Chromosome Disorders Clinical Trial
Official title:
National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY)
This purpose of this study is to develop noninvasive methods of prenatal diagnosis. Fetal cells can be found in maternal blood. This study is designed to isolate these fetal cells from a sample of the pregnant woman’s blood and use those cells to test for fetal chromosome abnormalities.
Fetal cells can be recovered from maternal blood, suggesting that noninvasive prenatal
diagnosis is possible. However, recovery and analysis of fetal cells from maternal blood is
complex and sensitivity is low because of the rarity of these cells in the maternal
circulation. This study was designed to develop a noninvasive, safe, relatively inexpensive,
and accurate technique for the prenatal diagnosis of genetic disorders in the first
trimester.
The study included a systematic evaluation of variables involved in separating and enriching
fetal cells isolated from maternal blood through fluorescence activated cell sorting (FACS)
and magnetic activated cell sorting (MACS) followed by fluorescent in situ hybridization
(FISH) with chromosome-specific DNA probes. The results of these tests were compared to
those obtained from amniocentesis or chorionic villus sampling (CVS) on the same women. No
clinical decision was made based on the results of the experimental diagnostic/screening
technique.
Even if the biological risks associated with reproductive genetic technologies are reduced,
it is possible that other risks (or benefits) are associated with the procedures. Some of
these factors may be: increased or diminished maternal anxiety, increased adjustment or
maladaption to the pregnancy, increased feelings of coercion to undertake the procedure, and
increased or decreased comfort with reproductive decision-making. The study also assessed
whether there were any nonbiological or psychological effects on the women undergoing
prenatal diagnostic testing.
After the first five years of the study, preliminary analysis of the data showed that the
sensitivity of aneuploidy detection using fetal cell analysis from maternal blood is
comparable to single marker prenatal serum screening, but technological advances are needed
before fetal cell analysis has clinical application as part of a multiple maker method for
noninvasive prenatal screening. Target cell recovery and fetal cell detection were better
using MACS than with FACS. The detection rate of finding at least one aneuploid cell in
cases of fetal aneuploidy was 74.4%.
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Observational Model: Defined Population, Primary Purpose: Screening, Time Perspective: Cross-Sectional
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