Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report

TL;DR

This case report describes the prenatal diagnosis of Peters-Plus syndrome in twin fetuses using exome sequencing after observing multiple abnormal features.

Contribution

The study presents a rare prenatal case of Peters-Plus syndrome diagnosed through exome sequencing in a twin pregnancy.

Findings

Prenatal exome sequencing confirmed a homozygous B3GLCT variant in both fetuses.

Early-onset growth restriction and limb shortening were key prenatal indicators.

Advanced genetic testing is crucial for diagnosing rare multisystem fetal disorders.

Abstract

Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the B3GLCT gene and characterized by multisystem involvement. Fewer than 100 cases have been reported to date, and only a limited number have been diagnosed prenatally. Prenatal identification is challenging due to the variable and non-specific nature of fetal findings and the frequent absence of detectable ocular anomalies during routine ultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotic twin pregnancy, based on the progressive identification of early-onset intrauterine growth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild central nervous system abnormalities. Standard cytogenetic and chromosomal microarray analyses were normal, prompting extended genetic testing. Prenatal exome sequencing identified a homozygous pathogenic splice-site variant (c.660+1G>A) in B3GLCT in both fetuses, confirming the diagnosis. This case highlights the importance of recognizing suggestive multisystem prenatal findings and the crucial role of advanced genetic testing in achieving an accurate prenatal diagnosis. Early molecular confirmation enables appropriate parental counseling regarding prognosis, recurrence risk, and future reproductive options.

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