Prenatal Diagnosis of Craniomaxillofacial Malformations: A Characterization of Phenotypes in Trisomies 13, 18, and 21 by Ultrasound and Pathology

Ettema, Anke M.; Wenghoefer, Matthias; Hansmann, M.; Carels, Carine; Borstlap, W.A.; Bergé, Stefaan

doi:10.1597/08-285.1

Cited by 7 publications

(2 citation statements)

References 31 publications

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“…In fact, compared with Trisomy 18 and Trisomy 21, Trisomy 13 was found to be highly associated with craniomaxillofacial malformations. This was confirmed, through prenatal sonographic imaging, by Ettema [37], as particularly evident in cleft deformities (76.9%). Similarly, Tolarova, Shaw and Genisca [9, 12, 22], reported a congruous higher rate of clefts, mostly CL/P, in infants with Trisomy 13.…”

Section: Discussionmentioning

confidence: 56%

RETRACTED ARTICLE: Epidemiological characteristic of Orofacial clefts and its associated congenital anomalies: retrospective study

Impellizzeri

Giannantoni²,

Polimeni

et al. 2019

BMC Oral Health

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BackgroundTo evaluate the relationship between gender, ethnicity/citizenship, clinical phenotype, total prevalence, and the various congenital malformations associated with oral clefts (OC) in Italy across the period 2001–2014.MethodsA retrospective analysis (2001–2014) was conducted based on the National Congenital Malformation Registries network of Italy (Emilia-Romagna Registry of Birth Defects [IMER] and Registro Toscano Difetti Congeniti [RTDC]), which were analyzed to investigate time trends, geographical/ethnic clusters, topography, sex ratio, and associated congenital anomalies of OC phenotypes.ResultsAmong 739 registered cases, 29.8% were syndromic or had multi-malformed associated anomalies, compared with 70.2% having isolated orofacial cleft. Cleft lip (CL) was observed in 22%, cleft palate (CP) in 40%, and cleft lip and palate (CLP) in 38% of live births, stillbirths, and terminations of pregnancy for fetal anomaly cases. Other associated conditions were major anomalies of cardiovascular defects (39%), followed by defects of the limbs (28%), neuroectodermal defects (23%), and urogenital malformations (10%).Male-to-female sex ratio was 1:1.14 in CP, 1.22:1 in CL, and 1.9:1 in CLP. Foreigners were represented by 29% from Southeast Asia, 25% from Balkans, 25% from North-Central Africa, 9% from the East, 7% from Western Europe, and 5% from South America. Total prevalence of OC cases ranged from 0.9 (RTDC) to 1.1 (IMER) of 1000 births.ConclusionsThis retrospective study provides a population-based, clinical-epidemiological description of the orofacial cleft phenomenon. As a relatively frequent congenital malformation, its social and economic impact is worthy of further study. These abnormalities can cause significant problems that may be solved or minimized by early diagnosis and treatment.

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Section: Discussionmentioning

confidence: 56%

RETRACTED ARTICLE: Epidemiological characteristic of Orofacial clefts and its associated congenital anomalies: retrospective study

Impellizzeri

Giannantoni²,

Polimeni

et al. 2019

BMC Oral Health

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“…Although fetal external ear abnormalities belong to minor physical anomalies, developmental anomalies of the external ear are still be found in some genetic diseases such as trisomy 21 and trisomy 18 [26–29]. Previous studies have confirmed that anomalous, low-set, and malformed ears are one of the common symptoms of chromosomal abnormalities; for instance, ear abnormalities are often linked with trisomy 9 (chromosome 9 abnormality), Edwards syndrome/trisomy 18 (chromosome 18 abnormality), Patau syndrome (chromosome 13 abnormality), Down syndrome (chromosome 21 abnormality), Cri du chat/chromosome 5q deletion syndrome, CHARGE (chromosome 8 abnormality), trichorhinophalangeal syndrome, Type 1 (chromosome 8 abnormality), Beckwith-Wiedemann (chromosome 11 abnormality), Jacobsen syndrome (chromosome 11 abnormality), Smith-Magenis syndrome (chromosome 17 abnormality), Emanuel syndrome (chromosome 11 and/or 22 abnormality), Turner syndrome (chromosome XO or mosaic XX/X0 abnormality), Triple X syndrome (chromosome 49 and/or XXXXX abnormality), and so forth [30] (see Table 2).…”

Section: Discussionmentioning

confidence: 99%

Prenatal Ultrasound Screening for External Ear Abnormality in the Fetuses

Wei

Ran

Yang

et al. 2014

BioMed Research International

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Objectives. To investigate the best time of examination and section chosen of routine prenatal ultrasound screening for external ear abnormalities and evaluate the feasibility of examining the fetal external ear with ultrasonography. Methods. From July 2010 until August 2011, 42118 pregnant women with single fetus during 16–40 weeks of pregnancy were enrolled in the study. Fetal auricles and external auditory canal in the second trimester of pregnancy were evaluated by routine color Doppler ultrasound screening and systematic screening. Ultrasound images of fetal external ears were obtained on transverse-incline view at cervical vertebra level and mandible level and on parasagittal view and coronal view at external ear level. Results. Five fetuses had anomalous ears including bilateral malformed auricles with malformed external auditory canal, unilateral deformed external ear, and unilateral microtia. The detection rate of both auricles was negatively correlated with gestational age. Of the 5843 fetuses undergoing a routine ultrasound screening, 5797 (99.21%) had bilateral auricles. Of the 4955 fetuses following systematic screening, all fetuses (100%) had bilateral auricles. The best time for fetal auricles observation with ultrasonography is 20–24 weeks of pregnancy. Conclusions. Detection of external ear abnormalities may assist in the diagnosis of chromosomal abnormalities.

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Facial profile markers in second‐ and third‐trimester fetuses with trisomy 18

Vos

Jong-Pleij

Bakker

et al. 2015

Ultrasound in Obstet & Gyne

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Prenatal Diagnosis of Craniomaxillofacial Malformations: A Characterization of Phenotypes in Trisomies 13, 18, and 21 by Ultrasound and Pathology

Abstract: Facial anomalies are common in the major trisomies, and their prenatal sonographic identification should be improved. The above-mentioned facial anomalies provide sufficient reason to consider performing cytogenic evaluation.

Cited by 7 publications

References 31 publications

RETRACTED ARTICLE: Epidemiological characteristic of Orofacial clefts and its associated congenital anomalies: retrospective study

RETRACTED ARTICLE: Epidemiological characteristic of Orofacial clefts and its associated congenital anomalies: retrospective study

Prenatal Ultrasound Screening for External Ear Abnormality in the Fetuses

Facial profile markers in second‐ and third‐trimester fetuses with trisomy 18

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