Yahya Dinnar, Hachmeriyan Mari, Stoyanova Milena, Levkova Mariya
Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria.
Med Sci (Basel). 2024 Dec 29;13(1):3. doi: 10.3390/medsci13010003.
: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value. Our study is the first to describe NIPT integration in Bulgaria. We aimed to evaluate current trends in demand and referral, the frequency of high-risk results, cases of fetal sex discrepancies and their impacts, as well as commonly held misconceptions during genetic counseling. We also address issues and necessary general prophylaxis and prenatal care improvements. : We performed a retrospective analysis on the pregnant women who received GC for NIPT in our genetic center between 2016 and 2023. We separated this period into two due to a significant difference in the test's price. A total of 635 women were included with their referral indications, panel width preference, fetal sex, and SCA. We assessed cases of fetal sex discrepancy, high-risk pregnancies, late NIPT (after GW 18), and commonly occurring issues and misconceptions. : We observed a significant increase in the demand for NIPT-63 women for 2016-2020 versus 572 for 2021-2023. The leading indications were supervision of normal pregnancy (50.4%) and advanced maternal age (>35 years) (31.2%). As for late NIPT, the most common indications for this late testing were high risk from a maternal serum screening test (33.3%) and anxiety (25%). Further, 1.1% of results were high-risk for trisomy 18 and 21 and monosomy X. We reviewed two cases of fetal sex discrepancy (0.3%) and common misconceptions twice more during pre-test GC. : This single-center experience shows that demand for NIPT is exponentially growing, especially as a normal pregnancy screening method. Delivering thorough education to the community and guaranteeing outstanding care during genetic counseling sessions is crucial for fostering informed decisions and overall well-being.
无创产前检测（NIPT）是一种广泛应用于染色体疾病产前筛查的方法。它的引入开启了在分析前和分析后为女性提供咨询的实践。由于该检测在不同条件下的使用情况已确立，比较来自不同社会经济和文化背景的数据将具有科学价值。我们的研究是首个描述NIPT在保加利亚应用情况的研究。我们旨在评估当前需求和转诊趋势、高风险结果的频率、胎儿性别差异的案例及其影响，以及遗传咨询过程中普遍存在的误解。我们还探讨了相关问题以及必要的一般预防措施和产前护理改进措施。
我们对2016年至2023年期间在我们遗传中心接受NIPT遗传咨询的孕妇进行了回顾性分析。由于检测价格存在显著差异，我们将这一时期分为两个阶段。共有635名女性被纳入研究，记录了她们的转诊指征、检测套餐偏好、胎儿性别和性染色体非整倍体情况。我们评估了胎儿性别差异的案例、高危妊娠、孕18周后进行的晚期NIPT，以及常见问题和误解。
我们观察到对NIPT的需求显著增加——2016年至2020年有63名女性，而2021年至2023年有572名。主要指征是正常妊娠监测（50.4%）和高龄产妇（>35岁）（31.2%）。至于晚期NIPT，这种晚期检测最常见的指征是母血清筛查检测显示高风险（33.3%）和焦虑（25%）。此外，1.1%的结果显示18三体、21三体和X单体为高风险。我们回顾了两例胎儿性别差异的案例（0.3%），并且在检测前的遗传咨询过程中又发现了两倍数量的常见误解。
这项单中心经验表明，对NIPT的需求呈指数级增长，尤其是作为一种正常妊娠筛查方法。对社区进行全面教育并在遗传咨询过程中确保提供优质护理对于促进明智决策和整体健康至关重要。
