| The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis. | |
| | |
MedLine Citation:
|
PMID: 20661888 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
OBJECTIVE: The objective was to determine the risk of sampling error in amniocentesis and chorionic villus sampling (CVS) in singleton and multiple pregnancies. Data from this and other published studies were used to discuss current practice guidelines for molecular identity testing. METHOD: Clinical and laboratory records of all patients undergoing molecular-based identity testing in our clinical laboratory from July 2002 until March 2008 were reviewed. DNA microsatellite testing was performed to determine zygosity in multiple pregnancies and maternal cell contamination (MCC) in both singleton and multiple pregnancies. RESULTS: MCC was detected in 6/148 (4%) CVS and 1/87 (1%) amniotic fluids from singleton pregnancies. In two of the CVS, only maternal cells were found. In 2/24 (8%) twin pregnancies, the same fetus was tested twice. In a total of 285 pregnancies (235 singleton, 24 twin, 26 with >or= 3 fetuses), without molecular identity testing, four women would have received erroneous results. CONCLUSION: Current guidelines recommend molecular identity testing for MCC in conjunction with molecular diagnostic testing, but not for cytogenetic testing. No published guidelines were found for zygosity testing in multiple pregnancies. We suggest that identity testing be considered for all prenatal testing of multiple pregnancies, especially if CVS is performed. |
| | |
Authors:
|
E J T Winsor; H Akoury; D Chitayat; L Steele; T L Stockley |
Related Documents
:
|
7910398 - Prenatal diagnosis of x-linked hydrocephalus in a chinese family with four successive a... 1948258 - Prenatal diagnosis of thalassemia and hemoglobinopathies in thailand: experience from 1... 82278 - Antenatal diagnosis in practice. 9664608 - Prenatal diagnosis of machado-joseph disease by direct mutation analysis. 12950578 - A comparative study of selected physical properties of five root-canal sealers. 808128 - A comparison between the lecithin/sphingomyelin ratio of gluck and other phospholipid v... |
Publication Detail:
|
Type: Journal Article; Multicenter Study |
Journal Detail:
|
Title: Prenatal diagnosis Volume: 30 ISSN: 1097-0223 ISO Abbreviation: Prenat. Diagn. Publication Date: 2010 Aug |
Date Detail:
|
Created Date: 2010-07-27 Completed Date: 2010-11-22 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: England |
Other Details:
|
Languages: eng Pagination: 746-52 Citation Subset: IM |
Copyright Information:
|
(c) 2010 John Wiley & Sons, Ltd. |
Affiliation:
|
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada. ewinsor@mtsinai.on.ca |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Amniocentesis
/
methods*,
standards Chorionic Villi Sampling / methods*, standards DNA / chemistry, genetics* Female Humans Microsatellite Repeats* Pathology, Molecular / methods*, standards Pregnancy Pregnancy, Multiple Retrospective Studies Selection Bias |
| Chemical | |
Reg. No./Substance:
|
9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Ultrasonography of the fetal brainstem: a biometric and anatomical, multioperator, cross-sectional s...
Next Document: Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently...