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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

The Journal of clinical investigation, 2015-10, Vol.125 (10), p.3757-3765 [Peer Reviewed Journal]

COPYRIGHT 2015 American Society for Clinical Investigation ;COPYRIGHT 2015 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Oct 2015 ;Copyright © 2015, American Society for Clinical Investigation 2015 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI79322 ;PMID: 26426075

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Title:
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations
Author: Zeevi, David A ; Altarescu, Gheona ; Weinberg-Shukron, Ariella ; Zahdeh, Fouad ; Dinur, Tama ; Chicco, Gaya ; Herskovitz, Yair ; Renbaum, Paul ; Elstein, Deborah ; Levy-Lahad, Ephrat ; Rolfs, Arndt ; Zimran, Ari
Subjects: Alleles ; Alzheimer's disease ; Biomedical research ; Clinical Medicine ; Consensus Sequence ; Cost control ; Deoxyribonucleic acid ; Diagnosis ; DNA ; DNA - blood ; DNA - genetics ; DNA Mutational Analysis ; Early Diagnosis ; Female ; Fetal Diseases - diagnosis ; Fetal Diseases - genetics ; Fetomaternal Transfusion ; Founder Effect ; Gaucher Disease - diagnosis ; Gaucher Disease - embryology ; Gaucher Disease - genetics ; Genes, Recessive ; Genetic disorders ; Genetic screening ; Glucosylceramidase - genetics ; Haplotypes ; Health aspects ; Humans ; Jews - genetics ; Methods ; Mutation ; Mutation (Biology) ; Pedigree ; Polymorphism, Single Nucleotide ; Population ; Pregnancy ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Sensitivity and Specificity ; Sequence Analysis, DNA ; Time Factors
Is Part Of: The Journal of clinical investigation, 2015-10, Vol.125 (10), p.3757-3765
Description: Noninvasive 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. Pregnant 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. Ten 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. The 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. SZMC, Protalix Biotherapeutics Inc., and Centogene AG.
Publisher: United States: American Society for Clinical Investigation
Language: English
Identifier: ISSN: 0021-9738
EISSN: 1558-8238
DOI: 10.1172/JCI79322
PMID: 26426075
Source: GFMER Free Medical Journals
MEDLINE
PubMed Central
Alma/SFX Local Collection
ProQuest Central

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Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

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