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A novel method for noninvasive diagnosis of monogenic diseases from circulating fetal cells

16 Jul 2020

Abstract excerpt

OBJECTIVE: To establish a method for noninvasive fetal cell isolation from maternal blood and prenatal testing of monogenic diseases by a combination of direct sequencing and targeted NGS-based SNP haplotyping from single fetal cells. METHOD: Peripheral blood of pregnant women in two families (congenital deafness and ichthyosis) was collected. After density-based separation and immunostaining with multiple...

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Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 32673403
DOI: 10.1002/pd.5796

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