Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Abstract

Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay.

Problem: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.

Keywords: mosaic aneuploidies; mosaic trisomy 22; trisomy 22 mosaicism.

Figure 1

Flowchart describing the records selection for the review, as per PRISMA 2020 guidelines [10].

Figure 2

A summary of the NT values and the placental hormones in the first trimester of the Minella et al. cases [20] and our cases. Abbreviations: CVS: Chorionic villi sampling; AF: Amniotic fluid; wks: Weeks; NT: Nuchal translucency. PAPP-A and β HCG are reported in MoMs, while NT is expressed in [mm].