Congenital anomalies are relatively common, occurring in 3 to 4 percent of live births, and today they are one of the most common causes of death in newborns and infants, even in the most developed countries.
These anomalies can occur in all organs and systems, but they are most common in the heart (congenital heart defects), followed by the kidneys, intestines and brain.

GENETIC ERRORS

The most common reason for the occurrence of congenital anomalies are genetic errors that occur at conception, that is, very early.
These mistakes most often happen by accident, with otherwise completely healthy parents, but often also with those children whose parents or their ancestors are carriers of some mutation. Other reasons for the occurrence of congenital anomalies are viral infections in early pregnancy, exposure to X-ray radiation, taking some medications by the mother or illness of the mother (such as diabetes, epilepsy, systemic lupus, etc.).

Almost half of these anomalies lead to death or severe disorders in the fetal period or immediately after birth, so it is very important to recognize them in time, before the child is born. Today, this is achieved through prenatal diagnosis
By prenatal diagnostics, we mean all procedures that detect structural and functional disorders before birth, such as ultrasound diagnostics, maternal and fetal blood analysis, magnetic resonance imaging, and the like.

Due to the prevalence and non-invasiveness and availability for prenatal detection of congenital heart defects, ultrasound diagnostics is the most reliable. During the routine ultrasound examination of the fetus (which is performed today in almost every pregnant woman in Serbia, at least once during pregnancy), every gynecologist should pay special attention after 20 weeks of gestation. to address the morphology of the fetal heart. If there are doubts about changes in the structure or size of the heart, a detailed examination by a pediatric cardiologist is necessary.

By analyzing the genetic material of the fetus (obtained by biopsy of the chorionic villi, amniocentesis or cordocynthesis), the existence of a fetal heart defect cannot be ruled out, but on the other hand, it is mandatory to perform karyotyping in every fetus in which a heart defect is detected, in order to rule out severe associated anomalies that may lead to psychomotor retardation or other severe disability. Pregnancy treatment and treatment success is not the same for all congenital heart defects. According to treatment options and long-term prognosis, all congenital heart defects can be roughly classified into four groups.

• • • The first group consists of congenital anomalies with a good prognosis, in which most often no therapy is necessary (spontaneous closure of some defects is even possible), such children are capable of a normal life, even for active sports.
    • The second group of heart defects consists of those that can be corrected only with one surgical intervention (or the intervention of a cardiologist during cardiac catheterization), after which such children can also lead a normal life, without physical limitations.
    • In the third group, there are more severe heart defects, which require one or more operations in their lifetime, but the majority of these patients have an expected length of life, preserved working capacity and are able to have their offspring (women can carry a pregnancy normally). These anomalies are the most numerous, and with them it is very important to carefully perform a complete diagnosis and exclude associated anomalies on other organs, or some genetic anomaly. After giving detailed information to the parents, this baby is carefully monitored until birth, and the pregnant woman is advised to give birth in one of the major hospital centers, in case the newborn needs surgery immediately after birth.
    • The fourth group has the most severe heart defects, which cannot be completely surgically corrected, but it is possible to perform several auxiliary operations that prolong life, but the long-term prognosis for these patients is generally poor. Fortunately, the smallest percentage of defects fall into this fourth, most severe group.

ETHICS BOARD

In the aforementioned situations, parents have the legal right to request termination of pregnancy, and for this purpose they submit an application to the Ethics Committee (and large gynecological-obstetrical clinics) together with the opinion and prognosis of the Council for Fetal Anomalies or experts in specific fields (for example, an experienced pediatric cardiologist). . The ethics committee will approve the termination of pregnancy if the congenital anomaly is such that it is certain that it would represent pain, suffering and burden for the sick child, parents and society as a whole, and that the modern method of treatment cannot ensure a long and quality life for such a child.

There are a small number of congenital heart defects that cannot be detected prenatally, because some “openings” are a normal, physiological phenomenon during fetal life or because of different characteristics of the fetal circulation. In addition, like other diagnostic methods, ultrasound is a “subjective” method, which is based on the doctor’s interpretation of what he sees on the monitor of the ultrasound machine. Special problems with the ultrasound examination of the fetus are the small dimensions of the heart and the fast heart rate, the movement of the baby during examination, unfavorable position of the baby, obesity of the mother, etc.. Although the formation of cardiac structures ends in the first two months of pregnancy, there are some anomalies that can manifest themselves later during fetal development, so pregnant women should know that a normal ultrasound finding in the first half pregnancy does not mean for sure that there will be no anomalies (therefore, periodic ultrasound examinations are required even in the last trimester of pregnancy)

Ultrasound examination of the baby’s heart before birth (fetal echocardiography) has multiple significance today. First of all, it is important for both parents and doctors (gynecologists and pediatricians) to rule out the existence of some congenital heart defects in the fetus, because it has already been said that these are by far the most common congenital anomalies (one baby has a congenital heart defect in every 120 births). .

If, however, a congenital anomaly of the heart is detected in the fetus, the most important task is to rule out associated anomalies in other organs or a “mistake” in the structure of the chromosomes. After this, the task of an experienced pediatric cardiologist who performs prenatal ultrasound examination is to provide the parents with a precise explanation of the nature of the congenital heart defect and the possibilities of surgical treatment. On these occasions, parents are quite rightly interested in not only how long the child can live after surgery for such a defect, but also what the quality of life is like. As already written earlier, the prognosis for most congenital heart defects (the first three groups of anomalies) is very good, with adequate surgical correction.

There are some severe congenital heart defects that can be successfully corrected surgically, but for them it is important to start therapy in the first hours after birth. Therefore, with these anomalies, early detection during pregnancy and birth planning in a large gynecological center, close to a children’s heart surgery center, is very important, so that the baby can be transferred on time and all necessary therapeutic measures can be taken.

And finally, but not least, the role of fetal echocardiography is also in detecting the most severe congenital heart defects (fourth group) in which, despite modern cardiac surgery, the length and quality of life are not so good. It is very important to detect these heart defects early, so that in case of parents’ request for termination of pregnancy, they can be referred to the Ethics Committee in time.

Therefore, it is most important that future parents know that congenital heart defects are possible
to be detected before birth, and that, although they are relatively common, most of them can be successfully cured. Prenatal diagnosis is very important in order to familiarize the parents with its type and treatment options before birth, and to rule out possible associated anomalies that may to worsen their prognosis, as well as to plan the way, time and place of childbirth in a timely manner.

Professor Dr. Vojislav Parezanović,
Pediatrician – cardiologist