The clinical implementation of sperm chromosome aneuploidy testing: Pitfalls and promises
The clinical implementation of sperm chromosome aneuploidy testing: Pitfalls and promises
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DOI：
10.2164/jandrol.107.003699
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发表时间：
2008-03-01
影响因子：
--
通讯作者：
Carrell, Douglas T.
中科院分区：
文献类型：
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作者：
Carrell, Douglas T.
严重的男性不育已被证明与减数分裂重组不当和精子染色体非整倍体升高有关。精子非整倍体升高会增加胚胎死亡或胎儿畸形的风险。尽管解释非整倍体数据仍然存在困难，但荧光原位杂交（FISH）技术的进步促进了对严重精子发生缺陷患者精子的研究，这表明在患有严重男性因素不育症（如非阻塞性无精子症或严重超微结构缺陷）的男性中评估精子染色体非整倍体是谨慎的。特别是在既往多次体外受精/胞浆内单精子注射（IVF/ICSI）失败的情况下。对于染色体易位和原因不明的反复妊娠丢失的男性，也建议进行检测，对于原因不明的反复IVF失败的患者，检测可能是有益的。自动化FISH成像和分析技术现在可用，有利于减少技术人员分析精子非整倍体的时间。新兴技术，如比较基因组杂交，可能有助于进一步提高非整倍体分析所得数据的质量，并降低分析成本。
Severe male infertility has been shown to be associated with improper meiotic recombination and elevated sperm chromosome aneuploidy. Elevated sperm aneuploidy increases the risk of embryo lethality or fetal anomalies. Although difficulties in interpreting aneuploidy data still exist, advances in fluorescent in situ hybridization (FISH) technology have facilitated the study of sperm from patients with severe spermatogenesis defects, which has demonstrated the prudence of evaluating sperm chromosome aneuploidy in men with severe male factor infertility, such as nonobstructive azoospermia or severe ultrastructure defects, especially in cases of previous repeated in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) failure. Testing is also advisable in men with chromosome translocations and unexplained recurrent pregnancy loss, and it may be beneficial in patients with unexplained, repeated IVF failure. Automated FISH imaging and analysis technology is now available and is beneficial in reducing technician time analyzing sperm aneuploidy. Emerging technologies, such comparative genomic hybridization, may be beneficial in further improving the quality of data derived from aneuploidy analysis and reducing the cost of the assay.