‘‘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

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:
Aiguo Ren et al., 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

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

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

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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)

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

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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.

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)

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.

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Journal Reference:
Barbara Farlow, The decision to accept disability: One family’s perspective, Paediatr Child Health. 2008 May; 13(5): 367.
PMCID: PMC2532897