先天性缺陷乃是造成新生兒及嬰兒死亡原因的第二位。傳統中,欲診斷胎兒是否潛藏染色體遺傳疾病,必須在懷孕早期(11-13週)、中期(16-18週)利用產前遺傳診斷技術診斷;現在,隨著人類基因圖譜(Human Genome Map, HGM)的公佈及分子生物科技的進展,已可藉由聚合酶連鎖反應(polymerase chain reaction, PCR)或螢光原位雜交術(fluorescence in situ hybridization, FISH)等方式,避免生下缺陷之嬰兒。綜觀文獻發表,著床前胚胎遺傳診斷可應用於單基因遺傳疾病與染色體異常的預防,但其所衍生的倫理爭議,亦值得我們深思與反省!希望透過本文之介紹,讓護理界同仁對此新技術有進一步之認識。
Congenital anomaly is the secondary leading cause of death in newborn infants. Traditionally, the diagnosis of fetus with hidden chromosomal abnormalities can be made by prenatal technology in early pregnancy (11-13 weeks) or middle pregnancy (16-18 weeks). Although the techniques of Human Genome Map promulgation in molecular biology has improved diagnostic accuracy, to date, polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) can promote reproductive confidence and avoid delivering morbid babies. According to the related literature, preimplantation genetic diagnosis (PGD) can be applied for prevention of monogenetic disorders and chromosomal abnormalities. However, the ethical impacts of PGD should also be considered. Therefore, nurses should obtain more knowledge and training about this novel technology.