Assesing the effectivity of early fetal cardiac examination on prenatal diagnosis

Objective

Although advancements happened in ultrasound technologies and intensive studies done about getting fetal DNA from maternal serum, invasive prenatal tests are still preserving their indispensability. Maternal age of 35 years is not accepted as an indication for fetal caryotyping in many centers anymore but sometimes because of maternal anxiety and sometimes by thepreference of the physicians, invasive prenatal tests are still applied to women over 35 years.
Study Design: In our study we assessed the patients who had amniocentesis because of maternal anxiety by fetal echocardiography before the procedure than we compared them as normal echocardiography and abnormal echocardiography according to caryotype results.

Study Design

In our clinic between January 2012 and July 2014 totally 494 numbers of amniocentesis, chorion villus sampling and chordocentesis were done for fetal caryotyping. Totally 43 abnormal fetal caryotype was diagnosed. The indications for invasive prenatal testing were; abnormal screening test results for 251 patients, abnormal sonographic findings for 127 patients, anamnesis of abnormal caryotype in previous pregnancies for 11 patients, maternal anxiety for 105 patients. Abnormal caryotype was found in 5 of 105 patients (4,7%) whom had amniocentesis for maternal anxiety. Among these 105 patients fetal echocardiography was performed in 82 of them and abnormal echocardiographic findings were stated in 18 patients(17,1%). Of the 64 patients who had normal fetal echocardiography only 1 had abnormal caryotype (1,5%), but of the 18 patients who had abnormal fetal echocardiography 3 had abnormal caryotype (16,7%). In 1 patient who had normal fetal echocardiography the caryotype was Trisomy 21, in a patient who had Trisomy 18 invasive test was performed before 15th week of pregnancy and fetal cardiac assessment was not
sufficient in this gestational week and this patient would not be assessed again because she dıd not come her next prenatal visits. Trisomy 21 was found in 2 patients who had fetal atrioventricular septal defect and Turner syndrome was found in 1 patient who had fetal aort coarctation. Our study is still going on and the preliminary data were presented.

Conclusion

In our study we assessed the patients who had invasive prenatal testing because of maternal anxiety with fetal echocardiography before the procedure and we are searching the effectivity of fetal cardiac examination on prenatal diagnosis in patients who had normal screening test results or who did not perform any screening tests. Till now with the data we get we observed that with the addition of fetal cardiac examination to the screening programs prenatally detection of karyotype anomalies will increase. By the time our study is going on and as the data increases we will publish the results later.

Keywords

Amnicentesis, prenatal diagnosis, fetal echocardiography

	File/Dsecription
	Table 1 Abnormal fetal echocardiography