[Prenatal diagnosis and obstetric management in association of hydramnios and homozygosity].
The patient was referred to hospital in the 29th week of gestation owing to polyhydramnions. Ultrasonography revealed isolated left-sided hypertrophy (from foetal chest to the lower extremity) with subcutaneous lymph cysts. Amniocentesis for genetic examination revealed a chromosomal disorder showing homozygous t(13q, 14q) translocation. This extremely rare anomaly could be explained only and was finally proven by a father-daughter incest. The authors underline the necessity of karyotyping as well as the ultrasonic exclusion of foetal malformations in patients with polyhydramnions.
Zienert
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Klinik und Poliklinik für Gynäkologie und Geburtshilfe, Bereiches Medizin, (Charité) der Humboldt-Universität zu Berlin.
Bollmann
R
R
Schilling
H
H
Chaoui
R
R
Witkowski
R
R
Altmann
G
G
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D003560:Cysts / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D007179:Incest; D006831:Polyhydramnios / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014463:Ultrasonography
Pränatale Diagnose und geburtshilfliches Management bei Assoziation von Hydramnion und Homozygotie.