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2008-12-27-10 Case of the week #237 © Veropotvelyan

Case of the week #237

February 5, 2009 - February 19, 2009

Nickolay Petrovich Veropotvelyan, MD*; Tamo Raad, MD**; Andrii Kurkevych, MD**; Oleksandr Romanyuk, MD**.

*   Multiregional Medical Genetic and Prenatal Diagnostic Center, Kryvyj Rig, Ukraine;
**  Ukrainian Children’s Cardiac Center, Kyiv, Ukraine.

Case report

A 32-year-old (G2P1) woman, from a non-consanguineous couple and with a non-contributive history, presented to our department at 21 weeks of her pregnancy. Our ultrasound discovered increased nuchal fold thickness and brachycephaly of the fetus. Additionally a vessel abnormality was found which was falsely considered to be a double aortic arch. The findings led us to a suspicion of Down syndrome and karyotyping was done immediately, revealing a normal karyotype (46, XY). The neonate was born at term and its postnatal adaptation was normal. One month later the baby developed episodic choking and vomitus during feeding, and a CT scan of the baby was performed revealing the final diagnosis. What kind of anomaly it was?

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