In:
Prenatal Diagnosis, Wiley, Vol. 43, No. 2 ( 2023-02), p. 192-206
Abstract:
What is already known about this topic? Cell‐free DNA (cfDNA) screening can detect monosomy X and other X chromosome variants associated with a Turner syndrome phenotype, but performance is poorer than for trisomy 21. Little is known about the performance of cfDNA screening for X chromosome abnormalities in the presence of fetal structural anomalies. What does this study add? A positive cfDNA screening result for monosomy X is more often confirmed when fetal anomalies are detected. In the absence of fetal anomalies, a positive cfDNA screening result is more often a false positive or associated with mosaicism or other X‐chromosome variants.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
1491217-X