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

Prenat Diagn. 2000 Feb;20(2):123-31. doi: 10.1002/(sici)1097-0223(200002)20:2<123::aid-pd762>;2-b.


Comparative genomic hybridization (CGH) is a new molecular cytogenetic technique which can detect and map whole and partial aneuploidies throughout a genomic specimen DNA without culturing specimen cells. Thus, CGH may be used as a comprehensive and rapid screening test in prenatal unbalanced chromosomal abnormalities detection. We report the results of the first prospective study to evaluate the use of the CGH technique on uncultured amniocytes. Seventy-one amniotic fluid samples, obtained by transabdominal amniocentesis between the 14th and 35th weeks of gestation, were simultaneously investigated 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%) informative results were generated on a total of 71 analysed specimens. Fifty-nine samples were reported as disomic for all autosomes with a normal sex chromosome constitution using CGH and conventional cytogenetics. Among them, three pericentromeric chromosomal inversions were undetected by CGH analysis. Seven numerical aberrations were characterized, including one case of trisomy 13, one case of trisomy 18 and five cases of trisomy 21. Advantages and limitations of CGH for a rapid prenatal screening of unbalanced chromosomal aberrations are discussed.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amniocentesis
  • Amniotic Fluid / cytology*
  • Aneuploidy
  • Chromosome Aberrations*
  • Chromosome Inversion
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics
  • Female
  • Gestational Age
  • Humans
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization*
  • Pregnancy
  • Prenatal Diagnosis*
  • Prospective Studies