RRML - Fetal aneuploidy diagnosis through rapid fluorescence in situ hybridization (FISH) on uncultured amniocytes
AMLR

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.5
Five Year Impact Factor 0.5
JCI 0.12

Advanced search

Top 10 downloaded articles
- November 2024 -
 
Towards appropriate training f... 31
Recomandările naționale ale ... 28
Biomarkers of acute kidney inj... 23
A comprehensive review of glyc... 20
Agreement between different eG... 19
Investigation of cytokine chan... 19
Expressions of vascular endoth... 17
Role of Th1/Th2 imbalance medi... 16
Small patients, big challenges... 9
The frequency of EGFR gene mut... 8

Log in

Concept, Design & Programming
Dr. Adrian Man
   
 
Nr. 19(2)/2011
XML
TXT

Fetal aneuploidy diagnosis through rapid fluorescence in situ hybridization (FISH) on uncultured amniocytes

Dragoş Nemescu, Violeta Martiniuc, Eusebiu Vlad Gorduza, Mircea Onofriescu


Abstract:

Rapid prenatal diagnostic tests are now increasingly popular, either as a stand-alone test or associated with conventional karyotype. Their main advantages are maternal anxiety relief and low cost. However, the results are available in more than 48 hours from amniocentesis. We present a rapid fluorescence in situ hybridization (FISH) technique, modified to give prenatal diagnostic results in the same day as amniocentesis, using probes for chromosomes 13, 18, 21, X and Y. We tested this technique on 30 amniotic fluid samples in a blinded study. The results were released in maximum 4 hours from the sample collection, including time between laboratories. The method was also validated on cases with trisomy 21 and 18, triploidy and one XYY syndrome. Results of this fast FISH technique were 100% concordant with karyotype. By this method, the results can be released on the same day from amniocentesis, and thus this is a useful method for a one-day stop prenatal diagnosis service. As a stand-alone approach, fast FISH method could be used in a subgroup of patients, where invasive prenatal diagnosis is performed only for an increased risk for aneuploidy, from a positive screening test, but needs karyotype association especially in cases with fetal ultrasound anomalies.

Keywords: fluorescence in situ hybridization (FISH),aneuploidy,amniocyte,amniocentesis,karyotype

 
  PDF Download full text PDF
(220 KB)
     
 
How to cite
Nemescu D, Martiniuc V, Gorduza EV, Onofriescu M. Fetal aneuploidy diagnosis through rapid fluorescence in situ hybridization (FISH) on uncultured amniocytes. Rev Romana Med Lab. 2011;19(2):161-7