, Nicholas Greene, Professor of Developmental Neurobiology at the ICH, said: "We are still in the early stages of this research, but we hope that these promising results in mice can eventually be replicated with human NTDs. If it is found to be effective, this nucleotide treatment could boost the effects of folic acid and offer expectant mothers an even more reliable safeguard against relatively common defects like spina bifida."
Prof Greene added: "While we continue our research into this new treatment, it's important to emphasise that folic acid supplements remain the most effective prevention against NTDs currently available for women who are planning a baby. While we are greatly encouraged by these new findings, I would strongly urge women to continue taking folic acid in its current form until we reach a point where additional supplements might become available."
Source:
Great Ormond Street Hospital. "New treatment may work with folic acid to boost prevention of neural tube defects like spina bifida." Medical News Today. MediLexicon, Intl., 13 Aug. 2013. Web.
19 Aug. 2013. <http://www.medicalnewstoday.com/releases/264710.php>
mardi 26 juin 2012
Maternal Prepregnancy Body Mass Index and Risk of Neural Tube Defects: A Population-Based Case–Control Study in Shanxi Province, China
Background:
Many studies from the Western world have indicated that maternal obesity is associated with an increased risk of neural tube defects (NTDs). However, few reports have been available on this association from Asian populations. Our aim was to examine the relationship between maternal prepregnancy body mass index (BMI) and the risk of NTDs in a population of northern China.
Methods:
Data were derived from an ongoing population-based case–control study of birth defects in Shanxi province, China. Subjects were 511 NTD cases and 687 controls selected from the same population between January 2003 and June 2007. BMI was based on maternal height and prepregnancy weight as reported within 1 week of delivery.
Results:
We found no significantly increased risk of NTDs for obese women (adjusted odds ratio [OR], 0.65; 95% confidence interval [CI], 0.29–1.49) or for underweight women (adjusted OR, 1.00; 95% CI, 0.62–1.62) relative to normal-weight women. We found a significantly reduced risk of overall NTDs (adjusted OR, 0.56; 95% CI, 0.41–0.76) and anencephaly (adjusted OR, 0.40; 95% CI, 0.26–0.62) for overweight women compared to normal-weight women.
Conclusions:
Our results do not support the association between maternal prepregnancy obesity and increased risk of overall NTDs or of any subtype of NTDs in the Chinese population.
Journal Reference:
Maternal Prepregnancy Body Mass Index and Risk of Neural Tube Defects: A Population-Based Case–Control Study in Shanxi Province, China,Zhiwen Li et al., Birth Defects Research (Part A) 88:570–574, 2010.
Many studies from the Western world have indicated that maternal obesity is associated with an increased risk of neural tube defects (NTDs). However, few reports have been available on this association from Asian populations. Our aim was to examine the relationship between maternal prepregnancy body mass index (BMI) and the risk of NTDs in a population of northern China.
Methods:
Data were derived from an ongoing population-based case–control study of birth defects in Shanxi province, China. Subjects were 511 NTD cases and 687 controls selected from the same population between January 2003 and June 2007. BMI was based on maternal height and prepregnancy weight as reported within 1 week of delivery.
Results:
We found no significantly increased risk of NTDs for obese women (adjusted odds ratio [OR], 0.65; 95% confidence interval [CI], 0.29–1.49) or for underweight women (adjusted OR, 1.00; 95% CI, 0.62–1.62) relative to normal-weight women. We found a significantly reduced risk of overall NTDs (adjusted OR, 0.56; 95% CI, 0.41–0.76) and anencephaly (adjusted OR, 0.40; 95% CI, 0.26–0.62) for overweight women compared to normal-weight women.
Conclusions:
Our results do not support the association between maternal prepregnancy obesity and increased risk of overall NTDs or of any subtype of NTDs in the Chinese population.
Journal Reference:
Maternal Prepregnancy Body Mass Index and Risk of Neural Tube Defects: A Population-Based Case–Control Study in Shanxi Province, China,Zhiwen Li et al., Birth Defects Research (Part A) 88:570–574, 2010.
Tea Drinking as a Risk Factor for Neural Tube Defects in Northern China
Background:
Tea catechins inhibit the activity of the enzyme dihydrofolate reductase, which catalyzes the inactive form of folate 7,8-dihydrofolate to the active form of folate 5,6,7,8-tetrahydrofolate. This inhibition leads to disturbance of the folate metabolic pathway and to lower bioavailability of folate to cells; therefore, it may increase the risk of neural tube defects (NTDs) in a developing embryo. We examined the association between tea drinking during the periconceptional period and the risk of NTDs.
Methods:
Cases were fetuses or neonates with an NTD as ascertained through a population-based surveillance system in 4 rural counties of Shanxi Province in northern China during 2002 through 2007. Controls were term infants without congenital malformations. Demographic, reproductive, and exposure data were obtained through a face-to-face interview.
Results:
A total of 631 NTD cases and 857 controls were included in the analysis. Compared with women who did not drink tea during the periconceptional period (487 cases and 688 controls), women
who drank tea daily (20 cases and 9 controls) had a 3-fold increased risk (odds ratio 3.1 95% confidence interval 1.4 –7.0 ) of having an NTD-affected pregnancy. The elevated risk associated
with daily tea drinking remained after adjusting for maternal age, educational level, occupation, and periconceptional folic acid supplementation (3.4 1.4–8.3 ). The association was present for all 3 major subtypes of NTDs (ie, anencephaly, spina bifida, and encephalocele).
Conclusions:
Daily tea drinking during the periconceptional period was associated with an elevated risk of NTDs in this Chinese population.
Journal Reference:
Tea Drinking as a Risk Factor for Neural Tube Defects in Northern China, Rongwei Ye et al., Epidemiology 2011;22: 491–496)
Tea catechins inhibit the activity of the enzyme dihydrofolate reductase, which catalyzes the inactive form of folate 7,8-dihydrofolate to the active form of folate 5,6,7,8-tetrahydrofolate. This inhibition leads to disturbance of the folate metabolic pathway and to lower bioavailability of folate to cells; therefore, it may increase the risk of neural tube defects (NTDs) in a developing embryo. We examined the association between tea drinking during the periconceptional period and the risk of NTDs.
Methods:
Cases were fetuses or neonates with an NTD as ascertained through a population-based surveillance system in 4 rural counties of Shanxi Province in northern China during 2002 through 2007. Controls were term infants without congenital malformations. Demographic, reproductive, and exposure data were obtained through a face-to-face interview.
Results:
A total of 631 NTD cases and 857 controls were included in the analysis. Compared with women who did not drink tea during the periconceptional period (487 cases and 688 controls), women
who drank tea daily (20 cases and 9 controls) had a 3-fold increased risk (odds ratio 3.1 95% confidence interval 1.4 –7.0 ) of having an NTD-affected pregnancy. The elevated risk associated
with daily tea drinking remained after adjusting for maternal age, educational level, occupation, and periconceptional folic acid supplementation (3.4 1.4–8.3 ). The association was present for all 3 major subtypes of NTDs (ie, anencephaly, spina bifida, and encephalocele).
Conclusions:
Daily tea drinking during the periconceptional period was associated with an elevated risk of NTDs in this Chinese population.
Journal Reference:
Tea Drinking as a Risk Factor for Neural Tube Defects in Northern China, Rongwei Ye et al., Epidemiology 2011;22: 491–496)
mercredi 16 novembre 2011
‘‘My Baby Is a Person’’: Parents’ Experiences with Life-Threatening Fetal Diagnosis
Abstract:
Diagnosis of a lethal fetal diagnosis (LFD) early in pregnancy is devastating for parents. Those who choose to continue with the pregnancy report intense emotional reactions and inconsistent, often insensitive treatment by health care providers. This qualitative descriptive study sought to clarify the experiences and needs of families in order to design responsive perinatal palliative care services, and to establish the feasibility and acceptability of conducting intensive interviews of pregnant women and their partners during their pregnancy with a LFD. We interviewed 2 women and 3 couples during pregnancy or just after birth, using open ended questions. Audiotaped responses were analyzed by two investigators. Two dimensions and six themes emerged. In the dimension of Personal Pregnancy Experience, ‘‘Grieving Multiple Losses’’ elucidates that parents grieve the loss of their normal pregnancy, healthy baby and future parenting. ‘‘Arrested Parenting’’ describes their sudden interruption in the normal process of becoming a parent. The theme ‘‘My Baby is a Person’’ reflects parents’ unanimous desire to honor and legitimize the humanity of their unborn baby. In the dimension of Interactions of Others, three themes were found. ‘‘Fragmented Health Care’’ describes parent’s disjointed and distant encounters with multiple providers. ‘‘Disconnected Family and Friends’’ describes the lack of understanding of what the families were experiencing. ‘‘Utterly Alone,’’ which crosses both dimensions, expresses how the parents’ sense of social isolation adds to their personal sense of loss and loneliness. Recommendations are made for palliative care’s role in respecting and validating the experience of parents living through a doomed pregnancy.
Extracts:
"Parents have expressed frustrations over poor communication, feeling abandoned, and needing more time to make decisions. Parents coped using denial, optimism or pessimism, privacy and control, and
attachment to or detachment from the baby. They reported that it was not helpful when providers encouraged pregnancy termination or focused only on maternal health."
"Our overall impression was that the parents, in spite of their grief, demonstrated love for their baby and determination to find meaning in and honor their baby’s life. The dimensions and themes ... [show the] disconnect between the parents’ personal experiences and that of others, experienced through their interactions with others, leading to an intense sense of isolation that heightened the parents’ experience of loss."
"The compelling stories of these parents suggest that health care providers need to recognize their need to be treated as real parents, with acknowledgement of their baby as a person with a name and a
life, however short its prospect. These parents ask for supportive counseling to help them understandmedical conditions, make informed decisions, and communicate with multiple
providers. Theywant counseling that is providedwith attention to continuity of care, a hopeful approach that acknowledges prognostic uncertainty, and advice that is nonjudgmental."
Journal References:
Denise Côté-Arsenault and Erin Denney-Koelsch,“My Baby Is a Person”: Parents' Experiences with Life-Threatening Fetal Diagnosis, Journal of Palliative Medicine. doi:10.1089/jpm.2011.0165.
Free Fulltext:
http://libres.uncg.edu/ir/uncg/f/D_CoteArsenault_BabyPerson_2011.pdf
Diagnosis of a lethal fetal diagnosis (LFD) early in pregnancy is devastating for parents. Those who choose to continue with the pregnancy report intense emotional reactions and inconsistent, often insensitive treatment by health care providers. This qualitative descriptive study sought to clarify the experiences and needs of families in order to design responsive perinatal palliative care services, and to establish the feasibility and acceptability of conducting intensive interviews of pregnant women and their partners during their pregnancy with a LFD. We interviewed 2 women and 3 couples during pregnancy or just after birth, using open ended questions. Audiotaped responses were analyzed by two investigators. Two dimensions and six themes emerged. In the dimension of Personal Pregnancy Experience, ‘‘Grieving Multiple Losses’’ elucidates that parents grieve the loss of their normal pregnancy, healthy baby and future parenting. ‘‘Arrested Parenting’’ describes their sudden interruption in the normal process of becoming a parent. The theme ‘‘My Baby is a Person’’ reflects parents’ unanimous desire to honor and legitimize the humanity of their unborn baby. In the dimension of Interactions of Others, three themes were found. ‘‘Fragmented Health Care’’ describes parent’s disjointed and distant encounters with multiple providers. ‘‘Disconnected Family and Friends’’ describes the lack of understanding of what the families were experiencing. ‘‘Utterly Alone,’’ which crosses both dimensions, expresses how the parents’ sense of social isolation adds to their personal sense of loss and loneliness. Recommendations are made for palliative care’s role in respecting and validating the experience of parents living through a doomed pregnancy.
Extracts:
"Parents have expressed frustrations over poor communication, feeling abandoned, and needing more time to make decisions. Parents coped using denial, optimism or pessimism, privacy and control, and
attachment to or detachment from the baby. They reported that it was not helpful when providers encouraged pregnancy termination or focused only on maternal health."
"Our overall impression was that the parents, in spite of their grief, demonstrated love for their baby and determination to find meaning in and honor their baby’s life. The dimensions and themes ... [show the] disconnect between the parents’ personal experiences and that of others, experienced through their interactions with others, leading to an intense sense of isolation that heightened the parents’ experience of loss."
"The compelling stories of these parents suggest that health care providers need to recognize their need to be treated as real parents, with acknowledgement of their baby as a person with a name and a
life, however short its prospect. These parents ask for supportive counseling to help them understandmedical conditions, make informed decisions, and communicate with multiple
providers. Theywant counseling that is providedwith attention to continuity of care, a hopeful approach that acknowledges prognostic uncertainty, and advice that is nonjudgmental."
Journal References:
Denise Côté-Arsenault and Erin Denney-Koelsch,“My Baby Is a Person”: Parents' Experiences with Life-Threatening Fetal Diagnosis, Journal of Palliative Medicine. doi:10.1089/jpm.2011.0165.
Free Fulltext:
http://libres.uncg.edu/ir/uncg/f/D_CoteArsenault_BabyPerson_2011.pdf
mercredi 20 juillet 2011
Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects
Persistent organic pollutants (POPs) have been associated with a wide range of adverse health effects. Our case–control study was performed to explore the association between placental levels of selected POPs and risks for neural tube defects (NTDs) in a Chinese population with a high prevalence of NTDs. Cases included 80 fetuses or newborns with NTDs, whereas the controls were 50 healthy, nonmalformed newborn infants. Placental concentrations of polycyclic aromatic hydrocarbons (PAHs), organochlorine pesticides, polychlorinated biphenyls, and polybrominated diphenyl ethers were analyzed by gas chromatography–mass spectrometry. The medians of PAHs, o,p′-isomers of dichlorodiphenyltrichloroethane (DDT) and metabolites, α- and γ-hexachlorocyclohexane (HCH), and α-endosulfan were significantly higher in case placentas than in controls. PAH concentrations above the median were associated with a 4.52-fold [95% confidence interval (CI), 2.10–9.74) increased risk for any NTDs, and 5.84- (95% CI, 2.28–14.96) and 3.71-fold (95% CI, 1.57–8.79) increased risks for anencephaly and spina bifida, respectively. A dose–response relationship was observed between PAH levels and the risk of NTDs, with odds ratios for the second, third, and fourth quartiles, compared with the first, of 1.77- (95% CI, 0.66–4.76), 3.83- (95% CI, 1.37–10.75), and 11.67-fold (95% CI, 3.28–41.49), respectively. A dose–response relationship was observed for anencephaly and spina bifida subtypes. Similar results were observed for o,p′-DDT and metabolites, α-HCH, γ-HCH, and α-endosulfan, whereas no dose–response relationship was observed for the last two pollutants. Elevated placental concentrations of PAHs, o,p′-DDT and metabolites, and α-HCH were associated with increased risks of NTDs in this population.
Journal Reference:
, Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects PNAS 2011 ; published ahead of print July 18, 2011, doi:10.1073/pnas.1105209108
Journal Reference:
, Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects PNAS 2011 ; published ahead of print July 18, 2011, doi:10.1073/pnas.1105209108
mercredi 11 mai 2011
Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid
Abstract:
Some countries have introduced mandatory folic acid fortification, whereas others support periconceptional supplementation of women in childbearing age. Several European countries are considering whether to adopt a fortification policy. Projections of the possible beneficial effects of increased folic acid intake assume that the measure will result in a considerable reduction in neural-tube defects (NTD) in the target population.
Therefore, the objective of the present study is to evaluate the beneficial effects of different levels of folic acid administration on the prevalence of NTD. Countries with mandatory fortification achieved a significant increase in folate intake and a significant decline in the prevalence of NTD. This was also true for supplementation trials. However, the prevalence of NTD at birth declined to approximately five cases at birth per 10 000 births and seven to eight cases at birth or abortion per 10 000 births. This decline was independent of the amount of folic acid administered and apparently reveals a ‘floor effect’ for folic acid-preventable NTD. This clearly shows that not all cases of NTD are preventable by increasing the folate intake. The relative decline depends on the initial NTD rate. Countries with NTD prevalence close to the observed floor may have much smaller reductions in NTD rates with folic acid fortification. Additionally, potential adverse effects of fortification on other vulnerable population groups have to be seriously considered. Policy decisions concerning national mandatory fortification programmes must take into account realistically projected benefits as well as the evidence of risks to all vulnerable groups.
Journal Reference:
Helmut B. Heseker et al, Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid, British Journal of Nutrition (2009), 102, 173–180 doi:10.1017/S0007114508149200
Some countries have introduced mandatory folic acid fortification, whereas others support periconceptional supplementation of women in childbearing age. Several European countries are considering whether to adopt a fortification policy. Projections of the possible beneficial effects of increased folic acid intake assume that the measure will result in a considerable reduction in neural-tube defects (NTD) in the target population.
Therefore, the objective of the present study is to evaluate the beneficial effects of different levels of folic acid administration on the prevalence of NTD. Countries with mandatory fortification achieved a significant increase in folate intake and a significant decline in the prevalence of NTD. This was also true for supplementation trials. However, the prevalence of NTD at birth declined to approximately five cases at birth per 10 000 births and seven to eight cases at birth or abortion per 10 000 births. This decline was independent of the amount of folic acid administered and apparently reveals a ‘floor effect’ for folic acid-preventable NTD. This clearly shows that not all cases of NTD are preventable by increasing the folate intake. The relative decline depends on the initial NTD rate. Countries with NTD prevalence close to the observed floor may have much smaller reductions in NTD rates with folic acid fortification. Additionally, potential adverse effects of fortification on other vulnerable population groups have to be seriously considered. Policy decisions concerning national mandatory fortification programmes must take into account realistically projected benefits as well as the evidence of risks to all vulnerable groups.
Journal Reference:
Helmut B. Heseker et al, Not all cases of neural-tube defect can be prevented by increasing the intake of folic acid, British Journal of Nutrition (2009), 102, 173–180 doi:10.1017/S0007114508149200
samedi 30 avril 2011
The Mandatory Fortification of Staple Foods With Folic Acid: A Current Controversy in Germany
Introduction:
The mandatory fortification of staple foods with folic acid to prevent neural tube defects (NTDs) began in the USA in 1998. Since then, more than 50 countries around the world have followed suit.
Methods:
Selective literature review including national study results.
Results and discussion:
Women of child-bearing age need sufficient body stores of folate before conception to prevent folate-sensitive NTDs, which make up 20% to 60% of all NTDs. Merely recommending folic acid supplementation before conception has been found to be an unsuitable strategy. Ingestion of folate-fortified food markedly increases folate intake, generally by about 50% of the recommended daily total intake. In Germany at present, debate surrounds the issue whether folate intake should be raised by mandatory folate supplementation, which will affect the entire population. Folate deficiency is associated with a higher risk of cancer and other diseases; on the other hand, there is concern that very high folic acid intake might promote the growth of pre-neoplastic lesions. There are no consistent study findings to support the latter hypothesis¸ and the evidence for it is derived from research in animals whose folate metabolism differs from that in humans. About 800 pregnancies with NTD are diagnosed each year in Germany; in most cases, the pregnancy is terminated after positive prenatal screening. The incidence of NTDs in Germany is estimated at 12.36 per 10 000 births (a mean figure derived from registry data in Mainz and Saxony-Anhalt) and is thus much higher than the mean incidence across Europe, 7.88 per 10 000 births (EUROCAT data for 2004–2008). Mandatory folic acid fortification should be adopted, as it is a highly effective and inexpensive way to prevent NTDs.
Extracts:
Smoking mothers had significantly lower serum folate concentrations than non-smoking mothers (18.4 vs. 30.6 nmol/L), and the same was true for umbilical cord blood (median 57.1 vs 61.0 nmol/L).
...
For women with a history of neural tube defect–affected pregnancy, a daily intake of 4 to 5 mg folic acid is recommended. However, the lowest effective dose for preventing neural tube defects is not known thus far.
Journal Reference:
“The mandatory fortification of staple foods with folic acid: A current controversy in Germany”, W. Herrmann, R. Obeid, Deutsches Ärzteblatt International|
Volume 108, Issue 15, Pages 249 to 254, doi: 10.3238/arztebl.2011.0249
Free Fulltext
The mandatory fortification of staple foods with folic acid to prevent neural tube defects (NTDs) began in the USA in 1998. Since then, more than 50 countries around the world have followed suit.
Methods:
Selective literature review including national study results.
Results and discussion:
Women of child-bearing age need sufficient body stores of folate before conception to prevent folate-sensitive NTDs, which make up 20% to 60% of all NTDs. Merely recommending folic acid supplementation before conception has been found to be an unsuitable strategy. Ingestion of folate-fortified food markedly increases folate intake, generally by about 50% of the recommended daily total intake. In Germany at present, debate surrounds the issue whether folate intake should be raised by mandatory folate supplementation, which will affect the entire population. Folate deficiency is associated with a higher risk of cancer and other diseases; on the other hand, there is concern that very high folic acid intake might promote the growth of pre-neoplastic lesions. There are no consistent study findings to support the latter hypothesis¸ and the evidence for it is derived from research in animals whose folate metabolism differs from that in humans. About 800 pregnancies with NTD are diagnosed each year in Germany; in most cases, the pregnancy is terminated after positive prenatal screening. The incidence of NTDs in Germany is estimated at 12.36 per 10 000 births (a mean figure derived from registry data in Mainz and Saxony-Anhalt) and is thus much higher than the mean incidence across Europe, 7.88 per 10 000 births (EUROCAT data for 2004–2008). Mandatory folic acid fortification should be adopted, as it is a highly effective and inexpensive way to prevent NTDs.
Extracts:
Smoking mothers had significantly lower serum folate concentrations than non-smoking mothers (18.4 vs. 30.6 nmol/L), and the same was true for umbilical cord blood (median 57.1 vs 61.0 nmol/L).
...
For women with a history of neural tube defect–affected pregnancy, a daily intake of 4 to 5 mg folic acid is recommended. However, the lowest effective dose for preventing neural tube defects is not known thus far.
Journal Reference:
“The mandatory fortification of staple foods with folic acid: A current controversy in Germany”, W. Herrmann, R. Obeid, Deutsches Ärzteblatt International|
Volume 108, Issue 15, Pages 249 to 254, doi: 10.3238/arztebl.2011.0249
Free Fulltext
High Levels of Folate, from Supplements and Fortification, Are Not Associated with Increased Risk of Colorectal Cancer
Background & Aims:
Folate intake has been inversely associated with colorectal cancer risk in several prospective epidemiologic studies. However, no study fully assessed the influence of the high levels of folate that are frequently consumed in the United States as a result of mandatory folate fortification, which was fully implemented in 1998, and the recent increase in use of folate-containing supplements. There is evidence that consumption of high levels of folic acid, the form of folate used for fortification and in supplements, has different effects on biochemical pathways than natural folates and might promote carcinogenesis.
Methods:
We investigated the association between folate intake and colorectal cancer among 43,512 men and 56,011 women in the Cancer Prevention Study II (CPS-II) Nutrition Cohort; 1,023 were diagnosed with colorectal cancer between 1999 and 2007, a period entirely after folate fortification began. Cox proportional hazards regression was used to calculate multivariate hazards ratios (RR) and 95% confidence intervals (CI).
Results:
Intake of high levels of natural folate (RRQ5vsQ1=0.86; 95% confidence interval [CI], 0.70–1.06; P -trend=0.12) or folic acid (RRQ5vsQ1=0.84; 95% CI, 0.68–1.03; P -trend=0.06) were not significantly associated with risk of colorectal cancer. Total folate intake was significantly associated with lower risk (RRQ5vsQ1=0.81; 95% CI, 0.66–0.99; P -trend=0.047).
Conclusions:
Intake of high levels of total folate reduces risk of colorectal cancer; there is no evidence that dietary fortification or supplementation with this vitamin increases colorectal cancer risk.
Journal Reference:
High Levels of Folate, from Supplements and Fortification, Are Not Associated with Increased Risk of Colorectal Cancer, Victoria L. Stevens, Marjorie L. McCullough, Juzhong Sun, Eric J. Jacobs, Peter T. Campbell, Susan M. Gapstur, Gastroenterology - 15 April 2011 (10.1053/j.gastro.2011.04.004)
Folate intake has been inversely associated with colorectal cancer risk in several prospective epidemiologic studies. However, no study fully assessed the influence of the high levels of folate that are frequently consumed in the United States as a result of mandatory folate fortification, which was fully implemented in 1998, and the recent increase in use of folate-containing supplements. There is evidence that consumption of high levels of folic acid, the form of folate used for fortification and in supplements, has different effects on biochemical pathways than natural folates and might promote carcinogenesis.
Methods:
We investigated the association between folate intake and colorectal cancer among 43,512 men and 56,011 women in the Cancer Prevention Study II (CPS-II) Nutrition Cohort; 1,023 were diagnosed with colorectal cancer between 1999 and 2007, a period entirely after folate fortification began. Cox proportional hazards regression was used to calculate multivariate hazards ratios (RR) and 95% confidence intervals (CI).
Results:
Intake of high levels of natural folate (RRQ5vsQ1=0.86; 95% confidence interval [CI], 0.70–1.06; P -trend=0.12) or folic acid (RRQ5vsQ1=0.84; 95% CI, 0.68–1.03; P -trend=0.06) were not significantly associated with risk of colorectal cancer. Total folate intake was significantly associated with lower risk (RRQ5vsQ1=0.81; 95% CI, 0.66–0.99; P -trend=0.047).
Conclusions:
Intake of high levels of total folate reduces risk of colorectal cancer; there is no evidence that dietary fortification or supplementation with this vitamin increases colorectal cancer risk.
Journal Reference:
High Levels of Folate, from Supplements and Fortification, Are Not Associated with Increased Risk of Colorectal Cancer, Victoria L. Stevens, Marjorie L. McCullough, Juzhong Sun, Eric J. Jacobs, Peter T. Campbell, Susan M. Gapstur, Gastroenterology - 15 April 2011 (10.1053/j.gastro.2011.04.004)
mardi 22 mars 2011
The Impact of Prenatal Diagnosis and Termination of Pregnancy on the Relative Incidence of Malformations at Birth among Jews and Muslim Arabs in Israel
Background:
Ultrasound examination of the fetus enables diagnosis of many major malformations during pregnancy, providing the possibility to consider termination of the pregnancy. As a result, in many cases the incidence of malformations at birth does not represent their true incidence.
Objectives:
To determine the impact of prenatal diagnosis and pregnancy termination on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel.
Methods: Data on selected major malformations in 2000–2003 were collected from the two large central databases of the Ministry of Health and the Central Bureau of Statistics which contain information regarding births, stillbirths and terminations of pregnancies.
Results:
For many malformations the total incidence was much higher than the incidence at birth. For almost all of the malformations studied, the total incidence was higher
in Muslims than in Jews and the differences were further accentuated among the liveborn because of the differences in the rate of pregnancy terminations.
Conclusions: In order to detect possible influences of environmental or genetic factors on major malformations in Israel, it is critical to look at data including pregnancy terminations, stillbirths and live births.
Journal Reference:
Zlotogora J, Haklai Z, Rotem N, Georgi M, Rubin L: The impact of prenatal diagnosis and termination of pregnancy on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel. Isr Med Assoc J; 2010 Sep;12(9):539-42
Free Fulltext
Extract:
For many of the malformations studied the rate at birth did not represent even an estimate of the true incidence. The most extreme example was anencephaly. Among Jews the rate of live births with anencephaly (0.45 /10,000 live births) was 10.9
times lower than its true incidence (4.99/10,000 live births).
...
In the present study the differences in the rate of pregnancy termination between Jews and Muslims were evident. The differences were present both for a severe and lethal malformation such as anencephaly (82% terminated among Jews and 60% among Muslims) and less severe malformations such as spina bifida (62% and 32%) or Down syndrome (57% and 24%).
...
However, an important question that must be addressed but cannot be resolved by the present study is whether the differences in the rate of pregnancy termination represent only a difference in the approach to pregnancy or are also due to differences in the ability to arrive at a diagnosis during pregnancy. In the example of anencephaly, since almost all the cases are diagnosed during pregnancy, the differences in the rate of termination among the two groups are mainly explained by differences concerning the approach to termination.
Ultrasound examination of the fetus enables diagnosis of many major malformations during pregnancy, providing the possibility to consider termination of the pregnancy. As a result, in many cases the incidence of malformations at birth does not represent their true incidence.
Objectives:
To determine the impact of prenatal diagnosis and pregnancy termination on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel.
Methods: Data on selected major malformations in 2000–2003 were collected from the two large central databases of the Ministry of Health and the Central Bureau of Statistics which contain information regarding births, stillbirths and terminations of pregnancies.
Results:
For many malformations the total incidence was much higher than the incidence at birth. For almost all of the malformations studied, the total incidence was higher
in Muslims than in Jews and the differences were further accentuated among the liveborn because of the differences in the rate of pregnancy terminations.
Conclusions: In order to detect possible influences of environmental or genetic factors on major malformations in Israel, it is critical to look at data including pregnancy terminations, stillbirths and live births.
Journal Reference:
Zlotogora J, Haklai Z, Rotem N, Georgi M, Rubin L: The impact of prenatal diagnosis and termination of pregnancy on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel. Isr Med Assoc J; 2010 Sep;12(9):539-42
Free Fulltext
Extract:
For many of the malformations studied the rate at birth did not represent even an estimate of the true incidence. The most extreme example was anencephaly. Among Jews the rate of live births with anencephaly (0.45 /10,000 live births) was 10.9
times lower than its true incidence (4.99/10,000 live births).
...
In the present study the differences in the rate of pregnancy termination between Jews and Muslims were evident. The differences were present both for a severe and lethal malformation such as anencephaly (82% terminated among Jews and 60% among Muslims) and less severe malformations such as spina bifida (62% and 32%) or Down syndrome (57% and 24%).
...
However, an important question that must be addressed but cannot be resolved by the present study is whether the differences in the rate of pregnancy termination represent only a difference in the approach to pregnancy or are also due to differences in the ability to arrive at a diagnosis during pregnancy. In the example of anencephaly, since almost all the cases are diagnosed during pregnancy, the differences in the rate of termination among the two groups are mainly explained by differences concerning the approach to termination.
vendredi 18 février 2011
Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study
Objective:
To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.
Design:
A review of all published cohort studies to identify key indications and a population based case-control study to test these indications.
Setting:
Review of PubMed, Web of Science, and Embase for papers about carbamazepine exposure in the first trimester of pregnancy and specific malformations, and the EUROCAT Antiepileptic Study Database, including data from 19 European population based congenital anomaly registries, 1995-2005.
Participants:
The literature review covered eight cohort studies of 2680 pregnancies with carbamazepine monotherapy exposure, and the EUROCAT dataset included 98 075 registrations of malformations covering over 3.8 million births.
Main outcome measures:
Overall prevalence for a major congenital malformation after exposure to carbamazepine monotherapy in the first trimester. Odds ratios for malformations with exposure to carbamazepine among cases (five types of malformation identified in the literature review) compared with two groups of controls: other non-chromosomal registrations of malformations and chromosomal syndromes.
Results:
The literature review yielded an overall prevalence for a major congenital malformation of 3.3% (95% confidence interval 2.7 to 4.2) after exposure to carbamazepine monotherapy in the first trimester. In 131 registrations of malformations, the fetus had been exposed to carbamazepine monotherapy. Spina bifida was the only specific major congenital malformation significantly associated with exposure to carbamazepine monotherapy (odds ratio 2.6 (95% confidence interval 1.2 to 5.3) compared with no antiepileptic drug), but the risk was smaller for carbamazepine than for valproic acid (0.2, 0.1 to 0.6). There was no evidence for an association with total anomalous pulmonary venous return (no cases with carbamazepine exposure), cleft lip (with or without palate) (0.2, 0.0 to 1.3), diaphragmatic hernia (0.9, 0.1 to 6.6), or hypospadias (0.7, 0.3 to 1.6) compared with no exposure to antiepileptic drugs. Further exploratory analysis suggested a higher risk of single ventricle and atrioventricular septal defect.
Conclusion:
Carbamazepine teratogenicity is relatively specific to spina bifida, though the risk is less than with valproic acid. Despite the large dataset, there was not enough power to detect moderate risks for some rare major congenital malformations.
Journal Reference:
Janneke Jentink et al, Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study, BMJ 2010; 341:c6581 doi: 10.1136/bmj.c6581 (Published 2 December 2010)
To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.
Design:
A review of all published cohort studies to identify key indications and a population based case-control study to test these indications.
Setting:
Review of PubMed, Web of Science, and Embase for papers about carbamazepine exposure in the first trimester of pregnancy and specific malformations, and the EUROCAT Antiepileptic Study Database, including data from 19 European population based congenital anomaly registries, 1995-2005.
Participants:
The literature review covered eight cohort studies of 2680 pregnancies with carbamazepine monotherapy exposure, and the EUROCAT dataset included 98 075 registrations of malformations covering over 3.8 million births.
Main outcome measures:
Overall prevalence for a major congenital malformation after exposure to carbamazepine monotherapy in the first trimester. Odds ratios for malformations with exposure to carbamazepine among cases (five types of malformation identified in the literature review) compared with two groups of controls: other non-chromosomal registrations of malformations and chromosomal syndromes.
Results:
The literature review yielded an overall prevalence for a major congenital malformation of 3.3% (95% confidence interval 2.7 to 4.2) after exposure to carbamazepine monotherapy in the first trimester. In 131 registrations of malformations, the fetus had been exposed to carbamazepine monotherapy. Spina bifida was the only specific major congenital malformation significantly associated with exposure to carbamazepine monotherapy (odds ratio 2.6 (95% confidence interval 1.2 to 5.3) compared with no antiepileptic drug), but the risk was smaller for carbamazepine than for valproic acid (0.2, 0.1 to 0.6). There was no evidence for an association with total anomalous pulmonary venous return (no cases with carbamazepine exposure), cleft lip (with or without palate) (0.2, 0.0 to 1.3), diaphragmatic hernia (0.9, 0.1 to 6.6), or hypospadias (0.7, 0.3 to 1.6) compared with no exposure to antiepileptic drugs. Further exploratory analysis suggested a higher risk of single ventricle and atrioventricular septal defect.
Conclusion:
Carbamazepine teratogenicity is relatively specific to spina bifida, though the risk is less than with valproic acid. Despite the large dataset, there was not enough power to detect moderate risks for some rare major congenital malformations.
Journal Reference:
Janneke Jentink et al, Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study, BMJ 2010; 341:c6581 doi: 10.1136/bmj.c6581 (Published 2 December 2010)
mardi 25 janvier 2011
The decision to accept disability: One family’s perspective
At 21 weeks’gestation, we were informed that our daughter, Annie, had a genetic condition associated with profound disabilities. Thus began the most difficult but, ultimately, most enriching journey of our lives.
...
This article is not about a child with anencephaly, but the family's perspective after a poor prenatal diagnosis is very well expressed.
Read the Fulltext
Journal Reference:
Barbara Farlow, The decision to accept disability: One family’s perspective, Paediatr Child Health. 2008 May; 13(5): 367.
PMCID: PMC2532897
...
This article is not about a child with anencephaly, but the family's perspective after a poor prenatal diagnosis is very well expressed.
Read the Fulltext
Journal Reference:
Barbara Farlow, The decision to accept disability: One family’s perspective, Paediatr Child Health. 2008 May; 13(5): 367.
PMCID: PMC2532897
lundi 13 décembre 2010
Genetic link for folic acid supplementation: Study
Genetic link for folic acid supplementation: Study: "A link between changes in the DNA of newborn babies, folic acid supplementation during pregnancy, and birth weight, has been identified for the first time, researchers claim."
lundi 6 décembre 2010
Use of clomiphene citrate and birth defects, National Birth Defects Prevention Study, 1997–2005
BACKGROUND
Clomiphene citrate (CC) is the first line drug for subfertility treatment. Studies assessing the association between CC and birth defects have been inconclusive.
METHODS
We used data from the National Birth Defects Prevention Study, a population-based, multi-site case–control study of major birth defects. Women from 10 US regions with deliveries affected by at least one of >30 birth defects (cases) and mothers of live born infants without a major birth defect (controls) who delivered October 1997–December 2005 were interviewed. The exposure of interest was reported CC use in the period from 2 months before conception through the first month of pregnancy. Women who conceived using assisted reproductive technology were excluded. Thirty-six birth defect categories with at least three exposed cases were studied. Multiple logistic regression was used to control for potential confounders.
RESULTS
CC use was reported by 1.4% of control mothers (94/6500). Among 36 case-groups assessed, increased adjusted odds ratios (aOR) were found [all: aOR, 95% confidence interval (CI)] for anencephaly (2.3, 1.1–4.7), Dandy–Walker malformation (4.4, 1.7–11.6), septal heart defects (1.6, 1.1–2.2), muscular ventricular septal defect (4.9, 1.4–16.8), coarctation of aorta (1.8, 1.1–3.0), esophageal atresia (2.3, 1.3–4.0), cloacal exstrophy (5.4, 1.6–19.3), craniosynostosis (1.9, 1.2–3.0) and omphalocele (2.2, 1.1–4.5).
CONCLUSIONS
Several associations between CC use and birth defects were observed. However, because of the small number of cases, inconsistency of some findings with previous reports, and the fact that we cannot assess the CC effect separately from that of the subfertility, these associations should be interpreted cautiously.
Journal Reference:
J. Reefhuis, M.A. Honein, L.A. Schieve, S.A. Rasmussen, and the National Birth Defects Prevention Study
Use of clomiphene citrate and birth defects, National Birth Defects Prevention Study, 1997–2005
Hum. Reprod. 2010 : deq313v1-deq313.
Clomiphene citrate (CC) is the first line drug for subfertility treatment. Studies assessing the association between CC and birth defects have been inconclusive.
METHODS
We used data from the National Birth Defects Prevention Study, a population-based, multi-site case–control study of major birth defects. Women from 10 US regions with deliveries affected by at least one of >30 birth defects (cases) and mothers of live born infants without a major birth defect (controls) who delivered October 1997–December 2005 were interviewed. The exposure of interest was reported CC use in the period from 2 months before conception through the first month of pregnancy. Women who conceived using assisted reproductive technology were excluded. Thirty-six birth defect categories with at least three exposed cases were studied. Multiple logistic regression was used to control for potential confounders.
RESULTS
CC use was reported by 1.4% of control mothers (94/6500). Among 36 case-groups assessed, increased adjusted odds ratios (aOR) were found [all: aOR, 95% confidence interval (CI)] for anencephaly (2.3, 1.1–4.7), Dandy–Walker malformation (4.4, 1.7–11.6), septal heart defects (1.6, 1.1–2.2), muscular ventricular septal defect (4.9, 1.4–16.8), coarctation of aorta (1.8, 1.1–3.0), esophageal atresia (2.3, 1.3–4.0), cloacal exstrophy (5.4, 1.6–19.3), craniosynostosis (1.9, 1.2–3.0) and omphalocele (2.2, 1.1–4.5).
CONCLUSIONS
Several associations between CC use and birth defects were observed. However, because of the small number of cases, inconsistency of some findings with previous reports, and the fact that we cannot assess the CC effect separately from that of the subfertility, these associations should be interpreted cautiously.
Journal Reference:
J. Reefhuis, M.A. Honein, L.A. Schieve, S.A. Rasmussen, and the National Birth Defects Prevention Study
Use of clomiphene citrate and birth defects, National Birth Defects Prevention Study, 1997–2005
Hum. Reprod. 2010 : deq313v1-deq313.
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