Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey
Department of Obstetrics and Gynecology, Division of Perinatology, Faculty of Medicine, Ege University, İzmir, Turkey
Turk J Med Sci. 2021 Aug 30;51(4):1775-1780. doi: 10.3906/sag-2006-103.
BACKGROUND/AIM: Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center.
The records of 8363 amniocenteses, 626 chorionic villus, and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events.
The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21–25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36–40, 5 times higher in 41–45 and 10-fold in 46–50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cut-off value above and below 1/250 in maternal serum screening test were significant.
These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies.
背景/目的：尽管现在有从母体血液中分离无细胞胎儿 DNA 等尖端技术，但仍广泛使用侵入性产前检测进行产前诊断。本研究旨在评估过去 20 年来在大学医学遗传学中心进行遗传分析的 9297 例接受产前侵入性检测的患者的人口统计学数据、适应证和细胞遗传学结果。
回顾性评估和分析了 8363 例羊膜穿刺术、626 例绒毛膜活检和 308 例脐带穿刺术样本的记录，以评估转诊原因、适应证及其细胞遗传学结果。记录每组的总数和百分比；进行卡方检验和逻辑回归分析，以给出不同事件的统计可能性。
自 2009 年以来，转诊数量显著减少。21 三体、13 三体和 18 三体的风险与母亲年龄的增加呈平行增加。与年龄较大的组相比，在 21-25 岁年龄组中，21 三体妊娠的风险增加了一倍，在 36-40 岁年龄组中增加了 5 倍，在 41-45 岁年龄组中增加了 10 倍。未发现母体血清筛查试验结果与 21 三体之间存在显著线性相关性，但母体血清筛查试验截断值在 1/250 以上和以下的妊娠之间存在显著差异。
这些数据为向参考遗传学部门转诊的频率以及遗传服务的可行性提供了有用的信息。通过审查适应证及其相应结果，我们可以提供宝贵的见解，这将有助于遗传咨询，也有助于制定更有效的遗传策略。
