Fetal Profile Markers for the Detection of Robin Sequence in Fetuses with Retrognathia

Abstract

Objective To determine whether the prefrontal space ratio (PSFR), inferior facial (IFA) and maxilla-nasion-mandible angle (MNM), and the fetal profile line (FPL) are helpful in identifying fetuses with Robin sequence (RS) in cases with isolated retrognathia, and thus better predict the likelihood of immediate need for postnatal respiratory support.

Methods This was a retrospective matched case-control study of fetuses/infants with isolated retrognathia with or without RS receiving pre- and postnatal treatment at the University Hospital of Tübingen, Germany between 2008 and 2020. The PFSR, IFA, MNM, and FPL were measured in affected and normal fetuses according to standardized protocols. Cases were stratified into isolated retrognathia and RS.

Results 21 (n=7 isolated retrognathia, n=14 RS) affected fetuses and 252 normal fetuses were included. Their median gestational age at ultrasound examination was 23.6 and 24.1 weeks, respectively. In fetuses with isolated retrognathia and RS, the PSFR, IFA, and FPL were significantly different from the normal population. At a false-positive rate of 5%, the detection rate was 76.2% for the PFSR, 85.7% for the IFA, and 90.5% for both parameters combined. However, all parameters failed to distinguish between isolated retrognathia and RS.

Conclusion PSFR and IFA are simple markers for identifying retrognathia prenatally. However, they are not helpful for the detection of RS in fetuses with isolated retrognathia. Therefore, delivery should take place in a center experienced with RS and potentially life-threatening airway obstruction immediately after birth.

Zusammenfassung

Zielsetzung Es sollte bestimmt werden, ob das präfrontale Raumverhältnis (PSFR), der inferiore faziale Winkel (IFA) und der Maxilla-Nasion-Mandibula-Winkel (MNM) oder die fetale Profillinie (FPL) bei der Identifizierung von Föten mit Robin-Sequenz (RS) in Fällen mit isolierter Retrognathie hilfreich sind, um so die Wahrscheinlichkeit eines unmittelbaren Bedarfs an postnataler Atmungsunterstützung besser vorherzusagen zu können.

Methoden Dies war eine retrospektive, gematchte Fall-Kontroll-Studie von Föten/Kindern mit isolierter Retrognathie mit oder ohne RS, die zwischen 2008 und 2020 im Universitätsklinikum Tübingen, Deutschland prä- und postnatal behandelt wurden. Die PFSR, IFA, MNM und FPL wurden bei betroffenen und normalen Föten nach standardisierten Protokollen gemessen. Die Patienten wurden in isolierte Retrognathie und RS unterteilt.

Ergebnisse 21 (n=7 isolierte Retrognathie, n=14 RS) betroffene und 252 normale Föten wurden eingeschlossen. Das mediane Gestationsalter bei der Ultraschalluntersuchung betrug 23,6 bzw. 24,1 Wochen. Bei Föten mit isolierter Retrognathie und RS unterschieden sich die PSFR, IFA und FPL signifikant von der normalen Population. Bei einer Falsch-Positiv-Rate von 5% betrug die Erkennungsrate 76,2% für die PFSR, 85,7% für die IFA und 90,5% für beide Parameter zusammen. Alle Parameter konnten jedoch nicht zwischen isolierter Retrognathie und RS unterscheiden.

Schlussfolgerung PSFR und IFA sind einfache Marker zur pränatalen Identifizierung von Retrognathien. Sie sind jedoch nicht hilfreich für die Erkennung von RS bei Föten mit isolierter Retrognathie. Daher sollte die Entbindung in einem Zentrum erfolgen, das Erfahrung mit RS und einer potenziell lebensbedrohlichen Atemwegsobstruktion unmittelbar nach der Geburt hat.

Keywords

Robin sequence - infant - upper airway obstruction - prenatal screening - retrognathia

Publication History

Received: 19 March 2021

Accepted after revision: 23 September 2021

Article published online:
01 December 2021

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