QF-PCR in fetal diagnosis of chromosomal abnormalities - early assessment briefs (Alert)
Swedish Council on Technology Assessment in Health Care
Record ID 32005000004
Swedish
Authors' objectives:
This review aims to assess the available evidence on quantitative fluorescence polymerase chain reaction (QF-PCR) analysis for detecting chromosomal abnormalities in the foetus.
Authors' recommendations:
The results from two studies that compare QF-PCR to karyotyping have shown that the method has a good potential to detect abnormalities in chromosomes 13, 18, and 21. However, one of the studies has reported isolated false negative cases with regard to the sex chromosomes (X and Y). With current practice, approximately 12 to 16 chromosomal abnormalities are detected annually in Sweden in chromosomes other than the five selected, and these cannot be identified with the use of QF-PCR. As with all analyses that involve samples of amniotic fluid or the placenta, the collection procedure itself involves an increased risk for miscarriage (approximately 0.5-1 percent).
There is strong scientific evidence for the capacity of QF-PCR to identify chromosomal abnormalities in the five chromosomes 13, 18, 21, X and Y with good accuracy (Evidence grade 1). The documentation is insufficient to assess the cost-effectiveness of the method. It is of great importance that health service providers discuss the ethical implications and the economic consequences of the method before it replaces karyotyping.
Authors' methods:
Review
Details
Project Status:
Completed
URL for project:
http://www.sbu.se/Published
Year Published:
2004
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Sweden
MeSH Terms
- Chromosome Disorders
- Polymerase Chain Reaction
- Prenatal Diagnosis
Contact
Organisation Name:
Swedish Agency for Health Technology Assessment and Assessment of Social Services
Contact Address:
P.O. Box 3657, SE-103 59 Stockholm, Sweden. Tel: +46 8 4123200, Fax: +46 8 4113260
Contact Name:
registrator@sbu.se
Contact Email:
registrator@sbu.se
Copyright:
Swedish Council on Technology Assessment in Health Care (SBU)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.