侵入性产前基因诊断中荧光定量聚合酶链反应分析的困惑发现：一例报告
Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.
作者信息
Chen Cui, Tang Tao, Song Qi-Ling, He Yong-Jun, Cai Yan
机构信息
Genetic and Prenatal Diagnosis Center, Affiliated Hospital of North Sichuan Medical College, Nanchong 637000, Sichuan Province, China.
出版信息
World J Clin Cases. 2023 Oct 6;11(28):6895-6901. doi: 10.12998/wjcc.v11.i28.6895.
BACKGROUND
Quantitative fluorescent polymerase chain reaction (QF-PCR) is a rapid prenatal diagnostic method for abnormalities on chromosomes 21, 18, and 13 and sex chromosomal aneuploidy. However, the value of QF-PCR in diagnosing chromosomal structural abnormalities is limited. In this article, we report a confusing QF-PCR finding in a pregnant woman who underwent amniocentesis.
CASE SUMMARY
The short tandem repeat marker AMXY (Xp22.2/Yp11.2) located on the sex chromosome exhibited a trisomic biallelic pattern, indicating that the karyotype of the fetus might be 47,XYY. Chromosome analysis performed on cultured amniocytes showed a normal male karyotype of the fetus. Copy number variation sequencing confirmed a 500 kb duplication at Yp11.2-Yp11.2 (chrY:6610001_ 7110000) and a 250 kb duplication at Yp11.2-Yp11.2 (chrY:7110001_7360000).
CONCLUSION
In conclusion, the comprehensive application of different methods could achieve a higher detection rate and accuracy for the prenatal diagnosis of chromosomal disorders through chromosomal testing.
背景
荧光定量聚合酶链反应（QF-PCR）是一种用于快速产前诊断21、18和13号染色体异常以及性染色体非整倍体的方法。然而，QF-PCR在诊断染色体结构异常方面的价值有限。在本文中，我们报告了一名接受羊膜穿刺术的孕妇中令人困惑的QF-PCR检测结果。
病例摘要
位于性染色体上的短串联重复序列标记AMXY（Xp22.2/Yp11.2）呈现三体双等位基因模式，表明胎儿的核型可能为47,XYY。对培养的羊水细胞进行的染色体分析显示胎儿的核型为正常男性核型。拷贝数变异测序证实Yp11.2 - Yp11.2（chrY:6610001_7110000）存在500 kb的重复，以及Yp11.2 - Yp11.2（chrY:7110001_7360000）存在250 kb的重复。
结论
总之，通过染色体检测，不同方法的综合应用可实现更高的染色体疾病产前诊断检出率和准确性。
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