Vol 84, No 11 (2013)
ARTICLES
Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy
Józef Krawczyk, Dariusz Borowski, Piotr Węgrzyn, Mirosław Wielgoś, Krzysztof Drews
DOI: 10.17772/gp/1670
·
Ginekol Pol 2013;84(11).
Vol 84, No 11 (2013)
ARTICLES
Abstract
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 performed (PAPP-A protein and free beta-hCG concentrations in patient serum were determined). In the subsequent diagnostic procedures, the patient was offered and consented to amniopuncture after week 15 of gestation. The material obtained in the course of that invasive procedure allowed to identify a normal male karyotype – 46, XY in the first fetus (Fetus I). Cytogenetic analysis of the material from the second fetus (Fetus II) resulted in the diagnosis of an abnormal female karyotype – 47, XX, +21. Based on the analyzed clinical case, we present the difficulties of performing prenatal diagnosis in a dizygotic twin pregnancy. The results prove the applicability and efficacy of prenatal diagnostics tests based on the FMF criteria also in twin pregnancies.
Abstract
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 performed (PAPP-A protein and free beta-hCG concentrations in patient serum were determined). In the subsequent diagnostic procedures, the patient was offered and consented to amniopuncture after week 15 of gestation. The material obtained in the course of that invasive procedure allowed to identify a normal male karyotype – 46, XY in the first fetus (Fetus I). Cytogenetic analysis of the material from the second fetus (Fetus II) resulted in the diagnosis of an abnormal female karyotype – 47, XX, +21. Based on the analyzed clinical case, we present the difficulties of performing prenatal diagnosis in a dizygotic twin pregnancy. The results prove the applicability and efficacy of prenatal diagnostics tests based on the FMF criteria also in twin pregnancies.
Keywords
pregnancy, twin pregnancy, Down Syndrome, PAPP-A protein
Title
Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy
Journal
Ginekologia Polska
Issue
Vol 84, No 11 (2013)
Page views
780
Article views/downloads
786
DOI
10.17772/gp/1670
Bibliographic record
Ginekol Pol 2013;84(11).
Keywords
pregnancy
twin pregnancy
Down Syndrome
PAPP-A protein
Authors
Józef Krawczyk
Dariusz Borowski
Piotr Węgrzyn
Mirosław Wielgoś
Krzysztof Drews
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