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随着基因芯片等分子诊断技术的发展,诸如先天性耳聋、地中海贫血等多数遗传缺陷疾病能够做到可防可控。然而,这些新技术受制于政策法规滞后、市场准入和认识等方面的挑战,目前还未能实现在临床上的大规模使用。在沈阳202医院,一对听力正常的夫妇带着未满月的宝宝就诊,原因是宝宝出生后3天进行的听力筛查没有通过。医生对孩子开具了耳聋基因芯片的检测单,结果显示孩子GJB2
With the development of molecular diagnostic techniques such as gene chips, most genetic defects such as congenital deafness and thalassemia can be prevented and controlled. However, these new technologies are subject to the challenges of lagging policies and regulations, market access and understanding, and so far they have not been able to achieve large-scale clinical use. At Shenyang 202 Hospital, a hearing-impaired couple took their baby under full moon because the baby’s hearing screening failed 3 days after birth. Doctors issued a single deafness gene chip test for children, the results showed that children GJB2