[Rapid prenatal diagnosis of chromosomal abnormalities; limitations and possibilities].
In the past, prenatal diagnosis of chromosomal abnormalities has been achieved using a microscope to make a visual assessment of the chromosomes in foetal cells which had been obtained by invasive procedures. The results were usually not available until 10-14 days later. Now molecular techniques have become available which provide a result within 24-48 hours. The first generation of these techniques combines speed with a focus on a limited number of frequent and important chromosomal abnormalities. Examples include fluorescence in-situ hybridisation (FISH), quantitative polymerase chain reaction (PCR) and multiple ligation-dependent probe amplification (MLPA). One drawback, therefore, is that other clinically significant chromosomal abnormalities will not be detected. More recently other new techniques have been making their appearance, such as array-comparative genomic hybridisation (CGH), which will allow the detection of clinically significant submicroscopic aberrations.
ten Kate
L P
LP
VU Medisch Centrum, afd. Klinische Genetica en Antropogenetica, Amsterdam. lp.tenkate@vumc.nl
D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D009693:Nucleic Acid Hybridization / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012680:Sensitivity and Specificity; D013997:Time Factors