With the rapid development and adaptation of high-throughput sequencing in clinical settings, application of exome sequencing (ES) has been gradually expanded from pediatric to prenatal diagnosis in recent years. There is an urgent need to establish criteria for clinical grade ES in order to facilitate such a complex testing. The standardization of pre- and post-test consultation, quality control for sample processing process and validation of bioinformatics data analysis, and more importantly data interpretation and reporting, as well as appropriate reporting scope, is of great importance for health care stakeholders. To achieve this, a committee composed of a wide range of healthcare professionals has proposed an ES standard for prenatal diagnosis. This has provided expert opinion on the genetic counseling and reporting standards of prenatal ES for the purpose of applying ES technology in prenatal setting.

Objective:To explore the genetic etiology of a patient with primary infertility and repeated failure of assisted reproductive technology.Methods:Peripheral blood samples of the patient and her husband were collected for the extraction of genomic DNA and clinical exome sequencing. Candidate variants were verified by Sanger sequencing.Results:The patient was found to harbor compound heterozygous variants of the PATL2 gene, namely c. 223-14_223-2del and c. 1369G>T (p.G457*). Sanger sequencing has verified that they were respectively inherited from her father and mother. The patient was diagnosed with oocyte maturation defect type 4. Conclusion:Oocyte maturation arrest due to mutations of the PATL2 gene can result in primary female infertility. Discovery of the novel c. 1369G>T (p.G457*) variant has expanded the spectrum of pathogenic variants of the PATL2 gene.

【Objective】To investigate the value of medical exome sequencing in copy number variation detection in genetic diseases. 【Methods】 Here we tested two separated cases. There are no similar symptoms except intelligent disability between the cases. Fragile X syndrome，G-banding，chromosome microarray and medical exome sequencing were sequenced tested for the two cases and their parents. 【Results】We found the copy number variants in both of the patients from the two families，which distributed from 11.4 kb to 13.03 Mb in size. The copy number variants were all verified by other technologies. 【Conclusion】 medical exome sequencing is useful for the detection of copy number variation in genetic diseases，although the value still need more verification.