Article

Non-Invasive Prenatal Detecting of Achondroplasia In Earlier Stage of Pregnancy By Droplet-Digital PCR

2021-12-30

Abstract excerpt

<h4>Background: </h4> Achondroplasia (ACH) is generally detected by abnormal prenatal ultrasound findings in the late stage of pregnancy and then confirmed by molecular genetic testing of fetal genomic DNA obtained invasively. Most ACH cases appear to be de novo mutations with FGFR3 gene, so it is a challenge to screen ACH fetus out in the early stage of pregnancy. <h4>Objective: </h4> The aim of this study was to...

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Literature Corpus work: 5d5ce172-cea6-5820-8fa1-7c4912f751de
DOI: 10.21203/rs.3.rs-1209282/v1

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