[Prenatal diagnosis in 350 amniocenteses]

Between march 1988 and march 1991, 350 amniocenteses were performed as a part of the prenatal diagnosis program at the Instituto Nacional de Perinatología. Cytogenetic diagnosis was obtained in 348 cases (99.4%). A total of ten abnormal fetal karyotypes (2.9%) were detected: Down's syndrome, (5) Edwards' syndrome, (2) Turner's syndrome, (1) Klinefelter's syndrome (1) and chromosomal instability. (1) In addition, one carrier of a Robertsonian translocation, two balanced carriers of reciprocal translocations and three cases of true mosaicism, were also detected. In the group of patients studied for indications other than risk of chromosomopathy, one female fetus affected by congenital adrenal hyperplasia, was observed. There were two miscarriages, resulting in a post-procedural fetal loss of 0.57%.