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Article

Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.

The Journal of molecular diagnostics : JMD - 1 Sept 2020

Young Elizabeth, Bowns Benjamin, Gerrish Amy, Parks Michael, Court Samantha, Clokie Samuel, Mashayamombe-Wolfgarten Chipo, Hewitt Julie, Williams Denise, Cole Trevor, Allen Stephanie

Abstract excerpt

A relative haplotype dosage (RHDO)-based method was developed and implemented into routine clinical practice for noninvasive prenatal diagnosis (NIPD) of multiple single-gene disorders: spinal muscular atrophy, Duchenne and Becker muscular dystrophies, and cystic fibrosis. This article describes the experiences of the first 152 pregnancies to have NIPD by RHDO as part of a routine clinical service. Provision of...

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Source

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Identifiers

PMID: 32553884
DOI: 10.1016/j.jmoldx.2020.06.001
PMCID: PMC7471768

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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