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Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches.

Prenatal diagnosis - 1 Apr 2023

Shaw Joe, Scotchman Elizabeth, Paternoster Ben, Ramos Maureen, Nesbitt Sarah, Sheppard Sophie, Snowsill Tristan, Chitty Lyn S, Chandler Natalie

Abstract excerpt

OBJECTIVES: To develop a flexible droplet digital PCR (ddPCR) workflow to perform non-invasive prenatal diagnosis via relative mutation dosage (RMD) for maternal pathogenic variants with a range of inheritance patterns, and to compare the accuracy of multiple analytical approaches. METHODS: Cell free DNA (cfDNA) was tested from 124 archived maternal plasma samples: 88 cases for sickle cell disease and 36 for rare...

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PMID: 36760169
DOI: 10.1002/pd.6333

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