With the continued explosion of genetic technology, the number of disorders
amenable to screening is expanding geometrically. Historically, most genet
ic screening has been in the newborn period. Much more can be done for the
fetus if genetic screening and diagnosis are accomplished early in the preg
nancy rather than after birth. The principal requirements to make neonatal
screening disorders possible in the first trimester center around those tes
ts that can be one on a molecular basis, and the development of fetal cell
isolation from the maternal circulation. Over the course of the next decade
, it is likely that many of the tests currently performed in the newborn pe
riod will be accomplished in the early or mid-gestational period.