GENERICO.ruWorldThe geneticist linked the age of the parents to the congenital malformations in the child

The geneticist linked the age of the parents to the congenital malformations in the child


MOSCOW, Dec 16 Increased risks of having a child with a chromosomal pathology like Down's syndrome exist in a woman after 35 years, and men, when conceiving after 45 years, can provoke dwarfism, although this does not mean at all that adults will necessarily give birth to children with impairments, the candidate of medical sciences told RIA Novosti. Associate Professor of the Department of Medical Genetics of the Federal State Budgetary Educational Institution of Higher Professional Education RMANPO of the Ministry of Health of Russia, medical director of Evogen LLC Elena Baranova. The second student scientific and educational school-conference on genetics and biotechnology is held on December 13-19 at the Sirius educational center. The conference program has been prepared for undergraduate and graduate students specializing in genetics, molecular biology, biotechnology and neurobiology. As the organizers said, leading experts in the field of genetics, biotechnology and neurobiology were involved in lecturing, conducting classes and master classes. Not only Down syndrome: what pathologies does screening for pregnant women reveal? Indeed, with the age of a woman, the risk of having a chromosomal abnormality of the fetus increases. At 35 years of age, this risk increases, but to say that any woman of age will certainly give birth to a child with a chromosomal abnormality is certainly not the case. Plus, these women are always under special control, they fall into the risk group, which is the focus of all attention, and Therefore, such pregnancies are conducted more carefully. And in principle, during pregnancy, this chromosomal pathology can already be suspected, “said Baranova. However, the risks of genetically determined diseases also increase with the age of a man. According to the candidate of medical sciences, in men this age crosses the bar of 45 years, after which there is a risk of “point changes” in the DNA sequence that can provoke the appearance of dwarfism. “Basically, this is a monogenic pathology, when not chromosomes are added or subtracted, but when there are “point changes” in the DNA sequence. And it is believed that with the age of a man the risk of just such point changes in DNA increases. Usually we talk about such a risk already about the age of over 45 years in men. For example, this is achondroplasia – dwarfism. disease, the risk of a de novo mutation (when the parents do not have this mutation, but the fetus has a no one can have healthy parents, Baranova explained. At the same time, the earliest stage at which any violations can be detected is testing a married couple for the “carriage” of some disease, added the associate professor of the Department of Medical Genetics. In addition, if a man and a woman carry a variant in the same gene, for example, responsible for the development of diseases such as cystic fibrosis and spinal muscular atrophy, there is a 25% chance that a sick child will be born. “Despite the fact that we have a well-known genome sequence, we do not know all about this sequence thoroughly. there is a fairly large number of diseases that a married couple may not have, but mutations will directly arise in the germ cells, for example, in the germ cell of the father or the germ cell of the mother. These are the so-called de novo diseases, that is, the parents do not have this mutation, but the child will have such a mutation. division of carriage “, – emphasized Baranova. The expert added that if a woman is already in the stage of pregnancy, the disease can still be detected. So, today a technology is used that allows the mother's blood to see if the fetus has a high risk of chromosomal pathologies, such as Down syndrome, Patau and others, concluded the candidate of medical sciences. What is important to know about each trimester of pregnancy: expert advice

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