Chromosome DisordersNCT00064597
Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood
An observational study of Chromosome Disorders, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 5 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 to 45 years, women only
- Conditions the study is for
- Chromosome Disorders
- How many people
- 3,500 participants
- Where
- 5 sitesUnited States
- Study dates
- Dec 1987to Dec 2003
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 to 45 years
- Women only
- No healthy volunteers
- Child, Adult
Who may be able to join
- Pregnant
- Abnormal serum marker profile (alpha-fetoprotein, hCG, estriol)
- Ultrasound abnormalities of the fetus
- Any high risk indicator for aneuploidy as determined by physician
Who cannot join
None listed.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
New England Medical Center Hospital
Boston, Massachusetts
University of Illinois at Chicago
Chicago, Illinois
Wayne State University
Detroit, Michigan
Baylor College of Medicine
Houston, Texas
Jefferson Medical College
Philadelphia, Pennsylvania, 19107-5563
About this study
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.
Read the 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%.
- Conditions
- Chromosome Disorders
- Keywords
- 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
- Medical subject headings
- Chromosome Disorders
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jul 2003 (estimated)
- Study startDec 1987
- Study completionDec 2003
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Chromosome DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Defined population
- Time perspective
- Other
- Enrolment
- 3,500 participants
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Investigators
- Laird Jackson, MD, Principal investigatorDiana Bianchi, MD, Principal investigatorMark Evans, MD, Principal investigatorSherman Elias, MD, Principal investigator
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00064597
- Sponsor's protocol ID
- NICHD-NIFTY
- Other IDs
- 1N01HD43201, 1N01HD43202, 1N01HD43203, 1N01HD43204
- Status last verified
- Jun 2003
- First submitted
- 10 Jul 2003
- Last updated
- 24 Jun 2005
- Results posted
- No
Publications
Bischoff FZ, Hahn S, Johnson KL, Simpson JL, Bianchi DW, Lewis DE, Weber WD, Klinger K, Elias S, Jackson LG, Evans MI, Holzgreve W, de la Cruz F. Intact fetal cells in maternal plasma: are they really there? Lancet. 2003 Jan 11;361(9352):139-40. doi: 10.1016/S0140-6736(03)12191-5.
PubMed 12531583Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15. doi: 10.1002/pd.347.
PubMed 12124698Bianchi DW. Prenatal exclusion of recessively inherited disorders: should maternal plasma analysis precede invasive techniques? Clin Chem. 2002 May;48(5):689-90. No abstract available.
PubMed 11978594Bohmer RM, Stroh HP, Johnson KL, LeShane ES, Bianchi DW. Fetal cell isolation from maternal blood cultures by flow cytometric hemoglobin profiles. Results of a preliminary clinical trial. Fetal Diagn Ther. 2002 Mar-Apr;17(2):83-9. doi: 10.1159/000048014.
PubMed 11844911Lee T, LeShane ES, Messerlian GM, Canick JA, Farina A, Heber WW, Bianchi DW. Down syndrome and cell-free fetal DNA in archived maternal serum. Am J Obstet Gynecol. 2002 Nov;187(5):1217-21. doi: 10.1067/mob.2002.127462.
PubMed 12439507
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY)
- ClinicalTrials.gov ID
- NCT00064597
- Acronym / sponsor ID
- NICHD-NIFTY
- Conditions
- Chromosome Disorders
- Keywords
- 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)
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 3,500 participants
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- Dec 1987
- Study completion
- Dec 2003
- First posted
- 11 Jul 2003 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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%.
Study design
- Observational model
- Defined population
- Time perspective
- Other
Who may qualify
- Ages
- 16 to 45 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- Pregnant
- Abnormal serum marker profile (alpha-fetoprotein, hCG, estriol)
- Ultrasound abnormalities of the fetus
- Any high risk indicator for aneuploidy as determined by physician
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jun 2005.
- Background: PubMed 12531583Bischoff FZ, Hahn S, Johnson KL, Simpson JL, Bianchi DW, Lewis DE, Weber WD, Klinger K, Elias S, Jackson LG, Evans MI, Holzgreve W, de la Cruz F. Intact fetal cells in maternal plasma: are they really there? Lancet. 2003 Jan 11;361(9352):139-40. doi: 10.1016/S0140-6736(03)12191-5.
- Background: PubMed 12124698Bianchi DW, Simpson JL, Jackson LG, Elias S, Holzgreve W, Evans MI, Dukes KA, Sullivan LM, Klinger KW, Bischoff FZ, Hahn S, Johnson KL, Lewis D, Wapner RJ, de la Cruz F. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat Diagn. 2002 Jul;22(7):609-15. doi: 10.1002/pd.347.
- Background: PubMed 11978594Bianchi DW. Prenatal exclusion of recessively inherited disorders: should maternal plasma analysis precede invasive techniques? Clin Chem. 2002 May;48(5):689-90. No abstract available.
- Background: PubMed 11844911Bohmer RM, Stroh HP, Johnson KL, LeShane ES, Bianchi DW. Fetal cell isolation from maternal blood cultures by flow cytometric hemoglobin profiles. Results of a preliminary clinical trial. Fetal Diagn Ther. 2002 Mar-Apr;17(2):83-9. doi: 10.1159/000048014.
- Background: PubMed 12439507Lee T, LeShane ES, Messerlian GM, Canick JA, Farina A, Heber WW, Bianchi DW. Down syndrome and cell-free fetal DNA in archived maternal serum. Am J Obstet Gynecol. 2002 Nov;187(5):1217-21. doi: 10.1067/mob.2002.127462.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laird Jackson, MD principal investigator
Diana Bianchi, MD principal investigator
Mark Evans, MD principal investigator
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Chromosome Disorders, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 24 Jun 2005. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00064597, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jun 2005.