In:
Prenatal Diagnosis, Wiley, Vol. 43, No. 2 ( 2023-02), p. 213-225
Abstract:
What's already known about this topic? Prenatal cell‐free DNA (cfDNA) screening for common autosomal trisomies has high sensitivity and specificity. Fewer data are available for sex chromosome aneuploidies (SCAs), which show greater variability in screening performance. Chorionic villus sampling and amniocentesis are available for prenatal diagnosis of high‐risk results. Other chromosome conditions not screened for, including copy number variants (CNVs), may not be recognized until later in pregnancy or after birth. What does this study add? cfDNA screening had high positive predictive values (PPVs) for common trisomies and most SCAs. Trisomy screening performance was high at fetal fractions ≥2.5%. Most women elected chorionic villus sampling for prenatal diagnosis of autosomal trisomies. Amniocentesis or postnatal testing were more common for SCAs. Diagnostic testing in pregnancies with low‐risk cfDNA screening results identified 64/616 (12.7%) cases with chromosome conditions not detected by cfDNA screening, and 0.04% false‐negative cases within the entire cohort.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
1491217-X