Tournier G, Goossens M, Bessis R, Doumerc S, Guis F, Couvreur J
Service de Pédiatrie et Pneumologie de l'Enfant, Hôpital Trousseau, Paris.
Rev Mal Respir. 1988;5(3):231-8.
Currently two genetic pulmonary disorders can be diagnosed before birth: alpha-1-antitrypsin deficiency and mucoviscidosis. For the latter there are two possible diagnostic techniques: first a study of the intestinal enzymes of the amniotic fluid, a reliable method only at the 18th week, and also a study of DNA markers (ADN) of the trophoblastic cells using molecular biological techniques: this can be performed from the 10th to 11th week of pregnancy but presupposes a family study in which there is already a subject suffering from the disorder. Foetal echocardiography enables various pulmonary abnormalities to be detected: pleural effusion, cyst, pulmonary hypoplasia and other disorders. This technique however has some limits, at least at present. Most often these severe malformations are revealed at birth such as respiratory distress or stillbirth. Adenomatous cystic malformations or congenital lobar emphysema, a posterior diaphragmatic hernia, and oesophageal atresia with oesophagotracheal fistula are the most frequent and are curable surgically.
目前，两种遗传性肺部疾病可在出生前被诊断出来：α-1抗胰蛋白酶缺乏症和黏液黏稠症。对于后者，有两种可能的诊断技术：一是研究羊水的肠道酶，这是一种仅在孕18周时可靠的方法；另一种是使用分子生物学技术研究滋养层细胞的DNA标记（ADN）：这可以在怀孕第10至11周进行，但前提是已有该疾病患者的家族研究。胎儿超声心动图能够检测出各种肺部异常：胸腔积液、囊肿、肺发育不全和其他病症。然而，这项技术至少目前存在一些局限性。这些严重畸形大多在出生时被发现，如呼吸窘迫或死产。腺瘤样囊性畸形或先天性大叶性肺气肿、后位膈疝以及食管闭锁合并食管气管瘘最为常见，且可通过手术治愈。
