Literature DB >> 6682448

Antenatal detection of grossly distended bladder owing to absence of the urethra in a fetus with trisomy 18.

N C Nevin, J Nevin, J M Dunlop, M Gray.   

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.

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Year:  1983        PMID: 6682448      PMCID: PMC1049017          DOI: 10.1136/jmg.20.2.132

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  3 in total

1.  Raised alpha-fetoprotein levels in amniotic fluid and maternal serum associated with distension of the fetal bladder caused by absence of urethra.

Authors:  N C Nevin; A Ritchie; F McKeown; G Roberts
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

2.  Ultrasonic detection of an abnormal mass in a fetus later shown to have trisomy 18.

Authors:  R H Heller; J E Adams; R L Hirschfeld; A J Tapper
Journal:  Prenat Diagn       Date:  1981-07       Impact factor: 3.050

3.  Quantitative and qualitative assay of amniotic-fluid acetylcholinesterase in the prenatal diagnosis of neural tube defects.

Authors:  T Voigtländer; W Friedl; M Cremer; W Schmidt; T M Schroeder
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

  3 in total

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