Analysis of uncultured amniocytes by comparative genomic hybridization: a prospective prenatal study

Comparative genomic hybridization (CGH) is a new molecular cytogenetic tech nique which can detect and map whole and partial aneuploidies throughout a genomic specimen DNA without culturing specimen cells. Thus, CGH may be use d as a comprehensive and rapid screening test in prenatal unbalanced chromo somal abnormalities detection. We report the results of the first prospecti ve study to evaluate the use of the CGH technique on uncultured amniocytes. Seventy-one amniotic fluid samples, obtained by transabdominal amniocentes is between the 14th and 35th weeks of gestation, were simultaneously invest igated using CGH and conventional cytogenetics. Amniocentesis were done for advanced maternal age (21.1%), fetal ultrasound anomalies (73.3%) and high level of biochemical markers in maternal serum (5.6%). Sixty-six (93%) inf ormative results were generated on a total of 71 analysed specimens. Fifty- nine samples were reported as disomic for all autosomes with a normal sex c hromosome constitution using CGH and conventional cytogenetics. Among them, three pericentromeric chromosomal inversions were undetected by CGH analys is. Seven numerical aberrations were characterized, including one case of t risomy 13, one case of trisomy 18 and five cases of trisomy 21. Advantages and limitations of CGH for a rapid prenatal screening of unbalanced chromos omal aberrations are discussed. Copyright (C) 2000 John Wiley & Sons, Ltd.