La trisomie 18 ou syndrome d´Edwards en post-natal: étude descriptive au Centre Hospitalière Universitaire de Casablanca et revue de littérature

Outtaleb, Fatima Zahra; Errahli, Rachida; Imelloul, Nora; Jabrane, G.; Serbati, Nadia; Dehbi, Hind

doi:10.11604/pamj.2020.37.309.26205

Cited by 6 publications

(8 citation statements)

References 9 publications

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“…Batees et al ., 2014, and Outtaleb et al, 2020 observed female predominance in comparison to males with trisomy 18 with a ratio of almost 1 male to 2 females (Batees and Altirkawi, 2014; Outtaleb et al, 2020). Rosa et al, 2013b report that girls with trisomy 18 have more chances of being born alive and surviving longer than boys (Rosa et al ., 2013a; Rosa et al, 2013b).…”

Section: Discussionmentioning

confidence: 99%

“…An abnormal facial profile is a typical characteristic finding of trisomy 18 (Outtaleb et al, 2020). The most usual findings reported in the literature were prominent occiput, enlarged fontanels, microcephaly, triangular-shaped face, high forehead, narrow palpebral fissures, small nose and mouth, cleft lip and palate, high palate, choanal atresia, hypoplastic/dysmorphic ears, and micrognathia; less frequent anomalies reported were wormian bones and eye anomalies (Rosa et al ., 2013a; Rosa et al, 2013b).…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…Death is primarily due to cardio-respiratory failure (Batees and Altirkawi, 2014). The prominent characteristic traits include craniofacial features, distinctive hand postures like overriding fingers, nail hypoplasia, short phallus, short sternum, and major malformations comprising the heart, upper respiratory tract, and kidneys (Chen, 2005;Nayak et al, 2015;Roberts et al, 2016;Outtaleb et al, 2020). Rarely, mosaicism of trisomy 18 is seen with an extremely variable phenotype (Chen, 2005) Trisomy 18 can present with a varying degree of complex, severe and heterogenous clinical phenotypes involving multiple organ systems with more than 100 different anomalies reported in the literature in the prenatal to postnatal period; along with the high mortality rate which makes the understanding of syndrome pattern quite challenging (Rosa et al, 2013a;Rosa et al, 2013b).…”

Section: Introductionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Shravya,

Girisha,

Nayak

2023

Clinical Dysmorphology

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“…Associated congenital anomalies include midline defects (cleft lip/palate), renal anomalies, congenital heart disease, and inguinal and umbilical hernia. Among affected children, 75-95% of die in the first year of life, most often as a result of complex congenital heart defects and structural brain defects [3][4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome

Sosnowska-Sienkiewicz,

Kamińska,

Anderko

et al. 2024

Genes

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The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far. It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have life-threatening cardiac or other severe defects. Due to the prematurity of our patient and the defects associated with Edwards syndrome, the child required constant multidisciplinary care, but Edwards syndrome itself was not a reason to discontinue therapy for a malignant neoplasm of the liver. Regular abdominal ultrasound examination, along with AFP testing, may be helpful in the early detection of liver tumors in children with Edwards syndrome

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Liveborn children with trisomy 18: A scoping review

Schlosser,

MacPherson,

Castro-Codesal

et al. 2024

Journal of Neonatal-Perinatal Medicine

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Background There have been an increasing number of publications related to trisomy 18 associated with a shift in the philosophy of care. The objective of this review is to understand the scope of contemporary literature informing the care of children born alive with trisomy 18. Methods Included was peer-reviewed, primary literature in MEDLINE, Embase, CINAHL, Scopus, Web of Science, and Cochrane Library from 2012 to 2023 reporting outcomes of children born alive with trisomy 18. Data extraction involved descriptive statistics of the types of studies, and an inductive thematic analysis of the questions addressed by the studies. Results Of 4628 records identified, 229 met inclusion criteria. Key themes were organized around the domains: What is trisomy 18? What are the chances of survival with trisomy 18? What can be done to improve the chances of survival with trisomy 18? How do children with trisomy 18 die? Do surgical interventions provide a benefit? Are there non-surgical options? What knowledge is informing medical management? How is life described for children with trisomy 18? What are children with trisomy 18 like as babies and as they get older? What is life like for families caring for children with trisomy 18? Conclusions A sizeable number of publications grouped trisomy 18 with other syndromes. Relatively few showed the longitudinal evolution of medical issues associated with trisomy 18, nor did they unfold the clinical heterogeneity of this population. This review shows the limited knowledge base guiding decision-making and care for children born alive with trisomy 18.

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La trisomie 18 ou syndrome d´Edwards en post-natal: étude descriptive au Centre Hospitalière Universitaire de Casablanca et revue de littérature

Cited by 6 publications

References 9 publications

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

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

Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome

Liveborn children with trisomy 18: A scoping review

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