Медицинская литература. Новинки

 

 

 

 

 

 

Пренатальная диагностика синдрома гетеротаксии с полиспленией в сочетании с агенезией венозного протока и гипоплазией тимуса

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Описан случай пренатальной диагностики синдрома гетеротаксии с полиспленией в сочетании с агенезией венозного протока, гипоплазией тимуса, микромелией, шейной гигромой, единственной артерией пуповины на сроке 22 нед беременности. С целью верификации пороков развития применялось трехмерное ультразвуковое сканирование, для исключения хромосомной аномалии проведено кариотипирование плода (46,XY). Беременность прервана по желанию женщины.

Ключевые слова:
пренатальная ультразвуковая диагностика, синдром гетеротаксии (situs ambiguous), синдром полисплении, синдром асплении, врожденные пороки сердца.

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The Prenatal Diagnostics of Heterotaxy Syndrome with Polysplenia in Combination with Venous Duct Agenesia and Thymus Hypoplasia

The case of heterotaxy syndrome with polysplenia in combination with venous duct agenesia, thymus hypoplasia, micromelia, and neck hygroma prenatal diagnostics at the gestational age of 22 weeks is described. The diagnosis has been done by means of threedimensional echography. For chromosomal abnormality exception fetal karyotyping was performed (46,XY). Pregnancy was interrupted at will of the woman.

Keywords:
prenatal ultrasound diagnosis, heterotaxy syndrome, polysplenia syndrome, asplenia syndrome, congenital heart defects.