Chromosome abnormalities account for approximately half of all spontaneous pregnancy
losses, are among the most common etiologies for birth defects, and are the single
most common cause of mental retardation. Since the advent of amniocentesis in the
late 1960s, testing for aneuploidy has become common, especially in women of advanced
maternal age and those with a positive biochemical screening test for Down syndrome.
With the vast improvement in ultrasound technology to help guide invasive procedures,
new prenatal diagnosis techniques have been developed that permit the analysis of
numerous tissues of embryonic origin. These techniques include traditional amniocentesis,
early amniocentesis (<15 weeks), transabdominal and transcervical chorionic villus
sampling (CVS), fetal blood sampling, fetal skin biopsy, analysis of fetal urine,
and testing of fetal cystic hygroma fluid. The laboratory evaluation of samples derived
from these tissues also has expanded dramatically in the past few years. Whereas traditional
cytogenetic analysis had previously been the exclusive test for chromosome abnormalities,
current methodologies include fluorescence in situ hybridization (FISH) for common
aneuploidies involving chromosomes 13, 18, 21, X, and Y, as well as other molecular
cytogenetic tests. These molecular cytogenetic tests permit evaluation and further
characterization of microdeletions, marker chromosomes, translocations, deletions,
inversions, and subtelomeric deletions; and DNA-based tests can be used to rule out
uniparental disomy. This review discusses the indications, techniques, and risks associated
with current, clinically available prenatal diagnosis techniques and provides the
laboratory perspective of how these samples can be analyzed to maximize prenatal diagnosis
capability.
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