Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 17 , ISSUE 4 ( October-December, 2023 ) > List of Articles

Original Article

40 Years of Experience in Invasive Prenatal Genetic Diagnosis

Giovanni Monni, Rosa Maria Ibba, Giuseppina Cau, Federica Murgia

Keywords : Amniocentesis, Chorionic villus sampling, Fetal blood sampling, Genetic diseases, Preimplantation genetic diagnosis

Citation Information : Monni G, Ibba RM, Cau G, Murgia F. 40 Years of Experience in Invasive Prenatal Genetic Diagnosis. Donald School J Ultrasound Obstet Gynecol 2023; 17 (4):349-352.

DOI: 10.5005/jp-journals-10009-1995

License: CC BY-NC 4.0

Published Online: 28-12-2023

Copyright Statement:  Copyright © 2023; The Author(s).


The field of genetic prenatal diagnosis has seen remarkable advances in terms of prevention of birth defects and genetic diseases in the last 40 years. This progress is due to the operators’ experience with new genome studies and molecular biology analysis. In the meantime, the most sophisticated ultrasonography equipment has made it possible to perform fetal procedures in early pregnancy as well as in the preimplantation period, thus making prenatal diagnosis increasingly accepted by couples wishing to plan their offspring and reducing the anxiety of waiting for the diagnostic response, and, in severe cases when chosen by the woman, the possibility of terminating the pregnancy in the first trimester. In the new era of genetic screening using combined tests and noninvasive prenatal testing (NIPT), we have had a decrease in invasive prenatal diagnostic procedures and a progressive increase in chorionic villus sampling (CVS) compared to amniocentesis for chromosomal indications. In this paper, we describe the invasive sampling techniques performed at Microcitemico Hospital–Cagliari in the last 40 years by fetal blood sampling (FBS), amniocentesis, CVS, and preimplantation genetic diagnosis (PGD) applied to prevent the most common fetal genetic disorders.

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