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Multicenter Study
. 2020 Oct;40(11):1474-1481.
doi: 10.1002/pd.5799. Epub 2020 Aug 9.

Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies

Nicola Persico  1   2 , Simona Boito  1 , Paolo Volpe  3 , Benedetta Ischia  1 , Mattia Gentile  4 , Luisa Ronzoni  5 , Valentina De Robertis  3 , Isabella Fabietti  1 , Claudiana Olivieri  3 , Enrico Periti  6 , Romina Ficarella  4 , Rosamaria Silipigni  7 , Georgios Rembouskos  3
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Free article
Multicenter Study

Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies

Nicola Persico et al. Prenat Diagn. 2020 Oct.
Free article

Abstract

Objective: To examine the incidence and type of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cfDNA test for common trisomies.

Methods: In 486 singleton pregnancies undergoing invasive testing after combined screening, a detailed first trimester ultrasound assessment was carried out and a maternal blood sample was sent for cfDNA analysis. Ultrasound and cfDNA data were analyzed in relation to fetal karyotype.

Results: Invasive testing demonstrated a chromosomal abnormality in 157 (32.3%) of 486 fetuses. In 348 cases with a low-risk cfDNA test for common trisomies, NT ≥ 3.5 mm and/or a major structural defect were observed in 92 (26.4%) fetuses. A chromosomal abnormality was found in 17 (18.5%; 95%CI 10.55-26.41) of these pregnancies, including 1 (1.1%) case of trisomy 21 and 16 (17.4%) fetuses with abnormalities different from common trisomies. The respective incidence in the 256 cases with a low-risk cfDNA test result and no ultrasound anomalies was 2.3% (95% CI 0.49-4.20; n = 6).

Conclusions: In fetuses with first trimester ultrasound anomalies and a low-risk cfDNA result for trisomy 21, 18 and 13, diagnostic testing should be offered with the main objective to detect chromosomal abnormalities beyond common trisomies.

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