Clinical service delivery of non-invasive prenatal diagnosis (NIPD) by relative haplotype dosage (RHDO) for single gene disorders

We have developed and implemented into routine clinical practice a relative haplotype dosage (RHDO) based method for non-invasive prenatal diagnosis (NIPD) of multiple single gene disorders: spinal muscular atrophy (SMA), Duchenne and Becker muscular dystrophies (DMD/BMD) and cystic fibrosis (CF). This review describes our experience of the first 152 pregnancies to have NIPD by RHDO as part of a routine clinical service. We have demonstrated that it is possible to provide a result within a clinically useful timeframe (mean 11 calendar days) with a very low failure rate (4%), none being due to a technical failure.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research