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Revista Colombiana de Obstetricia y Ginecología
Print version ISSN 0034-7434On-line version ISSN 2463-0225
Abstract
ANNICCHIARICO-LOPEZ MD, Walter; PENA-PARDO MD, Leidy Ximena and MIRANDA-QUINTERO MD, PHD, Jezid Enrique. Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report. Rev. colomb. obstet. ginecol. [online]. 2023, vol.74, n.4, pp.310-316. Epub Dec 30, 2023. ISSN 0034-7434. https://doi.org/10.18597/rcog.4019.
Objectives:
To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing.
Materials and methods:
A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis.
Conclusions:
Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.
Keywords : Arthrogryposis; club foot; exome; syndrome; prenatal diagnosis.
