Fertility and sterility · 2026
Noninvasive prenatal testing as a prenatal screening test in pregnancies following assisted reproductive technologies: a diagnostic test accuracy systematic review and meta-analysis.
СтатьяМетаанализСистематический обзорНазвание и аннотация: Перевод в очереди
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Kamath Vandana, Sivakumar Madhu Balaji, Callado Gustavo Yano, Neelakandan Anandhita, Dharmaraj Aravind, Samuel Prasanna, Chacko Mary Purna, Rolnik Daniel L, Kamath Mohan S
Аннотация
IMPORTANCE: The accuracy of the noninvasive prenatal testing (NIPT) for common trisomies remains unclear in pregnancies following assisted reproductive technology (ART), and the adoption of NIPT as a prenatal screening test in ART pregnancies has been cautious because of the absence of clear recommendations.
OBJECTIVE: To estimate the accuracy of NIPT for screening for common chromosomal abnormalities compared with conventional karyotype or microarray testing in ART pregnancies.
DATA SOURCES: A comprehensive search of the following: PubMed, Scopus, and Embase.
STUDY SELECTION AND SYNTHESIS: A systematic review and meta-analysis was conducted, and cross-sectional and cohort studies of antenatal women who conceived following ART and opted for prenatal testing with NIPT were included.
MAIN OUTCOMES: Pooled sensitivity and specificity of NIPT for common chromosomal abnormalities (trisomy 21, 18, and 13).
RESULTS: We identified a total of 548 records through electronic searches and finally included 13 studies for quantitative synthesis. The pooled sensitivity and specificity for combined abnormalities in singleton ART pregnancies were 88.2% (95% confidence interval, [CI] 61.0%-97.3%) and 99.6% (95% CI 98.4%-99.9%), respectively. Similarly, for twin ART pregnancies, the pooled sensitivity and specificity for combined abnormalities were 88.2% (95% CI 66.4%-96.6%) and 99.8% (95% CI 99.6%-99.9%), respectively. The pooled sensitivity and specificity for trisomy 21 in singleton ART pregnancies were 87.2% (95% CI 59.0%-97.0%) and 99.7% (95% CI 98.8%-99.9%), respectively, whereas in ART twin pregnancies, the pooled sensitivity was 86.9% (95% CI 63.4%-96.2%) and the specificity was 99.8% (95% CI 99.6%-99.9%).
CONCLUSION AND RELEVANCE: Although the specificity of NIPT is high in ART-conceived pregnancies, its sensitivity in the detection of common fetal chromosomal aneuploidy, in particular trisomy 21, is substantially lower than in naturally conceived pregnancies.
OBJECTIVE: To estimate the accuracy of NIPT for screening for common chromosomal abnormalities compared with conventional karyotype or microarray testing in ART pregnancies.
DATA SOURCES: A comprehensive search of the following: PubMed, Scopus, and Embase.
STUDY SELECTION AND SYNTHESIS: A systematic review and meta-analysis was conducted, and cross-sectional and cohort studies of antenatal women who conceived following ART and opted for prenatal testing with NIPT were included.
MAIN OUTCOMES: Pooled sensitivity and specificity of NIPT for common chromosomal abnormalities (trisomy 21, 18, and 13).
RESULTS: We identified a total of 548 records through electronic searches and finally included 13 studies for quantitative synthesis. The pooled sensitivity and specificity for combined abnormalities in singleton ART pregnancies were 88.2% (95% confidence interval, [CI] 61.0%-97.3%) and 99.6% (95% CI 98.4%-99.9%), respectively. Similarly, for twin ART pregnancies, the pooled sensitivity and specificity for combined abnormalities were 88.2% (95% CI 66.4%-96.6%) and 99.8% (95% CI 99.6%-99.9%), respectively. The pooled sensitivity and specificity for trisomy 21 in singleton ART pregnancies were 87.2% (95% CI 59.0%-97.0%) and 99.7% (95% CI 98.8%-99.9%), respectively, whereas in ART twin pregnancies, the pooled sensitivity was 86.9% (95% CI 63.4%-96.2%) and the specificity was 99.8% (95% CI 99.6%-99.9%).
CONCLUSION AND RELEVANCE: Although the specificity of NIPT is high in ART-conceived pregnancies, its sensitivity in the detection of common fetal chromosomal aneuploidy, in particular trisomy 21, is substantially lower than in naturally conceived pregnancies.