Fortuny A, Carrio A, Soler A, Cararach J, Fuster J, Salami C
Department of Obstetrics and Gynecology, University of Barcelona Medical School, Hospital Clinico, Spain.
Fertil Steril. 1988 May;49(5):774-9. doi: 10.1016/s0015-0282(16)59882-3.
Cytogenetic studies were performed in 445 couples presenting because of repetitive abortion. The authors detected a balanced translocation in 19 (4.2%) of the couples, pericentric inversions in 8 (1.8%), and polymorphisms in 52 (11.4%). The results were compared with those obtained in a series of 600 consecutive normal liveborns. Significantly higher frequencies for translocations and polymorphisms were present in couples with repetitive abortion. No sex predominance in translocation carriers was observed, and reciprocal translocations were more common (16 of 19) than the robertsonian type (3 of 19). Contrary to other reports, all of the translocations and inversions were detected among couples without previous abnormal offspring. Cytogenetic prenatal testing in 17 pregnancies from a carrier parent showed that none of the fetuses had the unbalanced karyotype, 13 carried the balanced rearrangement, and 4 had a normal karyotype. Although a risk profile can be obtained for these couples, prenatal testing must be offered to avoid anxiety and unjustified pregnancy interruptions.
对445对因反复流产前来就诊的夫妇进行了细胞遗传学研究。作者在19对（4.2%）夫妇中检测到平衡易位，8对（1.8%）检测到臂间倒位，52对（11.4%）检测到多态性。将结果与一系列600例连续正常活产儿的结果进行了比较。反复流产夫妇中易位和多态性的频率显著更高。在易位携带者中未观察到性别优势，相互易位（19例中的16例）比罗伯逊易位（19例中的3例）更常见。与其他报告相反，所有易位和倒位均在无先前异常后代的夫妇中检测到。对来自携带亲本的17例妊娠进行的细胞遗传学产前检测显示，没有胎儿具有不平衡核型，13例携带平衡重排，4例具有正常核型。虽然可以为这些夫妇获得风险概况，但必须提供产前检测以避免焦虑和不合理的妊娠中断。
