Trisomy 18 and holoprosencephaly

Rosa, Rafael Fabiano Machado; Correia, Elisa Pacheco Estima; Bastos, Cristina Schetino; Silva, Gabriela S. da; Correia, Jamile Dutra; Rosa, Ernani Bohrer da; Silveira, Daniélle Bernardi; Targa, Luciano Vieira; Cunha, André Campos da; Zen, Paulo Ricardo Gazzola

doi:10.1002/ajmg.a.38129

Cited by 4 publications

(3 citation statements)

References 21 publications

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“…Cerebellar hypoplasia was observed in a fetus in our cohort. We also note middle interhemispheric variant of holoprosencephaly in fetus 6 as reported earlier (Rosa et al, 2017; Sharma et al, 2019). In addition, lumbo-sacral spina bifida was documented in fetus 7 on perinatal evaluation.…”

Section: Discussionsupporting

confidence: 82%

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Shravya,

Girisha,

Nayak

2023

Clinical Dysmorphology

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Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy. Appropriate fetal tissues were obtained to perform genomic testing. We observed trisomy 18 in 16 fetuses (2%) in our cohort of 784 fetal/neonatal losses and a perinatal autopsy was performed on all of them. Abnormal facial profile was the most frequent anomaly (10/16, 62%) followed by anomalies of the extremities (9/16, 56%), and cardiac defects (6/16, 37%). We also observed esophageal atresia, diaphragmatic hernia, and neural tube defect. The study represents one of the largest cohorts of trisomy 18 from a perinatal center from a developing country and highlights the clinical heterogeneity attributed to trisomy 18. We also report a recurrence of trisomy 18 in a family.

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Section: Discussionsupporting

confidence: 82%

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Shravya,

Girisha,

Nayak

2023

Clinical Dysmorphology

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“…Two cases with semilobar HPE (8%) had trisomy 18. However, HPE is an uncommon CNS manifestation in trisomy 18, which is more frequently associated with corpus callosum agenesis, hydrocephalus, Dandy‐Walker malformation, and cerebellar hypoplasia …”

Section: Discussionmentioning

confidence: 99%

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations

et al. 2020

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Objective: The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE).Methods: Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE.Results: The prevalence of HPE in high-risk pregnancies was 4.4:10 000. The alobar subtype was the most frequently encountered, with 17 cases (68%). Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex.Chromosomal abnormalities were detected in 11 cases (44%), the most frequent being trisomy 13 in seven cases (five alobar, one semilobar, and one lobar HPE), followed by trisomy 18 in two cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), −18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube defects were identified in 12% of cases. Conclusion:Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE.

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“…Holoprosencephaly is a less common CNS manifestation in trisomy 18. In a study of 14 fetuses with trisomy 18, only one (7.1%) had holoprosencephaly (Rosa et al, 2017). Petracchi et al in their study of 13,883 prenatal diagnoses, found 2 cases of trisomy 18 in 28 fetuses with holoprosencephaly (Petracchi et al, 2011).…”

Section: Syndromes Associated With Molecular Diagnosesmentioning

confidence: 98%

Syndromes associated with holoprosencephaly

Kruszka

Muenke

2018

American J of Med Genetics Pt C

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Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found. As most HPE is syndromic, this review provides a comprehensive list and description of syndromes associated with HPE that may be used as a differential diagnosis and starting point for evaluating individuals with HPE.

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Trisomy 18 and holoprosencephaly

Cited by 4 publications

References 21 publications

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations

Syndromes associated with holoprosencephaly

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