PMID- 15065097
OWN - NLM
STAT- MEDLINE
DCOM- 20040722
LR  - 20161124
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 24
IP  - 4
DP  - 2004 Apr
TI  - Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for 
      a rapid first-trimester prenatal diagnosis.
PG  - 249-56
AB  - OBJECTIVES: Early diagnosis of unbalanced chromosomal abnormalities can be 
      crucial in minimizing the trauma caused by an elective abortion. Chorionic villus 
      sampling (CVS) can be performed from 9 weeks of gestation. However, two major 
      problems are encountered in fetal karyotyping using cultured cells from chorionic 
      villi: the relatively slow growth of these cells in culture, which delays the 
      diagnosis, and the occurrence of maternal cell contamination (MCC). With FISH, a 
      result can be obtained within 24 h, and, as no cell culturing is involved, the 
      problem of MCC is minimized. METHODS: Thirty-two women undergoing CVS between 9 
      and 12 weeks of gestation were offered FISH analysis in addition to the standard 
      chromosome analysis. RESULTS: FISH was informative in all of the cases tested. 
      Eleven aneuploidies were detected in cases of hygroma or abnormal nuchal 
      translucency and two out of four fetuses from parental translocation were 
      unbalanced. The decision to perform early termination of these chromosomally 
      abnormal pregnancies was based on FISH results and ultrasound abnormalities, 
      without waiting for karyotype results. CONCLUSION: The present study confirms 
      that the association of FISH and CVS allows a rapid and early prenatal diagnosis, 
      and emphasizes that this association is of great benefit in cases of known 
      parental balanced translocation or when hygroma is detected by ultrasonography.
CI  - Copyright 2004 John Wiley & Sons, Ltd.
FAU - Goumy, Carole
AU  - Goumy C
AD  - Cytogenetique Medicale, Faculte de Medecine/CHU, Clermont-Ferrand, France. 
      carole.goumy@u-clermont1.fr
FAU - Bonnet-Dupeyron, Marie-Noelle
AU  - Bonnet-Dupeyron MN
FAU - Cherasse, Yoan
AU  - Cherasse Y
FAU - Laurichesse, Helene
AU  - Laurichesse H
FAU - Jaffray, Jean-Yves
AU  - Jaffray JY
FAU - Lacroute, Gisele
AU  - Lacroute G
FAU - Geneix, Aime
AU  - Geneix A
FAU - Lemery, Didier
AU  - Lemery D
FAU - Vago, Philippe
AU  - Vago P
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Aneuploidy
MH  - *Chorionic Villi Sampling
MH  - *Chromosome Aberrations
MH  - Female
MH  - *Gestational Age
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Lymphangioma, Cystic/genetics
MH  - Neck/diagnostic imaging/embryology
MH  - Pregnancy
MH  - Pregnancy Trimester, First
MH  - Prenatal Diagnosis/*methods
MH  - Translocation, Genetic
MH  - Ultrasonography, Prenatal
EDAT- 2004/04/06 05:00
MHDA- 2004/07/23 05:00
CRDT- 2004/04/06 05:00
PHST- 2004/04/06 05:00 [pubmed]
PHST- 2004/07/23 05:00 [medline]
PHST- 2004/04/06 05:00 [entrez]
AID - 10.1002/pd.845 [doi]
PST - ppublish
SO  - Prenat Diagn. 2004 Apr;24(4):249-56. doi: 10.1002/pd.845.