Children have an inherited disease even though their parents are healthy. How do the experts explain this? Is there any way to help a newborn avoid this sad thing at birth?
Doan Thi Hanh, a mother who has done the prenatal screening, said. She used to be very worried because the test results showed that she was born with a hemolytic gene. This means that her child is born with the possibility of a genetic disease and will have to stay in the hospital for a lifetime and depend on blood transfusion.
Pregnant cases like Hanh are not uncommon. Some single genetic disorders are not included in the prenatal screening program if there are no signs.
That is why there is still a certain proportion of babies born with serious genetic diseases even though their parents look very healthy on the outside.
Expert Vu Dinh Chat, IVF Center Hong Ngoc explains this as follows:
Each sperm cell or egg will have 23 chromosomes because it is divided from the sex cells of the body. This means that this sex cell divides 46 chromosomes to create egg and sperm cells. But this division can be faulty, so sometimes sperm cells and eggs carry chromosome counts of 22 or 24 instead of 23.
This abnormal egg or sperm cell, when combined with another normal cell, forms an abnormal embryo chromosome. Babies born from this embryo have an inherited condition. The process of this error is completely random. Especially for an older mother (> 35 years old), the possibility of a failure is more than that of a young woman of reproductive age.
This is the first explanation for the case that normal parents are still able to produce abnormal babies.
According to Dr. Dinh Thuy Linh, Deputy Director of the Center for Screening, Antenatal and Neonatal Diagnosis, Hanoi Obstetrics and Gynecology Hospital, many healthy cases carry mutated genes in the recessive state, do not manifest, call are healthy carriers of disease genes. When these people get married, it is possible to give birth to a baby with an inherited disease.
According to the reported data, about 100 genetic diseases have been reported in Vietnam. The proportion of people carrying disease genes in the country is about 10%. These people only examine and find out when the baby is born sick or a relative has a sick person.
In addition to pre-natal vaccination, during pregnancy to monitor the periodic development of the fetus, pregnant women should perform prenatal screening to determine the risk of birth defects.
Antenatal screening method includes screening and testing at specific weeks of pregnancy and gives highly accurate results about babies at risk of birth defects in any part. Commonly used techniques include: ultrasound, amniocentesis, Double test, Triple test, and NIPT test.
In addition, in necessary cases, it is possible to perform additional tests: total urine analysis test, total peripheral cytology test by laser, test for calcium and iron, ... Diagnostic techniques: Amniocentesis, vegetable thorns biopsy, ...
Dr. Linh recommends that couples take the initiative to do tests, prenatal screening, pre-marital health check to early screen and detect genetic diseases, from which doctors will have directions for consulting and timely treatment. time to ensure that the baby is born as healthy as possible.
See more:
The father faced the pain of losing his child due to a rare genetic disease called Niemann-Pick
Genetic diseases are common in infants
9 months of pregnancy, the fetus will inherit from the mother 7 this special personality
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