Gillerot Y, Koulischer L, Hustin J
J Genet Hum. 1982 Jun;30(2):135-50.
Congenital anomalies or malformations have now become the principal cause of neonatal deaths, as confirmed by the present study of 350 consecutive autopsies studied from 1977 to 1981. The overall incidence of congenital malformations for the whole period considered was of 36.8%. However, during this short four-year lapse of time, a steady increase from 26.8% in 1977 to 48.1% in 1981 could be noticed. This increase is concomitant to the decrease of the "classical" causes of neonatal deaths, namely prematurity sequellae and intrapartal death. Indeed, many different entities have been identified; it seems interesting to point out, however, the relatively great number of autosomal recessive diseases found in the present series. For a full genetic profit, neonatal autopsy should be complete and systematically followed by genetic counseling.
先天性异常或畸形现已成为新生儿死亡的主要原因，1977年至1981年对350例连续尸检的研究证实了这一点。在所考虑的整个时期内，先天性畸形的总体发生率为36.8%。然而，在这短短四年的时间里，可以注意到从1977年的26.8%稳步上升到1981年的48.1%。这种上升与新生儿死亡的“经典”原因的减少相伴，即早产后遗症和分娩期死亡。事实上，已经确定了许多不同的类型；然而，指出本系列中发现的常染色体隐性疾病数量相对较多似乎很有意思。为了获得充分的遗传学益处，新生儿尸检应该完整，并系统地进行遗传咨询。
