Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

Parks, Michael J.; Court, Samantha; Cleary, Siobhán; Clokie, Samuel; Hewitt, Julie; Williams, Denise; Cole, Trevor; Macdonald, Fiona; Griffiths, Mike; Allen, Stephanie

doi:10.1002/pd.4781

Cited by 77 publications

(73 citation statements)

References 40 publications

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“…In this study, all 17 fetuses were accurately diagnosed as normal, carrier or affected using haplotype-based NIPD. This study and previous works of NIPD for DMD showed a high degree of accuracy compared with the invasive diagnosis results, as shown in Table 4 [11][12][13][14]. We also reviewed NIPD for other monogenic disorders [15].…”

Section: Discussionsupporting

confidence: 56%

“…Currently, the position of the recombination event was confirmed by comparing the haplotypes of the proband and the CVS, or by bi-direcional (i.e. 5'to 3'and 3'to 5') evaluation of recombination sites in RHDO analysis [16]. We precisely assessed the position of the combination site to support a correct diagnosis, demonstrating the robustness of the haplotype-based approach.…”

Section: Discussionmentioning

confidence: 93%

“…For instance, coverage of SNPs across various autosomes should be， increased to further improve the accuracy. Establishing referral laboratories for DMD with increased multiplexing capacity of multi-personnel in each sequencing run will help to reduce the cost and shorten the turn-around-time [16].…”

Section: Discussionmentioning

confidence: 99%

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Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

Chen

et al. 2019

Preprint

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Objective To explore the accuracy and feasibility of noninvasive prenatal diagnosis (NIPD) for Duchenne Muscular Dystrophy (DMD) based on the haplotype approach. MethodsWe recruited singleton pregnancies at-risk of DMD at 12-25 weeks of gestation from 17 families who all had a proband children affected by DMD. We have identified the pathogenic mutations in probands and their mothers by multiplex ligation-dependent probe amplification (MLPA). To construct parental haplotypes, we performed captured sequencing on genomic DNA from parents and probands. The integration analysis of parental haplotypes and targeted sequencing results of maternal plasma DNA were used to infer the fetal haplotype and genotypes in DMD gene. Fetal DMD genotypes were further confirmed by invasive prenatal diagnosis. ResultsWe have successfully performed the haplotype-based NIPD in all recruited families. Ten fetuses were identified as normal, including four female and six male fetuses. Four female fetuses were carriers and the other three male fetuses were affected by DMD with exons 49-52 deletion, exons 8-37 deletion and c.628G>T mutation, respectively. The results of NIPD were consistent with those of invasive diagnosis. ConclusionHaplotype-based NIPD for DMD by targeted sequencing is promising and has potential for clinical application.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 93%

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Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

Chen

et al. 2019

Preprint

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“…Non-invasive prenatal testing for DMD is likely to become clinically available, allowing earlier identification of affected fetuses in women without a family history of DMD. 126 …”

Section: Discussionmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Birnkrant

Bushby

Bann

et al. 2018

The Lancet Neurology

927

1,080

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Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

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“…Circulating nucleic acids can be analyzed at higher genomic coverage but this is to likely remain prohibitively expensive, does not overcome the problem of maternal cell‐free DNA background contamination, and requires complicated bioinformatics . For example, cffDNA from a pregnant woman could be sequenced to a depth of 195 × which provided a high positive predictive value and could detect fetal de novo mutations (including BRAF which encodes a proto‐oncogene).…”

Section: Introductionmentioning

confidence: 99%

Isolation of Circulating Fetal Trophoblasts Using Inertial Microfluidics for Noninvasive Prenatal Testing

Winter

Hardy

Rezaei

et al. 2018

Adv Materials Technologies

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While noninvasive prenatal testing based on cell‐free fetal DNA has recently revolutionized the field of aneuploidy screening in pregnancy, it remains limited to aneuploidy and microdeletion screening, and is unable to reliably detect single gene disorders. A number of recent studies have demonstrated the potential of circulating trophoblastic cells in providing cell‐based noninvasive diagnosis with sequencing or array‐based assays. However, considering the extreme rarity of these cells in blood, efficient, high‐throughput, and clinically applicable enrichment technologies are yet to be developed. This study demonstrates for the first time the utility of inertial microfluidics for efficient isolation of trophoblastic cells from maternal peripheral blood. Under optimal operating conditions, high‐recovery yields (79%) are obtained using a trophoblastic cell‐line, which is subsequently confirmed with analysis of maternal blood. Feasibility of obtaining a diagnosis from cells isolated from a maternal sample is demonstrated in a case of confirmed fetal trisomy 21 in which six fetal cells are found in a 7 mL blood sample using fluorescence in situ hybridization. Finally, it is demonstrated that trophoblastic cells isolated using inertial microfluidics could be picked and subjected to a clinically validated sequencing assay, paving the way for further validation of this technology and larger clinical studies.

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Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

Cited by 77 publications

References 40 publications

Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

Isolation of Circulating Fetal Trophoblasts Using Inertial Microfluidics for Noninvasive Prenatal Testing

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