Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

A Visual Tool Inclusive of Fetal Ultrasound and Autopsy Findings to Reach a Balanced Approach to Counselling on Trisomy 18 in Early Second Trimester

Version 1 : Received: 24 August 2020 / Approved: 25 August 2020 / Online: 25 August 2020 (11:32:14 CEST)

How to cite: Triunfo, S.; Bonollo, M.; Gaffuri, P.; Viviano, M.; Satta, D.; Bergmann, M. A Visual Tool Inclusive of Fetal Ultrasound and Autopsy Findings to Reach a Balanced Approach to Counselling on Trisomy 18 in Early Second Trimester. Preprints 2020, 2020080549 (doi: 10.20944/preprints202008.0549.v1). Triunfo, S.; Bonollo, M.; Gaffuri, P.; Viviano, M.; Satta, D.; Bergmann, M. A Visual Tool Inclusive of Fetal Ultrasound and Autopsy Findings to Reach a Balanced Approach to Counselling on Trisomy 18 in Early Second Trimester. Preprints 2020, 2020080549 (doi: 10.20944/preprints202008.0549.v1).

Abstract

Identified by the eponym “Edwards’ Syndrome,” trisomy 18 (T18) represents the second most common autosomal trisomy after T21. The pathophysiology underlying the extra chromosome 18 is a nondisjunction error, mainly linked with the advanced maternal age. More frequent in female fetuses, the syndrome portends high mortality, reaching a rate of 80% of miscarriages or stillbirths. The three-step evaluation includes first trimester screening for fetal aneuploidy using a combination of maternal age, fetal nuchal translucency thickness, fetal heart rate and maternal serum free ß-hCG and PAPP-A; followed by the research for fragments of fetal DNA in maternal blood; and, finally, invasive techniques leave to the established diagnosis. Starting with the first trimester scan, selected ultrasound findings should be investigated to define not only the impact of the genetic problem on the fetus, but also to address the prenatal counselling. Previous series underline that T18 is not uniformly lethal. An active dialogue on the choices in the management of infants with T18 has emerged, sustained by the transition from the comfort care to the intervention attitude. Survival rates for individuals with supposedly fatal conditions have increased. In this novel scenario, an ad hoc counselling is pivotal. To support it, a comparative analysis by pictorial assays between ultrasound and autopsy findings could be beneficial. We provide an illustrative tool from a clinical case managed in early second trimester, with the purpose to strive a balanced approach in the hard choice faced by couples of fetuses with T18.

Subject Areas

Trisomy 18; diagnosis; ultrasound; counselling; autopsy

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our diversity statement.

Leave a public comment
Send a private comment to the author(s)
Views 0
Downloads 0
Comments 0
Metrics 0


×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.