Part 6: Trisomy 13

So, at our ages (I am 40, Jeff is 41), what were our chances of having a baby with Trisomy 13?  According to our genetic counselors:  2.5 – 3.0 %.  And the chances of having a baby in the future with Trisomy 13 since we’ve already had one is double the original risk:  5 – 6 %.

For weeks, I’ve been writing a future post in my head entitled “Fertility and Fear,” in which I plan to address how we view statistics like these in our own family planning decisions and how our views have (or haven’t) changed as a result of this experience.  If I ever get it written, it’s going to be epic, as our big kids would say.  😉

I was very interested to know how many other expectant mothers in the Wellspan network are also currently carrying babies with a known trisomy to term and what the termination rate is for such babies in our area.  I was rather surprised to learn that I am the ONLY mom carrying a baby with Trisomy 13 that they know of, and they typically see 3-5 T-13 babies per year.  (There are a few moms with babies suspected of having a trisomy who haven’t yet undergone testing.)  There is ONE other mom carrying a baby with T-18, and there are 4-5 carrying babies with T-21 (Down Syndrome).  So much for joining a “Trisomy 13 Support Group!”  The abortion rate for our area upon diagnosis with a trisomy is about 50%, due to this being ‘rather conservative’ community.  In urban areas, this number is approximately 75-80%.

Here are some charts, links, and article excerpts that have been helpful in our study of T-13:

maternal-age-graphbe10452b41083fd386f926a93e9757bb

T-13 2

“Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year…

Trisomy 13 occurs in about 1 in 16,000 newborns…

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.”

From:  http://ghr.nlm.nih.gov/condition/trisomy-13

 

 

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