Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18.
作者信息
Nevin N C, Nevin J, Dunlop J M, Gray M
出版信息
J Med Genet. 1983 Apr;20(2):132-3. doi: 10.1136/jmg.20.2.132.
Abstract
An ultrasonic examination revealed a grossly distended fetal abdomen. Amniocentesis at 19 weeks' gestation showed raised amniotic fluid alphafetoprotein, a second band of specific acetylcholinesterase, and a fetal karyotype 47,XY,+18. The pregnancy was terminated and the necropsy examination showed absence of the urethra, grossly distended bladder, hydroureters, and congenital heart anomalies.
摘要
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Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.
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