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Article

Targeted sequencing of maternal plasma for haplotype‐based non‐invasive prenatal testing of spinal muscular atrophy

22 Apr 2016

Abstract excerpt

Five pregnant women with a child affected by spinal muscular atrophy (SMA) were recruited between November 2014 and March 2015. Deletion of exons 7 and/or 8 in the SMN1 gene were identified by multiplex ligation-dependent probe amplification (MLPA), the current standard diagnostic test for SMA. Parental and fetal haplotypes of the SMN1 gene were determined in each family from haplotype-based non-invasive testing...

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PMID: 27102838
DOI: 10.1002/uog.15947

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