:

Mengting Jiang1,2, Bin Zhang1, Jing Wang1

  • 1Department of Medical Genetics, Changzhou Maternal and Child Health Care Hospital, Changzhou Medical Center of Nanjing Medical University, Changzhou, Jiangsu, China.

概括

使用染色体微阵列分析 (CMA),然后进行全外体序列测序 (WES),对骨发育不良 (SD) 的产前诊断显著提高了检测率. 这种顺序方法对于识别胎儿SD的遗传原因至关重要.