原发性和继发性不孕夫妇的染色体异常：辅助生殖技术（ART）的遗传咨询
Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART).
作者信息
Poornima Subhadra, Daram Swarnalatha, Devaki Rama Krishna, Qurratulain Hasan
机构信息
Department of Genetics and Molecular Medicine, Kamineni Life Sciences, Moulali, Hyderabad, India.
Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
出版信息
J Reprod Infertil. 2020 Oct-Dec;21(4):269-274. doi: 10.18502/jri.v21i4.4331.
BACKGROUND
World Health Organization estimates that 60-80 million couple worldwide currently suffer from infertility. Recurrent pregnancy loss (RPL) is also another major concern. Chromosomal rearrangements play a crucial role in primary and secondary infertility and RPL. Underlying genetic abnormalities like chromosomal abnormalities contribute to 5-10% of the reproductive failures. The aim of the study was to evaluate the chromosomal abnormalities in infertility and RPL cases to help obstetrician/fertility experts to carry out risk assessment and provide appropriate assisted reproductive techniques for better management of the problem.
METHODS
Karyotyping was performed for 414 cases with the history of infertility and RPL over a period of one year. Samples were processed according to procedures of AGT cytogenetic laboratory manual.
RESULTS
Chromosomal abnormalities were observed in 15% of cases. Robertsonian translocation, reciprocal translocation, inversion, derivatives, marker chromosomes, mosaics, aneuploidy and polymorphic variants each contributed 2%, 3%, 3%, 13%, 2%, 10%, 6% and 61%, respectively.
CONCLUSION
Evaluation of chromosomal abnormalities in couple is warranted prior to planning pregnancy especially for assisted reproductive management cases. Chromosomal analysis can be used as one of the diagnostic tools by OBG/IVF specialists in association with geneticist/genetic counselor for proper reproductive counseling and management.
背景
世界卫生组织估计，目前全球有6000万至8000万对夫妇患有不孕症。复发性流产（RPL）也是另一个主要问题。染色体重排在原发性和继发性不孕症以及复发性流产中起着关键作用。像染色体异常这样的潜在遗传异常导致5%至10%的生殖失败。本研究的目的是评估不孕症和复发性流产病例中的染色体异常情况，以帮助产科医生/生殖专家进行风险评估，并提供适当的辅助生殖技术，以便更好地处理该问题。
方法
在一年时间内，对414例有不孕症和复发性流产病史的患者进行了核型分析。样本按照AGT细胞遗传学实验室手册的程序进行处理。
结果
15%的病例观察到染色体异常。罗伯逊易位、相互易位、倒位、衍生染色体、标记染色体、嵌合体、非整倍体和多态性变异分别占2%、3%、3%、13%、2%、10%、6%和61%。
结论
在计划怀孕前，尤其是辅助生殖管理病例中，对夫妇进行染色体异常评估是必要的。染色体分析可作为妇产科/试管婴儿专家与遗传学家/遗传咨询师联合使用的诊断工具之一，用于适当的生殖咨询和管理。
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