无创产前检测（NIPT）结果正常的胎儿中13号染色体的末端缺失：NIPT时代侵入性产前诊断的附加价值

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.

Vervecken Evy, Blaumeiser Bettina, Vanderheyden Tina, Hauspy Jan, Janssens Katrien

Department of Obstetrics and Gynaecology GZA Hospitals St. Augustinus Wilrijk Belgium.

Center of Medical Genetics University Hospital and University of Antwerp Antwerp Belgium.

Clin Case Rep. 2020 May 13;8(8):1461-1466. doi: 10.1002/ccr3.2889. eCollection 2020 Aug.

In the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era.