Diagnosis of Congenital Anomalies during Routine Fetal Surveillance

Abstract

Background 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. Definition of fetal anomalies 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. Etiology 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. Conclusion 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. How to cite this article 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.

A Review of Five Cases of Fetal Congenital Anomalies Diagnosed during Prenatal Ultrasound: Management Problems and Limitations

“…It can be concluded that ultrasound application for fetal surveillance is one of the most important tools for evaluation of fetal well-being and diagnosis of different, major and minor, anomalies which if detected on time can rescue the mother and fetal life by changing the way of managing the pregnancy and delivery. 6 This is seen in the last case where a minor anomaly was detected but on meticulous follow-up repeat scan the anomaly disappeared. Complications were observed in the first and fourth cases.…”

“…5 About 20% of anomalies in live-born infants are based on defective gene, 10% are due to chromosomal abnormalities, and 10% are due to exogenous injury to the conceptus. 6 Some 60% of all congenital anomalies are of indeterminate cause or are multifactorial in origin (due to hereditary or environmental factors). 6 In Africa, all these factors may play a role, for example, nutritional deficiencies (folic acid, iodine), maternal diseases (diabetes, thyroid diseases), maternal exposure to harmful substances in pregnancy (lead, dichlorodiphenyltrichloroethane, radiations), maternal infections in pregnancy (rubella, cytomegalovirus, Zika virus, syphilis), use of herbal concoctions as medication which may potentially contain teratogenic agents in pregnancy, and pregnancy at or above 35 years.…”

“…Because of improvement in other areas of perinatal care, birth defects are the single most common cause of perinatal mortal mortality in developed countries, accounting for 20 to 25% of perinatal deaths. 6 Effective prenatal care involves screening examinations in pregnancy among other measures. Among the various tests now offered to pregnant women, ultrasound has the broadest diagnostic spectrum.…”

“…Among the various tests now offered to pregnant women, ultrasound has the broadest diagnostic spectrum. 6 There is no modality that can detect as many abnormalities during pregnancy as ultrasound. 6 A priority goal in screening is early detection of major fetal anomalies.…”

“…6 There is no modality that can detect as many abnormalities during pregnancy as ultrasound. 6 A priority goal in screening is early detection of major fetal anomalies. 5 Early detection will provide an opportunity for early counseling and intervention in the form of treatment or pregnancy termination where available and legally possible.…”