Robertson R D, Sarti D A, Brown W J, Crandall B F
J Med Genet. 1981 Apr;18(2):105-7. doi: 10.1136/jmg.18.2.105.
A family is described with congenital hydrocephalus occurring in two pregnancies following the birth of a child with a neural tube defect (NTD). Prenatal diagnosis of hydrocephalus at mid-gestation was achieved by ultrasonography. The increased frequency of hydrocephalus among sibs of probands with a NTD and vice versa suggests that, following the birth of a child with either malformations, subsequent pregnancies should be monitored at mid-gestation by amniotic fluid AFP and serial ultrasound examination.
本文描述了一个家庭,在一名患有神经管缺陷(NTD)的儿童出生后,其两次妊娠中出现了先天性脑积水。通过超声检查在妊娠中期实现了脑积水的产前诊断。患有NTD的先证者的同胞中脑积水的发生率增加,反之亦然,这表明,在患有任何一种畸形的儿童出生后,后续妊娠应在妊娠中期通过羊水甲胎蛋白和系列超声检查进行监测。