Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

Biard, Jean–Marc; Payrat, Stéphanie; Clapuyt, Philippe; Barréa, Catherine; Benoît, Valérie; Baldin, Paméla; Bernard, Pierre; Grambezen, Bénédicte Van; Sznajer, Yves

doi:10.1016/j.ejmg.2021.104189

Cited by 12 publications

(11 citation statements)

References 40 publications

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“…For the quantitative analysis, 40 articles [121, were secondarily excluded. Of these, three papers focused on fetal demises or stillbirths [256][257][258], three papers focused on information postmortem [242,250,254], three were case reports [238,246,252], five focused on a single specific phenotype [240,241,248,261,274], three presented inhomogeneity in inclusion criteria and chromosomal anomalies/CNV assessment [239,251,262], six included both fetuses and postnatal cases [244,249,253,259,260,269], three focused on candidate genes [243,247,263], three focused on recurrent phenotypes or previously described cohorts [245,255,272], five were excluded for the lack of inclusion or eligibility criteria [264,265,268,271,276], two were excluded for the higher a priori risk for consanguinity and recurrence [266,270], one because parents were tested for recessive disorders [267], two because they focused on gene panels [273,275], and one due to the postnatal diagnosis [121].…”

Section: Exome Sequencingmentioning

confidence: 99%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasound findings. Anomalies not fitting these definitions are categorized as “dynamic”. This meta-analysis aims to evaluate the diagnostic yield and the rates of variants of uncertain significance (VUSs) in fetuses undergoing molecular testing (chromosomal microarray (CMA), exome sequencing (ES), genome sequencing (WGS)) due to ultrasound findings. The CMA diagnostic yield was 2.15% in single soft markers (vs. 0.79% baseline risk), 3.44% in multiple soft markers, 3.66% in single structural anomalies and 8.57% in multiple structural anomalies. Rates for specific subcategories vary significantly. ES showed a diagnostic rate of 19.47%, reaching 27.47% in multiple structural anomalies. WGS data did not allow meta-analysis. In fetal structural anomalies, CMA is a first-tier test, but should be integrated with karyotype and parental segregations. In this class of fetuses, ES presents a very high incremental yield, with a significant VUSs burden, so we encourage its use in selected cases. Soft markers present heterogeneous CMA results from each other, some of them with risks comparable to structural anomalies, and would benefit from molecular analysis. The diagnostic rate of multiple soft markers poses a solid indication to CMA.

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Section: Exome Sequencingmentioning

confidence: 99%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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“…Un syndrome CHARGE doit e ´galement e ˆtre e ´voquer devant un aspect asyme ´trique des deux oreilles, associe ´a `une microtie avec impression d'oreille basse implante ´e [56,57]. La conque triangulaire, l'anthe ´lix proe ´minent, et le lobule absent donne l'aspect carre typique de ces enfants porteurs de ce syndrome, souvent associe ´s a des anomalies des CSC [58,59] (Fig. 17).…”

Section: Coeurunclassified

L’examen des oreilles en anténatal : quand, comment et pourquoi ?

Lesieur

Riccardi

Bault

et al. 2022

Gynécologie Obstétrique Fertilité & Sénologie

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“…It still is the most exhaustive option for karyotype assessment and can be indicated after risk calculation through prenatal ultrasound [5,7]. Previous studies have shown that syndromal diseases are often associated with outer ear malformations and suspect that prenatal ear screening may be helpful in predicting the risk for syndromes [2,[6][7][8][9][10][11][12][13][14][15][16]. Hereditary ear malformations can occur solitarily or as part of an underlying syndrome associated with other malformations [17].…”

Section: Introductionmentioning

confidence: 99%

“…The prevalences are 0.21 % for Down syndrome (Trisomy 21) and 0.05 % for Edwards syndrome (Trisomy 18) [1]. Early prenatal diagnosis allows adequate parental counseling and a timely decision about whether to continue the pregnancy [2] and is important for planning the birth and potential postnatal treatment [2,3]. Aside from ultrasound, the importance of noninvasive prenatal testing (NIPT) as a screening method for syndromes has increased in the past years [4].…”

Section: Introductionmentioning

confidence: 99%

3D ultrasound evaluation of fetal ears in prenatal syndrome diagnosis – a comparative study

Roosen,

Oelmeier,

Möllers

et al. 2024

Ultraschall Med

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Purpose The aim of the study was to assess fetal ears in prenatal 3D ultrasound and compare ear surface patterns and measurements between fetuses with syndromes and healthy fetuses. Materials and Methods Our study is based on 3D ultrasound images of 100 fetuses between the 20th and 37th week of gestation. We compared 50 ears of fetuses with syndromes (syndrome group) to 50 gestational age-matched ears of healthy fetuses (control group). The syndrome group consisted of fetuses with Trisomy 21 (n=13), Trisomy 18 (n=9) and other syndromes (n=28). The evaluation was based on measuring the ear length and width as well as developing categories to describe and compare different ear surface anomalies. Results Ears of fetuses with Trisomy 18 were averagely 0.423 cm smaller in length (P<0.001), 0.123 cm smaller in width (P=0.031) and grew averaged 0.046 cm less in length per week of gestation (P=0.027) than those of healthy fetuses. Ears of fetuses with Trisomy 21 differed from healthy fetuses regarding the form of the helix (P=0.013) and the ratio of the concha to the auricle (P=0.037). Syndromal fetuses demonstrated less ear surface details than their controls (syndrome group: P=0.018, P=0.005; other syndromes subgroup: P=0.020). We saw an increased richness of ear surface details at later gestational age both in syndromal and healthy fetuses. Conclusion Ears of fetuses with Trisomy 18 were smaller than their matched controls. Syndromal fetuses varied in the evaluation of their ear surface from those of healthy fetuses. The ear surface can be analyzed with 3D ultrasound and might be useful as a screening parameter in syndrome diagnosis in the future. ZUSAMMENFASSUNG Ziel Ziel unserer Studie war es Oberflächenmuster und Messwerte der Ohren syndromaler und gesunder Feten mithilfe pränatalen 3D-Ultraschalls zu bestimmen und zu vergleichen. Material und Methode Unsere Studie basiert auf 3D-Ultraschallbildern von 100 Feten zwischen der 20. und 37. Schwangerschaftswoche. Wir verglichen 50 Ohren syndromaler Feten (Syndromgruppe) mit 50 Ohren gleichaltriger gesunder Feten (Kontrollgruppe). Die Syndromgruppe bestand aus Feten mit Trisomie 21 (n=13), Trisomie 18 (n=9) und sonstigen Syndromen (n=28). Die Auswertung basierte auf der Messung der Ohrenlänge und -breite sowie der Entwicklung von Kategorien verschiedener Oberflächenanomalien. Ergebnisse Ohren von Feten mit Trisomie 18 waren durchschnittlich 0.423 cm kürzer (P<0.001), 0.123 cm schmaler (P=0.031) und wuchsen 0.046 cm pro Schwangerschaftswoche weniger in der Länge (P=0.027) als ihre Kontrollen. Ohren von Feten mit Trisomie 21 wichen gegenüber gesunden Feten in der Beurteilung der Helixform (P=0.013) und dem Verhältnis der Concha zur Ohrmuschel (P=0.037) ab. Das Detailreichtum der Ohrenoberfläche syndromaler Feten war gegenüber ihren Kontrollen erniedrigt (Syndromgruppe: P=0.018, P=0.005; sonstige Syndrome: P=0.020). Sowohl syndromale als auch gesunde Feten wiesen eine Zunahme des Detailreichtums der Ohrenoberfläche mit steigendem Gestationsalter auf. Schlussfolgerungen Ohren von Feten mit Trisomie 18 waren kleiner als die der Kontrollgruppe. Ohren von syndromalen Feten unterschieden sich in der Bewertung ihrer Oberfläche von gesunden Feten. Die Ohrenoberfläche kann im 3D-Ultraschall analysiert werden und könnte als Screening-Parameter in der Syndromdiagnostik hilfreich sein.

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Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature

Cited by 12 publications

References 40 publications

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

L’examen des oreilles en anténatal : quand, comment et pourquoi ?

3D ultrasound evaluation of fetal ears in prenatal syndrome diagnosis – a comparative study

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