Miao Zhengyou, Liu Xia, Hu Furong, Zhang Ming, Yang Pingli, Wang Luming
1Center of Prenatal Diagnosis, The Maternity and Child Health Care Hospital Affiliated to Jiaxing University, Jiaxing, 314050 Zhejiang Province People's Republic of China.
2Center Laboratory Medicine, The First Affiliated Hospital of Jiaxing University, Jiaxing, 314001 Zhejiang Province People's Republic of China.
Mol Cytogenet. 2019 Feb 22;12:9. doi: 10.1186/s13039-019-0416-6. eCollection 2019.
This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old.
The primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation.
We examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65-0.76, < 0.001).
Our results indicate that the combined use of BoBs™ and conventional karyotyping detected more fetal abnormalities than either test alone.
本研究评估了孕珠上细菌人工染色体（BAC）检测法（BoBs™检测法）与传统核型分析技术对35岁及以上孕妇产前染色体异常的单独及联合诊断效能。
主要观察指标是对孕17至22周孕妇羊水标本进行BoBs™检测法和传统核型分析时，在任何数目、结构或亚微观染色体异常方面的一致性。
我们检测了4852例孕妇的样本。BoBs™检测法显示，4708例样本正常（97.03%），144例异常（2.97%）；传统核型分析显示，4656例（95.96%）样本正常，196例（4.04%）异常。两种方法联合使用显示，4852例样本中有4633例正常（95.49%），4852例样本中有219例（4.51%）异常。联合检测的kappa系数为0.70，表明BoBs™检测法与传统核型分析之间具有高度一致性（95%CI = 0.65 - 0.76，P < 0.001）。
我们的结果表明，BoBs™检测法与传统核型分析联合使用比单独使用任何一种检测方法能检测出更多胎儿异常情况。
