Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
Taiwan J Obstet Gynecol. 2010 Dec;49(4):455-67. doi: 10.1016/S1028-4559(10)60098-8.
To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis.
Between January 1987 and August 2010, 82 cases with a simple reciprocal translocation, two cases with two separate simple reciprocal translocations and three cases with a complex chromosome rearrangement (CCR) were diagnosed by amniocentesis at Mackay Memorial Hospital, Taipei, Taiwan. The 87 cases originated from 76 families; 65 families with one case and 11 families with two cases.
In the 76 families, the main modes of ascertainment included advanced maternal age (n=38), a previous child with an unbalanced reciprocal translocation (n=11), recurrent miscarriage (n = 9), abnormal maternal serum screening results (n = 9), elective causes (n = 5), a previous child with congenital anomalies (n =2) and abnormal ultrasound findings (n = 2). In these families, there were 17 (22.4%) de novo cases including 14 simple translocations and three CCRs. Of 14 de novo cases with a simple translocation, one (7.1%) manifested a congenital malformation, which was related to an X-autosome translocation, and four (28.6%) were terminated. Of three de novo CCRs, two manifested congenital anomalies and one was terminated. In 87 cases, additional aneuploidy was noted in two cases including one inherited simple translocation with Turner syndrome, and one de novo CCR with concomitant deletions and duplication.
Balanced reciprocal translocations detected at amniocentesis may be associated with fetal anomalies in cases of concomitant aneuploidy, de novo X-autosome translocation or de novo CCR. Genetic counseling of a de novo simple reciprocal translocation at amniocentesis remains difficult because approximately one-fourth of the parents opt for termination of the pregnancy, and detailed ultrasonography and array comparative genomic hybridization are helpful for parental counseling under such circumstances.
介绍在羊膜穿刺术检测到的平衡相互易位中的围产期发现、确定方式和父母决策。
1987 年 1 月至 2010 年 8 月期间，在台北马偕纪念医院通过羊膜穿刺术诊断了 82 例单纯相互易位、2 例单独的单纯相互易位和 3 例复杂染色体重排（CCR）。这 87 例病例来自 76 个家庭；65 个家庭有 1 例，11 个家庭有 2 例。
在这 76 个家庭中，主要的发现方式包括高龄产妇（n=38）、前一胎有不平衡相互易位（n=11）、反复流产（n=9）、母体血清筛查异常（n=9）、选择性原因（n=5）、前一胎有先天异常（n=2）和超声异常（n=2）。在这些家庭中，有 17 例（22.4%）是新发病例，包括 14 例单纯易位和 3 例 CCR。在 14 例新发单纯易位病例中，有 1 例（7.1%）表现出先天性畸形，与 X 染色体易位有关，4 例（28.6%）被终止妊娠。在 3 例新发 CCR 中，有 2 例表现出先天性异常，1 例被终止妊娠。在 87 例病例中，有 2 例还发现了额外的非整倍体，包括 1 例遗传性单纯易位伴特纳综合征和 1 例新发 CCR 伴有缺失和重复。
在伴有非整倍体、新发 X-染色体易位或新发 CCR 的情况下，羊膜穿刺术检测到的平衡相互易位可能与胎儿畸形有关。对于羊膜穿刺术检测到的新发单纯相互易位的遗传咨询仍然很困难，因为大约四分之一的父母选择终止妊娠，在这种情况下，详细的超声检查和 array 比较基因组杂交有助于为父母提供咨询。
