Weiss Amir, Shalev Stavit, Weiner Ehud, Shneor Yona, Shalev Eliezer
Department of Obstetrics and Gynecology, Ha'Emek Medical Center, Afula 18101, Israel.
Prenat Diagn. 2003 Jul;23(7):572-4. doi: 10.1002/pd.645.
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.
据报道，在血清人绒毛膜促性腺激素（hCG）筛查测量值异常偏低后，对5p缺失综合征（又称猫叫综合征）进行了产前诊断。羊膜穿刺术后的核型分析显示一条5号染色体短臂存在末端缺失。该妊娠被选择性终止。5p缺失综合征曾有hCG水平异常升高和hCG水平正常的报道。这是首次报道其与hCG水平异常偏低有关。本文讨论了染色体异常与hCG之间的关联。
