Prenatal diagnosis of Down Syndrome in a twin pregnancy: The role of second trimester ultrasonography

Amaç

Multiple gestations are at increased risk for congenital abnormalities. The role of second trimester maternal serum biochemical screening for chromosomal abnormalities in multiple gestations is limited. For these reasons, prenatal identification of fetuses with structural and/or chromosomal abnormalities in mutifetal pregnancies is a diagnostic challenge. The aim of this case report is to emphasize the role of second trimester targeted ultrasonography in the prenatal diagnosis of fetal abnormalities in multiple gestations.

Olgu

Detailed fetal ultrasonographic examination in a 27-year-old woman with twin pregnancy at 16 weeks' gestation revealed thickened nuchal fold (8 mm) in one of the fetuses. The other was normal. Amniocentesis was performed with two separate needle insertions into the two gestational sacs. The karyotype of the fetus with thickened nuchal fold was 47, XY, +21 (Down syndrome) and that of the the other was normal. The parents were counselled regarding the possibility of selective termination because dichorionic placentation and opted to terminate the affected twin. Selective termination of the fetus with Down syndrome was performed by intracardiac potassium chloride injection at 19 weeks of gestation. The remainder of pregnancy was uneventful and the healty baby was delivered by cesarean section at 39 weeks of gestation.

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