Abstract

As the molecular basis for an increasing number of inherited diseases is known, including recently the predominant deletion causing cystic fibrosis (Riordan et al. 1989), many genetic defects are now being diagnosed prenatally by DNA analysis (Cooper and Schmidtke 1987). With diseases in which the gene defects are relatively homogeneous, direct DNA analysis is often possible using cDNA probes; with other diseases involving heterogeneous defects or high rates of new mutations, closely linked markers, mainly restriction fragment length polymorphisms (RFLPs), are commonly used. Both of these approaches require a minimum of nanogram, and more usually microgram, quantities of fetal genomic DNA from a million or more cells (Old 1986). With the development of chorion villus sampling, a sufficient number of trophoblast cells can be recovered from the conceptus as early as 8 weeks of gestation (Rodeck 1984).

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