Abstract: 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.
Keywords: 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.
Comas C, Echevarria M, Rodríguez MÁ, Rodríguez I, Serra B, Cirigliano V. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience. Diagnostics. 2012; 2(4):57-71.
Comas, Carmen; Echevarria, Mónica; Rodríguez, María Á.; Rodríguez, Ignacio; Serra, Bernat; Cirigliano, Vincenzo. 2012. "Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience." Diagnostics 2, no. 4: 57-71.