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Optimal non‐invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell‐free fetal DNA analysis

30 Jan 2018

Abstract excerpt

OBJECTIVES: To assess the performance of non-invasive prenatal testing (NIPT) for achondroplasia using high-resolution melting (HRM) analysis, and to propose an optimal diagnostic strategy combining ultrasound examination and cell-free fetal DNA (cffDNA) analysis. METHODS: In this prospective multicenter study, cffDNA was extracted from blood of pregnant women at risk for fetal achondroplasia (owing to paternal...

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PMID: 29380944
DOI: 10.1002/uog.19018

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