2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Prenatal diagnosis of anopthalmia with de novo variant in SOX2

Pdf Summary

This case report discusses the prenatal diagnosis of anophthalmia, a rare birth outcome characterized by the absence of one or both eyes. The ultrasound evaluation is important in guiding patient counseling and care, although it is typically focused on evaluating the presence of fetal orbits rather than the fetal lens. Abnormal eye development is associated with various syndromes and gene variants, including SOX2 pathologic variants. In this particular case, a 26-year-old pregnant woman with a history of supraventricular tachycardia and ADHD underwent an ultrasound that revealed bilateral absent lens and orbits. No other intracranial or facial anomalies were noted. Further evaluation, including infectious evaluation, genetic evaluation, and fetal MRI imaging, was offered to confirm the ophthalmologic and neuroanatomy findings. The patient opted for amniocentesis, which revealed a heterozygous pathogenic variant of the SOX2 gene. The variant was confirmed to be de novo through trio testing with whole exome sequencing. However, due to the distress caused by the anomaly and implications of blindness in the current pregnancy, the patient and her partner did not continue with further management. The case highlights the importance of detailed ultrasound evaluation in assessing fetal development and the role of genetic testing in counseling and planning for current and future pregnancies.

Asset Subtitle

Presenting Author - Jennifer Kidd, MD, MPH, FACOG; Co-Author - Jennifer Kidd, MD, MPH, FACOG; Co-Author - Berrin Monteleone, MD; Co-Author - Meghan McGath, MS; Co-Author - Martin Chavez, MD;

Meta Tag

Eye disorders

Fetal Pathology

Malformation

Prenatal Diagnosis

Co-Author Jennifer Kidd, MD, MPH, FACOG

Co-Author Berrin Monteleone, MD

Co-Author Meghan McGath, MS

Co-Author Martin Chavez, MD

Presenting Author Jennifer Kidd, MD, MPH, FACOG

Keywords

anophthalmia

prenatal diagnosis

ultrasound evaluation

fetal orbits

fetal lens

abnormal eye development

SOX2 pathologic variants

genetic evaluation

fetal MRI imaging

blindness