Leung W C, Lau E T, Lau W L, Tang Rebecca, Wong Shell Fean, Lau T K, Tse K T, Wong S F, To W K, Ng Lucy K L, Lao T T, Tang Mary H Y
Kwong Wah Hospital.
Hong Kong Med J. 2008 Feb;14(1):6-13.
The application of rapid aneuploidy testing as a stand-alone approach in prenatal diagnosis is much debated. The major criticism of this targeted approach is that it will not detect other chromosomal abnormalities that will be picked up by traditional karyotyping. This study aimed to study the nature of such chromosomal abnormalities and whether parents would choose to terminate affected pregnancies.
Retrospective study on a cytogenetic database.
Eight public hospitals in Hong Kong.
The karyotype results of 19 517 amniotic fluid cultures performed for advanced maternal age (>or=35 years) from 1997 to 2002 were classified according to whether they were detectable by rapid aneuploidy testing. The outcomes of pregnancies with abnormal karyotypes were reviewed from patient records.
In all, 333 (1.7%) amniotic fluid cultures yielded abnormal karyotypes; 175 (52.6%) of these were detected by rapid aneuploidy testing, and included trisomy 21 (n=94, 28.2%), trisomy 18 or 13 (n=21, 6.3%), and sex chromosome abnormalities (n=60, 18.0%). The other 158 (47.4%) chromosomal abnormalities were not detectable by rapid aneuploidy testing, of which 63 (18.9%) were regarded to be of potential clinical significance and 95 (28.5%) of no clinical significance. Pregnancy outcomes in 327/333 (98.2%) of these patients were retrieved. In total, 143 (42.9%) of these pregnancies were terminated: 93/94 (98.9%) for trisomy 21, 20/21 (95.2%) for trisomy 18 or 13, 19/60 (31.7%) for sex chromosome abnormalities, and 11/63 (17.5%) for other chromosomal abnormalities with potential clinical significance. There were no terminations in the 95 pregnancies in which karyotyping results were regarded to be of no clinical significance.
'Knowing less' by the rapid aneuploidy stand-alone testing could miss about half of all chromosomal abnormalities detectable by amniocentesis performed for advanced maternal age. Findings from two fifths of the latter were of potential clinical significance, and the parents chose to terminate one out of six of the corresponding pregnancies. If both techniques are available, parents could have enhanced autonomy to choose.
快速非整倍体检测作为一种独立的方法应用于产前诊断备受争议。对这种靶向检测方法的主要批评是它无法检测出传统核型分析能发现的其他染色体异常。本研究旨在探究此类染色体异常的性质以及父母是否会选择终止受影响的妊娠。
对一个细胞遗传学数据库进行回顾性研究。
香港的八家公立医院。
将1997年至2002年因孕妇年龄偏大（≥35岁）进行的19517例羊水培养的核型结果，根据是否能通过快速非整倍体检测进行分类。从患者记录中回顾核型异常妊娠的结局。
总共333例（1.7%）羊水培养得出核型异常；其中175例（52.6%）可通过快速非整倍体检测发现，包括21三体（n = 94，28.2%）、18或13三体（n = 21，6.3%）以及性染色体异常（n = 60，18.0%）。另外158例（47.4%）染色体异常无法通过快速非整倍体检测发现，其中63例（18.9%）被认为具有潜在临床意义，95例（28.5%）无临床意义。检索到了这些患者中327/333例（98.2%）的妊娠结局。总共143例（42.9%）妊娠被终止：21三体妊娠中93/94例（98.9%）、18或13三体妊娠中20/21例（95.2%）、性染色体异常妊娠中19/60例（31.7%），以及具有潜在临床意义的其他染色体异常妊娠中11/63例（17.5%）。95例核型结果被认为无临床意义的妊娠均未被终止。
单独采用快速非整倍体检测“了解更少”，可能会遗漏因孕妇年龄偏大进行羊膜腔穿刺所能检测出的所有染色体异常的一半左右。后者五分之二的结果具有潜在临床意义，父母选择终止了相应妊娠中的六分之一。如果两种技术都可用，父母可以有更大的自主选择权。
