Reproductive outcome and fetal karyotype of couples with recurrent miscarriages.
Reproductive outcome and fetal karyotype of couples with recurrent miscarriages.
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DOI：
10.12891/ceog15912014
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发表时间：
2014-06
影响因子：
0.2
通讯作者：
S. Zhang;L. Gao;Y. Liu;J. Tan;Y. Wang;R. Zhang;H. Chen;J. Zhang
中科院分区：
文献类型：
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作者：
S. Zhang;L. Gao;Y. Liu;J. Tan;Y. Wang;R. Zhang;H. Chen;J. Zhang
目的探讨复发性流产患者胎儿染色体核型与双亲染色体异常的关系及其对远期生殖结局的影响。材料与方法对34对核型异常合并红斑狼疮夫妇的生殖结局进行调查。在妊娠期间进行超声检查，在流产后测定胎儿核型，并记录成功的妊娠结局。结果34对夫妇中有20对出现染色体异常，女性9例，男性11例(45%vs55%，P=0.2833)。15对夫妇(44.1%)存在核型多态，其中男性最常见的变异是长Y染色体。后续妊娠的生殖结局包括25例表型正常的活产婴儿(73.5%)，1例多发性畸形婴儿(2.9%)，8例RM(23.6%)。在核型方面，69.2%(9/13)的夫妇存在倒位，73.3%(11/15)的夫妇存在导致表型正常婴儿存活的核型多态。29例进行了胎儿染色体核型分析。正常核型占48.3%(14/29)，核型异常占41.4%(12/29)，核型多态占10.3%(3/29)。结论染色体异常与自然流产呈正相关。应对再次妊娠期间有反复流产史的夫妇(S)进行全面评估和特殊治疗，特别是当其中一方是染色体异常(即9号染色体倒置和男性长Y染色体)携带者时。对于两次以上流产的携带者夫妇来说，产前诊断是必要的。
PURPOSE The purpose of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and assess the long-term reproductive outcomes in couples with recurrent miscarriages (RM). MATERIALS AND METHODS The reproductive outcomes of 34 couples with abnormal karyotypes and RM were investigated. Ultrasound examinations were performed during pregnancy, fetal karyotypes were determined following miscarriages, and successful pregnancy outcomes were recorded. RESULTS Of the 34 couples, 20 individuals presented with chromosomal abnormalities, specifically in nine females and 11 males (45% vs 55%, chi2 = 0.2833,p > 0.05). Fifteen couples (44.1%) possessed karyotype polymorphisms, of which the most common variant was a long Y chromosome in males. The reproductive outcomes of subsequent pregnancies consisted of 25 live births of phenotypically normal infants (73.5%), one infant with multiple malformations (2.9%), and eight RM (23.6%). With regards to karyotypes, 69.2% (9/13) of couples had inversions and 73.3% (11/15) had karyotype polymorphisms that resulted in live births of phenotypically normal babies. Fetal karyotyping was performed in a total of 29 cases. Normal karyotypes were present in 48.3% (14/29) of cases, whereas 41.4% (12/29) had abnormalities (either numerical or structural), and 10.3% (3/29) has a karyotype polymorphism. CONCLUSIONS There is a positive correlation between chromosomal abnormalities and spontaneous miscarriages. A complete evaluation and special treatment should be provided to couples with a history of recurrent miscarriage(s) during a subsequent pregnancy, particularly when one partner is a carrier of chromosome abnormalities (i.e., inversions of chromosome 9 and long Y chromosome in males). Prenatal diagnosis is necessary in carrier couples suffering from more than two miscarriages.