Leroy J G
Pathol Eur. 1976;11(2):99-104.
Antenatal diagnosis of hereditary disease is highly dependent on sufficient theoretical knowledge and on a number of practical methods of studying the foetus such as obtaining, cultivating and assaying amniotic fluid cells. Knowledge of the primary defect in any monogenic disorder cannon be used in prenatal diagnosis unless the metabolic error is expressed in vitro. Modern cytogenetics can diagnose in utero a large majority of karyotyping abnormalities although the karyotype-phenotype correlation is not an absolute one. This task must be assigned to special laboratories where technical pitfalls are reliably avoided. In both metabolic and chromosomal hereditary disease, the pathologist can confirm and extend the phenotypic findings and improve knowledge on foetal features and physiopathology. Pathology is the more important, the less means of in utero diagnosis are available as in the non-chromosomal syndromes of localized or multiple malformations. Here it helps eliminating a present major drawback of prenatal diagnosis: the lack of a strict diagnosis in the previous patient in a family at risk.
遗传性疾病的产前诊断高度依赖于足够的理论知识以及一些研究胎儿的实用方法，比如获取、培养和检测羊水细胞。除非代谢错误能在体外表现出来，否则任何单基因疾病的原发性缺陷知识都无法用于产前诊断。现代细胞遗传学能够在子宫内诊断出绝大多数的染色体核型异常，尽管染色体核型与表型之间的关联并非绝对。这项任务必须交给能够可靠地避免技术陷阱的特殊实验室。在代谢性和染色体遗传性疾病中，病理学家可以确认并扩展表型发现，增进对胎儿特征和生理病理学的了解。在子宫内诊断手段较少的情况下，如局部或多发性畸形的非染色体综合征，病理学就显得更为重要。在此，它有助于消除产前诊断目前的一个主要缺陷：有风险家庭中先前患者缺乏严格的诊断。
