Sib risk of neural tube defect: is prenatal diagnosis indicated in pregnancies following the birth of a hydrocephalic child?. Issue 1 (February 1979)

• Record Type: Journal Article
• Authors: Cohen, T; Stern, E; Rosenmann, A
• Is Part Of: Journal of medical genetics. Volume 16:Issue 1(1979)
• Page Start: 14
• Page End: 16
• Publication Date: 1979-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.16.1.14
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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 increased 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.