scholarly journals Genetic Analyses in Small-for-Gestational-Age Newborns

2018 ◽  
Vol 103 (3) ◽  
pp. 917-925 ◽  
Author(s):  
Susanne E Stalman ◽  
Nita Solanky ◽  
Miho Ishida ◽  
Cristina Alemán-Charlet ◽  
Sayeda Abu-Amero ◽  
...  

Abstract 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.

2007 ◽  
Vol 92 (7) ◽  
pp. 2758-2763 ◽  
Author(s):  
Rikke Beck Jensen ◽  
Signe Vielwerth ◽  
Torben Larsen ◽  
Gorm Greisen ◽  
Henrik Leffers ◽  
...  

Abstract Context: A common polymorphism in the GH receptor (GHR) gene has been linked to increased growth response in GH-treated patients. No former study has focused on the association to prenatal growth. Objective: The aim of the study was to evaluate the association between the d3-GHR isoforms and spontaneous pre- and postnatal growth. Design: A prospective study was conducted on third-trimester fetal growth velocity (FGV), birth weight, birth length, and postnatal growth. Setting: The study was conducted at Copenhagen University Hospital. Participants: A total of 115 healthy adolescents were divided into those born small for gestational age (SGA) and appropriate for gestational age with or without intrauterine growth restriction. Main Outcome Measures: FGV was measured by serial ultrasonography, birth weight, birth length, and adolescent height. Isoforms of the d3-GHR gene (fl/fl, d3/fl, and d3/d3) were determined. Results: The prevalence of the d3-GHR isoforms was 50% but differed among the groups (P = 0.006), with a high prevalence (88%) in the group born SGA with verified intrauterine growth restriction. The d3-GRH allele were associated with decreased third-trimester FGV (P = 0.05) in SGA subjects. In the entire cohort, carriers of the d3-GHR allele had a significantly increased height (−0.10 vs. 0.34 sd score; P = 0.017) and change in height from birth to adolescence compared with carriers of the full-length GHR allele (0.57 vs. −0.02 sd score; P = 0.005). Conclusions: This study showed an increased spontaneous postnatal growth velocity in the carriers of the d3-GHR allele. Interestingly, we found the opposite effect on prenatal growth in the SGA group, with a decreased FGV in carriers of the d3-GHR allele.


2012 ◽  
Vol 19 (3) ◽  
pp. 115-122 ◽  
Author(s):  
Geraldine O’Sullivan

Hypertension is the most frequent medical complication of pregnancy. Pre-eclampsia is one of the main causes of maternal and fetal morbidity and mortality. Hypertension is the most common first sign of preeclampsia. Pre-eclampsia is also associated with fetal growth restriction, low birth weight, preterm delivery, small for gestational age infants and respiratory distress syndrome.


2021 ◽  
Vol 8 ◽  
Author(s):  
Muhammad Za'im Sahul Hameed ◽  
Rosnah Sutan ◽  
Zaleha Abdullah Mahdy ◽  
Azmi Mohd Tamil ◽  
Saperi Sulong

Adverse perinatal outcomes such as stillbirth, low birth weight and small for gestational age are still reported to be of high prevalence despite advanced healthcare technology and good quality hospital services in Malaysia. The purpose of this study is to create a model to evaluate individualized birth weight customized for maternal characteristics in a Malaysian population. Three phases are involved in designing the customized fetal growth chart (GROW-My). Baseline data is collected from previous pregnancies in the UKM Medical Centre from year 2010 to 2017. Specific maternal attributes were screened for its completeness and validity, namely maternal height and weight at booking, maternal ethnicity and parity, and the baby's birth weight, for all singleton pregnancies. The design and construction of a Malaysian customized fetal growth chart, Growth Related Optimal Weight (GROW-MY) was based on baseline birth data. The customized chart is used in the implementation phase for testing its feasibility, taking into consideration feedback from caregivers and patients before and after implementation. The current study provides staunch information and data regarding the needs and strategies for using maternal variables for estimating birth weight and the risk of being small for gestational age, in order to facilitate screening and appropriate management. With improved diagnosis of fetal growth restriction, medical care and treatment costs can be reduced.


2018 ◽  
pp. 184-195
Author(s):  
Minh Son Pham ◽  
Vu Quoc Huy Nguyen ◽  
Dinh Vinh Tran

Small for gestational age (SGA) and fetal growth restriction (FGR) is difficult to define exactly. In this pregnancy condition, the fetus does not reach its biological growth potential as a consequence of impaired placental function, which may be because of a variety of factors. Fetuses with FGR are at risk for perinatal morbidity and mortality, and poor long-term health outcomes, such as impaired neurological and cognitive development, and cardiovascular and endocrine diseases in adulthood. At present no gold standard for the diagnosis of SGA/FGR exists. The first aim of this review is to: summarize areas of consensus and controversy between recently published national guidelines on small for gestational age or fetal growth restriction; highlight any recent evidence that should be incorporated into existing guidelines. Another aim to summary a number of interventions which are being developed or coming through to clinical trial in an attempt to improve fetal growth in placental insufficiency. Key words: fetal growth restriction (FGR), Small for gestational age (SGA)


2021 ◽  
Vol 224 (2) ◽  
pp. S186
Author(s):  
Odessa P. Hamidi ◽  
Camille Driver ◽  
Tamara Stampalija ◽  
Sarah Martinez ◽  
Diana Gumina ◽  
...  

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1853
Author(s):  
María A. Reyes-López. ◽  
Carla P. González-Leyva ◽  
Ameyalli M. Rodríguez-Cano ◽  
Carolina Rodríguez-Hernández ◽  
Eloisa Colin-Ramírez ◽  
...  

A high-quality diet during pregnancy may have positive effects on fetal growth and nutritional status at birth, and it may modify the risk of developing chronic diseases later in life. The aim of this study was to evaluate the association between diet quality and newborn nutritional status in a group of pregnant Mexican women. As part of the ongoing Mexican prospective cohort study, OBESO, we studied 226 healthy pregnant women. We adapted the Alternated Healthy Eating Index-2010 for pregnancy (AHEI-10P). The association between maternal diet and newborn nutritional status was investigated by multiple linear regression and logistic regression models. We applied three 24-h recalls during the second half of gestation. As the AHEI-10P score improved by 5 units, the birth weight and length increased (β = 74.8 ± 35.0 g and β = 0.3 ± 0.4 cm, respectively, p < 0.05). Similarly, the risk of low birth weight (LBW) and small for gestational age (SGA) decreased (OR: 0.47, 95%CI: 0.27–0.82 and OR: 0.55, 95%CI: 0.36–0.85, respectively). In women without preeclampsia and/or GDM, the risk of stunting decreased as the diet quality score increased (+5 units) (OR: 0.62, 95%IC: 0.40–0.96). A high-quality diet during pregnancy was associated with a higher newborn size and a reduced risk of LBW and SGA in this group of pregnant Mexican women.


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