Genetic Amniocentesis and Follow‐Up Study of the Infants: A Japanese Collaborative Work

Prenatal diagnosis of genetic disease in Japan today, as of the end of 1978, and results of a follow-up study of infants born after genetic amniocentesis are reported. Of the 585 amniocentesis in 523 women, 568 cases contributed data for the results of their analysis. A previous history of pregnancy with Down's syndrome was a major indication in these 585 cases (59.5%); other indications included advanced maternal age 69 cases (11.8%), and metabolic disorder 56 cases (9.6%). Fetal loss occurred in a total 12 out of 542 cases (2.2%). Ten of these fetal losses occurred during the mid-trimester. No increase in perinatal mortality, perinatal morbidity or retardation of physical and mental development as a consequence of amniocentesis was observed. Erroneous diagnosis was attested in 7 out of 568 cases (1.2%). Test accuracy was thus demonstrated at 98.8%.