Additional value of advanced ultrasonography in pregnancies with two inconclusive cell-free DNA draws.

ABSTRACT:

Objective

We aimed to evaluate the additional value of advanced fetal anatomical assessment by ultrasound in pregnancies with twice inconclusive noninvasive testing (NIPT) due to low fetal fraction (FF).

Methods

We performed a multicenter-retrospective study between 2017 and 2020 including 311 pregnancies with twice inconclusive NIPT due to low FF ≤ 1%. Women were offered invasive testing and advanced fetal anatomical assessment at ≤18 weeks' gestation. Ultrasound findings, genetic testing, and pregnancy/postnatal outcomes were evaluated.

Results

Ninety-two/311 (29.6%) women underwent invasive testing. Structural anomalies were diagnosed in 13/311 (4.2%) pregnancies (nine at the first scan and four at follow-up). In 6/13 (46.2%) cases, genetic aberrations were confirm

SUBMITTER: Bardi F 

PROVIDER: S-EPMC9828350 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature