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Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR

Clinical chemistry (Baltimore, Md.), 2018-02, Vol.64 (2), p.336-345 [Peer Reviewed Journal]

2017 American Association for Clinical Chemistry. ;COPYRIGHT 2018 American Association for Clinical Chemistry, Inc. ;Copyright American Association for Clinical Chemistry Feb 2018 ;ISSN: 0009-9147 ;EISSN: 1530-8561 ;DOI: 10.1373/clinchem.2017.278101 ;PMID: 29097507

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Title:
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR
Author: Camunas-Soler, Joan ; Lee, Hojae ; Hudgins, Louanne ; Hintz, Susan R ; Blumenfeld, Yair J ; El-Sayed, Yasser Y ; Quake, Stephen R
Subjects: Adult ; Alleles ; Amniocentesis ; Anxiety ; Assaying ; Blood ; Cell-Free Nucleic Acids - blood ; Clinical Protocols ; Complications ; Congenital diseases ; Cystic fibrosis ; Deoxyribonucleic acid ; Diagnosis ; Disease control ; Disease susceptibility ; Disorders ; DNA ; Ethylenediaminetetraacetic acid ; Female ; Fetus - metabolism ; Fetuses ; Genes ; Genes, Recessive ; Genetic aspects ; Genetic Diseases, Inborn - blood ; Genetic Diseases, Inborn - diagnosis ; Genetic Diseases, Inborn - genetics ; Genetic Diseases, X-Linked - blood ; Genetic Diseases, X-Linked - diagnosis ; Genetic Diseases, X-Linked - genetics ; Genomics ; Hearing loss ; Hemophilia ; Heterozygote ; Humans ; Medical diagnosis ; Metabolic disorders ; Methods ; Mevalonate kinase ; Mevalonic acid ; Mutation ; Neonates ; Ornithine ; Parents ; Plasma ; Polymerase chain reaction ; Polymerase Chain Reaction - methods ; Polymorphism, Single Nucleotide ; Pregnancy ; Pregnancy complications ; Pregnant women ; Prenatal development ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Reproducibility of Results ; Risk ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Thalassemia ; Villus
Is Part Of: Clinical chemistry (Baltimore, Md.), 2018-02, Vol.64 (2), p.336-345
Description: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. We developed a protocol for noninvasive prenatal diagnosis of inherited single-gene disorders using droplet digital PCR from circulating cell-free DNA (cfDNA) in maternal plasma. First, the amount of cfDNA and fetal fraction is determined using a panel of TaqMan assays targeting high-variability single-nucleotide polymorphisms. Second, the ratio of healthy and diseased alleles in maternal plasma is quantified using TaqMan assays targeting the mutations carried by the parents. Two validation approaches of the mutation assay are presented. We collected blood samples from 9 pregnancies at risk for different single-gene disorders, including common conditions and rare metabolic disorders. We measured cases at risk of hemophilia, ornithine transcarbamylase deficiency, cystic fibrosis, β-thalassemia, mevalonate kinase deficiency, acetylcholine receptor deficiency, and DFNB1 nonsyndromic hearing loss. We correctly differentiated affected and unaffected pregnancies (2 affected, 7 unaffected), confirmed by neonatal testing. We successfully measured an affected pregnancy as early as week 11 and with a fetal fraction as low as 3.7% (0.3). Our method detects single-nucleotide mutations of autosomal recessive diseases as early as the first trimester of pregnancy. This is of importance for metabolic disorders in which early diagnosis can affect management of the disease and reduce complications and anxiety related to invasive testing.
Publisher: England: American Association for Clinical Chemistry, Inc
Language: English
Identifier: ISSN: 0009-9147
EISSN: 1530-8561
DOI: 10.1373/clinchem.2017.278101
PMID: 29097507
Source: MEDLINE
ProQuest Central

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Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR

2017 American Association for Clinical Chemistry. ;COPYRIGHT 2018 American Association for Clinical Chemistry, Inc. ;Copyright American Association for Clinical Chemistry Feb 2018 ;ISSN: 0009-9147 ;EISSN: 1530-8561 ;DOI: 10.1373/clinchem.2017.278101 ;PMID: 29097507

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