The genetic tests in pregnancy that any pregnant woman should know
A positive pregnancy test triggers a wave of emotions but also worries about any future mother. One of the most important topics in the first trimester is genetic analysis – which we have to do, where to go, what results to expect. Experts insist on the importance of interdisciplinary gynecologist-geneticist consultation and say that more and more pregnancy problems have genetic causes.
Non-invasive prenatal tests
These are DNA tests in maternal blood for the screening of the most common fetal aneuploids, ie number changes in chromosomes 21, 18, 13, X or Y. Each of these pairs corresponds to a disease, for example, Down's syndrome is due to the presence of a crosome in addition to Pair 21. "The Harmony test, which we provide to the Genetic Center patients, is made from a maternal blood sample containing fetal DNA and accounts for more than 99% of the fetal aneuploidy of chromosomes 21, 18, 13, X or Y, indicating the risk of Down, Turner, Edwards syndrome, "explains Flavia Zant, specialist at the Genetics Center. This test, which can be done from the 9th week of pregnancy, can replace the double test, it is very simple – like any blood test, and can also indicate the child's sex before it is detected by ultrasound.
Genetic test for cystic fibrosis
It is one of the two pregnancy tests for pregnant women, in the opinion of Mrs. Mariela Militaru. "There are, in my opinion, two analyzes that should be implemented in the standard package for any pregnant woman. First of all, it is about testing the DF508 mutation, the most common mutation encountered in cystic fibrosis. Cystic fibrosis, with a incidence of 1/3000 in most populations of Caucasian origin, is among the most common autosomal-recessive genetic diseases. The natural evolution of the disease, in the presence of this mutation, is serious, with early impairment especially of respiratory function, the most common cause of death of these patients. "
The genetic test for deafness non-syndromic genetic
"The second analysis I recommend to any pregnant woman is detecting the 35delG mutation, the most common mutation in non-syndromic genetic dehydration, which has an incidence of about 1/1000. These two mutations should be tested when the pregnant woman performs the first trimester test, ie the double test, "explains Dr. Mariela Militaru.
Fetal cariotype of amniotic fluid
This is an analysis about which we are discussing whether the future mother is 35 or older. "In addition to the two mutations described above, we must discuss fetal keratitis (analysis of the 46 chromosomes) from amniotic fluid as it increases the risk of developing chromosomal diseases in children with increasing maternal age," adds Dr. Mariela Militaru reference in genetic medicine in Romania.
Genetic tests for thrombophilia
Hematologists point out that an increasing number of pregnant women, apparently without symptoms, are affected by coagulation disorders and have certain genetic mutations. "In fact, a repeat number of missed tasks should immediately send us to a genetics laboratory where we can perform the thrombophilia test package. Also, a family history of infarction at younger ages or a fetus that does not grow at the rate at which it would be normal is alarming, "says Ana-Maria Neagu, a hematology specialist at the Genetic Center.