Fetal holoprosencephaly: associated malformations and chromosomal defects.
In 38 fetuses with holoprosencephaly, cordocentesis and blood karyotyping was performed. The karyotype was normal in all 12 cases with isolated holoprosencephaly, and in all 5 with holoprosencephaly and facial defects only. In contrast, 11 of the 21 (52%) fetuses with extrafacial malformations were chromosomally abnormal [47xx+13, n = 6; 47xy+13, n = 2; 47xx+18, n = 1; 46xx-18+i(18q), n = 1; 46xy 21q-, n = 1]. In the chromosomally normal group, there was parental consanguinity in 2 cases and recurrence of holoprosencephaly in 3.
Berry
S M
SM
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Denmark Hill, London, UK.
Gosden
C
C
Snijders
R J
RJ
Nicolaides
K H
KH
D000328:Adult; D005260:Female; D005312:Fetal Blood; D005865:Gestational Age; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012306:Risk; D014463:Ultrasonography