The Journal of clinical endocrinology and metabolism · 2018
Genetic Analyses in Small-for-Gestational-Age Newborns.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Stalman Susanne E, Solanky Nita, Ishida Miho, Alemán-Charlet Cristina, Abu-Amero Sayeda, Alders Marielle, Alvizi Lucas, Baird William, Demetriou Charalambos, Henneman Peter, James Chela, Knegt Lia C, Leon Lydia J, Mannens Marcel M A M, Mul Adi N, Nibbering Nicole A, Peskett Emma, Rezwan Faisal I, Ris-Stalpers Carrie, van der Post Joris A M, Kamp Gerdine A, Plötz Frans B, Wit Jan M, Stanier Philip, Moore Gudrun E, Hennekam Raoul C
Аннотация
CONTEXT: Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood.
OBJECTIVE: The aim of the current study was to gain more insight into prenatal growth failure and determine an effective diagnostic approach in SGA newborns. We hypothesized that one or more copy number variations (CNVs) and disturbed methylation and sequence variants may be present in genes associated with fetal growth.
DESIGN: A prospective cohort study of subjects with a low birth weight for gestational age.
SETTING: The study was conducted at an academic pediatric research institute.
PATIENTS: A total of 21 SGA newborns with a mean birth weight below the first centile and a control cohort of 24 appropriate-for-gestational-age newborns were studied.
INTERVENTIONS: Array comparative genomic hybridization, genome-wide methylation studies, and exome sequencing were performed.
MAIN OUTCOME MEASURES: The numbers of CNVs, methylation disturbances, and sequence variants.
RESULTS: The genetic analyses demonstrated three CNVs, one systematically disturbed methylation pattern, and one sequence variant explaining SGA. Additional methylation disturbances and sequence variants were present in 20 patients. In 19 patients, multiple abnormalities were found.
CONCLUSION: Our results confirm the influence of a large number of mechanisms explaining dysregulation of fetal growth. We concluded that CNVs, methylation disturbances, and sequence variants all contribute to prenatal growth failure. These genetic workups can be an effective diagnostic approach in SGA newborns.
OBJECTIVE: The aim of the current study was to gain more insight into prenatal growth failure and determine an effective diagnostic approach in SGA newborns. We hypothesized that one or more copy number variations (CNVs) and disturbed methylation and sequence variants may be present in genes associated with fetal growth.
DESIGN: A prospective cohort study of subjects with a low birth weight for gestational age.
SETTING: The study was conducted at an academic pediatric research institute.
PATIENTS: A total of 21 SGA newborns with a mean birth weight below the first centile and a control cohort of 24 appropriate-for-gestational-age newborns were studied.
INTERVENTIONS: Array comparative genomic hybridization, genome-wide methylation studies, and exome sequencing were performed.
MAIN OUTCOME MEASURES: The numbers of CNVs, methylation disturbances, and sequence variants.
RESULTS: The genetic analyses demonstrated three CNVs, one systematically disturbed methylation pattern, and one sequence variant explaining SGA. Additional methylation disturbances and sequence variants were present in 20 patients. In 19 patients, multiple abnormalities were found.
CONCLUSION: Our results confirm the influence of a large number of mechanisms explaining dysregulation of fetal growth. We concluded that CNVs, methylation disturbances, and sequence variants all contribute to prenatal growth failure. These genetic workups can be an effective diagnostic approach in SGA newborns.