Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence

Prenat Diagn. 2023 May;43(5):613-619. doi: 10.1002/pd.6317. Epub 2023 Feb 3.

Abstract

Objective: Robin sequence (RS) is a craniofacial anomaly characterized by small jaw (micrognathia) with associated tongue base airway obstruction. With advances in fetal imaging, micrognathia may be detected prenatally. This study aims to determine if prenatal recognition of micrognathia offers any advantage over being unaware of the condition until after delivery and to assess if prenatal consultation for micrognathia adds benefits beyond merely noting the presence of the condition.

Method: Retrospective chart review examining cases from 01/01/2010 to 12/31/2020 at an urban tertiary medical center.

Results: Forty seven infants with RS were included. 40.4% (n = 19) had micrognathia/retrognathia noted on prenatal ultrasound. 47.4% (n = 9) of those 19 pregnancies saw a maternal fetal medicine (MFM) program with craniofacial consultation. Compared to 28 infants not diagnosed with micrognathia until after birth, the 19 infants identified prenatally required fewer transfers from birth hospital (p = 0.02). Additionally, those referred to MFM with craniofacial consultation had shorter lengths of stay when airway intervention was required (p = 0.05).

Conclusion: Prenatal recognition of micrognathia may lead to early detection and management of RS. When RS is suspected, prenatal consultation with MFM and craniofacial team may further optimize care of the infant following delivery.

MeSH terms

  • Female
  • Humans
  • Infant
  • Micrognathism* / diagnostic imaging
  • Micrognathism* / therapy
  • Pierre Robin Syndrome* / diagnostic imaging
  • Pierre Robin Syndrome* / therapy
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Retrospective Studies
  • Ultrasonography, Prenatal