Pranatale Diagnostik mittels fetaler Zellen im mutterlichen Blut: ein Erfahrungsbericht aus Basel. [Prenatal diagnosis with fetal cells in maternal blood: report of experiences in Basal]

Details

Serval ID
serval:BIB_98000A194378
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Pranatale Diagnostik mittels fetaler Zellen im mutterlichen Blut: ein Erfahrungsbericht aus Basel. [Prenatal diagnosis with fetal cells in maternal blood: report of experiences in Basal]
Journal
Schweizerische Medizinische Wochenschrift
Author(s)
Holzgreve  W., Troeger  C., Schatt  S., Vial  Y., Louwen  F., Gloning  K., Hahn  S.
ISSN
0036-7672 (Print)
Publication state
Published
Issued date
10/1998
Volume
128
Number
43
Pages
1641-5
Notes
Clinical Trial
Clinical Trial, Phase II
English Abstract
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Oct 24
Abstract
Currently prenatal diagnosis relies on invasive procedures such as chorion villus sampling (CVS) or amniocentesis (AC). Many parents are reluctant to expose themselves and their child to the small, but significant risk posed by these procedures to mother and child. There is, hence, a great need for a risk-free non-invasive alternative. To achieve this goal most research has been focussed on enriching fetal cells from the blood of pregnant women. The erythroblast has emerged as the target cell of choice, since it is abundant in the early fetus, rare in normal adult blood, and since it has a very short half life, there is no risk of obtaining cells from previous pregnancies. Most enrichment protocols rely either on magnetic- or fluorescent activated cell sorting (MACS and FACS) using fetal specific antibodies. These enriched cells can be examined by FISH (fluorescence in-situ hybridisation) for the presence of the most common fetal chromosomal aneuploidies (13, 18, 21, X and Y) or by polymerase chain reaction (PCR) on singly manipulated cells for genetic disorders. The efficacy in detecting fetal aneuploidies is currently being evaluated in a phase II clinical trial under the auspices of the NIH-NICHD, the so-called NIFTY Trial, in which our group is a participant. By modifying our enrichment protocols we have recently been able to obtain detection sensitivities of almost 80%, thereby renewing our optimism that this methodology provides a solid basis for an effective non-invasive prenatal diagnostic test.
Keywords
Abnormalities/*diagnosis/genetics Adult Female Fetal Blood/*cytology Genetic Diseases, Inborn/*diagnosis/genetics Humans In Situ Hybridization, Fluorescence Infant, Newborn Male Pregnancy Prenatal Diagnosis/*methods Sensitivity and Specificity
Pubmed
Web of science
Create date
25/01/2008 12:17
Last modification date
20/08/2019 15:59
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