1p deletion syndrome: A prenatal diagnosis characterized by an abnormal 1st trimester combined screening test, yet a normal NIPT result

To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result.

Source: Taiwanese Journal of Obstetrics and Gynecology - February 1, 2018 Category: OBGYN Authors: Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang Tags: Case Report Source Type: research