Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor.

No abstract is available for this paper.

• Publication year

  2016

• Venue

  American Journal of Obstetrics and Gynecology

• Publication date

  2016-09-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.ajog.2016.04.029PMID 27131582
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• "Presence of Fetal DNA in Maternal Plasma and Serum" (1997), by Dennis Lo, et al

  2018cited by this paper
• The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis.

  2017cited by this paper
• Cell-Free DNA Screening for Fetal Aneuploidy

  2017cited by this paper
• Integrating Microarrays into Routine Prenatal Diagnosis: Determinants of Decision Making

  2016cited by this paper
• Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders

  2016cited by this paper
• Risk of fetal loss associated with invasive testing following combined first‐trimester screening for Down syndrome: a national cohort of 147 987 singleton pregnancies

  2016cited by this paper
• Practice Bulletin No. 163: Screening for Fetal Aneuploidy

  2016cited by this paper
• Long-term neurologic outcomes after common fetal interventions.

  2015cited by this paper
• Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

  2015cited by this paper
• Helping providers interpret cell-free fetal DNA testing.

  2015cited by this paper
• Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test.

  2015cited by this paper
• Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.

  2015cited by this paper
• Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis

  2015cited by this paper
• 2: Cell free DNA analysis vs sequential screening as primary testing considering all fetal chromosomal abnormalities

  2015cited by this paper
• Current controversies in prenatal diagnosis 3: the ethical and counseling implications of new genomic technologies: all pregnant women should be offered prenatal diagnostic genome‐wide testing for prenatally identified fetal congenital anomalies

  2015influential reference
• Cell free DNA testing-interpretation of results using an online calculator.

  2015cited by this paper
• Accurate description of DNA-based noninvasive prenatal screening.

  2015cited by this paper
• Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis.

  2015influential reference
• Clinical Validation of a Non-Invasive Prenatal Test for Genome-Wide Detection of Fetal Copy Number Variants

  2015cited by this paper
• Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing.

  2015cited by this paper
• Cell‐free fetal DNA screening in the USA: a cost analysis of screening strategies

  2015cited by this paper
• Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.

  2015influential reference
• Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta‐analysis

  2015cited by this paper
• 148: Increased nuchal translucency and normal karyotype: value of additional testing

  2014cited by this paper
• Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?

  2014cited by this paper
• Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.

  2014influential reference
• Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

  2014cited by this paper
• DNA sequencing versus standard prenatal aneuploidy screening.

  2014influential reference
• Clinical utility and cost of non-invasive prenatal testing

  2014cited by this paper
• Microarray-Based Cell-Free DNA Analysis Improves Noninvasive Prenatal Testing

  2014cited by this paper
• DNA sequencing versus standard prenatal aneuploidy screening.

  2014cited by this paper
• Theoretical performance of non‐invasive prenatal testing for chromosome imbalances using counting of cell‐free DNA fragments in maternal plasma

  2014cited by this paper
• ACMG position statement on prenatal/preconception expanded carrier screening

  2013cited by this paper
• Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples

  2013influential reference
• Maternal cfDNA screening for Down syndrome – a cost sensitivity analysis

  2013cited by this paper
• The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

  2013cited by this paper
• Non‐invasive prenatal testing for aneuploidy: current status and future prospects

  2013cited by this paper
• Noninvasive prenatal testing: the paradigm is shifting rapidly

  2013cited by this paper
• Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns

  2013influential reference
• Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis.

  2013cited by this paper
• ACMG statement on noninvasive prenatal screening for fetal aneuploidy

  2013cited by this paper
• Nearly a third of abnormalities found after first‐trimester screening are different than expected:10‐year experience from a single center

  2013cited by this paper
• Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

  2012cited by this paper
• Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single‐centre study

  2012influential reference
• Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

  2012cited by this paper
• Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.

  2012cited by this paper
• Noninvasive Whole-Genome Sequencing of a Human Fetus

  2012cited by this paper
• Chromosomal microarray versus karyotyping for prenatal diagnosis.

  2012influential reference
• Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

  2012cited by this paper
• Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting.

  2011cited by this paper
• Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

  2010influential reference
• Invasive Prenatal Testing for Aneuploidy

  2009cited by this paper
• Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art

  2009cited by this paper
• Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

  2008cited by this paper
• Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

  2008cited by this paper
• Sometimes doing the right thing sucks: frame combinations and multi-fetal pregnancy reduction decision difficulty.

  2007cited by this paper
• Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss.

  2007cited by this paper
• Pregnancy loss rates after midtrimester amniocentesis.

  2007cited by this paper
• Pregnancy Loss Rates After Midtrimester Amniocentesis

  2006cited by this paper
• Chorionic Villus Sampling Compared With Amniocentesis and the Difference in the Rate of Pregnancy Loss

  2006cited by this paper
• First-trimester or second-trimester screening, or both, for Down's syndrome.

  2005cited by this paper
• Nuchal Translucency Thickness in Fetuses With Chromosomal Translocation at 11–12 Weeks of Gestation

  2005cited by this paper
• Technology in American Health Care: Policy Directions for Effective Evaluation and Management

  2004cited by this paper
• International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used.

  1999cited by this paper
• Presence of fetal DNA in maternal plasma and serum.

  1997cited by this paper
• The introduction of new technologies

  1997cited by this paper
• The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.

  1989cited by this paper

• Whole exome sequencing: a new era in prenatal diagnostics.

  2026cites this paper
• Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.

  2026cites this paper
• Ethical Dilemmas and Challenges in the Application of Prenatal Diagnostics

  2025cites this paper
• Balancing how much we want to know with what we are willing to pay: A comparative cost analysis of prenatal cytogenetic testing and screening strategies.

  2025cites this paper
• Prevalence and phenotypic findings of pathogenic or likely pathogenic copy number variants in 10,537 pregnancies

  2025cites this paper
• Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study

  2025cites this paper
• The evolution of cell-free fetal DNA testing: expanded non-invasive prenatal testing and its effect on target populations

  2025cites this paper
• Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities

  2025influential citation
• Evaluating the effectiveness of routine noninvasive prenatal screening for CNVs in 22q11.2 region in a cohort of 38,495 pregnancies

  2025cites this paper
• Correlation between maternal serum biomarkers and the risk of fetal chromosome copy number variants: a single-center retrospective study

  2024cites this paper
• Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals

  2024cites this paper
• Efficiency of Non-Invasive Prenatal Testing in Detecting Fetal Copy Number Variation: A Retrospective Cohort Study

  2024cites this paper
• Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies

  2024cites this paper
• Reframing antepartum and intrapartum surveillance.

  2024cites this paper
• A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples

  2024cites this paper
• Clinical value of positive CNVs results by NIPT without fetal ultrasonography‐identified structural anomalies

  2024influential citation
• Comparison of the combined use of CNV-seq and karyotyping or QF-PCR in prenatal diagnosis: a retrospective study

  2023cites this paper
• Etiology and Ontogeny of Cerebral Palsy: Implications for Practice and Research

  2023cites this paper
• Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

  2023cites this paper
• Noninvasive prenatal screening with conventional sequencing depth to screen fetal copy number variants: A retrospective study of 19 144 pregnant women

  2023cites this paper
• Fetal hyperechoic kidney cohort study and a meta-analysis

  2023cites this paper
• Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans

  2023cites this paper
• The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis

  2023cites this paper
• The predictive value of noninvasive prenatal screening for copy number variations: a cohort study and a systematic meta-analysis

  2023cites this paper
• Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation

  2023cites this paper
• Parental Psychological Distress of Missed Diagnosis of Down Syndrome at Antenatal Screening: A Rare, but Still Real Occurrence – A Case Report and Review of Literature

  2023cites this paper
• Improving the interpretation of electronic fetal monitoring: the fetal reserve index.

  2023cites this paper
• Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

  2023cites this paper
• Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome

  2023cites this paper
• The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration

  2022cites this paper
• Resistance to Change

  2022cites this paper
• Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis

  2022cites this paper
• Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies

  2022cites this paper
• Application of chromosome microarray analysis and karyotyping in diagnostic assessment of abnormal Down syndrome screening results

  2022cites this paper
• Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.

  2022cites this paper
• Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines

  2022cites this paper
• The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics

  2022cites this paper
• Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review

  2022cites this paper
• Fetal reduction for everyone?

  2022cites this paper
• Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing

  2021cites this paper
• Patient attitudes toward prenatal diagnostic testing during antenatal care in an urban population

  2021cites this paper
• Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis

  2021cites this paper
• Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered

  2021cites this paper
• Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

  2021cites this paper
• Understanding False Negative in Prenatal Testing

  2021cites this paper
• The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes

  2021cites this paper
• Expanded Noninvasive Prenatal Testing for Chromosomal aneuploidies and Copy Number Variants in a Cohort of 16128 Single Pregnancies

  2021cites this paper
• Fetal Reduction and Twins.

  2021cites this paper
• Fetomaternal microchimerism and genetic diagnosis: On the origins of fetal cells and cell-free fetal DNA in the pregnant woman.

  2021cites this paper
• Knowledge, attitudes, and practices of healthcare professionals working in prenatal diagnosis toward expanded non‐invasive prenatal testing in China

  2021cites this paper
• Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

  2021cites this paper
• New cut-off values for screening of trisomy 21, 18 and open neural tube defects (ONTD) during the second trimester in pregnant women with advanced maternal age

  2020cites this paper
• Personalized medicine for the embryo and the fetus – Options in modern genetics influence preconception and prenatal choices

  2020cites this paper
• Evidence for Routine Ultrasound Screening for Fetal Abnormalities in the Second and Third Trimesters

  2020cites this paper
• Influence of the detection of parent-of-origin on the pregnancy outcomes of fetuses with copy number variation of unknown significance

  2020cites this paper
• How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study.

  2020cites this paper
• Effects of prenatal ultrasonographic imaging feature analysis on diagnostic accuracy of fetal urethral diseases

  2020cites this paper
• Prenatal Testing or Screening?

  2020cites this paper
• A cross-sectional survey of pregnant women's knowledge of chromosomal aneuploidy and microdeletion and microduplication syndromes.

  2020cites this paper
• Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis.

  2019cites this paper
• Re-engineering the interpretation of electronic fetal monitoring to identify reversible risk for cerebral palsy: a case control series

  2019cites this paper
• Fetal Reduction and Selective Termination

  2019cites this paper
• Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

  2019cites this paper
• The current and future impact of genome-wide sequencing on fetal precision medicine

  2019cites this paper
• Population‐based trends in invasive prenatal diagnosis for ultrasound‐based indications: two decades of change from 1994 to 2016

  2019cites this paper
• The contingent use of cell-free fetal DNA for prenatal screening of trisomies 21, 18, 13 in pregnant women within a national health service: A budget impact analysis

  2019cites this paper
• Impact of introduction of noninvasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies

  2019cites this paper
• Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

  2019cites this paper
• Factors associated with common and atypical chromosome abnormalities after positive combined first-trimester screening in Chinese women: a retrospective cohort study

  2019cites this paper
• The price of abandoning diagnostic testing for cell free fetal DNA screening

  2019cites this paper
• Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers.

  2019cites this paper
• Title: Population-based trends in ultrasound-indicated prenatal diagnosis from 1994 to 2016: two decades of change

  2019cites this paper
• The price of abandoning diagnostic testing for cell‐free fetal DNA screening

  2018cites this paper
• Sequencing of Circulating Cell‐free DNA during Pregnancy

  2018cites this paper
• Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing

  2018cites this paper
• Diagnostic differences between patients opting for non-invasive prenatal testing and patients having traditional prenatal diagnosis.

  2018cites this paper
• The impact of third-trimester genetic counseling

  2018cites this paper
• Refining the Prediction and Prevention of Emergency Operative Deliveries with the Fetal Reserve Index

  2018cites this paper
• Optimizing use of existing prenatal genetic tests: Screening and diagnostic testing for aneuploidy.

  2018cites this paper
• What would be missed in the first trimester if nuchal translucency measurement is replaced by cell free DNA foetal aneuploidy screening?

  2018cites this paper
• Conseil génétique en médecine fœtale

  2018cites this paper
• The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

  2018cites this paper
• Prenatal diagnostic testing and atypical chromosome abnormalities following combined first‐trimester screening: implications for contingent models of non‐invasive prenatal testing

  2018cites this paper
• DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures.

  2018cites this paper
• Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial

  2018cites this paper
• The Human Genome and Neonatal Care

  2018cites this paper
• Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

  2017cites this paper
• Re-Thinking Elective Single Embryo Transfer: Increased Risk of Monochorionic Twinning - A Systematic Review

  2017cites this paper
• Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis

  2017cites this paper
• Effectiveness of 12–13‐week scan for early diagnosis of fetal congenital anomalies in the cell‐free DNA era

  2017cites this paper
• Dilemmas in genetic counseling for low‐penetrance neuro‐susceptibility loci detected on prenatal chromosomal microarray analysis

  2017cites this paper
• Positive predictive value estimates for cell‐free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

  2017cites this paper
• Chromosome copy number variants in fetuses with syndromic malformations

  2017cites this paper
• Reply

  2017cites this paper
• Non‐invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study

  2017cites this paper
• Non-invasive prenatal testing.

  2017cites this paper
• Challenges in non‐invasive prenatal screening for sub‐chromosomal copy number variations using cell‐free DNA

  2017cites this paper
• Current controversies in prenatal diagnosis 3: industry drives innovation in research and clinical application of genetic prenatal diagnosis and screening

  2016cites this paper
• Revisiting the challenges of training Maternal Fetal Medicine fellows in chorionic villus sampling.

  2016cites this paper
• Screening and Testing in Multiples.

  2010cites this paper