Moczulska Hanna, Chrzanowska-Steglinska Marta, Skoczylas Beata, Wojda Katarzyna, Borowiec Maciej, Sieroszewski Piotr
Department of Clinical Genetics, Medical University of Lodz, Poland.
Department of Fetal Medicine and Gynecology, Medical University of Lodz, Poland.
Ginekol Pol. 2023 Mar 28. doi: 10.5603/GP.a2022.0143.
Foetal karyotyping is a basic tool used to diagnose the most common genetic syndromes. Although new molecular methods such as FISH, MLPA or QF-PCR allow rapid prenatal testing, they are of limited value when diagnosing less frequent chromosomal abnormalities. Chromosomal microarray analysis offers higher test resolution than traditional karyotyping and has been recommended as first-line genetic testing in prenatal diagnosis. The aim of the study was to confirm whether foetal karyotyping remains a valid approach to prenatal diagnosis by analysing its performance in a large population of pregnant women with a high risk of chromosomal aberration.
An analysis was performed of 2169 foetal karyotypes from two referral university centres for prenatal diagnostics in Lodz, Poland.
Amniocentesis and foetal karyotyping were performed when screening methods had indicated a high risk of chromosomal aberration, or when prenatal ultrasound had proved foetal abnormality. The study group included 205 (9.4%) abnormal foetal karyotypes. Rare aberrations were observed in 34 cases (e.g., translocations, inversions, deletions and duplication). A marker chromosome was present in five cases.
One third of the chromosomal abnormalities observed in the prenatal tests were rarer aberrations (i.e., not trisomy 21, 18 or 13). As many of these could not be detected by the new molecular methods, foetal karyotyping remains an important component of prenatal diagnosis.
胎儿核型分析是用于诊断最常见遗传综合征的基本工具。尽管诸如荧光原位杂交（FISH）、多重连接探针扩增技术（MLPA）或荧光定量聚合酶链反应（QF-PCR）等新的分子方法可实现快速产前检测，但在诊断不太常见的染色体异常时，其价值有限。染色体微阵列分析比传统核型分析具有更高的检测分辨率，并已被推荐作为产前诊断的一线基因检测方法。本研究的目的是通过分析其在大量具有高染色体畸变风险的孕妇中的表现，来确认胎儿核型分析是否仍是产前诊断的有效方法。
对来自波兰罗兹两个产前诊断转诊大学中心的2169例胎儿核型进行了分析。
当筛查方法显示染色体畸变风险高，或产前超声证实胎儿异常时，进行羊膜穿刺术和胎儿核型分析。研究组包括205例（9.4%）异常胎儿核型。在34例中观察到罕见畸变（如易位、倒位、缺失和重复）。5例存在标记染色体。
产前检测中观察到的染色体异常中有三分之一是较罕见的畸变（即非21、18或13三体）。由于其中许多畸变无法通过新的分子方法检测到，胎儿核型分析仍然是产前诊断的重要组成部分。
