Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings

Guibaud, Laurent; Collardeau‐Frachon, Sophie; Lacalm, Audrey; Massoud, Mona; Rossi, Massimiliano; Cordier, Marie Pierre; Vianey‐Saban, Christine

doi:10.1007/s10545-016-9992-3

Cited by 13 publications

(5 citation statements)

References 54 publications

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“…In addition, full-term neonates accounted for 90.9% (60/66) of all IEM cases in a Chinese NICU population with the ratio of full-term and premature infants as 1.72:1. Despite several IEMs are known to be associated with premature birth (Carrillo-Carrasco et al, 2012) (Vianey-Saban et al, 2016) (Guibaud et al, 2017), no direct association between IEMs and premature birth can be concluded when reviewing the clinical history of all six cases of premature in our study.…”

Section: Discussioncontrasting

confidence: 66%

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit

et al. 2020

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Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units (NICUs). However, the integrative analysis of the incidence for full-term and premature neonates of IEMs in NICUs have not been reported. In this study, we aimed to estimate the incidence of IEMs in the NICU population so as to better evaluate the impact of IEMs on Chinese NICUs. A total of 42,257 newborns (proportion of premature as 36.7%) enrolled to the largest Chinese NICU center for a sequential 7 years screen, and 66 were diagnosed with IEMs. The prevalence of IEMs in total, full-term, and premature infants was 1:640, 1:446, and 1:2,584, respectively. In spectrum of our NICU, diseases that cause endogenous intoxication like methylmalonic acidemia accounted for 93.9% (62/66), and this ratio was higher in full-term infants with 98.3% (59/60), while the most prevalent disease in premature newborn was hyperphenylalaninemia (50%, 3/6), respectively. The genetic analysis of 49 cases revealed 62 potentially pathogenic mutations in 10 well-documented pathogenic genes of IEMs, among which 21 were novel. In conclusion, differences in incidence and spectrum of full-term and premature births we obtained in NICU will provide diagnostic guidelines and therapeutic clues of neonatal IEMs for pediatricians. Keywords: newborn screening, neonatal intensive care unit, inborn errors of metabolism, incidence of inborn errors of metabolism, spectrum of genes and mutations

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Section: Discussioncontrasting

confidence: 66%

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit

et al. 2020

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“…LOD was suspected by referring physicians in the presence of brain and/or limb overgrowth, including in cases of isolated MEG and in cases of (H)MEG and/or limb overgrowth and vascular malformation (clinical criteria defined below). We did not include cases in which a pathogenic copy number variant was identified by chromosomal microarray analysis or cases with a Mendelian disorder, including inborn errors of metabolism in fetuses affected by MEG [36][37][38][39] . All fetuses meeting our inclusion criteria for which we received samples during the study period were included.…”

Section: Study Design and Subjectsmentioning

confidence: 99%

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway

Bourgon

Carmignac

Sorlin

et al. 2022

Ultrasound in Obstet & Gyne

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diagnosis of congenital abnormality and suspicion of a localized overgrowth disorder (LOD) suggestive of genetic variants in the PI3K-AKT-mTOR signaling pathway. MethodsWe analyzed retrospectively data obtained between 1 January 2013 and 1 May 2020 from fetuses with brain and/or limb overgrowth referred for molecular diagnosis of PI3K-AKT-mTOR pathway genes by next-generation sequencing (NGS) using pathological tissue obtained by fetal autopsy. We also assessed the diagnostic yield of amniotic fluid. ResultsDuring the study period, 21 subjects with LOD suspected of being secondary to a genetic variant of the PI3K-AKT-mTOR pathway were referred for analysis. Of these, 17 fetuses had brain overgrowth, including six with isolated megalencephaly (MEG) and 11 with hemimegalencephaly (HMEG). Of the six with MEG, germline variants were identified in four cases, in either PIK3R2, AKT3 or MTOR, and a postzygotic PIK3R2 variant was found in the other two cases. Of the 11 with HMEG, a postzygotic PIK3CA variant was found in three fetuses with extracerebral features of PIK3CA-related overgrowth spectrum, and in seven fetuses with isolated

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“…Prenatal manifestations of Inborn error of metabolism (IEM) includes hydrops fetalis, structural brain anomalies such as gyration anomalies, polymicrogyria, cobblestone lissencephaly, hyperechoic kidneys, intrauterine growth retardation (IUGR), stippling and dysostosis [4]. Hyperechoic kidneys may represent a large group of disorders including autosomal recessive and dominant polycystic kidney disease (AR/ADPKD), aneuploidies, other rare syndromes like Beckwith syndrome, Joubert syndrome and several metabolic disorders including peroxismal disorders, carnitine palmitoyltransferase II deficiency (CPT2) and other disorders as listed in Table 1 [5].…”

Section: Discussionmentioning

confidence: 99%

Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report

Yadav

Kabra

Gupta

2019

Journal of Fetal Medicine

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Antenatally diagnosed echogenic kidneys have several underlying etiologies such as aneuploidies, monogenic isolated or syndromic polycystic kidney disease, infections and rarely with inborn error of metabolism. Even a careful evaluation for additional abnormalities may not be able to provide a specific diagnosis. However with next generation sequencing, the diagnostic odyssey can be ended successfully. We report one such case of carnitine palmitoyltransferase II deficiency (CPT2) deficiency that manifested as isolated echogenic kidneys with early neonatal demise where successful early prenatal diagnosis was possible in the subsequent pregnancy.

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Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings

Cited by 13 publications

References 54 publications

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit

A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway

Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report

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