Peng Hsiu-Huei, Chao An-Shine, Wang Tzu-Hao, Chang Yao-Lung, Chang Shuenn-Dyh
Department of Obstetrics and Gynecology and Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Lin-ko Medical Center, Chang Gung University College of Medicine, Tao-Yuan, Taiwan, ROC.
J Reprod Med. 2006 Sep;51(9):699-703.
To investigate the incidence and pregnancy outcome of prenatally diagnosed balanced chromosome rearrangements from amniocentesis.
Between January 1996 and December 2003, we collected cases with balanced chromosome rearrangements from amniocentesis specimens submitted to our cytogenetics laboratory for fetal karyotyping. Data on maternal age, indication for amniocentesis, detailed anatomic sonographic findings, gestational age at delivery, newborn birth weight and infant anomalies, if any, were obtained by chart review.
A total of 66 cases of balanced chromosomal translocations or inversions were identified from the 12,468 amniocentesis specimens. Specifically, 0.256% had a reciprocal translocation, 0.080% had a Robertsonian translocation, and 0.192% had an inversion. The incidences of de novo reciprocal translocations, Robertsonian translocations and inversions were 0.080%, 0.016% and 0.024%, respectively. Abnormal prenatal sonographic findings occurred in 2 cases, 1 in an inherited case and 1 in a de novo case. Abnormal postnatal findings occurred in 5 cases, 3 in inherited cases and 2 in de novo cases. Excluding the cases with minor congenital anomalies, the major congenital anomaly rates of inherited and de novo chromosome rearrangements were 1.96% and 6.66%, respectively.
The incidences of prenatally diagnosed de novo reciprocal translocations, de novo Robertsonian translocations and de novo inversions were higher than those reported in previous, larger series. The major congenital anomaly rates for inherited and de novo chromosome rearrangements were higher than the 1.4% congenital anomaly rate in our general population. Consequently, detailed ultrasound examination and parental karyotyping should be viewed as essential measures in dealing with prenatally diagnosed balanced chromosome rearrangements.
研究经羊膜腔穿刺产前诊断的平衡染色体重排的发生率及妊娠结局。
1996年1月至2003年12月期间，我们从提交至本细胞遗传学实验室进行胎儿核型分析的羊膜腔穿刺标本中收集了平衡染色体重排的病例。通过查阅病历获取产妇年龄、羊膜腔穿刺指征、详细的超声解剖学检查结果、分娩时的孕周、新生儿出生体重以及婴儿是否存在异常等数据。
在12468例羊膜腔穿刺标本中，共鉴定出66例平衡染色体易位或倒位。具体而言，相互易位的发生率为0.256%，罗伯逊易位的发生率为0.080%，倒位的发生率为0.192%。新发相互易位、罗伯逊易位和倒位的发生率分别为0.080%、0.016%和0.024%。产前超声检查异常的有2例，1例为遗传病例，1例为新发病例。产后异常发现5例，3例为遗传病例，2例为新发病例。排除轻度先天性异常病例后，遗传和新发染色体重排的主要先天性异常率分别为1.96%和6.66%。
产前诊断的新发相互易位、新发罗伯逊易位和新发倒位的发生率高于以往更大规模系列报道的发生率。遗传和新发染色体重排的主要先天性异常率高于我们普通人群1.4%的先天性异常率。因此，详细的超声检查和父母核型分析应被视为处理产前诊断的平衡染色体重排的必要措施。
