In:
Prenatal Diagnosis, Wiley, Vol. 40, No. 11 ( 2020-10), p. 1474-1481
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2020
detail.hit.zdb_id:
1491217-X