Impact of screening programs on the prenatal diagnosis (detection rate) of trisomy 13 and 18 over a 30-year period.

Authors

Michele Santoro, Ilaria Ponziani, Laura Perna, Alessio Coi, Maria Valentina Abate, Lucia Pasquini

Published in

Journal of medical screening. Pages 9691413261486810. Sep 15, 2026. Epub Sep 15, 2026.

Abstract

ObjectiveTo evaluate the impact of screening policies in Tuscany on the detection of trisomy 13 and trisomy 18 (T13/T18) with respect to time of diagnosis. A secondary aim was to evaluate the prevalence of these aneuploidies and to report the associated malformations.MethodsData were extracted from the population-based Registry of Congenital Anomalies of Tuscany. All confirmed cases of T13/T18 among live births, stillbirths, miscarriages and terminations of pregnancy were included over a 30-year period (1994-2023). The prevalence for both aneuploidies was calculated overall and by age group (<35 years old; ≥ 35 years old). For prenatally diagnosed cases, median gestational age at diagnosis was calculated. The frequencies of the most common associated abnormalities were also calculated.ResultsAbout 529 fetuses were diagnosed with T13/T18, respectively 133 (25.1%) and 396 (74.9%). The prevalence among 10,000 births was 1.67 (95% CI 1.40-1.98) for T13 and 4.98 (95% CI 4.45-5.49) for T18. Prenatal detection rate for T13 increased from 88.2% (95% CI 72.5-96.7) to 100% (95% CI 88.1-100.0). For T18, it increased from 87.5% (95% CI 79.2-93.4) to 100% (95% CI 95.0-100.0). Median gestational age at discovery gradually decreased for both trisomies through the study period, from 17 to 12 weeks. The most common anomalies in T13 were nervous system anomalies (27.8%) and congenital heart defects (9.8%). T18-associated anomalies included congenital heart defects (11.9%) and nervous system anomalies (10.1%).ConclusionThe implementation of screening policies led to an improvement in the rate of detection of T13/18 and a decrease in the median gestational age at diagnosis.

PMID:
42742533
Bibliographic data and abstract were imported from PubMed on 15 Sep 2026.

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