Poenaru L
Laboratoire de Biochimie Génétique, CHU Cochin, Paris.
Ann Biol Clin (Paris). 1988;46(7):451-3.
Prenatal diagnosis currently represents the only preventive method of inherited metabolic disease for which no effective treatment is available. Several fetal samplings are currently possible, which enables to adequately select the best expression of the anomaly. Chorionic villi taken by biopsy constitute the biological material of choice for a diagnosis during the first trimester of pregnancy. An early diagnosis with the marked heterogenous nature of these genetic diseases, requires a perfect cooperation between the various specialists and between specialists and family, in order to secure a prenatal diagnosis.
目前，产前诊断是遗传性代谢疾病唯一的预防方法，因为针对这类疾病尚无有效的治疗手段。目前有几种获取胎儿样本的方法，这使得能够充分选择异常情况的最佳表现形式。通过活检获取的绒毛膜绒毛是孕早期诊断的首选生物材料。由于这些遗传疾病具有显著的异质性，要进行早期诊断，就需要各专科医生之间以及专科医生与家庭之间密切合作，以确保进行产前诊断。
