Bütün Zafer, Kayapınar Masum, Şenol Gökalp, Akca Ece, Erzurumluoğlu Gökalp Ebru, Artan Sevilhan
Private Clinic, Perinatology, Eskişehir, Türkiye.
Private Clinic, Perinatology, Mersin, Türkiye.
Turk J Obstet Gynecol. 2025 Jun 4;22(2):106-113. doi: 10.4274/tjod.galenos.2025.10673.
In cases requiring fetal diagnostic testing, conventional karyotype analysis is initially preferred. However, quantitative fluorescent-polymerase chain reaction (QF-PCR) or fluorescent in situ hybridization methods are used alongside conventional karyotype analysis to obtain rapid results. If results cannot be obtained from conventional karyotype analysis, chromosomal microarray analysis (CMA) is a reasonable option in necessary cases. In this study, we analyzed the conventional karyotype and CMA results from pregnancies reported as having normal karyotypes by QF-PCR and assessed their correlation with ultrasound imaging results.
Between 2020 and 2023, pregnant women with fetal structural anomalies detected by ultrasound and magnetic resonance imaging at the Eskişehir City Hospital, Clinic of Perinatology were referred to our prenatal diagnosis center. In samples obtained using appropriate diagnostic methods, QR-PCR and conventional karyotype analysis were performed initially. Pregnancies with chromosomal anomalies detected by QF-PCR were excluded from the study. For pregnancies with normal karyotypes, CMA was applied.
In 203 pregnancies with a normal karyotype result from QF-PCR, 202 (99.5%) were reported as normal in conventional karyotype analysis, while 1 (0.5%) case showed deletion of chromosome 7. Among the remaining pregnancies, CMA examination revealed abnormal karyotype results in 25 (12.3%) cases. A relationship was found only between ventriculomegaly detected by ultrasound and CMA results. The prevalence of ventriculomegaly was higher in those with CMA abnormalities (16%) compared to those with normal CMA (4.5%), and this difference was statistically significant (p=0.045).
The benefit of CMA analysis in detecting chromosomal anomalies such as copy number variations, especially in cases reported as having a normal karyotype by QF-PCR and karyotype analysis, is evident. To evaluate the relationship between ultrasound anomalies and CMA results, each community should assess its own results.
在需要进行胎儿诊断检测的情况下，最初首选传统核型分析。然而，定量荧光聚合酶链反应（QF-PCR）或荧光原位杂交方法会与传统核型分析一起使用以快速获得结果。如果无法从传统核型分析中获得结果，在必要情况下，染色体微阵列分析（CMA）是一个合理的选择。在本研究中，我们分析了经QF-PCR报告为核型正常的妊娠的传统核型和CMA结果，并评估了它们与超声成像结果的相关性。
2020年至2023年期间，在埃斯基谢希尔市立医院围产医学诊所通过超声和磁共振成像检测出胎儿结构异常的孕妇被转诊至我们的产前诊断中心。在使用适当诊断方法获取的样本中，首先进行QR-PCR和传统核型分析。通过QF-PCR检测出染色体异常的妊娠被排除在研究之外。对于核型正常的妊娠，进行CMA检测。
在203例QF-PCR核型结果正常的妊娠中，202例（99.5%）在传统核型分析中报告为正常，而1例（0.5%）显示7号染色体缺失。在其余妊娠中，CMA检查在25例（12.3%）中发现核型结果异常。仅发现超声检测到的脑室扩大与CMA结果之间存在关联。与CMA正常者（4.5%）相比，CMA异常者脑室扩大的患病率更高（16%），且这种差异具有统计学意义（p=0.045）。
CMA分析在检测拷贝数变异等染色体异常方面的益处是明显的，尤其是在经QF-PCR和核型分析报告为核型正常的病例中。为了评估超声异常与CMA结果之间的关系，每个社区都应该评估自己的结果。
