Molecular cytogenetics: an essential component of modern prenatal diagnosis.
Traditional cytogenetic studies with high-resolution banding techniques have been the mainstay of prenatal diagnosis for > 20 years. However, this approach is limited by the resolution of light microscopy, and it requires cultured cells, necessitating a significant delay in obtaining chromosome studies. The advent of molecular cytogenetics, or fluorescence in situ hybridization, has added an adjunctive tool to overcome both these limitations. During a 16-month period 35 prenatal diagnosis cases had molecular cytogenetic studies performed; 71% of the evaluations were informative. We present five of these cases to illustrate the benefits of this technique for clinical prenatal diagnosis.
Hogge
W A
WA
Department of Obstetrics, Gynecology, University of Pittsburgh, PA, USA.
Surti
U
U
Kochmar
S J
SJ
Mowery-Rushton
P
P
Cumbie
K
K
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D003582:Cytogenetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*