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Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00064597
Recruitment Status : Unknown
Verified June 2003 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Recruitment status was:  Active, not recruiting
First Posted : July 11, 2003
Last Update Posted : June 24, 2005
Information provided by:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Brief 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.

Condition or disease
Chromosome Disorders

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%.

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Study Type : Observational
Enrollment : 3500 participants
Observational Model: Defined Population
Primary Purpose: Screening
Time Perspective: Cross-Sectional
Time Perspective: Prospective
Official Title: National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY)
Study Start Date : December 1987
Study Completion Date : December 2003

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Prenatal Testing

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   16 Years to 45 Years   (Child, Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00064597

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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
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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Principal Investigator: Laird Jackson, MD
Principal Investigator: Diana Bianchi, MD
Principal Investigator: Mark Evans, MD
Principal Investigator: Sherman Elias, MD

Layout table for additonal information Identifier: NCT00064597    
Other Study ID Numbers: NICHD-NIFTY
First Posted: July 11, 2003    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: June 2003
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:
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Chromosome Disorders
Chromosome Aberrations
Congenital Abnormalities
Genetic Diseases, Inborn
Pathologic Processes