Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18.
Open Access
- 1 April 1983
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (2) , 132-133
- https://doi.org/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.Keywords
This publication has 3 references indexed in Scilit:
- Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defectsHuman Genetics, 1981
- Ultrasonic detection of an abnormal mass in a fetus later shown to have trisomy 18Prenatal Diagnosis, 1981
- Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.Journal of Medical Genetics, 1978