Detection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on prenatal ultrasound and a false negative non-invasive prenatal testing result in the first trimester
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Rapid diagnosis of maternal origin of de novo fetal Robertsonian translocation down syndrome of 46,XY,der(13;21)(q10;q10),+21 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with increased nuchal translucency and an abnormal result of first-trimester maternal serum screening
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