The importance of genetic consultation in repeated spontaneous abortion

The importance of genetic consultation in repeated spontaneous abortion

The importance of genetic consultation in repeated spontaneous abortion

Genetic errors are the main cause of repeated pregnancy losses. These can occur both before conception, when the sperm or egg is abnormal, as well as in the early stages of pregnancy, when cell division begins.

Recent studies by the American Association of Gynecologists (ACOG) show that over 50% of repeated spontaneous abortions have genetic causes. Whether it is a causal relationship - chromosomal abnormalities, or a multifactorial predisposition - hereditary thrombophilia, the early identification of these causes may provide information about the genetic risk of the couple or the future child, but also about the treatment methods to be implemented. .

Repeated miscarriage it results in losing the pregnancy at least three times up to the age of 24 weeks of pregnancy, with children less than 500 grams.

Statistics have shown that repeated spontaneous abortions occur in 15-20% of diagnosed pregnancies. Of these, 85% occur even in the first 12 weeks of evolution. The risk of miscarriage increases as the age of the partners increases.

Thus, while women under 35 years old have a chance of about 15% to have an abortion, the risk increases to 20-35% for women between 35-45 years, reaching right up to 50% for women over 45 years.

"Recurrent pregnancy loss can have multiple causes, but most commonly involved in such cases is the genetic cause. We talk here about chromosomal abnormalities, either already present in one of the parents, or newly emerging, which are incompatible with the survival of the fetus," he says. dr. Viorica Radoi, Head of Works, Primary Medical Genetics Medical at Fertilia Medical Center.

Approximate 50-60% of first trimester miscarriages have genetic causes, being the most common trisomy, monosomy X and polyploidy. These are some of the main ways in which the natural selection process acts, and in such cases the repeated spontaneous abortion appears as a defense mechanism against birth of children with malformations. Through abortion, zygotes carrying severe chromosomal abnormalities are eliminated and most are expelled at very early stages.

It is important to remember that the genetic abnormalities that lead to spontaneous abortion occur through disturbances in the genetic baggage of the zygote, being rarely inherited from the parent.

Genetic consultation in repeated spontaneous abortion - why is it important?

After more than two repeated spontaneous abortions, their causes must be carefully looked for, because, when the real causes of pregnancy loss are not identified, there is a risk that the following pregnancies will end in the same way.

Couples who face such situations should go to an assessment performed by a gynecologist-geneticist-andrologist team to determine the exact cause. Despite this, studies show that 60-70% of couples with repeated unexplained miscarriages continue to try to have a child, without special treatment.

How is a genetic abnormality diagnosed?

Prenatal diagnosis of chromosomal abnormalities includes two stages:

  • Prenatal screening that includes non-invasive tests and aims to detect risky pregnancies, evaluate them and interpret the results. These non-invasive investigations will indicate only a suspected genetic abnormality, with an error rate of 30%;
  • The stage of positive diagnosis that is made by fetal cell harvesting, without affecting in any way the placenta, uterus or baby and which has an accuracy of 98.9%.

About Fertilia Medical Center

Fertilia Medical Center is an ultra-specialized medical center in infertility, maternal-fetal medicine and complex gynecology. With over 17 years of experience in the private and state system, Fertilia Medical Center has the only laser for embryos in Romania. For more details, go to: // or the Facebook page: //

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