中文摘要：

目的：观察无精子症和严重少／弱精子症患者借助卵胞质内单精子注射（ICSI）技术出生的子代与其他精子ICSI／体外受精（IVF）子代的出生缺陷情况。方法：将接受ICSI／IVF治疗的237对夫妇生育的300例子代按ICSI／IVF当日精液情况和受精方式分为附睾／睾丸精子ICSI组（A组，患者92例，子代118例）、严重少／弱精子ICSI组（B组，患者84例，子代106例）、非严重少／弱／畸形精子ICSI组（c组，患者35例，子代42例）、正常精子IVF组（D组，患者26例，子代34例）。对召回现场随访的子代进行出生缺陷病史询问、超声检查和无精子症因子（AZF）基因检测。结果：受访子代平均年龄为33．1±20．3（4-84）个月，新生儿出生缺陷率为1．7％（5／300），总出生缺陷率为4．7％（14／300），4组的出生缺陷率分别为5．1％（6／118）、3．8％（4／106）、2．4％（1／42）和8．8％（3／34），组间无统计学差异（P〉0．05）。112个家庭AZF基因检测显示B组有3对父子存在同样位点的AZF基因微缺失。结论：无精子症和严重少／弱精子症等严重男性不育症患者ICSI子代的出生缺陷发生率与其他较好精子或正常精子IVF子代相比无明显增加，AZF基因检测没有新增缺失位点和新增缺失病例。

英文摘要：

Objective： To evaluate the incidence of congenital defects from severe oligoasthenoterato-zoospermia and azoospermia patients＇ offspring. Methods： Totally 300 offsprings from 237 infertile couples treated by intracytomic plasma sperm injection/in vitro fertilization （ICSI/IVF） accepted face-to-face followed up and physical examination. All 300 children were retrospectively divided into 4 groups according to the stratification of their fathers＇ sperm used for ICSI or IVF. Group A： epididymal or testicular sperm used for ICSI （including 118 children from 92 couples）; group B： sperm from severe oligoasthenoteratozoospermia for ICSI （including 106 children from 84 couples）; group C： other cases undergone ICSI （including 42 children from 35 couples）; group D： normal sperm used for IVF （including 34 children from 26 couples）. Results： All children aged 33.1 ± 20.3 （4-84） months. The incidence of newborn congenital defects was 1.7% （5/300） and total congenital defects was 4.3% （13/300）. No significant difference was found among four groups regarding to the incidence of congenital defects [4.2% （5/118）, 3.8% （4/106）, 2.4% （1/42） and 8.8% （3/34）]. Only 3 pairs of father and son from group B were found sharing the same congenital defect--azoospermia factor （AZF） microdeletion. Conclusion： Incidence of congenital defects as well as AZF microdeletion in offsprings of ICSI using spermatozoa from severe oligoasthenoteratozoospermia or azoospermia are comparable to those showing better sperm quality.