Premium
Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin
Author(s) -
Weiss Amir,
Shalev Stavit,
Weiner Ehud,
Shneor Yona,
Shalev Eliezer
Publication year - 2003
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.645
Subject(s) - amniocentesis , prenatal diagnosis , chorionic villi , trisomy , down syndrome , karyotype , medicine , chorionic villus sampling , aneuploidy , pregnancy , fetus , endocrinology , andrology , chromosome , biology , genetics , gene , psychiatry
Abstract 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. Copyright © 2003 John Wiley & Sons, Ltd.