Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties

Montaguti, Elisa; Cariello, L.; Brunelli, Elena; Youssef, A.; Livi, Alessandra; Salsi, G.; Pilu, G.

doi:10.1080/14767058.2022.2050900

Cited by 5 publications

(6 citation statements)

References 31 publications

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“…Pertinent information and medical guidance, which serve as the foundation for shared decision-making, are key to providing "personalized medicine" to the families of patients affected by HPE that we encounter. This is also fundamental with the less common varieties, like the one we reported, since their recognition in the second trimester can be quite difficult compared to the severe varieties that are easily detected during first-trimester screening [20]. As expected, a great deal of parental anxiety is associated with HPE as there is no clear prognosis concerning the condition.…”

Section: Discussionmentioning

confidence: 69%

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly

Galeotti,

De Vincentiis,

Sitzia

et al. 2024

Children

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Holoprosencephaly is a complex human brain malformation resulting from incomplete cleavage of the prosencephalon into both hemispheres. Congenital nasal pyriform aperture stenosis (CNPAS) is sometimes found in patients with mild forms of holoprosencephaly. Surgical treatment is required. Low-invasive surgical approaches involve balloon dilation of the pyriform opening. We present the case of an 8-day-old girl diagnosed with holoprosencephaly, CNPAS, and the presence of a solitary median maxillary central incisor. Once examined by neonatologist, geneticist, pneumologist, otolaryngologist, and pediatric dentist, a combined otolaryngological–orthodontic approach was used. The obstruction of the right nasal cavity was treated by widening the nasal cavities and stabilizing them with a balloon dilation technique. After surgery, the respiratory space was increased by applying a neonatal palatal expander plate (NPEP) considering the palatal deformity: ogival shaped, anterior vertex growth direction, reduction of transverse diameters. The NPEP promoted distraction of the median palatine suture and assisted the nasal dilation. Therefore, after the insertion of NPEP, the physiological sucking–swallowing mechanism was activated. In infants with CNPAS, NPEP can be useful to ensure the safe stability of nasal dilation. A multidisciplinary approach is fundamental. In our experience, the close collaboration between an otolaryngologist and orthodontist is essential for the management of the patient with CNPAS.

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Section: Discussionmentioning

confidence: 69%

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly

Galeotti,

De Vincentiis,

Sitzia

et al. 2024

Children

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“…This study should be seen as a basis for clarifying the diagnostic criteria of pathologic changes in the presented structures, pathologies of migration (lissencephaly, polymicrogyria, early severe CMV infections [24]), dysplasia of the thalamus (mild forms of holoprosencephaly [2]) and dysplasia of the basal ganglia (polymicrogyria). After primary detection of abnormalities in transabdominal ultrasound experienced sonographers could in a second step by targeted transvaginal 3D ultrasound analyze the details of the prosencephalic structures to evaluate different pathologic entities.…”

Section: Discussionmentioning

confidence: 99%

“…Ganglion eminence is clearly presentable at 11 + 3 to 13 + 6 weeks of gestation as a dominant but transient structure of the brain development, origin of cell migration along the cerebral wall [1] and into the basal ganglia. The aim of this work is the precise description of the ultrasound image of GE and establishment of normal values opening the possibility to delineate normal development from pathological changes (disorders of migration of syndromic [2], genetic or infectious origin). In addition, norm values of the surrounding structures are generated enabling the differentiation of pathologies of the thalamus/hypothalamus, basal ganglia and third ventricle [3].…”

Section: Introductionmentioning

confidence: 99%

Development of the Prosencephalic Structures, Ganglionic Eminence, Basal Ganglia and Thalamus at 11+3 to 13+6 Gestational Weeks on 3D Transvaginal Ultrasound Including Normative Data

Altmann

Rechberger

Altmann

et al. 2023

Preprint

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Objectives: To show the development of ganglionic eminence, basal ganglia and thalamus/hypothalamus in week 11+3 to 13+6 by transvaginal 3D ultrasound. Methods: To visualize the prosencephalic structures surrounding the 3rd ventricle, 285 volume blocks from 402 fetuses examined were selected in a prospective transvaginal 3D study to compare ultrasound images of ganglionic eminence, basal ganglia, thalamus/hypothalamus with embryological sections. In addition, measurements of the described structures were made in 104 fetuses to quantify the embryological development. Results: The sonomorphologic characteristics of ganglionic eminence, basal ganglia and thalamus/ hypothalamus are described in 71 % of the fetuses examined. Measurements of the structures in 57% of the fetuses, show the following results: axGE ap = 0.17 + 0.112*CRL; axGE/I = 0.888 + 0.048*CRL; axGE/BG = 0.569 + 0.041*CRL; coGE/BG = 0.381 + 0.048*CRL; coTh lat = -0.002 + 0.135*CRL; coTh/HyT = 3.68 + 0.059*CRL; co3.V lat = 0.54 + 0.008*CRL Conclusion: Transvaginal 3D neurosonography allows visualization and measurement of normal structures in the fetal prosencephalon at 11+3 to 13+6 weeks of gestation including details of ganglionic eminence (GE), basal ganglia (BG), and thalamus/hypothalamus (Th/HyT). Further scientific work is needed before using the results to decide pathological changes in patients.

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“…4 In the particular case of lobar HPE, the less severe form, the diagnosis can be easily overlooked, even in the second trimester. 25 However, a detailed visualization of the anterior segment of the cerebral falx and the two anterior ventricular horns could help in the early detection of the lobar type. In our experience, a study involving almost 10 000 first-trimester scans, non-visualization of the butterfly sign allowed the detection of 100% of the cases of HPE.…”

Section: Step 1: Check the Craniummentioning

confidence: 99%

“…Additional signs of HPE should then be looked for, including fused thalami, absent anterior midline falx, and characteristic facial anomalies including cyclopia, hypotelorism, and a median cleft 4 . In the particular case of lobar HPE, the less severe form, the diagnosis can be easily overlooked, even in the second trimester 25 . However, a detailed visualization of the anterior segment of the cerebral falx and the two anterior ventricular horns could help in the early detection of the lobar type.…”

Section: Introductionmentioning

confidence: 99%

Basic sonographic examination of the fetal brain at 11–13 weeks' gestation: Rationale for a simple and reliable four‐step technique

Sepúlveda¹,

Garcia-Rodriguez

Martínez-Ten³

et al. 2023

J of Clinical Ultrasound

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The widespread incorporation of first‐trimester scanning between 11 and 13 weeks' gestation has shifted from the screening of chromosomal abnormalities, mainly by measuring nuchal translucency thickness and visualization of the nasal bone, to a more detailed study of the fetal anatomy leading to early detection of several structural congenital anomalies. This goal can be improved by the routine and focused sonographic assessment of specific anatomic planes and the identification of distinctive landmarks that can help disclosing a particular, non‐evident condition. In this article we present the basis for a basic, early examination of the fetal brain during screening using a four‐step technique, which can be readily incorporated during the first‐trimester scan. The technique includes the focused visualization of the cranial contour, choroid plexuses of the lateral ventricles and midline, aqueduct of Sylvius, brainstem, fourth ventricle, and the choroid plexus of the fourth ventricle. The rationale for this approach is presented and discussed.

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Sonography of fetal holoprosencephaly: a guide to recognize the lesser varieties

Cited by 5 publications

References 31 publications

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly

Development of the Prosencephalic Structures, Ganglionic Eminence, Basal Ganglia and Thalamus at 11+3 to 13+6 Gestational Weeks on 3D Transvaginal Ultrasound Including Normative Data

Basic sonographic examination of the fetal brain at 11–13 weeks' gestation: Rationale for a simple and reliable four‐step technique

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