Genetic Screening Tests and Prenatal Diagnosis for Aneuploidies

JOURNAL TITLE: Donald School Journal of Ultrasound in Obstetrics and Gynecology

Author
1. Valentina Corda
ISSN
0973-614X
DOI
10.5005/jp-journals-10009-1661
Volume
14
Issue
3
Publishing Year
2020
Pages
6
Author Affiliations
    1. Microcitemico Pediatric Hospital, “A Cao”, Cagliari, Italy
  • Article keywords

    Abstract

    The genetic screening and prenatal diagnosis panorama have been profoundly modified in the last 30 years. This study analyzes the changes on international level and shares the experience of our maternal-fetal-perinatal medicine center at the Microcitemico Hospital, Cagliari. We observed the evolution of screening tests for fetal aneuploidies. There was an overall reduction of invasive prenatal procedures, probably due to denatality, the innovations in ultrasound imaging technology, and the introduction of noninvasive prenatal testing. Furthermore, we reported the decrease of amniocentesis as compared to chorionic villous sampling (CVS) and the decline of fetal loss rates following both of these procedures. The demand for training fellows in invasive prenatal procedures and especially in CVS is continuously increasing.

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