Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case report
DOI:
https://doi.org/10.18597/rcog.4019Keywords:
Arthrogryposis, club foot, exome, syndrome, prenatal diagnosisAbstract
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 patient 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.
Author Biographies
Walter Annicchiarico-López, Universidad de Cartagena, Cartagena de Indias (Colombia).
Grupo de Investigación GRICIO, Universidad de Cartagena, Cartagena de Indias (Colombia).
Leidy Ximena Peña-Pardo, Clínica de la Mujer Cartagena S.A.S., Cartagena de Indias (Colombia).
Departamento de Ginecología y Obstetricia, Universidad de Cartagena; Clínica de la Mujer Cartagena S.A.S., Cartagena de Indias (Colombia).
Jezid Enrique Miranda-Quintero, Centro Hospitalario Serena del Mar, Cartagena de Indias (Colombia).
Departamento de Ginecología y Obstetricia, Centro Hospitalario Serena del Mar, Cartagena de Indias (Colombia).
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