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SMFM Fetal Anomalies Consult Series #1: Facial Anomalies

Published:September 06, 2019DOI:https://doi.org/10.1016/j.ajog.2019.08.048

      Introduction: Facial Anomalies

      Anomalies of the fetal face can be isolated or a component of a complex syndrome. The syndromic involvement of multiple other organ systems can result in adverse outcomes. Evaluation of the fetal face is a basic part of the sonographic fetal survey, and detection of fetal facial anomalies is a key component of prenatal diagnosis. A standard obstetric ultrasound examination requires only evaluation of the upper lip and is suboptimal for the identification of a range of fetal facial anomalies.
      American Institute of Ultrasound in Medicine
      AIUM practice guideline for the performance of obstetric ultrasound examinations.
      American College of Obstetricians and Gynecologists
      Practice Bulletin No. 175: ultrasound in pregnancy.
      A detailed obstetric ultrasound examination is more comprehensive and is required if a facial cleft or other facial dysmorphologic condition is suspected on the standard obstetric anatomic scan or if the patient is at risk based on medical or family history. A detailed obstetric ultrasound examination of the face includes the profile, nose, lips, orbits and lenses, palate, maxilla, mandible, and tongue as well as the size and position of the fetal ears, depending on clinical suspicion.
      • Wax J.
      • Minkoff H.
      • Johnson A.
      • et al.
      Consensus report on the detailed fetal anatomic ultrasound examination: indications, components, and qualifications.
      The fetal face should be evaluated in a systematic method with the use of 3 orthogonal planes. This cross-sectional approach to imaging will maximize the detection of facial abnormalities. The coronal view is used to evaluate the integrity of the soft tissue of the fetal lips and appearance of the nostrils (Figure 1). It also allows for evaluation of the fetal lenses and mandible (Figure 2). The midsagittal plane is used to demonstrate the fetal profile, which highlights the appearance of the forehead, presence of the nasal bone, contour of the nose and lips, and position and appearance of the fetal chin (Figure 3). In this plane, one can also evaluate the bones of the maxilla and mandible. The transverse (axial) view can be used to evaluate the fetal orbits and lenses, paired nasal bones (Figure 4), the tongue (Figure 5), and the alveolar ridge that comprises the primary palate (Figure 6). Surface rendering with three-dimensional imaging may be helpful in the demonstration of soft tissue defects. Nomograms are available for various biometric measurements.
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      Figure 1Coronal view of nostrils, lips, and nose
      SMFM Fetal Anomalies Consult Series #1. AmJ Obstet Gynecol 2019.
      Figure thumbnail gr2
      Figure 2Coronal view of orbits and mandible
      SMFM Fetal Anomalies Consult Series #1. Am J Obstet Gynecol 2019.
      Figure thumbnail gr3
      Figure 3Midsagittal view of fetal profile
      NB, nasal bone.
      SMFM Fetal Anomalies Consult Series #1. Am J Obstet Gynecol 2019.
      Figure thumbnail gr4
      Figure 4Transverse plane and axial view of lenses, orbits, and nasal bones
      SMFM Fetal Anomalies Consult Series #1. Am J Obstet Gynecol 2019.
      Figure thumbnail gr5
      Figure 5Transverse plane and axial view of tongue
      SMFM Fetal Anomalies Consult Series #1. Am J Obstet Gynecol 2019.
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      Figure 6Transverse plane and axial view of alveolar ridge
      SMFM Fetal Anomalies Consult Series #1. Am J Obstet Gynecol 2019.
      If a facial anomaly has been detected and a search for other abnormalities has been completed, the patient must be counseled properly about the ramifications of the findings, further genetic counseling with options for detailed diagnostic testing, prognosis, and further pregnancy management. A multidisciplinary team should be convened to discuss postnatal surgery, genetic evaluation, and alimentary support, if necessary.
      This series reviews the sonographic diagnosis, genetic evaluation, and potential treatment and outcome of the following facial abnormalities:
      Absent nasal bone
      Paramedian orofacial cleft
      Micrognathia
      Hypotelorism
      Hypertelorism
      Anophthalmia and microphthalmia
      Median facial cleft
      The practice of medicine continues to evolve, and individual circumstances will vary. This opinion reflects information available at the time of its submission for publication and is neither designed nor intended to establish an exclusive standard of perinatal care. This presentation is not expected to reflect the opinions of all members of the Society for Maternal-Fetal Medicine.
      Reprints will not be available.
      All authors and Committee members have filed a conflict of interest disclosure delineating personal, professional, and/or business interests that might be perceived as a real or potential conflict of interest in relation to this publication. Any conflicts have been resolved through a process approved by the Executive Board. The Society for Maternal-Fetal Medicine has neither solicited nor accepted any commercial involvement in the development of the content of this publication.
      This document has undergone an internal peer review through a multilevel committee process within the Society for Maternal-Fetal Medicine (SMFM). This review involves critique and feedback from the SMFM Publications and Document Review Committees and final approval by the SMFM Executive Committee. SMFM accepts sole responsibility for document content. SMFM publications do not undergo editorial and peer review by the American Journal of Obstetrics & Gynecology. The SMFM Publications Committee reviews publications every 18-24 months and issues updates as needed. Further details regarding SMFM Publications can be found at www.smfm.org/publications. All questions or comments regarding the document should be referred to the SMFM Publications Committee at [email protected] .

      Coding

      When coding for fetal facial anomalies (such as fetal cleft lip, fetal cleft palate, micrognathia, microopthalamia, hypotelorism, hypertelorism, or absent nasal bone), the SMFM Coding Committee recommends utilizing the ICD-10 code series O35.8xx0 - O35.8xx9.

      Acknowledgments

      The authors wish to acknowledge Mary E. Norton, MD, Jeffrey A. Kuller, MD, and Angie C. Jelin, MD, for providing a review of the genetics content and Joseph Wax, MD, for providing a general review of this Consult.

      References

        • American Institute of Ultrasound in Medicine
        AIUM practice guideline for the performance of obstetric ultrasound examinations.
        J Ultrasound Med. 2013; 32: 1083-1101
        • American College of Obstetricians and Gynecologists
        Practice Bulletin No. 175: ultrasound in pregnancy.
        Obstet Gynecol. 2016; 128: e241-e256
        • Wax J.
        • Minkoff H.
        • Johnson A.
        • et al.
        Consensus report on the detailed fetal anatomic ultrasound examination: indications, components, and qualifications.
        J Ultrasound Med. 2014; 33: 189-195