Ultrasound Findings in Trisomy 22

Abstract

We sought to identify the characteristic sonographic findings of fetal trisomy 22 by performing a retrospective review of nine cases of fetal trisomy 22. All cases of chromosomal mosaicism were excluded, as were first-trimester losses. Indications for sonography, gestational age, and sonographically detected fetal anomalies were analyzed. The majority of patients were referred for advanced maternal age or abnormal ultrasound findings on screening exam. Oligohydramnios was the most common sonographic finding, present in 55% of affected fetuses. Intrauterine growth restriction and increased nuchal thickness were slightly less frequent.

First trimester screening for other trisomies than trisomy 21, 18, and 13

“…Also for T22 our findings are coherent with previous results showing low median PAPP‐A MoM and NT median MoM around 1.0 . A publication describing ultrasound findings in nine cases of fetal T22 reports an increased NT in the first trimester in one third of the cases . The majority of the cases described by Sifakis et al and Scott et al show highly increased FβhCG MoM in the range of 5–6 MoM.…”

“…24,26 A publication describing ultrasound findings in nine cases of fetal T22 reports an increased NT in the first trimester in one third of the cases. 13 The majority of the cases described by Sifakis et al and Scott et al show highly increased FβhCG MoM in the range of 5-6 MoM. Most of these cases were screened using blood samples obtained in gestational weeks 12-17, which is considerably later than our cases, which were obtained in weeks 8 and 9.…”

“…T22 is very rarely found in liveborns, but it represents one of the most common chromosomal anomalies found in early spontaneous abortions reflecting a high intrauterine lethality. There is a considerable span of phenotypes in mosaic and non‐mosaic cases of T22, but the ultrasound scanning in the first and second trimester often shows fetal growth restriction and structural anomalies …”

“…There is a considerable span of phenotypes in mosaic and non-mosaic cases of T22, but the ultrasound scanning in the first and second trimester often shows fetal growth restriction and structural anomalies. 13 Other rare fetal trisomies, like T9, T8, and T20, are usually lethal and result in early miscarriage. However, placental mosaicism for one of these three aneuploidies displays variable phenotypes from severe fetal anomalies to normal fetuses of normal birth weight.…”

Live-Born Trisomy 22: Patient Report and Review

“…Several reports deal with prenatal sonographic findings [Sepulveda et al, 2003;Stressig et al, 2005;Sifakis et al, 2008;Schwendemann et al, 2009] and maternal serum biochemical markers in trisomy 22 pregnancies [Sifakis et al, 2008]. Schwendemann's report also mentions a live-born child with trisomy 22, but no further clinical details are given.…”