Document Detail

Prenatal diagnosis by analysis of fetal cells in maternal blood.
MedLine Citation:
PMID:  8523179     Owner:  NLM     Status:  MEDLINE    
The data accumulated thus far indicate that fetal NRBCs are the target cell type of choice in maternal blood for most investigators, although some groups continue to work with the trophoblast. Reports of persistent circulation of hematopoietic stem cells, lymphoid/myeloid progenitors, and lymphocytes mandate that removal of these cell types must occur before clinical diagnosis of the current pregnancy can be made. In selected cases, accurate detection of fetal aneuploidy has been made from fetal cells in maternal blood; the clinical evaluation sponsored by the National Institute of Child Health and Human Development will determine the sensitivity and specificity of cytogenetic diagnosis in a larger group of pregnant women, but this information will not be available for several years. At present, detection of uniquely fetal, paternally inherited gene polymorphisms or mutations such as the Rh(D) antigen is possible only because the mother lacks these genes; hence, maternal cell contamination does not hinder diagnosis. Currently the presence of large numbers of maternal cells in enriched samples precludes single-gene diagnosis for conditions in which the mother carries a mutant gene, because her cells are preferentially amplified and difficult to distinguish from those of the fetus. It is likely, however, that as techniques of individual fetal cell isolation are perfected, maternal cell contamination will no longer be an issue, and the entire fetal genome will become available for diagnosis and therapy. Pediatricians need to be aware of the progress of research in this field, because fetal cell isolation from maternal blood not only could change prenatal diagnosis but would change the amount of genetic information that arrives with a newborn infant at birth. The ultimate goal of this work is to diagnose noninvasively, in the first trimester, the common fetal aneuploidies and single-gene disorders, to permit in utero treatment, or to allow low-risk pregnant women carrying an abnormal fetus an opportunity for reproductive choice.
D W Bianchi
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  127     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1995 Dec 
Date Detail:
Created Date:  1996-01-24     Completed Date:  1996-01-24     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  847-56     Citation Subset:  AIM; IM    
Department of Pediatrics, Tufts University School of Medicine, Boston, Massachusetts, USA.
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MeSH Terms
Antibodies, Monoclonal
Antigens, CD
Chorionic Villi Sampling
Down Syndrome / diagnosis
HLA-DQ Antigens
In Situ Hybridization
Leukocytes, Mononuclear
Maternal Age
Polymerase Chain Reaction
Prenatal Diagnosis*
Reg. No./Substance:
0/Antibodies, Monoclonal; 0/Antigens, CD; 0/HLA-DQ Antigens

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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