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Diagnostics 2012, 2(4), 57-71;

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)
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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

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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.

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