Background: Prenatal screening for aneuploidies has seen great changes over the last 2 decades. But there is still no non-invasive diagnostic test. Therefore, prenatal invasive procedures are still being routinely performed due to maternal anxiety. The association of cardiac anomalies and abnormal findings with aneuploidies has been known for a long time. This prospective study was done to evaluate abnormal fetal cardiac examination (FCE) findings on patients undergoing diagnostic invasive procedures due to maternal anxiety and to assess the predictive value of abnormal cardiac findings on abnormal karyotype.
Materials and methods: Patients who underwent prenatal diagnostic invasive tests due to maternal anxiety indication between March 2013 and September 2016 were included in this study. FCE was performed in the study group immediately prior to invasive tests. Findings of fetal cardiac examination are classified as normal, major-minor cardiac anomalies and soft markers. Fetal karyotypes were compared among groups depending on cardiac findings.
Results: One hundred eighty-two invasive procedures were performed because of maternal anxiety during this period. There were 29 abnormal findings detected on FCE. A total of 7 abnormal karyotypes were detected. FCE was abnormal in 5 of the abnormal karyotypes (71.4%). The presence of a major cardiac anomaly was most predictive for abnormal karyotype (LR+: 96,67, LR-: 0,34). No association was detected between the presence of minor cardiac anomalies and abnormal karyotype. Normal FCE appeared to be a good predictive factor for normal karyotype (LR-: 0.20).
Conclusions: This is the first study evaluating the power of early fetal cardiac examination findings on fetal aneuploidies. This study suggested that the application of fetal cardiac examination findings to genetic counseling for screening aneuploidies may be efficient on patients' preference about invasive tests. Due to the small number of abnormal findings and karyotypes detected (not the large study group), further studies on large study groups are needed to confirm these results.