Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.
BACKGROUND
Fetal cells exfoliate in the uterine cavity during early pregnancy and are a potential source of material for NIPD.


OBJECTIVE
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.


METHODS
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.


METHODS
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.
Sifakis
Stavros
S
Department of Obstetrics-Gynecology, University Hospital of Heraklion, Crete, Greece.
Ghatpande
Satish
S
Seppo
Antti
A
Kilpatrick
Michael W
MW
Tafas
Triantaphyllos
T
Tsipouras
Petros
P
Fejgin
Moshe
M
Amiel
Aliza
A
D004314:Down Syndrome / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D014327:Trophoblasts / Q000473:pathology*; D014626:Vaginal Smears