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Single Nucleotide Polymorphism Array Versus Karyotype for Prenatal Diagnosis in Fetuses With Abnormal Ultrasound: A Systematic Review and Meta-analysis

机译:单核苷酸多态性阵列与核型在超声异常胎儿产前诊断中的系统评价和荟萃分析

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摘要

(Abstracted from Eur J Obstet Gynecol Reprod Biol 2022;271:235–244) Chromosomal aberrations occur at a frequency of approximately 1 in 150 to 200 live births and are one of the most important causes of congenital anomalies and miscarriages. The introduction of chromosomal microarray (CMA) in the 1990s advanced the detection of chromosomal aberrations to include small copy number variants that previously were not detectable when only karyotype was used.
机译:(摘自 Eur J Obstet Gynecol Reprod Biol 2022;271:235-244)染色体畸变的发生频率约为1/150至200活产,是先天性异常和流产的最重要原因之一。1990 年代引入染色体微阵列 (CMA) 推进了染色体畸变的检测,包括以前仅使用核型时无法检测到的小拷贝数变异。

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