Document Detail

Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.
MedLine Citation:
PMID:  20471760     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Fetal cells exfoliate in the uterine cavity during early pregnancy and are a potential source of material for NIPD.
AIMS: This study was designed to test the hypothesis that fetal cells obtained from the uterine cervix during the first trimester of pregnancy could be utilized for prenatal diagnosis of chromosomal aneuploidy.
STUDY DESIGN: Fetal cells retrieved from the distal endocervical canal during the first trimester of pregnancy were hybridized with chromosome 21 specific FISH probes and analyzed with an automated fluorescence microscope.
SUBJECTS AND OUTCOME MEASURES: Cells with 3 copies of chromosome 21 were detected in 5 out of 5 trisomy 21 pregnancies.
RESULTS: The number of trisomic cells detected ranged from 1 to 27 with a median value of 5.
CONCLUSIONS: FISH-based scanning can identify trisomy 21 pregnancies by analysis of routine cervical brushings. The approach offers the potential for non-invasive prenatal diagnosis as early as 5 weeks gestation.
Stavros Sifakis; Satish Ghatpande; Antti Seppo; Michael W Kilpatrick; Triantaphyllos Tafas; Petros Tsipouras; Moshe Fejgin; Aliza Amiel
Publication Detail:
Type:  Clinical Trial; Journal Article     Date:  2010-05-14
Journal Detail:
Title:  Early human development     Volume:  86     ISSN:  1872-6232     ISO Abbreviation:  Early Hum. Dev.     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-07-08     Completed Date:  2010-09-28     Revised Date:  2013-11-06    
Medline Journal Info:
Nlm Unique ID:  7708381     Medline TA:  Early Hum Dev     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  311-3     Citation Subset:  IM    
Copyright Information:
2010 Elsevier Ireland Ltd. All rights reserved.
Department of Obstetrics-Gynecology, University Hospital of Heraklion, Crete, Greece.
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MeSH Terms
Down Syndrome / diagnosis*,  pathology
In Situ Hybridization, Fluorescence
Pregnancy Trimester, First
Prenatal Diagnosis / methods*
Trophoblasts / pathology*
Vaginal Smears*

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

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