Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?

Abstract

SUMMARY Recurrence frequencies of central nervous system malformations in sibs of probands with anencephalus or spina bifida range between 1 % and 7 %. The frequency of hydrocephalus among sibs of such probands is low (0.21 %) but, nevertheless, is increased 2 to 5-fold when compared to general population frequencies. Anencephalus and spina bifida cystica were observed in 1 .65% of sibs of children with hydrocephalus, a 2-to 8-fold increase over the population frequencies. These data indicate that some aetiological factors may be common to all three malformations. The risk figure of 1 .65 % for anencephalus and spina bifida in sibs born after the birth of a hydrocephalic proband constitutes sufficient indication for prenatal diagnosis by alphafetoprotein determination of the amniotic fluid.

Genetic disorders among Palestinian Arabs. 2. Hydrocephalus and neural tube defects

“…Analysis of the associated malformations and of the family data demonstrated that many cases with occipital cephalocele were in fact affected with Meckel or Warburg syndrome. It has been suggested that there is an increased risk for hydrocephalus in families with a propositus affected with an open neural tube defect [Cohen et al, 1979]. However, while we observed several families in which one sib had hydrocephalus and another had an encephalocele or anencephaly, we never observed one sib with hydrocephalus and another with an open myelomeningocele.…”

Neural Tube Defects in Algeria

“…In general, patients with spina bifida, not including anencephaly and encephalocele, will have 80 to 85% chance of developing hydrocephallus (Rintoul et al, 2002). Also, it has been suggested that there is an increased risk for hydrocephalus in families with a propositus affected with NTD (Cohen et al, 1979).…”

Peptide-Mediated Protection from Ethanol-Induced Neural Tube Defects

“…It is noteworthy that the neuropathology of FASD resembles that associated with L1 gene mutations [Charness et al, 1994;Ramanathan et al, 1996]. In particular, both conditions show hypoplasia of the corpus callosum and hydrocephalus -pathologic abnormalities that have been associated in epidemiologic studies with NTDs [Cohen et al, 1979;Lorber, 1984].…”