Discordant findings in genome-wide noninvasive prenatal testing for rare chromosomal abnormalities, adverse pregnancy outcomes, and maternal malignancies: a systematic review and meta-analysis.
메타분석
3/5 보강
OpenAlex 토픽 ·
Prenatal Screening and Diagnostics
BRCA gene mutations in cancer
Genomic variations and chromosomal abnormalities
[OBJECTIVE] Genome-wide noninvasive prenatal testing has introduced new challenges in clinical interpretation, for example, due to discrepancies between noninvasive prenatal testing and confirmatory i
APA
Márton Kónya, Ágnes Czimbalmos, et al. (2026). Discordant findings in genome-wide noninvasive prenatal testing for rare chromosomal abnormalities, adverse pregnancy outcomes, and maternal malignancies: a systematic review and meta-analysis.. American journal of obstetrics and gynecology, 234(5), 1342-1354. https://doi.org/10.1016/j.ajog.2025.11.029
MLA
Márton Kónya, et al.. "Discordant findings in genome-wide noninvasive prenatal testing for rare chromosomal abnormalities, adverse pregnancy outcomes, and maternal malignancies: a systematic review and meta-analysis.." American journal of obstetrics and gynecology, vol. 234, no. 5, 2026, pp. 1342-1354.
PMID
41297782 ↗
Abstract 한글 요약
[OBJECTIVE] Genome-wide noninvasive prenatal testing has introduced new challenges in clinical interpretation, for example, due to discrepancies between noninvasive prenatal testing and confirmatory invasive results caused by confined placental mosaicism. These discordant cases often involve rare autosomal trisomies, frequently attributed to placental mosaicism. Complex, multichromosomal false-positive genome-wide noninvasive prenatal testing results are usually not due to placental mosaicism but rather to maternal malignancy, for example. This study aimed to assess chromosome-specific associations with pregnancy complications and uniparental disomy in false-positive rare autosomal trisomies and the prevalence of maternal malignancies in complex, multichromosomal genome-wide noninvasive prenatal testing results.
[DATA SOURCES] A systematic search of 5 databases-MEDLINE (via PubMed), Embase, Cochrane, Scopus, and Web of Science-was conducted on August 28, 2025.
[STUDY ELIGIBILITY CRITERIA] Cohort studies using massively parallel sequencing were included. The study population was pregnant women who had undergone genome-wide noninvasive prenatal testing and had a known pregnancy outcome.
[STUDY APPRAISAL AND SYNTHESIS METHODS] Data extraction followed a standardized protocol, risk of bias was assessed using the Quality in Prognostic Studies tool, and statistical analyses were performed in R (v4.1.2) using a random-effects model.
[RESULTS] Sixteen eligible studies encompassing 681,633 pregnancies were included. Rare autosomal trisomy-positive results occurred in only 0.2% of cases and 80% were false positives. Notably, ∼35% of these were associated with adverse pregnancy outcomes, predominantly involving chromosomes 2, 4, 11, 16, and 22. Uniparental disomy was most commonly associated with trisomies 15 and 16. In cases with complex genome-wide noninvasive prenatal testing findings, 40% were ultimately diagnosed with maternal malignancy, primarily breast cancer and lymphoma.
[CONCLUSION] Discordant genome-wide noninvasive prenatal testing results are associated with an increased risk of placenta-mediated complications. Among rare autosomal trisomies, trisomy 16 and, to a lesser extent, trisomy 4 consistently showed the highest risks. These results imply that chromosome-specific risk stratification could inform prenatal counseling and follow-up. Additionally, complex, multichromosomal genome-wide noninvasive prenatal testing results were occasionally associated with maternal malignancies. This emphasizes the importance of considering both maternal and fetal contributions when interpreting such results.
[DATA SOURCES] A systematic search of 5 databases-MEDLINE (via PubMed), Embase, Cochrane, Scopus, and Web of Science-was conducted on August 28, 2025.
[STUDY ELIGIBILITY CRITERIA] Cohort studies using massively parallel sequencing were included. The study population was pregnant women who had undergone genome-wide noninvasive prenatal testing and had a known pregnancy outcome.
[STUDY APPRAISAL AND SYNTHESIS METHODS] Data extraction followed a standardized protocol, risk of bias was assessed using the Quality in Prognostic Studies tool, and statistical analyses were performed in R (v4.1.2) using a random-effects model.
[RESULTS] Sixteen eligible studies encompassing 681,633 pregnancies were included. Rare autosomal trisomy-positive results occurred in only 0.2% of cases and 80% were false positives. Notably, ∼35% of these were associated with adverse pregnancy outcomes, predominantly involving chromosomes 2, 4, 11, 16, and 22. Uniparental disomy was most commonly associated with trisomies 15 and 16. In cases with complex genome-wide noninvasive prenatal testing findings, 40% were ultimately diagnosed with maternal malignancy, primarily breast cancer and lymphoma.
[CONCLUSION] Discordant genome-wide noninvasive prenatal testing results are associated with an increased risk of placenta-mediated complications. Among rare autosomal trisomies, trisomy 16 and, to a lesser extent, trisomy 4 consistently showed the highest risks. These results imply that chromosome-specific risk stratification could inform prenatal counseling and follow-up. Additionally, complex, multichromosomal genome-wide noninvasive prenatal testing results were occasionally associated with maternal malignancies. This emphasizes the importance of considering both maternal and fetal contributions when interpreting such results.