Aneuploidy and cystic hygroma detectable by ultrasound.
During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.
D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003937:Diagnosis, Differential; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005313:Fetal Death / Q000175:diagnosis; D006258:Head and Neck Neoplasms / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008202:Lymphangioma / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy; D014424:Turner Syndrome / Q000175:diagnosis; D014463:Ultrasonography / Q000379:methods*; D000509:alpha-Fetoproteins / Q000378:metabolism
D000509:alpha-Fetoproteins