Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study

• Published in: Medicine (Baltimore) Vol. 97; no. 38; p. e12437
• Main Authors: Ouyang, Yun-Shu, Zhang, Yi-Xiu, Meng, Hua, Wu, Xi-Ning, Qi, Qing-Wei
• Format: Journal Article
• Language: English
• Published: United States Wolters Kluwer Health 01.09.2018
• Subjects: Brain - diagnostic imaging; Brain - pathology; DNA Copy Number Variations - genetics; Female; Fetus - abnormalities; Fetus - diagnostic imaging; Genetic Diseases, X-Linked - diagnostic imaging; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - mortality; Gestational Age; Hand Deformities - diagnostic imaging; Humans; Intellectual Disability - diagnostic imaging; Intellectual Disability - genetics; Intellectual Disability - mortality; Magnetic Resonance Imaging - methods; Male; Neurodevelopmental Disorders - diagnostic imaging; Observational Study; Polyhydramnios - diagnostic imaging; Pregnancy; Prenatal Diagnosis - instrumentation; Retrospective Studies; Spastic Paraplegia, Hereditary - diagnostic imaging; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - mortality; Thumb - abnormalities; Thumb - diagnostic imaging; Thumb - pathology; Ultrasonography, Prenatal - methods
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000012437

Fetal adducted thumbs have been described in association with hydrocephalus and other abnormalities, but in cases without other structural malformations the determination of prognosis and recurrence risk is challenging. The aim of our study is to analyze the characteristics, natural history, and postnatal outcome of such cases.A retrospective study was conducted over a period of 4 years in a tertiary referral center. All fetuses diagnosed as adducted thumbs without other structural malformations comprised the study group. Prenatal sonographic features and neonatal outcome are documented.There were 4 cases of fetal adducted thumbs diagnosed during the study period. No cases demonstrated other structural malformations throughout the gestation. A smaller head was noted in 2 cases during the follow-up, and all cases presented with polyhydramnios on the first or ensuing scans. Three cases died after birth due to swallowing or breathing difficulty, and the surviving 1 showed convulsion and mental retardation.Fetal adducted thumb might be an early and specific sonographic marker of impaired neurodevelopment. Close follow-up and genetic investigation should be performed in these cases. Ultrasound examination plays an important role in the prenatal diagnosis and counseling of cases without detailed prenatal genetic analysis.