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妊娠胎儿丢失，包括反复流产（自然流产２次以上）及死、畸胎的夫妇是遗传咨询门诊的最主要的就诊者。染色体异常是导致妊娠胎儿丢失的重要的细胞遗传学因素。本文对４４７对妊娠胎儿丢失夫妇的外周血染色体进行分析，检出异常核型２６例，异常率为２９％。其中平衡易位１７例，性染色体嵌合体５例，超雌３例，２１三体１例。并对染色体异常、大Ｙ染色体及９号染色体臂间倒位与妊娠胎儿丢失的关系进行了分析。
Gestational fetal loss, including recurrent miscarriage (more than 2 times of spontaneous abortion) and death, teratogenic couples are the most important referral clinic clinic. Chromosomal abnormalities are an important cytogenetical factor in the loss of a fetus during pregnancy. In this paper, we analyzed the peripheral blood chromosomes of 447 pairs of fetus lost in pregnancy, detected 26 cases of abnormal karyotype, the abnormal rate was 2.9%. Of which 17 cases of balanced translocation, 5 cases of sex chromosome chimerism, super-female 3 cases, 21 trisomy in 1 case. The relationship between chromosomal abnormalities, large Y chromosomes and internodal alignment on chromosome 9 and fetal loss during pregnancy was analyzed.