ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases.Frontiers in pediatrics · 2026Review
- Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.Genome medicine · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- Preimplantation genetic testing for embryos predisposed to hereditary cancer: Possibilities and challenges.Cancer pathogenesis and therapy · 2024Review
- Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.Nature medicine · 2023Article
- Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant ofFrontiers in genetics · 2023Article
- Liquid Biopsy, a Potential New Detection Method in Heart Allograft Rejection.Methods in molecular biology (Clifton, N.J.) · 2023Review
- Implication of DNA methylation during lifestyle mediated weight loss.Frontiers in endocrinology · 2023Review
- Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.Cell discovery · 2022Article
- Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours.NPJ genomic medicine · 2022Article
- Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma.International journal of women's health · 2022Article
- Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.Frontiers in genetics · 2022Article
- Expanded knowledge of cell-free DNA biology: potential to broaden the clinical utility.Extracellular vesicles and circulating nucleic acids · 2022Review
- Liquid biopsy: state of reproductive medicine and beyond.Human reproduction (Oxford, England) · 2021Review
- Understanding False Negative in Prenatal Testing.Diagnostics (Basel, Switzerland) · 2021Review
- Review
- Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay forFrontiers in genetics · 2021Article
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 4 countries.
Funding
Abstract
purposeWhereas noninvasive prenatal screening for aneuploidies is widely implemented, there is an increasing need for universal approaches for noninvasive prenatal screening for monogenic diseases. Here, we present a cost-effective, generic cell-free fetal DNA (cffDNA) haplotyping approach to scan the fetal genome for the presence of inherited monogenic diseases.
methodsFamilies participating in the preimplantation genetic testing for monogenic disorders (PGT-M) program were recruited for this study. Two hundred fifty thousand single-nucleotide polymorphisms (SNPs) captured from maternal plasma DNA along with genomic DNA from family members were massively parallel sequenced. Parental genotypes were phased via an available genotype from a close relative, and the fetal genome-wide haplotype and copy number were determined using cffDNA haplotyping analysis based on estimation and segmentation of fetal allele presence in the maternal plasma.
resultsIn all families tested, mutational profiles from cffDNA haplotyping are consistent with embryo biopsy profiles. Genome-wide fetal haplotypes are on average 97% concordant with the newborn haplotypes and embryo haplotypes.
conclusionWe demonstrate that genome-wide targeted capture and sequencing of polymorphic SNPs from maternal plasma cell-free DNA (cfDNA) allows haplotyping and copy-number profiling of the fetal genome during pregnancy. The method enables the accurate reconstruction of the fetal haplotypes and can be easily implemented in clinical practice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.