ArticleThe Journal of clinical investigation2015
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
Article in The Journal of clinical investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 46 citations in OpenAlex.
- Non-Invasive Prenatal Diagnosis of Monogenic Disorders Through Bayesian- and Haplotype-Based Prediction of Fetal Genotype.Frontiers in genetics · 2022Article
- Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.Genome medicine · 2021Article
- Impact of Emerging Technologies in Prenatal Genetic Counseling.Cold Spring Harbor perspectives in medicine · 2020Review
- Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction.Nucleic acids research · 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
- A Cell-free DNA Barcode-Enabled Single-Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β-Thalassemia.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2019Article
- Pilot study of a novel multi-functional noninvasive prenatal test on fetus aneuploidy, copy number variation, and single-gene disorder screening.Molecular genetics & genomic medicine · 2019Article
- Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.Scientific reports · 2018Article
- Fetal gene therapy for neurodegenerative disease of infants.Nature medicine · 2018Article
- Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis.Scientific reports · 2018Article
- PLAC4 mRNA SNP in non-invasive prenatal testing of Down syndrome.International journal of clinical and experimental pathology · 2017Article
- Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNoninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population.
methodsPregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease-associated founder mutation-flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods.
resultsTen parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation-flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles.
conclusionsThe founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations.
fundingSZMC, Protalix Biotherapeutics Inc., and Centogene AG.
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