Birth defects are common in human development. Approximately 3% of newborns have a recognizable major anomaly, and at least 5% will ultimately be diagnosed with a congenital defect. Because of improvements in other areas of prenatal care, birth defects are the single most common cause of perinatal mortality in developed countries, accounting 20 to 25% of perinatal deaths. Now, many genetic and other disorders can be diagnosed early in pregnancy. Screening examinations during pregnancy are an essential part of prenatal care. Among the various screening tests that are now offered to pregnant women, ultrasound (US) has the broadest diagnostic spectrum. There is no modality that can detect as many abnormalities during pregnancy as US. A priority goal in screening is the early detection of major fetal anomalies, which are defined as malformations that affect fetal viability and/or quality of life. During the past 10 years, some multicentric studies in Europe and USA show the successfulness of US diagnostics in detecting congenital abnormalities, even in women with low-risk pregnancy.

Any deviation from the normal range during morphogenesis, constitutes an anomaly. Major anomalies are malformations that affect viability and/or the quality of life and require intervention, and minor anomalies are malformations that are definitely present, but are minimal and usually have no functional significance (e.g. ear tags). Incidence data on major congenital anomalies vary considerably, depending on the type of detecting system used. The passive detection system reports 2 to 3% of newborns, meanwhile the active detection system, in which newborns are systematically examined by trained obstetricians, reports the incidence of congenital defects in 7.3% of all newborns.

About 20% of anomalies in live-born infants are based on a defective gene, 10% are due to chromosomal abnormalities and 10% are mainly due to exogenous injury to the conceptus. Some 60% of all congenital anomalies are indeterminate or multifactorial causes (hereditary factors and environmental influences). Ultrasound can detect about 74% of major birth defects and possibly a higher number, when conducted by a well-trained specialist. We have demonstrated in this paper some fetal anomalies found by US during our practice in Kosovo. There are some different anomalies of almost all systems of the organs of the fetal body, some of them more frequent and some very rare anomalies.

Ultrasound diagnostic is a very useful method for evaluating the fetal health, fetal anomalies, anomalies of placenta and amniotic fluid as well as umbilical cord.

Sylejmani S, Syla B, Shala S. Diagnosis of Congenital Anomalies during Routine Fetal Surveillance. Donald School J Ultrasound Obstet Gynecol 2015; 9(2):159-174.