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SP07. A Proposed Prenatal Diagnostic Algorithm for Microtia and Aural Atresia to Improve Early Detection, Parental Preparation, and Patient Outcomes

Year: 2025
Type: article
Abstract: PURPOSE: Microtia, a congenital malformation affecting approximately 1 in 3,800 live births in the United States, involves anomalies of the ear, resulting in asymmetry, conductive hearing loss, and psychosocial challenges. Frequently associated with other systemic defects like cardiac and renal abnormalities, microtia’s early detection is crucial for timely intervention. Despite advances in prenatal screening in identifying various congenital conditions like cleft lip, microtia remains underdiagnosed. This study proposes integrating microtia screening into standard prenatal ultrasound protocols, in collaboration with maternal-fetal medicine (MFM) specialists. Early identification through this enhanced screening could ensure timely diagnosis, allow for better parental preparedness, and provide expedited access to multidisciplinary specialist care, improving functional and psychosocial outcomes for patients. METHODS: A prenatal diagnostic protocol was developed to evaluate fetal ear structure during standard anatomy scans at 18-20 weeks of gestation, with additional scans at 24-28 weeks if microtia is suspected. The protocol evaluates ear anatomy, axis, orientation, and position relative to the skull using specialized ultrasound settings. Exclusion criteria include multiple gestations, abnormal noninvasive prenatal test results, suspected aneuploidies, and severe fetal structural abnormalities that may obscure anatomical views. The protocol was reviewed by MFM specialists across our hospital (n=5), and feedback was collected through a survey to assess the ease of implementation within and outside of our practice, the potential to improve the prenatal diagnosis of ear anomalies, clarity, confidence in execution and need for further training. Inter-rater agreement was measured using Gwet’s Agreement Coefficient (AC2). RESULTS: Response rate of our preliminary internal survey was high (100%). Survey results demonstrated that integrating microtia screening into routine prenatal care was feasible, with a projected likelihood of implementing the protocol within (72%) and outside (64%) the practice. The protocol’s ability to succeed in prenatal diagnosis was rated highly (88%), ease of use was rated at 72%, and confidence in performing the protocol scoring 84%. The need for further training was perceived to be needed by 76% of specialists. Inter-rater agreement was moderate (AC2 = 0.56), with a significant p-value (p<0.0001), confirming the strong reliability of the survey results. CONCLUSION: Our prenatal diagnostic protocol for microtia using ultrasound imaging may enable prenatal diagnosis, facilitating timely multidisciplinary care, hearing augmentation, language development, and surgical management, aiming to enhance physical and psychological rehabilitation for both the child and the parents. Survey feedback from our MFM specialists demonstrated that implementation of the protocol into routine prenatal ultrasound screening is feasible, easy to execute and a valuable tool in detecting ear anomalies, although widespread education and possible additional personnel training is needed. Our protocol has recently been implemented in our institution, aiming to enhance the early detection of hearing loss, support timely hearing augmentation, and communication development, ultimately reducing psychosocial stress and improving overall outcomes and quality of life.
Language: English
Subfield: Genetics
Field: Medicine
Open Access status: gold
Estimated APC paid: $2,195
OpenAlex ID: W4410011720
FWCI:
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Related to: 10