Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more

Autor: Gianluigi Pilu, Francesca Ravennati, Tullio Ghi, Elisa Maroni, Eva Pompilii, Maria Carla Pittalis, Elisa Montaguti, G. Pacella, T. Arcangeli, Nicola Rizzo, Ginevra Salsi
Přispěvatelé: T. Ghi, T. Arcangeli, F. Ravennati, G. Salsi, E. Montaguti, G. Pacella, E. Maroni, M. C. Pittali, E. Pompilii, G. Pilu, N. Rizzo
Rok vydání: 2014
Předmět:
Zdroj: The Journal of Maternal-Fetal & Neonatal Medicine. 28:674-678
ISSN: 1476-4954
1476-7058
DOI: 10.3109/14767058.2014.928852
Popis: Objective: To compare the policy of prenatal diagnosis versus first trimester screening of trisomy 21 among pregnant women of advanced age. Methods: A retrospective study was conducted on patients aged ≥35 divided in two groups: patients who requested first trimester combined test and only in case of screen-positive result underwent invasive testing (group A); patients undergoing chorionic villous sampling or amniocentesis as first investigation (group B). The following outcome variables were compared: antenatal detection of trisomy 21, occurrence of trisomy 21 at birth, miscarriage rate, hospitals' costs. Results: 4527 women were included. Of these, 534 (11.80\%) underwent T21 screening whereas 3993 (88.20\%) requested primary invasive testing. In group A, 64 combined test were positive (11.99\%) and 8 trisomy 21 cases were diagnosed (1.50\%); the loss of euploid fetuses after invasive procedure was 4.55\% (2/44). No false-negative case was observed. In group B 57 cases of trisomy 21 were diagnosed (1.43\%), and pregnancy loss rate of chromosomally normal fetuses was 0.45\% (17/3806). The estimated cost was, respectively, 67.720€ for the primary screening versus 1.996.500€ for direct prenatal diagnosis. Conclusion: First trimester screening of trisomy 21 is highly accurate and cost saving among women ≥35.
Databáze: OpenAIRE