Prenatal diagnosis of fetal adducted thumbs

Yinon Gilboa, Michal Berkenstadt, Sofia Leytes, Reuven Achiron, Sharon Perlman

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs. Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented. Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed. Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis.

Original languageEnglish
Pages (from-to)1285-1289
Number of pages5
JournalJournal of Maternal-Fetal and Neonatal Medicine
Volume31
Issue number10
DOIs
StatePublished - 19 May 2018

Keywords

  • Adducted thumbs
  • L1CAM
  • neurodevelopmental disorders
  • prenatal diagnosis
  • ultrasound

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