Trisomy 13

Diagnosis and Testing

What are the common findings on ultrasound for Trisomy 13?

It is not uncommon for babies with trisomy 13 to have abnormal ultrasound findings. The discovery could vary from inadequate growth (intrauterine growth restriction) to a heart defect. Other findings could be hydrocephalus (build up of fluid in the brain) or oligohydramnios (too little amniotic fluid surrounding the baby). Some babies with trisomy 13 have an abdominal defect which leads to some of the baby's intestines being outside of the body. This is called an omphalocele, and is easily seen on a prenatal ultrasound.

Baty, B.J., Blackburn, B.L., and Carey, J.C. Natural History of Trisomy 18 and Trisomy 13: I. Growth, Physical Assessment, Medical Histories, Survival, and Recurrence Risk. American Journal of Medical Genetics. 1994; 49: 175-188

Radiol Clin North Am. 2014 Nov;52(6):1191-9. doi: 10.1016/j.rcl.2014.07.004. Epub 2014 Aug 24.Ultrasound evaluation of the first trimester.Doubilet PM1.

Clin Obstet Gynecol. 2012 Mar;55(1):226-48. doi: 10.1097/GRF.0b013e3182446c11.The Sherlock Holmes approach to diagnosing fetal syndromes by ultrasound.Benacerraf BB1

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