Trisomy 13, also known as
Patau Syndrome, is caused by a third copy of the thirteenth gene. It was first described in 1657, but four hundred fifty years of medical knowledge have not improved the outlook for children born with this syndrome. Most babies who are
conceived with trisomy 13 die early in
gestation. Of those who live to be born, about 44% die within the first month and 69% die by six months. The few who live past their first year have feeding problems, seizures, kidney problems, developmental delays, and spinal problems.
Problems present at birth may include some of the following:
Our farthest advances have been in early detection. Trisomy 13 is often detectable on ultrasound by 10 weeks. As early as 12 weeks, it can be seen in
chorionic villus sampling.
Amniocentesis, usually performed after
16 weeks gestation, can give a definite answer if any question still remains.
Often trisomy 13 is associated with older mothers. Even so, the risk of having another baby with trisomy 13 is usually very low -- unless the trisomy 13 is a translocation. A
translocation is not associated with mom's age, but is a
hereditary chromosome problem. The risk of recurrence in some types of
translocations can be quite high. The
inheritance of trisomy 13 is very complex. By testing the blood of both parents, a
geneticist can give parents the best available information.
sources
http://www.cpdx.com/cpdx/trisom13.htm
http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm
http://www.drgreene.com/21_614.html