Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome

Acanfora, Marta Maddalena; Stirnemann, J.; Marchitelli, G; Salomon, Laurent; Ville, Y.

doi:10.1002/uog.15672

Cited by 12 publications

(9 citation statements)

References 12 publications

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“…In a series of 40 fetuses with a CHARGE molecular diagnosis, common features were external ear anomalies, arhinencephaly, and semicircular canal agenesis . For the prenatal detection of arhinencephaly, fetal brain ultrasound can detect developing olfactory sulci from 24 weeks of gestation; by 26 weeks, all fetuses have detectable olfactory sulci, and after 28 weeks, all fetuses have completely formed olfactory sulci (Figure ) . By MRI, the olfactory bulbs may not be visualized until 30 weeks.…”

Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

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Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

“…(B) Ultrasound image of anterior coronal section of frontal lobe in a 32‐week fetus affected by CHARGE syndrome. The olfactory sulci are absent in the area in which they are normally observed later in pregnancy (modified from Acanfora et al)…”

Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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“…The median maternal and gestational age was 32 years [25][26][27][28][29][30][31][32][33][34][35][36][37][38][39] and 30 [24][25][26][27][28][29][30][31][32][33][34][35][36] weeks' gestation, respectively, at the time of MRI.…”

Section: Resultsmentioning

confidence: 99%

“…Abnormal development of olfactory sulci is a key feature of CS, even though it was classified as a minor criterion in Hale's classification. Ultrasonographic detection of arhinencephaly has been recently reported in literature but still requires highly experienced operators . MRI appears pertinent in the identification of bulbs in the coronal T2 plane and arises as an important tool for this criterion in diagnosing CS .…”

Section: Discussionmentioning

confidence: 99%

“…Renal anomalies were also found in four cases, including one operators. 29 MRI appears pertinent in the identification of bulbs in the coronal T2 plane 18 and arises as an important tool for this criterion in diagnosing CS. 8 The direct detection of the absence of semicircular canals may be subtle and difficult in fetal MRI, considering the limited spatial resolution, and it also requires expert skills.…”

Section: Other Mri Findingsmentioning

confidence: 99%

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Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

et al. 2019

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“CHARGE syndrome” (CS) is a multifaceted syndrome associated with a poor prognosis. The prenatal diagnosis remains challenging especially as the fetal anomalies that may evoke suspicion of CS are not comprehensively described. Objective This study aims to identify the anomalies in MRI with suspected CHARGE syndrome and to propose a possible standardization in the image‐based prenatal diagnosis of CS. Methods This was a retrospective study of 26 fetuses who underwent MRI and had a confirmed diagnosis of CS, as proven by histopathological and/or neonatal examinations and/or the presence of the CHD7 gene mutation. Results The three most frequent MRI anomalies confirmed at histopathological and/or neonatal examinations were arhinencephaly in 100% (26 of 26), dysplasia of the semicircular canals agenesis (SCA) in 100% (24 of 24), and posterior fossa anomalies in 100% (22 of 22). Our study also revealed short petrous bones with a particular triangular shape in 24 of 24 cases of SCA. Other relevant findings included external ear anomalies in 36% (9 of 25), cleft lip and palate (9 of 9), ventriculomegaly (VMG) (6 of 6), short corpus callosum (3 of 3), and ocular asymmetry in 36.6% (4 of 11). Conclusion Our study emphasizes the interest of fetal MRI in the diagnosis of CS with an adapted knowledge of semiology.

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ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography

Paladini

Malinger

Birnbaum

et al. 2021

Ultrasound in Obstet & Gyne

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ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography Clinical Standards Committee The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) is a scientific organization that encourages sound clinical practice, and high-quality teaching and research related to diagnostic imaging in women's healthcare. The ISUOG Clinical Standards Committee (CSC) has a remit to develop Practice Guidelines and Consensus Statements as educational recommendations that provide healthcare practitioners with a consensus-based approach, from experts, for diagnostic imaging. They are intended to reflect what is considered by ISUOG to be the best practice at the time at which they are issued. Although ISUOG has made every effort to ensure that Guidelines are accurate when issued, neither the Society nor any of its employees or members accepts any liability for the consequences of any inaccurate or misleading data, opinions or statements issued by the CSC. The ISUOG CSC documents are not intended to establish a legal standard of care, because interpretation of the evidence that underpins the Guidelines may be influenced by individual circumstances, local protocol and available resources. Approved Guidelines can be distributed freely with the permission of ISUOG (

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Ultrasound evaluation of development of olfactory sulci in normal fetuses: a possible role in diagnosis of CHARGE syndrome

Abstract: Objectives

Cited by 12 publications

References 12 publications

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals

ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography

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