Ekmekci Emre, Gencdal Servet, Demirel Emine, Kelekci Sefa
Izmir Katip Celebi University, School of Medicine, Obstetrics and Gynecology Department, Maternal - Fetal Medicine Unit.
Izmir Katip Celebi University, Ataturk Education and Research Hospital, Obstetrics and Gynecology Department, Izmir Turkey.
Medicine (Baltimore). 2019 Feb;98(7):e14599. doi: 10.1097/MD.0000000000014599.
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.
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.
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).
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.
在过去20年里，非整倍体的产前筛查发生了巨大变化。但仍没有非侵入性诊断测试。因此，由于孕妇焦虑，产前侵入性检查仍在常规进行。心脏异常与非整倍体异常发现之间的关联早已为人所知。本前瞻性研究旨在评估因孕妇焦虑而接受诊断性侵入性检查的患者的胎儿心脏检查（FCE）异常结果，并评估心脏异常结果对异常核型的预测价值。
本研究纳入了2013年3月至2016年9月因孕妇焦虑指征而接受产前诊断性侵入性检查的患者。研究组在侵入性检查前立即进行FCE。胎儿心脏检查结果分为正常、主要-次要心脏异常和软指标。根据心脏检查结果对各组胎儿核型进行比较。
在此期间，因孕妇焦虑进行了182次侵入性检查。FCE检测到29项异常结果。共检测到7例异常核型。7例异常核型中有5例FCE异常（71.4%）。主要心脏异常的存在对异常核型的预测性最强（阳性似然比：96.67，阴性似然比：0.34）。未检测到次要心脏异常与异常核型之间的关联。正常FCE似乎是正常核型的良好预测因素（阴性似然比：0.20）。
这是第一项评估早期胎儿心脏检查结果对胎儿非整倍体诊断能力的研究。本研究表明，将胎儿心脏检查结果应用于非整倍体筛查的遗传咨询，可能对患者对侵入性检查的偏好有效。由于检测到的异常结果和核型数量较少（而非大样本研究组），需要对大样本研究组进行进一步研究以证实这些结果。
