Clinical and Statistical Analysis of 549 Patients with Microtia

Baba, Shunkichi; Umeda, Keiko; Kitagaki, Toru; Okajima, H

doi:10.5631/jibirinsuppl1986.1991.supplement52_8

Cited by 2 publications

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“…Our study shows that the clinical manifestations of microtia and CHD comorbidity are highly heterogeneous. Consistent with previous studies, we found that microtia occurs more frequently in males and on the right side (unilateral) [ 32 , 33 , 34 ]. Nearly 60% of the patients were classified as having second-degree microtia.…”

Section: Discussionsupporting

confidence: 93%

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

Zhu

Yang

Pan

et al. 2023

Genes

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Microtia is a congenital malformation characterized by a small, abnormally shaped auricle (pinna) ranging in severity. Congenital heart defect (CHD) is one of the comorbid anomalies with microtia. However, the genetic basis of the co-existence of microtia and CHD remains unclear. Copy number variations (CNVs) of 22q11.2 contribute significantly to microtia and CHD, respectively, thus suggesting a possible shared genetic cause embedded in this genomic region. In this study, 19 sporadic patients with microtia and CHD, as well as a nuclear family, were enrolled for genetic screening of single nucleotide variations (SNVs) and CNVs in 22q11.2 by target capture sequencing. We detected a total of 105 potential deleterious variations, which were enriched in ear- or heart-development-related genes, including TBX1 and DGCR8. The gene burden analysis also suggested that these genes carry more deleterious mutations in the patients, as well as several other genes associated with cardiac development, such as CLTCL1. Additionally, a microduplication harboring SUSD2 was validated in an independent cohort. This study provides new insights into the underlying mechanisms for the comorbidity of microtia and CHD focusing on chromosome 22q11.2, and suggests that a combination of genetic variations, including SNVs and CNVs, may play a crucial role instead of single gene mutation.

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Section: Discussionsupporting

confidence: 93%

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

Zhu

Yang

Pan

et al. 2023

Genes

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“…Therefore, early diagnosis of microtia may aid in the discovery of concurrent malformations [ 5 , 6 ]. In addition, microtia in infants is always accompanied by conductive hearing loss on the affected side or both sides [ 3 , 7 , 8 ]. Hearing loss in only one ear can negatively affect future performance in school [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

The role of MRI in the prenatal diagnosis and classification of fetal microtia

et al. 2023

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Objective To investigate the role of MRI in the diagnosis and classification of fetal microtia. Methods Ninety-five fetuses with suspected microtia based on ultrasound and MRI performed within 1 week were enrolled in this study. The diagnosis based on MRI was compared with postnatal diagnosis. Among the microtia cases suspected on the basis of MRI, mild and severe cases were further classified. In addition, external auditory canal (EAC) atresia was evaluated by MRI in 29 fetuses with a gestational age > 28 weeks, and the accuracy of MRI in the diagnosis and classification of microtia was determined. Results Of 95 fetuses, 83 were considered to have microtia on the basis of MRI, 81 were confirmed to have microtia, and 14 were found to be normal according to postnatal diagnosis. Among 190 external ears in 95 fetuses, 40 ears were suspected to have mild microtia, and 52 ears were suspected to have severe microtia on the basis of MRI. According to the postnatal diagnosis, mild and severe microtia were confirmed in 43 and 49 ears, respectively. Among the 29 fetuses with a gestational age > 28 weeks, 23 ears were suspected to have EAC atresia according to MRI and 21 ears were ultimately confirmed to have EAC atresia. The accuracy of MRI in diagnosing microtia and EAC atresia was 93.68% and 93.10%, respectively. Conclusion MRI shows good performance in diagnosing fetal microtia and has the potential to evaluate its severity on the basis of classification and EAC status. Clinical relevance statement This study was aimed at investigating the role of MRI in the diagnosis and classification of fetal microtia. MRI shows good performance and can help evaluate microtia severity and EAC atresia, thus allowing for better clinical management. Key Points • MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate than ultrasound in diagnosing fetal microtia. • The accurate classification of fetal microtia and the diagnosis of external auditory canal atresia through MRI may help guide clinical management.

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Clinical and Statistical Analysis of 549 Patients with Microtia

Cited by 2 publications

References 0 publications

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect

The role of MRI in the prenatal diagnosis and classification of fetal microtia

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