Effectiveness of fetal ultrasound diagnostics in cardiac malformations and association with polyhydramnios and oligohydramnios.

BACKGROUND: Examine the effectiveness of prenatal ultrasound diagnostics in the detection of cardiovascular malformations, and their association with polyhydramnios and oligohydramnios. METHODS: We examined the fetal ultrasonography and postnatal clinical/fetopathological data of 372 newborns/fetuses over a 7-year period in a tertiary centre. Fetal echocardiography was performed in cases of suspected US findings between 18-32 weeks. During the ultrasound the amniotic fluid amount was measured and the amniotic fluid index (AFI) or largest amniotic fluid pocket was determined. RESULTS: Prenatal ultrasonographic results and postnatal/fetopathological diagnosis were fully congruent in 236/372 cases (63.4%), and in 66/372 cases of cardiovascular anomalies (17.7%) the discovery was partial, while in 70/372 cases no fetal cardiovascular anomalies were diagnosed during pregnancy (18.8%) (false negative). Cardiovascular malformations were isolated in 255 cases, in 172 of which (67.5%) the results of prenatal ultrasonography and postnatal diagnostics were fully congruent. In 43 cases (16.9%) the prenatal discovery was partial, and in 40 cases (15.7%) there was no prenatal recognition of the malformation. Cardiovascular abnormalities were found as a part of multiple malformations in 76 cases. In 41 fetuses the cardiovascular malformation was associated with chromosomal abnormalities. Cardiovascular malformations were significantly associated with polyhydramnios. Although in some of the cardiovascular malformations the association rate with polyhydramnios was high (AVSD, double outlet right ventricle, tetralogy of Fallot), we found a moderate association rate (19.7%). The association with oligohydramnios was 8.57%. CONCLUSIONS: Echocardiography plays an important role in the prenatal diagnostics. In cases of polyhydramnios and oligohydramnios, fetal echocardiography should be performed.

Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period.

Prenatal testing has changed greatly over the past two decades, which may affect the diagnosis of congenital heart disease (CHD) in Down syndrome. The present study aimed to analyze changes in the prevalence and distribution of CHD diagnosed via ultrasonography and fetopathology in 462 fetuses with trisomy 21 between two consecutive 10-year periods (1999-2018), as well as the associations between CHDs, ultrasound markers, and extracardiac malformations. Overall, the frequency of cardiovascular malformations in trisomy 21 was 27.7 and 26.5%, and ultrasound identified 70 and 62% of CHDs during these periods. A profound increase in first-trimester ultrasound findings and associated anomalies with CHDs (ventricular septal defect, Tetralogy of Fallot) since 2009 were observed. Second-trimester nonstructural heart abnormalities were associated with ultrasound anomalies (74%) and major extracardiac malformations (42.9%). During both study periods, mothers carrying fetuses with CHD were significantly younger than those without CHD (p = 0.038, p = 0.009, respectively). Comparing the two 10-year periods, there were no changes in the prevalence and detection of CHDs. Trend analysis revealed that, although the frequency of CHD remained stable, the diagnostic spectrum had shifted between the study periods. Detection of nonstructural heart abnormalities necessitates detailed follow-up for cardiac/extracardiac malformations and chromosomal disorders.

Efficacy of Prenatal Ultrasound in Craniospinal Malformations According to Fetopathological and Postnatal Neonatological, Pathological Results.

OBJECTIVE: Our objective is to examine the effectiveness of prenatal ultrasound diagnosis of craniospinal malformations compared to postnatal neonatological and pathological findings. METHODS: Over a 7-year period, we preformed approximately 82.500 prenatal ultrasounds of 26.827 pregnancies. We detected 290 fetuses with 351 craniospinal malformations. RESULTS: Craniospinal abnormalities were found as a part of multiplex malformations in 84/290 cases: in 47/84 cases (55.95%) there was complete concurrence between prenatal and postnatal results. In 15/290 fetuses the craniospinal malformation was associated with chromosomal abnormalities. In 9/15 (60%) of these fetuses, malformations were fully diagnosed with ultrasound. Isolated craniospinal malformations occurred in 191/290 cases, in 162/191 (84.82%) the results of prenatal ultrasonography and postnatal or post abortion examinations showed complete concurrence. In addition to the 290 fetuses with craniospinal malformations, there were an additional 17 who were thought by ultrasound to have a craniospinal malformation, which could not be documented after birth (false positives). CONCLUSIONS: Prenatal ultrasound accurately diagnosed 218/290 (75,17%) craniospinal abnormalities, and partially defined the abnormalities in 9.66%, failed to detect abnormalities in 15.17%, with an approximate 0.06% false detection rate.