Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.,Clinical Genetics

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Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-07-06 , DOI: 10.1111/cge.13810
Laia Rodriguez-Revenga _{1,

2,

3} , Irene Madrigal _{1,

2,

3} , Antoni Borrell _{2,

4} , Josep M Martinez _{2,

4} , Joan Sabria ₄ , Lourdes Martin ₅ , Wladimiro Jimenez _{1,

3,

6} , Aurea Mira ₇ , Celia Badenas _{1,

2,

3} , Montserrat Milà _{1,

2,

3}

Affiliation

Chromosomal microarray analysis (CMA) has now replaced karyotyping in the analysis of prenatal cases with a fetal structural anomaly, whereas in those pregnancies undergoing invasive prenatal diagnosis with a normal fetal ultrasound, conventional karyotyping is still performed. The aims of this study were to establish the diagnostic yield of CMA in prenatal diagnosis, and to provide new data that might contribute to reconsider current practices. We reviewed 2905 prenatal samples with a normal rapid aneuploidy detection test referred for evaluation by CMA testing. Our study revealed pathogenic and reported susceptibility copy number variants associated with syndromic disorders in 4.8% (n = 138/2905) of cases, being 2.8% (n = 81/2905) the estimated added diagnostic value of CMA over karyotyping. Clinically significant CMA abnormality was detected in 5.4% (107/1975) of the fetuses with ultrasound anomalies and in 1.4% (5/345) of those considered as low‐risk pregnancies. Our series shows that in prenatal samples, CMA increases 2‐fold the diagnostic yield achieved by conventional karyotyping.

中文翻译：

在正常快速非整倍性测试结果之后，应为所有有创产前诊断测试提供染色体微阵列分析。

染色体微阵列分析（CMA）现在已在胎儿结构异常的产前病例分析中取代了核型分析，而在那些通过正常胎儿超声进行侵入性产前诊断的妊娠中，仍进行常规核型分析。这项研究的目的是确定产前诊断中CMA的诊断率，并提供可能有助于重新考虑当前实践的新数据。我们使用正常的快速非整倍性检测测试对2905个产前样品进行了回顾，以通过CMA测试进行评估。我们的研究显示，与综合征相关的致病性和易感性拷贝数变异在4.8％（n = 138/2905）的病例中，占CMA在染色体核型分析中的附加诊断价值的2.8％（n = 81/2905）。在5.4％（107/1975）的超声异常胎儿和1.4％（5/345）的低危妊娠胎儿中检测到临床上显着的CMA异常。我们的系列表明，在产前样品中，CMA使常规核型分型获得的诊断产率提高了2倍。

更新日期：2020-07-06

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