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Multicenter Study
. 2022 Oct;42(11):1358-1367.
doi: 10.1002/pd.6238. Epub 2022 Sep 26.

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

Francesca Bardi  1 , Bo B Bet  2   3 , Eva Pajkrt  2   3 , Ingeborg H Linskens  3   4 , Mireille N Bekker  5 , Erik A Sistermans  6 , Caterina M Bilardo  1   2   3 , Ayten Elvan-Taşpınar  1
Affiliations
Multicenter Study

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

Francesca Bardi et al. Prenat Diagn. 2022 Oct.

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 confirmed (one case of Trisomy 13 (detectable by NIPT), two of Triploidy, one of 16q12-deletion, HCN4-mutation and UPD(16) (nondetectable by NIPT). Genetic aberrations were found in 4/298 (1.3%) structurallynormal pregnancies (one 47XYY, two microscopic aberrations, one monogenic disorder found postpartum). Structural anomalies in genetically normal fetuses (2.0%) were not more prevalent compared to the general pregnant population (OR 1.0 [0.4-2.2]).

Conclusion: In pregnancies with twice inconclusive NIPT due to low FF, fetal structural anomalies are not more prevalent than in the general obstetric population. The detailed anatomical assessment has the added value to detect phenotypical features suggestive of chromosomal/genetic aberrations and identify pregnancies where advanced genetic testing may be indicated.

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Conflict of interest statement

All authors declare that they have no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Flowchart patient population
See this image and copyright information in PMC

References

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