Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood

The recruitment status of this study is unknown because the information has not been verified recently.
Verified June 2003 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:
NCT00064597
First received: July 10, 2003
Last updated: June 23, 2005
Last verified: June 2003
  Purpose

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.


Condition
Chromosome Disorders

Study Type: Observational
Study Design: Observational Model: Defined Population
Primary Purpose: Screening
Time Perspective: Cross-Sectional
Official Title: National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY)

Resource links provided by NLM:


Further study details as provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):

Estimated Enrollment: 3500
Study Start Date: December 1987
Estimated Study Completion Date: December 2003
Detailed 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%.

  Eligibility

Ages Eligible for Study:   16 Years to 45 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00064597

Locations
United States, Illinois
University of Illinois at Chicago
Chicago, Illinois, United States
United States, Massachusetts
New England Medical Center Hospital
Boston, Massachusetts, United States
United States, Michigan
Wayne State University
Detroit, Michigan, United States
United States, Pennsylvania
Jefferson Medical College
Philadelphia, Pennsylvania, United States, 19107-5563
United States, Texas
Baylor College of Medicine
Houston, Texas, United States
Sponsors and Collaborators
Investigators
Principal Investigator: Laird Jackson, MD
Principal Investigator: Diana Bianchi, MD
Principal Investigator: Mark Evans, MD
Principal Investigator: Sherman Elias, MD
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00064597     History of Changes
Other Study ID Numbers: NICHD-NIFTY, 1N01HD43201, 1N01HD43202, 1N01HD43203, 1N01HD43204
Study First Received: July 10, 2003
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):
Fetal cells
Prenatal diagnosis
Cytogenetic disorders
Chromosomal disorders
Single gene mutation detection
Abnormal serum marker profile
Fluorescence activated cell sorting (FACS)
Magnetic activated cell sorting (MACS)
Fluorescence in situ hybridization (FISH)
Chromosomal disorders of the fetus
Single gene defects of the fetus

Additional relevant MeSH terms:
Chromosome Disorders
Chromosome Aberrations
Congenital Abnormalities
Genetic Diseases, Inborn
Pathologic Processes

ClinicalTrials.gov processed this record on September 30, 2014