An Interesting Case
-
A biased source, but interesting...
-
An infant with trisomy 18 is more than "disabled." Few survive past 1 year of age.
About 95% of pregnancies that are affected do not result in a live birth. Major causes of death include apnea and heart abnormalities. It is impossible to predict an exact prognosis during pregnancy or the neonatal period. Half of the live infants do not survive beyond the first week of life. The median lifespan is five to 15 days. About 8–12% of infants survive longer than 1 year. One percent of children live to age 10. However, these estimates may be pessimistic; a retrospective Canadian study of 254 children with trisomy 18 demonstrated ten-year survival of 9.8%, and another found that 68.6% of children with surgical intervention survived infancy.
-
If you know you carry the gene, shouldn't you test your partner and take it into consideration before getting pregnant?
-
If you know you carry the gene, shouldn't you test your partner and take it into consideration before getting pregnant?
@Jolly said in An Interesting Case:
If you know you carry the gene,
https://medlineplus.gov/genetics/condition/trisomy-18/#inheritance
Most cases of trisomy 18 are not inherited, but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body's cells.
-
Also, the article cites an NYT analysis:
Earleir this year, a new analysis by the New York Times has found that some of the most common prenatal screening tests are not as reliable as parents often are led to believe and many healthy unborn babies may be being aborted as a result of false positives.
Examining five non-invasive prenatal tests, which involve drawing blood in the first trimester, the Times found an average false positive rate of 85 percent.
To conduct its research, the newspaper examined multiple studies and interviewed researchers about five of the most common microdeletion (chromosomal disorder) tests performed on pregnant mothers: tests for DiGeorge syndrome, 1p36 deletion, Cri-du-chat syndrome, Wolf-Hirschhorn syndrome, Prader-Willi and Angelman syndromes.
Those false positives could include Cox’s baby.
"Could"...but they don't. The fetus has trisomy 18 - "Edwards Syndrome."
The NYT article, which they quote (!) says:
the screenings for Down syndrome (“trisomy 21”) and Edwards syndrome (“trisomy 18”) work well, according to experts.
