W. Holzgreve et al., PRENATAL-DIAGNOSIS ON FETAL CELLS FROM BLOOD OF PREGNANT-WOMEN - EXPERIENCES FROM BASEL, Schweizerische medizinische Wochenschrift, 128(43), 1998, pp. 1641-1645
Currently prenatal diagnosis relies on invasive procedures such as cho
rion villus sampling (CVS) or amniocentesis (AC). Many parents are rel
uctant to expose themselves and their child to the small, but signific
ant risk posed by these procedures to mother and child. There is, henc
e, a great need for a risk-free non-invasive alternative. To achieve t
his goal most research has been focussed on enriching fetal cells from
the blood of pregnant women. The erythroblast has emerged as the targ
et cell of choice, since it is abundant in the early fetus, rare in no
rmal adult blood, and since it has a very short half life, there is no
risk of obtaining cells from previous pregnancies. Most enrichment pr
otocols rely either on magnetic - or fluorescent activated cell sortin
g (MACS and FAGS) using fetal specific antibodies. These enriched cell
s can be examined by FISH (fluorescence in-situ hybridisation) for the
presence of the most common fetal chromosomal aneuploidies (13, 18, 2
1, X and Y) or by polymerase chain reaction (PCR) on singly manipulate
d cells for genetic disorders. The efficacy in detecting fetal aneuplo
idies is currently being evaluated in a phase II clinical trial under
the auspices of the NIH-NICHD, the so-called NIFTY Trial, in which our
group is a participant. By modifying our enrichment protocols we have
recently been able to obtain detection sensitivities of almost 80%, t
hereby renewing our optimism that this methodology provides a solid ba
sis for an effective non-invasive prenatal diagnostic test.