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Articles » Aneuploidy » Trisomy 18
 2002-07-08-16 Trisomy 18 © Martinez

Trisomy 18

Raul Martinez, MD

Unidad Regiomontana de Diagnostico, Monterrey, Nuevo Leon, Mexico

A 30- year- old patient whose first pregnancy was normal, was referred by her gynecologist because he noticed anomalies of the fetal face, abdomen and because the fetus was small for gestational age.  The examination demonstrated: 


There is also a large atrioventricular septal defect visible both in black and white and color.

An omphalocele (this is a short video)


Clenched hands and 2-vessels cord

The baby was born in January 2002 and was still alive in May 2002, although she has been at the hospital all the time, several times in the intensive care unit for pneumonia. The diagnosis of Trisomy 18 was confirmed. The omphalocele was surgically repaired, but the clinicians decided not to do any cardiac surgery.

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