Prenatal diagnosis, as a general concept, can be described as the identification of problems of the fetus. The diagnosis of fetal abnormalities or diseases, as a promising field, has become of wide interest, especially due to the latest advances in engineering science and medicine. If the disease is curable in utero, it provides timely assistance and, if treatment requires emergency postpartum intervention, this gives a chance to prepare all the necessary conditions in advance. Finally, in situations of incurable diseases, such a diagnosis allows the discussion of possible termination of pregnancy.

How Is Prenatal Diagnosis Performed?

Today, there are many ways to perform prenatal diagnostics. Some of them are performed by methods that do not involve any risk or discomfort to the mother (non-invasive prenatal diagnosis), while others can pose a danger to the mother and fetus (invasive prenatal diagnosis). This article will briefly describe the non-invasive methods that we use to diagnose the fetus in the womb.

Ultrasound examination during pregnancy in prenatal diagnostics (diagnostics in the womb) is performed using an ultrasound device that, by sending sound waves to the patient’s body through its sensors, studies the characteristics of the returning sound. The sound waves that are sent and returned make the tissues distinguishable from each other and thus make it possible to evaluate the organs. Ultrasound during pregnancy is the most frequently used non-invasive diagnostic method. Due to ultrasound examination during pregnancy, you can detect various problems at different stages of pregnancy. For example, with an ultrasound performed at the beginning of pregnancy, we can find out whether the pregnancy occurs inside or outside the uterus (ectopic pregnancy), accurately determine the number of fetuses (single or multiple pregnancy), the presence of heart contractions, whether the gestational age matches with the actual age of the fetus (dating), as well as the presence of gynecological problems (fibroids, cysts, etc.). In addition, in the first trimester of pregnancy, serious structural abnormalities of the fetus can be detected (intracranial, central nervous system abnormalities, large heart and chest abnormalities, anterior abdominal wall defects, kidney, and urinary tract abnormalities, etc.). In later stages of pregnancy, ultrasound can detect most of the structural problems of the baby. An ultrasound examination during pregnancy can also determine whether the development of the fetus in the womb is consistent with its peers (fetal growth restriction or fetal size), and thus makes it possible to plan the pregnancy accordingly. With the help of ultrasound, it is also possible to understand whether there are such placental pathologies as presentation and invasion anomalies (placental ingrowth: placenta accreta, increta, and percreta). A lack of amniotic fluid (oligohydramnios) or an excess of it in the fetus are also conditions that can be discovered by ultrasound. Ultrasound can also predict whether a pregnancy is dangerous in terms of the occurrence of preterm birth by measuring the length of the cervix. This allows taking appropriate measures to prevent preterm birth. Ultrasonography, as described above, is the most commonly used and very useful diagnostic tool for examining the fetus in the womb. Some images of ultrasonography during pregnancy are shown in Figure 1.