Overview

This trial is active, not recruiting.

Condition chromosome disorders
Sponsor Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Start date December 1987
End date December 2003
Trial size 3500 participants
Trial identifier NCT00064597, 1N01HD43201, 1N01HD43202, 1N01HD43203, 1N01HD43204, NICHD-NIFTY

Summary

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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model defined population
Primary purpose screening
Time perspective cross-sectional

Eligibility Criteria

Female participants from 16 years up to 45 years old.

Inclusion Criteria - Pregnant - Abnormal serum marker profile (alpha-fetoprotein, hCG, estriol) - Ultrasound abnormalities of the fetus - Any high risk indicator for aneuploidy as determined by physician

Additional Information

Official title National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY)
Principal investigator Laird Jackson, MD
Description 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%.
Trial information was received from ClinicalTrials.gov and was last updated in June 2005.
Information provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).