Prenatal diagnosis of congenital upper limb differences: a current concept review

J Matern Fetal Neonatal Med. 2017 Nov;30(21):2557-2563. doi: 10.1080/14767058.2016.1256989. Epub 2016 Nov 22.


Congenital upper limb differences are frequently associated with complex syndromes. Ultrasonography is considered as the first-line diagnostic modality, and fetal MRI can be useful to further evaluate ill-defined areas. Genetic and non-invasive prenatal testing help to identify the underlying genetic disorder. The diagnostic assessment is a multidisciplinary task that should involve early prenatal consultations with specialists involved in case management and treatment planning. Obstetricians, geneticists, radiologists, psychologists and dedicated surgeons are needed to provide good parental education, prenatal and postnatal care, and successful outcomes. The purpose of this review is to provide an overview of the clinicopathologic background, current diagnostic and imaging procedures in affected fetuses.

Keywords: Congenital hand difference; fetal MRI; fetal therapy; fetal ultrasound; genetic counseling; limb differences.

Publication types

  • Review

MeSH terms

  • Algorithms
  • Amniotic Band Syndrome / complications
  • Amniotic Band Syndrome / surgery
  • Female
  • Fetal Therapies
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Pregnancy
  • Ultrasonography, Prenatal*
  • Upper Extremity Deformities, Congenital / diagnostic imaging*
  • Upper Extremity Deformities, Congenital / etiology