Posted by: Chris Maloney | November 12, 2011

Trisomy 13, Patau Syndrome Mother Accused of Abuse.

A 37 2/7 week gestational age male infant with...

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In an extremely disturbing report, a mother who’s Trisomy 13 adolescent child had died is being accused of abusing another boy.   I will not dwell on that or comment on the case, but I want to take a moment to discuss the effects of Trisomy 13.

I have the honor of working with an extremely rare triple x, trisomy 21 child.  This child is rare because children with these conditions are routinely aborted because the defects are seen as incompatible with life.  In the case of trisomy 13, the majority of children are also aborted after amnio testing because they are also considered incompatible with life.

When you talk with the mothers of these children, their commitment and dedication know no bounds.  It is disturbing that within modern medicine parents are often counseled that something is incompatible with life when the reality is that it is only possibly incompatible with life.  Here is a recent study on the averages for Trisomy 13.

Here is a blog with a discussion of Patau Syndrome (Trisomy 13).

Am J Med Genet A. 2011 Nov;155(11):2626-33. doi: 10.1002/ajmg.a.34284. Epub  2011 Oct 11.

Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis.


Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.


Trisomy 13, trisomy 18, and triploidy belong to the chromosomal abnormalities which are compatible with life, but which are also associated with a high rate of spontaneous abortion, intrauterine death, and a short life span. This study was conducted to analyze natural outcome after prenatal diagnosis of these disorders. Between January 1, 1999 and December 31, 2009, we investigated all amniocenteses and chorionic villus biopsies carried out at our department. All cases with fetal diagnosis of triploidy, trisomy 13, and 18 were analyzed, with a focus on cases with natural outcome. Overall, 83 (78%) cases of pregnancy termination and 24 (22%) patients with natural outcome (NO) were identified. The NO group included 15 cases of trisomy 18, six cases of triploidy, and three cases of trisomy 13. No case of triploidy was born alive. The live birth rate was 13% for trisomy 18 and 33% for trisomy 13. The three live-born infants with trisomy 13 and 18 died early after a maximum of 87 hr postpartum. Our data are consistent with the literature concerning outcome of triploidy, with none or only a few live births. Analyzes of trisomy 13 and 18 indicate a very short postnatal life span. Different study designs and diverse treatment strategies greatly affect the fetal and neonatal outcome of fetuses with triploidy, trisomy 13, and 18. More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling. © 2011 Wiley Periodicals, Inc.

Copyright © 2011 Wiley Periodicals, Inc.

PMID: 21990236

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