Prenatal diagnosis of craniorachischisis totalis.

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

Fetal Myelomeningocele After Maternal Methotrexate Administration: A Case Report.

Background: Folate supplementation in women of reproductive age has a well-established role in the prevention of neural tube defects. Methotrexate is a commonly used drug which functions by inhibiting normal folate metabolism in active cells. An association between fetal methotrexate exposure and myelomeningocele might be expected, considering this relationship. However, to our knowledge, no cases of myelomeningocele secondary to in utero methotrexate exposure have been reported. Case: We present the case of a gravid patient who, having received methotrexate for management of an ectopic pregnancy, was lost to follow-up and returned several weeks later carrying an intrauterine pregnancy. The fetus was found prenatally to be suffering from multiple congenital anomalies. At birth the infant demonstrated many of the abnormalities commonly associated with fetal methotrexate syndrome, including craniosynostosis and talipes equinovarus. Most interestingly, the newborn was also diagnosed with a lumbar myelomeningocele and concomitant type II Chiari malformation, as is often associated with such a neural tube defect. Conclusion: Methotrexate exposure may impact the fetal risk of myelomeningocele. Patients should be counseled thoroughly on the importance of follow-up care.

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil.

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. METHODS: 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.

[Anencephaly. 10 cases seen in 3 years in Brazzaville (Congo)]. / L'anencéphalie. Dix cas observés en 3 ans à Brazzaville (Congo).

The authors report ten cases of anencephaly diagnosed between 1989 and 1991 in the maternity units of Brazzaville (Congo). The incidence of anencephaly was 0.12 per thousand. Although there was no geographical factors to definitely identify, there is a suspicion that the consumption of potatoes, infected by phytophotora infestans at the beginning of pregnancy may have had an effect; but this hypothesis would have to be confirmed by microbiological studies. The patients were young with a mean age of 27.5 years and were of low socio-economic levels. In this study female fetuses were often affected; which is also found in the literature but without any reasonable explanation. The means of diagnosis of anencephaly in Brazzaville have improved thanks to the recent acquisition of an ultrasound machine which made it possible to screen most of these cases.