Pierquin G, Dodinval P
J Genet Hum. 1985 Sep;33(3-4):275-81.
From January 1976 to June 1984, 308 necropsies were performed on neonates and fetuses of various gestational age, mainly coming from hospitals of the province of Liege. 41% of the necropsied infants have at least one malformation and 34% of the malformed show multiple birth defects. There were 17 anatomo-clinic diagnoses of chromosomal aberrations but only 12 cases were confirmed by caryotype, for practical or technical reasons. One third of the parents of the necropsied infants came for genetic counselling with a high recurrence risk in 13% of the advices. For further improvement of the possibilities of diagnosis, we are pleading in favour of more frequent radiological and chromosomal fetal examinations. This must lead us to better convince obstetricians and neonatologists and get more favourable practical conditions to carry out the necropsies.
1976年1月至1984年6月，对不同孕周的新生儿和胎儿进行了308例尸检，这些新生儿和胎儿主要来自列日省的医院。41%的尸检婴儿至少有一处畸形，34%的畸形婴儿表现为多发出生缺陷。有17例解剖临床诊断为染色体畸变，但由于实际或技术原因，只有12例通过核型分析得到证实。尸检婴儿的三分之一父母前来进行遗传咨询，其中13%的咨询结果显示复发风险很高。为了进一步提高诊断的可能性，我们主张更频繁地进行胎儿放射学和染色体检查。这必须使我们更好地说服产科医生和新生儿科医生，并获得更有利的实际条件来进行尸检。
