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

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."

"Why is the term [lethal malformations] used? One reason is that practitioners may mistakenly believe that conditions like those listed in Tables 1 and 2 are not compatible with survival beyond the newborn period. A second potential reason is a discomfort with uncertainty, or a desire to make decision-making simpler. It is potentially easier for women to come to terms with termination of pregnancy or with palliative care if they are told that survival is impossible, and it may be easier for professionals to make and rationalise such decisions. A third possibility is that practitioners are aware that death is not inevitable but believe that the survivors will not have a life that is worth living. Finally, it may be that the term ‘lethal’ is believed to be an effective way of communicating the
grave nature of the fetus’ prognosis."

"But the problem is that 'lethal malformation' is not clear, and the way it is used hampers, rather than helps, communication. ... the term lethal is dangerous, as it contains concealed judgements about the quality of life of affected infants, and risks taking decisions out of the hand of women."


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