ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Prenatal Screening Via cfDNA - Paired-End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies.Prenatal diagnosis · 2026Article
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- Article
- Determining the origin of genome aberrations improves the positive predictive value of NIPT for 22q11.2 deletion syndrome.Scientific reports · 2025Article
- Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study.Genetics in medicine open · 2025Article
- Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions.Diagnostics (Basel, Switzerland) · 2023Review
- State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions.Prenatal diagnosis · 2023Article
- Genetics in prenatal diagnosis.Singapore medical journal · 2023Review
- Genome-Wide Copy Number Variant and High-Throughput Transcriptomics Analyses of Placental Tissues Underscore Persisting Child Susceptibility in At-Risk Pregnancies Cleared in Standard Genetic Testing.International journal of molecular sciences · 2022Article
- Article
- Diagnostic value of maternal alpha-fetoprotein variants in second-trimester biochemical screening for trisomy 21 and 18.Scientific reports · 2022Article
- Observational
- Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review.Journal of personalized medicine · 2022Article
- Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.BMC pediatrics · 2021Article
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.European journal of medical research · 2021Article
- Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000-2019) and Israel (2011-2019).Frontiers in medicine · 2021Article
- Clinical Efficiency of Non-invasive Prenatal Screening for Common Trisomies in Low-Risk and Twin Pregnancies.Frontiers in genetics · 2021Article
- Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience.Journal of assisted reproduction and genetics · 2020Article
- Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy.Molecular genetics & genomic medicine · 2020Article
- Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39.6% from 2012 to 2015 despite steady births. More than half of all confirmed cases of trisomy 21 were ascertained by NIPS in 2015, despite NIPS comprising only 11.7% of total indications for invasive testing. CFTS uptake declined significantly from 77.5% in 2013 to 68.1% in 2015, but 11- to 13-week ultrasounds did not. In 2015, ultrasound abnormality replaced CFTS as the most common indication for invasive testing and chromosomal microarray was performed for 85.3% of all prenatal karyotypes.ConclusionPrenatal testing is now unequivocally in the genomic era. NIPS is now the screening test that precedes the majority of confirmed diagnoses of trisomy 21. The contributions of NIPS, early ultrasound, and chromosome microarray have led to unprecedented detection rates of major chromosome abnormalities, now found in 20% of all invasive tests.
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