Lin Chen-Ju, Chen Chih-Ping, Chien Shu-Chin, Lee Chen-Chi, Town Dai-Dyi, Chen Wen-Lin, Chen Li-Feng, Lee Meng-Shan, Pan Chen-Wen, Lin Ku-Chien, Yeh Tze-Tien
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, National Yang-Ming University, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2014 Mar;53(1):62-7. doi: 10.1016/j.tjog.2013.02.003.
The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis.
We reviewed all the cases with chromosomal deletions, which were detected by amniocentesis in Mackay Memorial Hospital, Taipei, Taiwan, between January 1987 and December 2012. Data on the locations and types of deletion, reasons for performing amniocentesis, maternal age, gestational age at amniocentesis, fetal karyotypes, inheritance of deletions, and relative prenatal findings were collected.
Amniocentesis was performed in 33,305 cases within this period of time. Among these, 31 cases of chromosomal deletions were considered for the study. The mean gestational age at amniocentesis was 21.0 weeks (range from 15 weeks to 32 weeks) and the mean maternal age at amniocentesis was 32.1 years (range from 26 years to 37 years). Nineteen cases (61.3%) manifested fetal structural abnormalities on ultrasound, nine (29.0%) presented no ultrasound abnormalities, and three had an unknown status. The main modes of ascertainment included abnormal ultrasound findings in 10 cases (32.2%), advanced maternal age in 11 cases (35.5%), abnormal maternal serum screening results in six cases (19.6%), and other reasons in four cases (13.0%). Of the 27 cases with known inheritance, the deletion was inherited in two (6.6%) and de novo in 25 (92.6%). Males accounted for 11 (35.5%) and females for 20 (64.5%) cases. Chromosomal deletions are more often to occur in chromosomal 5(4 cases, 12.9%), chromosomal 18 (4 cases, 12.9%), chromosomal 4 (3 cases, 9.7%), chromosomal 7 (3 cases, 9.7%), chromosomal 10 (3 cases, 9.7%), chromosomal 11 (3 cases, 9.7%), and chromosomal 1 (2 cases, 6.5%). There were four cases of chromosomal mosaicism: two involved chromosome 5, one involved chromosome 10, and one involved chromosome 18. Twenty-three cases (74.2%) had terminal deletions and the other eight cases (26.7%) had interstitial-type deletions.
In summary, we have presented the results of prenatal diagnosis for chromosomal deletions using amniocentesis. Chromosomal deletions are more likely to occur in females and more often in chromosomal 5p and 18q. Prenatal diagnosis at amniocentesis is frequently associated with advanced maternal age, abnormal ultrasound findings, and abnormal maternal serum screening. The frequency of ascertainment in chromosome deletion seems to be directly correlated with advanced maternal age and abnormal ultrasound findings. In cases with terminal deletions, prenatal ultrasound plays a more important role for prenatal diagnosis.
本研究旨在呈现羊膜腔穿刺术中检测到的染色体缺失的发生率、产前和产后发现以及确诊方式。
我们回顾了1987年1月至2012年12月期间在台湾台北市马偕纪念医院通过羊膜腔穿刺术检测到的所有染色体缺失病例。收集了关于缺失的位置和类型、进行羊膜腔穿刺术的原因、产妇年龄、羊膜腔穿刺术时的孕周、胎儿核型、缺失的遗传方式以及相关产前发现的数据。
在此期间共进行了33305例羊膜腔穿刺术。其中，31例染色体缺失病例纳入本研究。羊膜腔穿刺术时的平均孕周为21.0周（范围为15周至32周），羊膜腔穿刺术时的平均产妇年龄为32.1岁（范围为26岁至37岁）。19例（61.3%）超声检查显示胎儿结构异常，9例（29.0%）未显示超声异常，3例情况不明。主要确诊方式包括10例（32.2%）超声检查异常、11例（35.5%）产妇年龄偏大、6例（19.6%）产妇血清筛查结果异常以及4例（13.0%）其他原因。在27例已知遗传方式的病例中，2例（6.6%）缺失为遗传所得，25例（92.6%）为新发。男性病例11例（35.5%），女性病例20例（64.5%）。染色体缺失更常发生在5号染色体（4例，12.9%）、18号染色体（4例，12.9%）、4号染色体（3例，9.7%）、7号染色体（3例，9.7%）、10号染色体（3例，9.7%）、11号染色体（3例，9.7%）和1号染色体（2例，6.5%）。有4例染色体嵌合体：2例涉及5号染色体，1例涉及10号染色体，1例涉及18号染色体。23例（74.2%）为末端缺失，另外8例（26.7%）为中间型缺失。
总之，我们呈现了使用羊膜腔穿刺术进行染色体缺失产前诊断的结果。染色体缺失在女性中更易发生，且更常出现在5号染色体短臂和18号染色体长臂。羊膜腔穿刺术的产前诊断常与产妇年龄偏大、超声检查异常和产妇血清筛查异常相关。染色体缺失的确诊频率似乎与产妇年龄偏大和超声检查异常直接相关。在末端缺失的病例中，产前超声在产前诊断中发挥着更重要的作用。
