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Is Amniotic Fluid Level a Predictor for Syndromic Diagnosis in Robin Sequence?

Ans C M Kluivers1, Carly E Calabrese2, Maarten J Koudstaal2,3,4

  • 11 Erasmus University Medical Center, Rotterdam, the Netherlands.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|November 21, 2018
PubMed
Summary

Abnormal amniotic fluid levels, especially polyhydramnios, during pregnancy are linked to a higher chance of syndromic diagnosis in infants with Robin sequence (RS). This finding aids in early identification and management of RS patients. Keywords: Robin sequence, amniotic fluid, polyhydramnios, syndromic diagnosis.

Keywords:
Robin sequenceamniotic fluidoligohydramniospolyhydramniossyndrome

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnostics
  • Pediatric Surgery

Background:

  • Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction.
  • Determining syndromic status in RS is crucial for appropriate management and genetic counseling.
  • Prenatal detection of fetal anomalies can significantly impact postnatal care strategies.

Purpose of the Study:

  • To investigate the association between abnormal amniotic fluid levels during gestation and syndromic status in patients with Robin sequence.
  • To identify specific amniotic fluid abnormalities that may predict syndromic diagnosis in RS.

Main Methods:

  • Retrospective cohort study including patients with Robin sequence.
  • Classification of patients into syndromic and nonsyndromic groups based on postnatal diagnosis.
  • Analysis of amniotic fluid status (normal, oligohydramnios, polyhydramnios) as a predictor of syndromic diagnosis using logistic regression.

Main Results:

  • Patients with syndromic Robin sequence exhibited a significantly higher frequency of abnormal amniotic fluid levels (49.2%) compared to nonsyndromic cases (25.0%).
  • Abnormal amniotic fluid levels were associated with a 2.9-fold increased likelihood of a syndromic diagnosis in RS patients.
  • Polyhydramnios, more common than oligohydramnios, was linked to a 4.18 times increased likelihood of syndromic diagnosis.

Conclusions:

  • Abnormal gestational amniotic fluid volume, particularly polyhydramnios, is a significant indicator associated with an increased likelihood of syndromic diagnosis in individuals with Robin sequence.
  • These findings suggest that prenatal ultrasound assessment of amniotic fluid may aid in risk stratification for syndromic forms of RS.
  • Further research could explore the underlying mechanisms connecting amniotic fluid abnormalities and syndromic phenotypes in Robin sequence.