Next Article in Journal
Gold Nanoparticles-Coated SU-8 for Sensitive Fluorescence-Based Detections of DNA
Next Article in Special Issue
Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood
Previous Article in Journal
Visual Suppression is Impaired in Spinocerebellar Ataxia Type 6 but Preserved in Benign Paroxysmal Positional Vertigo
Article Menu

Export Article

Open AccessArticle
Diagnostics 2012, 2(4), 57-71; doi:10.3390/diagnostics2040057

Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

Department of Obstetrics and Gynecology, Institut Dexeus, Fetal Medicine Unit., Gran Via Carles III, 71-75, 08028 Barcelona, Spain
Molecular Genetics, LABCO Diagnostics, Londres 28, 08029 Barcelona, Spain
Author to whom correspondence should be addressed.
Received: 2 October 2012 / Revised: 31 October 2012 / Accepted: 13 November 2012 / Published: 19 November 2012
(This article belongs to the Special Issue Advance in Prenatal Diagnosis)
View Full-Text   |   Download PDF [997 KB, uploaded 19 November 2012]   |  


Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique. View Full-Text
Keywords: screening; prenatal invasive test; chromosome abnormality; down syndrome screening; prenatal invasive test; chromosome abnormality; down syndrome

Figure 1

This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Comas, C.; Echevarria, M.; Rodríguez, M.Á.; Rodríguez, I.; Serra, B.; Cirigliano, V. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience. Diagnostics 2012, 2, 57-71.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Diagnostics EISSN 2075-4418 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top