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Re: Trisomy 13

Posted By hfhs.md.rcs on July 20, 1998 at 12:22:05:

In Reply to: Trisomy 13 posted by Debbie on July 09, 1998 at 01:04:44:






I am 42 and was informed that my baby had died at 17 weeks, 5 days.  I was
induced with labor and an amniocentesis was done.  I just got a call from
the doctor and was told that my son had Trisomy 13.  I'm very confused on
this, trying to find out what I can.  All I basically know is that it is
an extra chromosome 13. What exactly are the characteristics of this disorder
and what causes it? I was fortunate that I was able to spend a few hours with
my son and have been trying to deal with the pain of losing our angel.  I can't
help but feel that somehow, someway, this is my fault.
Dear Stef:
Trisomy 13, also named Pautau's Syndrome, occurs in approximately 1/5000 births. It is a member of the trisomy group of abnormalities: there is a third number 13 chromosome. Trisomy 21 (Down Syndrome; an old name is Mongalism) is the most common example of this genetic disorder. Trisomy 18 is the third of the common examples.
Trisomy results from the unequal separation of chromosomes during cell divison: non-disjunction is the technical term. Humans have 22 pairs of chromsomes (44 autosomes) and 2 sex chromsomes (XX = female and XY = males). As a cell prepares to divide (our body grows by cells dividing and doubling their number), each of the 46 chromosomes creates a duplicate image of itself and as the single cell grows to become two cells, 46 chromsomes, either the original or the copy, go into each of the two new cells. If an original and a duplicate fail to separate, then one cell gets an extra chromsome and the other cells is short one chromsome. Sometimes these additons/deletions are instantly fatal and the cells stop growing. Sometimes growth continues, and the mismatch of chromsomes is passed on the next cell and so forth.
Trisomy 13 babies frequently are stillborn, less often reach full term and die in the newborn time. Few of these children survive into childhood/teens. All are associated with developmental abnormalities: severe mental retardation; growth retardation; misdevelopment of the brain and spinal cord; cleft lip and palate; hand and foot deformities; cardiac anomalies. Almost all body systems can be affected.
Trisomy is more common with increased age of mother. The increase is gradual between teens and age 35 years. The likelihood for an anomaly increases rapidly each year after age 35 years. It is this statitical information that prompts us to recommend prenatal testing for every woman who is at or beyond her 35th birthday when she became pregnant.
There is nothing that you did, ate, drank, thought, or conversely did not do that caused or could have prevented this happening. You received care at an institution that understood your loss and has help you begin to grieve by providing you time with your son. The hospital may have grief resources. Your church may be a second resource. A national organization named AMEND (After Mothers Experience Neonatal Death) has many local chapters.
The likelihood of another pregnancy with trisomy is predicted by age: at age 42, 1/65 women will deliver a baby with the most common trisomy, Down Syndrome. A full understanding of the genetics associated with pregnancy in your age group is best learned by discussion with a geneticist as part of "preconception counselling". This is offered by many medical centers: Henry Ford Hospital Department of Genetics, (313) 876-3188
Keywords: Trisomy 13
This material is provided for information purposes only and is not a medical consultation. If you have specific questions, please contact your physician.
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