Abstract
Objective
To determine the fetal ultrasound findings associated with Sotos syndrome caused by
deletions at 5q35 including the NSD1 and a point mutation in this gene.
Study design
This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified
by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory
data were collected and reviewed for these cases.
Results
Two cases had no significant fetal abnormalities, and were only diagnosed after birth.
One case presented in the first trimester with increased nuchal translucency. The
remaining five fetuses were identified at late gestation. One of the five fetuses
presented in the second trimester with mild ventriculomegaly, and four in the third
trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done
on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally
inherited NSD1 variant in one case.
Conclusion
The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions
at 5q35 and a point mutation in the NSD1 are not specific with the most common finding
being mild ventriculomegaly.
Keywords
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Article info
Publication history
Published online: October 07, 2022
Accepted:
October 3,
2022
Received in revised form:
September 17,
2022
Received:
June 13,
2022
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.
