Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.

Abstract:

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.

journal_name

Early Hum Dev

journal_title

Early human development

authors

Sifakis S,Ghatpande S,Seppo A,Kilpatrick MW,Tafas T,Tsipouras P,Fejgin M,Amiel A

doi

10.1016/j.earlhumdev.2010.04.005

subject

Has Abstract

pub_date

2010-05-01 00:00:00

pages

311-3

issue

5

eissn

0378-3782

issn

1872-6232

pii

S0378-3782(10)00088-5

journal_volume

86

pub_type

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