MAGI EUREGIO, Bolzano, Italy.
MAGI'S LAB.
Acta Biomed. 2020 Nov 9;91(13-S):e2020021. doi: 10.23750/abm.v91i13-S.10534.
Fetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies.
Through a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions.
Next generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery.
Prenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.
胎儿异常导致 20%的围产儿死亡。产前遗传和其他类型的筛查技术的进步为识别高危妊娠提供了极好的机会。
通过文献检索，我们在这里总结了目前正在使用的产前诊断技术，以及这些技术如何能够进行产前干预。
下一代测序和无创性产前检测因其在分别识别点突变、非整倍体和微缺失方面的敏感性和准确性，是临床诊断的基础。及时识别遗传疾病和其他胎儿异常可以实现早期干预，如宫内基因治疗、胎儿药物治疗和产前手术。
产前干预主要针对可能导致死亡或终身残疾的情况，如脊柱裂、先天性膈疝和骶尾部畸胎瘤；并可能成为终止妊娠的替代治疗选择。然而，由于缺乏专业中心，它还没有得到广泛应用。
