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Genetics/Passing on Trisomy 13/Patau's Syndrom


My husband and I are expecting our first child in December. We are very excited, but I have always been worried about some family history repeating itself. My older brother was born with Patau's in 1986. My parents were encouraged to abort, and when they didn't, were told to plan a funeral. My brother died five months before his *10th* birthday from cardiac arrest.

I am concerned about this happening in my own children, and wonder whether I need to get any of the prenatal testing done (if its worth it). It is the only instance of a genetic disorder in my family that I know of, but I wonder how likely it is that I could pass it on--if at all.

Hi Meghan,

l understand your concern. So here are the facts:
Patau's syndrome is NOT inheritable.
Patau's syndrome is predominantly caused by a mistake in the way chromosomes are distributed to the eggs or sperms when they are in the parent's body (ovary or testis). This mistake is a chance event probably caused by some agent in the environment or life-style habits like smoking or alcohol and anything that can affect these special cells, including age.
The other and rare cause is, one of the parent having a "balanced" mutation with no loss or gain of the genetic material. The parent would be normal, but in their sperm or egg, the balanced mutation can create an imbalance, leading to abnormal sperm or egg and a defective embryo.

The latter case does not appear to be true in your case, as these people tend to have more abortions or miscarriage. Your mother had only one such event.
My prediction is that, you are not at risk more than the general population. Given that general population does carry a very very small risk, you would fall in the same category- that is not at an increased risk.

If you age is above 30, you might want to do a prenatal test.

Best of luck,



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Thanemozhi Natarajan


Answers in Genetics, genomics, cytogenetics of syndromes, congenital anomalies, cancer, clinical genomics and interpretation of omics data.


More than 10 years. Doctoral research thesis on Congenital anomalies and cytogenetics, Recurrent reproductive failure and chromosomal abnormalities. Postdoctoral experience in Breast cancer research. Current: Clinical Genomics and Pharmacogenomics.


Cancer Cell International, Cancer Epidemiology Biomarkers and Prevention, Breast cancer research and treatment, Indian Journal of Pediatrics, BMC Proceedings, Pharmacogenetics and Genomics, Human Molecular Genetics, Frontiers in Genetics, Cancer Biomarkers.

PhD Biomedical Genetics

Awards and Honors
University Grants Commission Award for pursuing PhD level research (India); Travel awards to attend conferences.

Past/Present Clients
Post doctoral experience Cancer research, molecular epidemiology Current: Clininical Genomics and Pharmacogenomics

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