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

Sifakis, Stavros; Ghatpande, Satish; Seppo, Antti; Kilpatrick, Michael W.; Tafas, Triantaphyllos; Tsipouras, Petros; Fejgin, Moshe; Amiel, Aliza

doi:10.1016/j.earlhumdev.2010.04.005

« Previous Next »Early Human Development
Volume 86, Issue 5 , Pages 311-313, May 2010

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

Stavros Sifakis
- Department of Obstetrics-Gynecology, University Hospital of Heraklion, Crete, Greece
Satish Ghatpande
- Ikonisys Inc, 5 Science Park, New Haven, CT 06511, USA
Antti Seppo
- Ikonisys Inc, 5 Science Park, New Haven, CT 06511, USA
Michael W. Kilpatrick
- Ikonisys Inc, 5 Science Park, New Haven, CT 06511, USA
Triantaphyllos Tafas
- Ikonisys Inc, 5 Science Park, New Haven, CT 06511, USA
Petros Tsipouras
- Ikonisys Inc, 5 Science Park, New Haven, CT 06511, USA
Moshe Fejgin
- Genetic Institute, Meir Hospital, Kfar-Saba, Israel
- Sackler School of Medicine, Tel Aviv University, Israel
- Monaliza Medical, Kfar-Saba, Israel
Aliza Amiel
- Genetic Institute, Meir Hospital, Kfar-Saba, Israel
- Monaliza Medical, Kfar-Saba, Israel
- Bar Ilan University, Ramat-Gan, Israel
- Corresponding author. Genetics Institute, Meir General Hospital, Kfar-Saba 44281, Israel. Tel.: +972 9 7472220; fax: +972 9 7471296.

Received 2 February 2010; received in revised form 30 March 2010; accepted 20 April 2010.

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 5weeks gestation.

Keywords: Cervical smear, Non-invasive prenatal diagnosis, FISH, Trisomy 21, Trophoblasts