Secondary findings from non‐invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

No abstract is available for this paper.

• Publication year

  2013

• Venue

  Prenatal Diagnosis

• Publication date

  2013-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/pd.4076PMID 23553438
• 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.

• Response to ”concerns about the statistical methodology described in the ‘Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors’”

  2013cited by this paper
• A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

  2013cited by this paper
• Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience

  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
• Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma.

  2012cited by this paper
• Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

  2012cited by this paper
• Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18.

  2012cited by this paper
• Noninvasive prenatal diagnosis of a fetal microdeletion syndrome.

  2011cited by this paper
• Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

  2011cited by this paper
• Examination of copy number variations of CHST9 in multiple types of hematologic malignancies.

  2010cited by this paper
• Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics

  2010cited by this paper
• Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

  2010cited by this paper
• The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues

  2009cited by this paper
• 18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis

  2007cited by this paper
• Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

  2007cited by this paper
• Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH).

  1998cited by this paper
• Prenatal diagnosis of mosaicism for tetrasomy 18p: cytogenetic, FISH and morphological findings

  1998cited by this paper
• Confined placental mosaicism in term placentae: Analysis of 125 cases

  1995cited by this paper
• Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.

  1986cited by this paper
• Mosaicism of isochromosome 18p.

  1986cited by this paper

• Enhancing Non‐Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy

  2025cites this paper
• The first 2-year prospective audit of prenatal cell-free deoxyribonucleic screening using single nucleotide polymorphisms approach in a single academic laboratory

  2024cites this paper
• Non‐invasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy

  2023cites this paper
• Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells

  2022cites this paper
• Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies

  2022cites this paper
• Non-Invasive Prenatal Testing in Germany

  2022cites this paper
• Comparison of noninvasive prenatal screening for defined pathogenic microdeletion/microduplication syndromes and nonsyndromic copy number variations: a large multicenter study.

  2022cites this paper
• Peripheral Blood Microbiome Analysis via Noninvasive Prenatal Testing Reveals the Complexity of Circulating Microbial Cell-Free DNA

  2022cites this paper
• Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies.

  2022cites this paper
• Non-invasive Prenatal Testing for Fetal Whole Genome Sequencing: An Interpretive Critical Review of the Ethical, Legal, Social, and Policy Implications

  2022cites this paper
• Effective Identification of Maternal Malignancies in Pregnancies Undergoing Noninvasive Prenatal Testing

  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
• Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

  2021cites this paper
• Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

  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
• Analysis of 17,428 pregnant women undergoing non-invasive prenatal testing for fetal chromosome in Northeast China

  2021cites this paper
• cfDNA deconvolution via NIPT of a pregnant woman after bone marrow transplant and donor egg IVF

  2021cites this paper
• Noninvasive prenatal testing aids identification of tetrasomy 18p: A case report

  2020cites this paper
• Direct Assessment of Single-Cell DNA Using Crudely Purified Live Cells: A Proof of Concept for Noninvasive Prenatal Definitive Diagnosis.

  2020cites this paper
• High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?

  2020cites this paper
• Non-invasive prenatal testing

  2020cites this paper
• Non-invasive Prenatal Testing for Assessing Fetal Sex Chromosome Aneuploidy: A Retrospective Study of 45773 Cases

  2020cites this paper
• Prenatal testing

  2020cites this paper
• Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases

  2020cites this paper
• Clinical performance of Non-invasive prenatal testing for sex chromosomal aneuploidies in Northeast China

  2020cites this paper
• Noninvasive Prenatal Testing for Fetal XXY Aneuploidies Among Pregnancies in Beijing of China

  2020cites this paper
• Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

  2020cites this paper
• Loss of heterozygosity by SCRaMbLEing

  2019cites this paper
• Application of next-generation sequencing for the diagnosis of fetuses with congenital heart defects

  2019cites this paper
• Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis

  2019cites this paper
• Annual Review of Biomedical Engineering Single-Cell Omics Analyses Enabled by Microchip Technologies

  2019cites this paper
• Noninvasive Prenatal Testing Using Next Generation Sequencing: Pilot Experience of the D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology

  2019cites this paper
• Novel perspectives in fetal biomarker implementation for the noninvasive prenatal testing

  2019cites this paper
• Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests

  2019cites this paper
• Single-Cell Omics Analyses Enabled by Microchip Technologies.

  2019cites this paper
• Prenatal reflex DNA screening for trisomies 21, 18, and 13

  2018cites this paper
• Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening

  2018cites this paper
• Biological explanations for discordant noninvasive prenatal test results: Preliminary data and lessons learned

  2018cites this paper
• Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

  2018cites this paper
• Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women

  2018cites this paper
• Copy number variation profile in noninvasive prenatal testing (NIPT) can identify co-existing maternal malignancies: Case reports and a literature review.

  2018cites this paper
• Genetic Counselors’ Preparedness for Incidental Findings from Non-Invasive Prenatal Testing

  2018cites this paper
• Genetic Counselors ’ Preparedness for Incidental Findings from Non-Invasive Prenatal Testing

  2018cites this paper
• No 348-Directive clinique de la SOGC et du CCGM : mise à jour sur le dépistage prénatal de l’aneuploïdie fœtale, des anomalies fœtales et des issues défavorables de la grossesse

  2017cites this paper
• Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome.

  2017cites this paper
• No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes.

  2017cites this paper
• Genetic Disorders Associated with Gonadal Dysfunction

  2017cites this paper
• Ny fostertest ble svaret, men hva var spørsmålet?

  2017cites this paper
• Contribution of maternal copy number variations to false‐positive fetal trisomies detected by noninvasive prenatal testing

  2017cites this paper
• Noninvasive Prenatal Testing - When Is It Advantageous to Apply

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

  2017cites this paper
• Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations.

  2017cites this paper
• Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing

  2017influential citation
• Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening.

  2017cites this paper
• JOINT SOGC-CCMG CLINICAL PRACTICE GUIDELINE No . 348 , September 2017 No . 348-Joint SOGC-CCMG Guideline : Update on Prenatal Screening for Fetal Aneuploidy , Fetal Anomalies , and Adverse Pregnancy Outcomes

  2017cites this paper
• Author's reply to Grati and Benn

  2017cites this paper
• Detection of fetal copy number variants by non‐invasive prenatal testing for common aneuploidies

  2016cites this paper
• PRECISION REPRODUCTIVE MEDICINE: THE DAWN OF PRE-IVF GENETIC SCREENING

  2016cites this paper
• Prenatal and preimplantation genetic diagnosis

  2016cites this paper
• Non-invasive Prenatal Testing: The Problem with “Fast Cars”.

  2016cites this paper
• Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

  2016cites this paper
• Maternal Plasma DNA and RNA Sequencing for Prenatal Testing.

  2016cites this paper
• Les tests non invasifs en période prénatale : avantages et limites

  2016cites this paper
• Genomic futures of prenatal screening: ethical reflection

  2016cites this paper
• Aneuploidy Screening: The Ongoing Role of First-Trimester Ultrasound

  2016cites this paper
• Leading The Way in Genetic Fertility Screening FERTILITY GENETICS # 1 IN GENETIC FERTILITY SCREENING Volume 1 MAGAZINE IS THERE A SMALL RNA FINGERPRINT OF EMBRYO QUALITY AND HEALTH IN SPENT IVF MEDIA ?

  2016cites this paper
• ADN lliure en plasma matern: marcadors d’ADN fetal i detecció d’anomalies cromosòmiques d’origen patern

  2016cites this paper
• Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.

  2016cites this paper
• Cell-free fetal DNA (cffDNA) enrichment for non-invasive prenatal testing (NIPT) : a comparison of molecular techniques

  2016cites this paper
• Cell-Free Fetal DNA Testing for Prenatal Diagnosis.

  2016cites this paper
• Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

  2016cites this paper
• Clinical implementation of NIPT – technical and biological challenges

  2016cites this paper
• Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

  2016cites this paper
• Implementation of non‐invasive prenatal testing by semiconductor sequencing in a genetic laboratory

  2016cites this paper
• Prenatal and pre-implantation genetic diagnosis

  2016cites this paper
• Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

  2015cites this paper
• Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

  2015cites this paper
• Prenatal screening: current practice, new developments, ethical challenges.

  2015cites this paper
• Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

  2015cites this paper
• Effect of administration of antihelminthics for soil-transmitted helminths during pregnancy.

  2015cites this paper
• Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues.

  2015cites this paper
• Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

  2015cites this paper
• Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

  2015cites this paper
• Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

  2015cites this paper
• Update Ersttrimesterscreening – was ist neu in 2015?

  2015cites this paper
• Noninvasive Prenatal Screening and Diagnosis Using Cell‐free Fetal DNA

  2015cites this paper
• Fetal CNAPS – DNA/RNA

  2015cites this paper
• Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing.

  2015influential citation
• Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

  2015cites this paper
• Recommended pre‐test counseling points for noninvasive prenatal testing using cell‐free DNA: a 2015 perspective

  2015influential citation
• Cell-free DNA screening for fetal aneuploidy as a clinical service.

  2015cites this paper
• Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing.

  2015cites this paper
• Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non‐invasive prenatal testing and implications for test accuracy

  2015cites this paper
• Cell-free nucleic acids as non-invasive biomarkers of gynecological disorders, fetal aneuploidy and constitutional maternal chromosomal mosaicism.

  2015cites this paper
• Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

  2015cites this paper
• Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection caused by Maternal Copy Number Variation

  2015cites this paper
• Copy-number variation and false positive prenatal aneuploidy screening results.

  2015cites this paper
• Cell‐free fetal DNA: the new tool in fetal medicine

  2015cites this paper
• Will the introduction of non‐invasive prenatal testing for Down's syndrome undermine informed choice?

  2015cites this paper