Prenatal diagnosis of Down syndrome

Prenatal Diagnosis of Down Syndrome

Chromosomal aberration is a phenomenon occurring relatively commonly in the development process. Chromosomal aberration is known to have various causes, and its frequency has been reported to vary particularly according to maternal age. Though different among reports, the frequency was around 0.6-0.8% in analysis with all childbirths1 and around 2-3% in case childbirths were reclassified based ...

Non Invasive Prenatal Diagnosis of Down Syndrome

Prenatal diagnosis of hydrometrocolpos in a Down syndrome fetus.

We report the prenatal sonographic diagnosis of hydrometrocolpos caused by an imperforate hymen in a Down syndrome fetus, with spontaneous evacuation on the third day of life. In this case, sonographic evaluation in the 37th week revealed a large retrovesical, sharply marginated, heterogeneous, unilocular cystic structure within the fetal abdomen extending to the left side of the umbilicus.

Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy.

We present a case of a 33-year-old pregnant woman who had a transvaginal ultrasound performed at week 9 of gestation. A dichorionic diamniotic twin pregnancy with symmetrically developing fetuses, was confirmed. Chromosomal defect markers (NT NB, DV TV) were analyzed in the first genetic test, performed according to the Fetal Medicine Foundation (FMF) criteria, and the double marker test was pe...

Segmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome

Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...