A Retrospective Analysis of the Spectrum of Congenital Malformations Diagnosed Prenatally Based on the Lviv Medical Genetics Center during 2018-2020 yy

Abstract

Introduction. According to the WHO, about 3 % of infants worldwide are born with a congenital malformation (CM). The aim of the study. To conduct a retrospective analysis of the spectrum of congenital malformations diagnosed during pregnancy based on the Lviv Medical Genetics Center during 2018-2020 yy. Materials and methods. Clinical and epidemiological, as well as medical and statistical data on CM diagnosed prenatally between 2018-2020 were collected from primary source documents (Form No. 49) and then analyzed at the Lviv Medical Genetics Center ʺInstitute of Hereditary Pathology, National Academy of Medical Sciences of Ukraineʺ, Lviv. The Student’s t-test was used to determine the difference between the arithmetic means. The null hypotheses were tested using a t-test at the significance level of p-value less than 0.05. Results. A total of 11062 pregnant women were examined between 2018-2020: CM at different stages of pregnancy were diagnosed in 454 cases, which accounted for 4.1 % of cases and did not exceed the population value. There was a 2.3-fold reduction in the number of pregnant women presented to the Medical Genetics Center in 2020, probably due to the global coronavirus pandemic – from 5007 women in 2018 to 2212 females in 2020. However, the number of CM diagnosed prenatally in 2020 was not statistically significant (p-value more than 0.05) as compared to the average value for these years and 2018. In 2018, a total of 5007 pregnant women were examined at the Lviv Medical Genetics Center. In 136 (4.8 %) cases, fetal malformations were diagnosed before 22 weeks of gestation, while in 26 (1.2 %) cases, pregnancy was affected by congenital anomaly in its second half. In 2019, there were examined 3843 pregnant women. In169 (7.8 %) cases, CM were diagnosed before 22 weeks of gestation, that was statistically significant as compared to 2018 (p-value less than 0.05) and in 20 (1.2 %) cases, fetal anomalies were detected in the second half of pregnancy, that was not statistically significant as compared to the previous year (p-value more than 0.05). In 2020, we examined 2212 pregnant women. Reducing the number of visits to our medical center was probably due to the coronavirus pandemic. There were95 (5.0 %) cases of fetal malformations diagnosed before 22 weeks of gestation and 8 (2.5 %) cases of congenital anomalies detected in the second half of pregnancy. The number of CM diagnosed prenatally was the highest in 2019 – 4.9 %; however, there was no statistically significant difference (p-value more than 0.05) in the average values for these years – 4.1 % and 3.2 % in 2020 and 2018, respectively. In 2020, the incidence of congenital malformations diagnosed after 22 weeks of gestation was significantly higher (p-value less than 0.05) than in other years – 2.5 % and 1.2 %, respectively. Conclusions. Between 2018-2020, the incidence of congenital malformations diagnosed at different stages of pregnancy was 4.1 %. Congenital malformation s of the nervous system (Q00-Q07) were the most common anomalies diagnosed before 22 weeks of gestation, while after 22 weeks, the most common malformations were congenital malformations of the urinary system (Q60-Q64). Qualified timely diagnosis of correctable developmental deficiencies, as well as team efforts of obstetricians, neonatologists, pediatric neurologists, pediatricians, and other health care professionals to ensure normal childbirth and provide a baby with specialized care, followed by life-time rehabilitation are the main tasks of prenatal medicine.