2023-12-09 17:34:06
In the debate that is currently shaking Texas about a mother who wants an abortion, the medical reason cited is that the fetus has Edwards syndrome or trisomy 18. But what does this chromosomal anomaly, described for the first time in 1960 by the doctor, consist of? British geneticist John H. Edwards?
First modification: 12/09/2023 – 16:34
2 min
By Ivonne Sanchez
It is known by two names: Edwards syndrome, or trisomy 18, being a type of “human aneuplody”, that is, there is a change in the number of chromosomes, in this case, in pair 18, three copies appear in this chromosome instead of two. This occurs during cell division, giving rise to a total of 47 chromosomes, different from the 46 with which a healthy person is born.
It was originally described by the British geneticist John H. Edwards In 1960.
Edwards syndrome or trisomy 18 It is therefore a chromosomal abnormality that is characterized by the presence of an additional copy of genetic material from chromosome 18.
Given the high postnatal mortality rate of this genetic disease, there is still no effective treatment. Clinical work is limited to premature diagnosis in order to adequately monitor the pregnancy and to the psychological preparation of parents for eventual imminent perinatal death or mental retardation and physical disabilities in the few survivors.
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The diagnosis is made between weeks 12 and 20 of pregnancy using ultrasound techniques. In the presence of any malformation that raises suspicion of a chromosomal aberration, the diagnosis is confirmed by amniocentesis or other techniques.
Closed fists or trisomic hands are very characteristic of trisomy 18, with the fingers overlapping each other. More than a hundred defects associated with this genetic anomaly have been described, but some of them can be mentioned: small and abnormally shaped head, rounded soles of the feet, respiratory problems, eye malformations, short neck, cleft palate as well as problems cardiac and renal.
Women are more likely to suffer from this disease, although the mortality rate is higher among men. Since it is a random alteration, it is rarely repeated in the same family and does not pass from parents to children.
Trisomy 18 It is a rare chromosomal abnormality that affects approximately one in every 3,000 live births. Unlike Down Syndrome, trisomy 18 is usually fatal: most babies die before birth and those who are born usually live only a few days or weeks. However, a small number of babies, less than 10%, live at least a year and even longer.
Some families give their testimony about their son or daughter who was born with trisomy 18 in this video from the NHS (National Health Service) of the United Kingdom:
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