Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin.
Prenatal diagnosis of 5p deletion syndrome, or cri du chat, following an abnormally low measurement of a screening of serum human chorionic gonadotrophin (hCG), is reported. Karyotyping following amniocentesis revealed a terminal deletion in the short arm of one chromosome 5. The pregnancy was electively terminated. 5p deletion syndrome has been described with abnormally high hCG levels and normal hCG levels. This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed.
Weiss
Amir
A
Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula 18101, Israel.
Shalev
Stavit
S
Weiner
Ehud
E
Shneor
Yona
Y
Shalev
Eliezer
E
D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood*; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis
D018997:Chorionic Gonadotropin, beta Subunit, Human