Prenatal diagnosis of micrognathia: a systematic review

Cang, Zheng-Qiang; Cui, Jian; Pei, Jiaomiao; Wang, Zheng; Du, Yang; Mu, Siqi; Dou, Wenjie; Fan, Xing; Zhang, Xi; Li, Yang

doi:10.3389/fped.2023.1161421

Cited by 2 publications

References 42 publications

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Automated Craniofacial Biometry with 3D T2w Fetal MRI

Matthew,

Uus,

Collado

et al. 2024

Preprint

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ObjectivesEvaluating craniofacial phenotype-genotype correlations prenatally is increasingly important; however, it is subjective and challenging with 3D ultrasound. We developed an automated landmark propagation pipeline using 3D motion-corrected, slice-to-volume reconstructed (SVR) fetal MRI for craniofacial measurements.MethodsA literature review and expert consensus identified 31 craniofacial biometrics for fetal MRI. An MRI atlas with defined anatomical landmarks served as a template for subject registration, auto-labelling, and biometric calculation. We assessed 108 healthy controls and 24 fetuses with Down syndrome (T21) in the third trimester (29-36 weeks gestational age, GA) to identify meaningful biometrics in T21. Reliability and reproducibility were evaluated in 10 random datasets by four observers.ResultsAutomated labels were produced for all 132 subjects with a 0.03% placement error rate. Seven measurements, including anterior base of skull length and maxillary length, showed significant differences with large effect sizes between T21 and control groups (ANOVA, p<0.001). Manual measurements took 25-35 minutes per case, while automated extraction took approximately 5 minutes. Bland-Altman plots showed agreement within manual observer ranges except for mandibular width, which had higher variability. Extended GA growth charts (19-39 weeks), based on 280 control fetuses, were produced for future research.ConclusionThis is the first automated atlas-based protocol using 3D SVR MRI for fetal craniofacial biometrics, accurately revealing morphological craniofacial differences in a T21 cohort. Future work should focus on improving measurement reliability, larger clinical cohorts, and technical advancements, to enhance prenatal care and phenotypic characterisation.

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Automated Craniofacial Biometry with 3D T2w Fetal MRI

Matthew,

Uus,

Collado

et al. 2024

Preprint

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Immediate postdelivery airway management of neonates with prenatally diagnosed micrognathia: A retrospective observational study

Berger,

Nelson,

Staben

et al. 2023

Pediatric Anesthesia

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IntroductionMicrognathic neonates are at risk for upper airway obstruction, and many require intubation in the delivery room. Ex‐utero intrapartum treatment is one technique for managing airway obstruction but poses substantial maternal risks. Procedure requiring a second team in the operating room is an alternative approach to secure the obstructed airway while minimizing maternal risk.The aim of this study was to describe the patient characteristics, airway management, and outcomes for micrognathic neonates and their mothers undergoing a procedure requiring a second team in the operating room at a single quaternary care children's hospital.MethodsThis was a retrospective descriptive study. Subjects had prenatally diagnosed micrognathia and underwent procedure requiring a second team in the operating room between 2009 and 2021. Collected data included infant characteristics, delivery room airway management, critical events, and medications. Follow‐up data included genetic testing and subsequent procedures within 90 days. Maternal data included type of anesthetic, blood loss, and incidence of transfusion.ResultsFourteen deliveries were performed via procedure requiring a second team in the operating room during the study period. 85.7% were male, and 50% had a genetic syndrome. Spontaneous respiratory efforts were observed in 93%. Twelve patients (85.7%) required an endotracheal tube or tracheostomy. Management approaches varied. Medications were primarily a combination of atropine, ketamine, and dexmedetomidine. Oxygen desaturation was common, and three patients experienced bradycardia. There were no periprocedural deaths. Follow‐up at 90 days revealed that 78% of patients underwent at least one additional procedure, and one patient died due to an unrelated cause.All mothers underwent cesarean deliveries under neuraxial anesthesia. Median blood loss was 700 mL [IQR 700 mL, 800 mL]. Only one mother required a blood transfusion for pre‐procedural placental abruption.DiscussionProcedure requiring a second team in the operating room is a safe and effective approach to manage airway obstruction in micrognathic neonates while minimizing maternal morbidity.ConclusionsThough shown to be safe and effective, more data are needed to support the use of procedure requiring a second team in the operating room as an alternative to ex‐utero intrapartum treatment for micrognathia outside of highly specialized maternal–fetal centers.

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Prenatal diagnosis of micrognathia: a systematic review

Cited by 2 publications

References 42 publications

Automated Craniofacial Biometry with 3D T2w Fetal MRI

Automated Craniofacial Biometry with 3D T2w Fetal MRI

Immediate postdelivery airway management of neonates with prenatally diagnosed micrognathia: A retrospective observational study

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