Details

Autor(en) / Beteiligte

• EVANS, MARK L.
• HOLZGREVE, WOLFGANG
• JOHNSON, MARK PAUL
• GÄNSHIRT, DOROTHEE
• SOKOL, ROBERT J.
• Elias, S (eds)
• Simpson, JL

Titel

Fetal Cell Testing: Societal and Ethical Speculations

Ist Teil von

• Annals of the New York Academy of Sciences, 1994-09, Vol.731 (1), p.257-261

Ort / Verlag

Oxford, UK: Blackwell Publishing Ltd

Erscheinungsjahr

1994

Quelle

Wiley Online Library Journals Frontfile Complete

Beschreibungen/Notizen

• The search for the perfect screening technique for chromosome abnormalities has over the past two decades evolved into a sophisticated paradigm of biochemical and biophysical parameters. In the 20 years plus since Brock and Sutcliffe first reported on the use of amniotic fluid alpha -fetoprotein (AFP) for neural tube defects and then maternal serum (MS) as a screening device for such defects, the sophistication of testing, with resultant improvements in sensitivity and specificity, has increased notably. Parallel to the biochemical technologies, as far back as 1972, ultrasound was used in rare cases to diagnose severe neural tube defects such as anencephaly. Even by the mid-1980s, however, despite tremendous advances in ultrasound, biochemical screening tests such as MS AFP were still considerably better than ultrasound. The association of low MS AFP with chromosome abnormalities, particularly Down's syndrome, radically changed the concept of maternal age counseling. For the first time, historically derived risks could be modified in a systematic way by biochemistry. Using such an approach, the 20% of Down's syndrome cases "detectable" by virtue of their occurring to women over 35 years of age, could be increased to about 50% of the total (i.e., 30% of the 80% under age 35). The increase was clearly a big improvement, but still was less than optimal. The concept of multiple marker screening was first published in 1988, either as double screening (AFP plus hCG) or triple screening (AFP, hCG, and estriol), and was predicted to result in a considerable increase in sensitivity and specificity.