PMID- 12124698
OWN - NLM
STAT- MEDLINE
DCOM- 20030123
LR  - 20191210
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 22
IP  - 7
DP  - 2002 Jul
TI  - 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.
PG  - 609-15
AB  - OBJECTIVES: The National Institute of Child Health and Human Development Fetal 
      Cell Isolation Study (NIFTY) is a prospective, multicenter clinical project to 
      develop non-invasive methods of prenatal diagnosis. The initial objective was to 
      assess the utility of fetal cells in the peripheral blood of pregnant women to 
      diagnose or screen for fetal chromosome abnormalities. METHODS: Results of 
      fluorescence in situ hybridization (FISH) analysis on interphase nuclei of fetal 
      cells recovered from maternal blood were compared to metaphase karyotypes of 
      fetal cells obtained by amniocentesis or chorionic villus sampling (CVS). After 
      the first 5 years of the study we performed a planned analysis of the data. We 
      report here the data from 2744 fully processed pre-procedural blood samples; 1292 
      samples were from women carrying singleton male fetuses. RESULTS: Target cell 
      recovery and fetal cell detection were better using magnetic-based separation 
      systems (MACS) than with flow-sorting (FACS). Blinded FISH assessment of samples 
      from women carrying singleton male fetuses found at least one cell with an X and 
      Y signal in 41.4% of cases (95% CI: 37.4%, 45.5%). The false-positive rate of 
      gender detection was 11.1% (95% CI: 6.1,16.1%). This was higher than expected due 
      to the use of indirectly labeled FISH probes in one center. The detection rate of 
      finding at least one aneuploid cell in cases of fetal aneuploidy was 74.4% (95% 
      CI: 76.0%, 99.0%), with a false-positive rate estimated to be between 0.6% and 
      4.1%. CONCLUSIONS: 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 marker method for non-invasive 
      prenatal screening. The limitations of the present study, i.e. multiple 
      processing protocols, are being addressed in the ongoing study.
CI  - Copyright 2002 John Wiley & Sons, Ltd.
FAU - Bianchi, D W
AU  - Bianchi DW
AD  - Division of Genetics, Departments of Pediatrics, Obstetrics and Gynecology, Tufts 
      University School of Medicine, Boston, MA, USA. DBianchi@Lifespan.org
FAU - Simpson, J L
AU  - Simpson JL
FAU - Jackson, L G
AU  - Jackson LG
FAU - Elias, S
AU  - Elias S
FAU - Holzgreve, W
AU  - Holzgreve W
FAU - Evans, M I
AU  - Evans MI
FAU - Dukes, K A
AU  - Dukes KA
FAU - Sullivan, L M
AU  - Sullivan LM
FAU - Klinger, K W
AU  - Klinger KW
FAU - Bischoff, F Z
AU  - Bischoff FZ
FAU - Hahn, S
AU  - Hahn S
FAU - Johnson, K L
AU  - Johnson KL
FAU - Lewis, D
AU  - Lewis D
FAU - Wapner, R J
AU  - Wapner RJ
FAU - de la Cruz, F
AU  - de la Cruz F
LA  - eng
GR  - HD4-3201/HD/NICHD NIH HHS/United States
GR  - HD4-3202/HD/NICHD NIH HHS/United States
GR  - HD4-3203/HD/NICHD NIH HHS/United States
GR  - HD4-3204/HD/NICHD NIH HHS/United States
PT  - Comparative Study
PT  - Evaluation Study
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - *Aneuploidy
MH  - Cell Nucleus
MH  - Chorionic Villi Sampling
MH  - Female
MH  - Fetal Blood/*cytology
MH  - Flow Cytometry/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Mass Screening/*methods
MH  - Maternal-Fetal Exchange/physiology
MH  - Predictive Value of Tests
MH  - Pregnancy/*blood
MH  - Prenatal Diagnosis/*methods
MH  - Prospective Studies
MH  - Sex Determination Analysis/*methods
MH  - Single-Blind Method
EDAT- 2002/07/19 10:00
MHDA- 2003/01/24 04:00
CRDT- 2002/07/19 10:00
PHST- 2002/07/19 10:00 [pubmed]
PHST- 2003/01/24 04:00 [medline]
PHST- 2002/07/19 10:00 [entrez]
AID - 10.1002/pd.347 [doi]
PST - ppublish
SO  - Prenat Diagn. 2002 Jul;22(7):609-15. doi: 10.1002/pd.347.