Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging

Chen, C.-P.; Wang, K.-G.; Huang, Jon Kway; Chang, Tung-Yao; Lin, Yun-Nan; Chin, Daniel; Tzen, Chin‐Yuan; Wang, W.

doi:10.1002/uog.135

Cited by 27 publications

(11 citation statements)

References 11 publications

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“…Germline mosaicism and/or variable penetrance render the prediction of recurrence risk difficult in monogenic microphthalmic individuals, however, molecular genetic studies for known variants are possible on amniotic fluid foetal cells withdrawn after 14 weeks of gestation or on chronic villus sampling at 10-12 weeks gestation, and can facilitate the diagnosis of microphthalmia. In addition, transvaginal ultrasonography enables the detection of microphthalmia from 12 weeks gestation [74]; the maximal coronal or axial planes of the orbit are measured, and compared with established eye growth charts [63].…”

Section: Does a Positive Genetic Test Results In The Index Patient Enamentioning

confidence: 99%

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

Eintracht¹,

Cortón

FitzPatrick

et al. 2020

Eur J Hum Genet

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Section: Does a Positive Genetic Test Results In The Index Patient Enamentioning

confidence: 99%

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

Eintracht¹,

Cortón

FitzPatrick

et al. 2020

Eur J Hum Genet

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“…MRI imaging has been shown to improve diagnosis in two cases of otocephaly [16,17] . Conversely, Umekawa et al [8] did not succeed in getting clear images with MRI in a case of agnathia, whereas three-dimensional ultrasound permitted diagnosis using both a multiplaner and a rendering mode.…”

Section: Discussionmentioning

confidence: 99%

Take a Look at the CHIN! – Early Diagnosis of Isolated Agnathia Using Two- and Three-Dimensional Sonography

Huissoud¹,

Jumel²,

Bisch³

et al. 2008

Fetal Diagn Ther

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Agnathia is a very rare malformation characterized by the absence of the mandible, which occurs either as an isolated malformation or in association with other deformities. We report the first case of an isolated agnathia diagnosed at 12 weeks due to the absence of the chin; the case was diagnosed using two- and three-dimensional ultrasonography and was confirmed by pathological analysis after the pregnancy was medically terminated at 17 weeks. Usually, isolated agnathia is a lethal malformation and its prenatal diagnosis is often delayed beyond the second trimester of pregnancy. We therefore suggest a systematic ‘look at the CHIN’, i.e. Chin, Headbone outlines (skull and nasal bones), Inner head, Nuchal translucency, using the sagittal view of the cephalic pole at 12 weeks.

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“…Several cases have made the use of 3D or 4D ultrasonography, as well as fetal magnetic resonance imaging to diagnose this syndrome. 23,24 Many were found incidentally through careful examination because of other existing pathology. 25,26 This mother had ultrasonography at 10 weeks of gestation and during labor.…”

Section: Medical Knowledgementioning

confidence: 99%

Otocephaly Complex

et al. 2016

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Otocephaly complex is a rare and usually lethal syndrome characterized by a set of malformations consisting of microstomia, mandibular hypoplasia/agnathia, and ventromedial malposition of the ears. Those cases that have been diagnosed prenatally have used an ex utero intrapartum treatment procedure to establish a definitive airway. However, prenatal diagnosis continues to be challenging, primarily because of poor diagnostic sensitivity associated with ultrasonography. We present a case of a newborn with an unanticipated otocephaly complex requiring emergent airway management. In this report, we discuss the medical and ethical issues related to the care of a newborn with this frequently fatal condition.

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Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging

Cited by 27 publications

References 11 publications

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

Take a Look at the CHIN! – Early Diagnosis of Isolated Agnathia Using Two- and Three-Dimensional Sonography

Otocephaly Complex

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