ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 2 of them syntheses that pooled it.
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Who cites it
121 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic diagnosis in fetuses with biliary tract system abnormalities: a meta-analysis and systematic review.BMC pregnancy and childbirth · 2026Pooled it
- Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.Molecular genetics & genomic medicine · 2020Pooled it
- Diagnostic Testing After Positive Cell-Free DNA Screening for Sex Chromosome Aneuploidies: Clinical and Socioeconomic Determinants.Prenatal diagnosis · 2026Article
- Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis.Journal of medical screening · 2026Article
- NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies.Archives of gynecology and obstetrics · 2026Article
- Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential.Prenatal diagnosis · 2026Article
- An integrated multi-factor decision model for personalized NIPT timing using BMI stratification.Scientific reports · 2026Article
- Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings.Archives of gynecology and obstetrics · 2026Article
- Promoter landscape of maternal plasma DNA reveals predictive signatures of fetal growth restriction.Human genomics · 2026Article
- Article
- A prospective study of non-invasive prenatal screening technology in preimplantation genetic testing cycles.Frontiers in medicine · 2026Article
- Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review.International journal of women's health · 2026Article
- Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing.Frontiers in genetics · 2026Article
- Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies.Scientific reports · 2025Article
- Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Genome medicine · 2025Article
- Results and indications changes by prenatal diagnosis of 3,458 pregnant women: a 10-year retrospective study.Annals of medicine · 2025Article
- Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.Prenatal diagnosis · 2025Article
- Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome.Scientific reports · 2025Article
- Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.Scientific reports · 2025Article
- Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).Scientific reports · 2025Article
61 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess the clinical performance of an expanded noninvasive prenatal screening (NIPS) test ("NIPS-Plus") for detection of both aneuploidy and genome-wide microdeletion/microduplication syndromes (MMS).
methodsA total of 94,085 women with a singleton pregnancy were prospectively enrolled in the study. The cell-free plasma DNA was directly sequenced without intermediate amplification and fetal abnormalities identified using an improved copy-number variation (CNV) calling algorithm.
resultsA total of 1128 pregnancies (1.2%) were scored positive for clinically significant fetal chromosome abnormalities. This comprised 965 aneuploidies (1.026%) and 163 (0.174%) MMS. From follow-up tests, the positive predictive values (PPVs) for T21, T18, T13, rare trisomies, and sex chromosome aneuploidies were calculated as 95%, 82%, 46%, 29%, and 47%, respectively. For known MMS (n = 32), PPVs were 93% (DiGeorge), 68% (22q11.22 microduplication), 75% (Prader-Willi/Angleman), and 50% (Cri du Chat). For the remaining genome-wide MMS (n = 88), combined PPVs were 32% (CNVs ≥10 Mb) and 19% (CNVs <10 Mb).
conclusionNIPS-Plus yielded high PPVs for common aneuploidies and DiGeorge syndrome, and moderate PPVs for other MMS. Our results present compelling evidence that NIPS-Plus can be used as a first-tier pregnancy screening method to improve detection rates of clinically significant fetal chromosome abnormalities.
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