Chromosome constitution of 500 infants dying during the perinatal period

Research paper by G. A. Machin, J. A. Crolla

Indexed on: 01 Sep '74Published on: 01 Sep '74Published in: Humangenetik


500 chromosome results were obtained from 726 necropsied hospital perinatal deaths in London. There were 28 chromosome abnormalities (5.6% of the results). 9% of ante-partum deaths, 4% of intra-partum deaths and 6% of early neonatal deaths were chromosomally abnormal. 13% of lethally malformed infants had a chromosomal anomaly. Trisomy 18 was the most common abnormality and appears to be considerably more frequent at birth than is generally thought. Genetic disorders were found in a further 1% of perinatal deaths. The importance of the perinatal necropsy as a screening procedure for genetic disease is stressed.