Late first-trimester ultrasound findings can alter management after high-risk NIPT result.
Fergus P ScottMaria-Elisabeth SmetJ ElhindiR MograL SunderlandA FerreiraM MenezesS MeagherAndrew C McLennanPublished in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2023)
LTFU after a high-risk NIPT result can alter the PPV of many chromosomal abnormalities, assisting counselling regarding invasive prenatal testing and pregnancy management. The high PPV for trisomy 21 and 18 NIPT results are not sufficiently modified by normal LFTU findings to alter management and these patients should be offered a CVS for earlier diagnosis, particularly as there is a low rate of placental mosaicism with these aneuploidies. Patients with a high-risk NIPT result for trisomy 13 and normal LFTU findings often await amniocentesis or avoid invasive testing altogether given the low PPV and higher rate of CPM in this context. This article is protected by copyright. All rights reserved.