Cytogenetics in the 1970s and 1980s.

摘要

By the mid to late 1970s, much of the groundwork for the prenatal diagnosis of cytogenetic disorders was already in place; although compared with today, there was relatively little in the garden. Fledgling cytogenetics laboratories in the UK had already established postnatal services using blood lymphocyte cultures (although often without the benefit of G-banding) and were slowly introducing karyotyping of amniocyte cultures. However, with no effective screening for high-risk pregnancies, other than maternal age, referrals were predominantly from women with a previous history of trisomy 21, or because of a familial translocation; indeed, in the early days samples were as likely to be for diagnosis of biochemical disorders, fetal sexing or neural tube defects, as for chromosomal errors. Due to the limited resolution or lack of availability of ultrasound, the risk of the amniocentesis procedure itself was such that it was not something to be performed lightly.