The NextGen Study: patient motivation for participation in genome sequencing for carrier status

ConclusionGenomic carrier testing may need to be offered to women prior to active pregnancy efforts to be useful for reproductive planning. Most preconception women reported that obtaining general health information from genome sequencing was their primary motivator for being in the study, even though they were recruited to join a study to learn more about carrier status. Forty‐two percent of enrolled women became pregnant prior to obtaining sequencing results. Genomic carrier testing may need to be offered to women prior to active pregnancy efforts to be useful for reproductive planning.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research

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Background: Toxic stress resulting from childhood abuse can lead to poorer physical and mental health for pregnant women and their unborn children. To provide a clinical response to these experi...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news
Authors: Ito J, Fujii H, Kono K, Goto S, Nishi S Abstract We encountered a pregnant hemodialysis patient with severe hyperparathyroidism (HPT). Although her disease was considered to be refractory to medical treatment, the serum intact parathyroid hormone (PTH) level remarkably improved without manifestation of hypercalcemia through only strict serum phosphorus control, mainly via intensification of dialysis. The very strong correlation between the serum phosphorus level and serum intact PTH level suggested the possibility of secondary HPT. She ultimately gave birth to a healthy baby. The clinical course of the pat...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Conclusion: The proposed method could be used to determine the efficient EHG segments for recognizing UC with the CNN. PMID: 31737659 [PubMed - in process]
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Applied Physiology, Nutrition, and Metabolism, e-First Articles. Gestational fructose exposure has detrimental health consequences on both the maternal and fetus or offspring in the early or later life, contributing to epidemic rise in cardiometabolic syndrome including cardiac events. l-Glutamine has been shown to mitigate cardiac metabolic stress. However, the effect of l-glutamine on cardiac hypertrophy induced by gestational fructose exposure is not known. We therefore hypothesized that l-glutamine would prevent gestational fructose-induced cardiac hypertrophy, possibly by suppression of pyruvate dehydrogenase kinase-4...
Source: Applied Physiology, Nutrition, and Metabolism - Category: Physiology Authors: Source Type: research
Publication date: Available online 18 November 2019Source: Trends in GeneticsAuthor(s): Heini Natri, Angela R. Garcia, Kenneth H. Buetow, Benjamin C. Trumble, Melissa A. Wilson
Source: Trends in Genetics - Category: Genetics & Stem Cells Source Type: research
This study investigates the influence of maternal age on birth procedure, gestational age, and rate of interventions during delivery. The influence of maternal parity is also analyzed. Material and Methods Data from the Austrian Register of Births was retrospectively collected and evaluated. The collected data was the data of all singleton live births in Austria between January 1, 2008 and December 31, 2016 (n = 686 272). Multiple births and stillbirths were excluded from the study. Maternal age and parity were analyzed in relation to predefined variables (birth procedure, gestational age, episiotomy in cas...
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
This study investigated the impact of including fetal growth parameters in the monitoring of pregnant women with type 1 diabetes mellitus. Patients/Method 199 pregnant women with type 1 DM were included in a cohort study. The patient population was divided into two study cohorts. In the mBG cohort (n = 94; investigation period: 1994 - 2005) treatment was monitored using only maternal blood glucose (mBG) values; the aim was to achieve standard target glucose values (mean BG
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
The objective of this study is the generation of descriptive data on the mode of delivery and on maternal and foetal complications in the case of foetal macrosomia. The causes and consequences of foetal macrosomia as well as the rate of shoulder dystocia are examined in relation to the severity of the macrosomia. Patients The study investigated all singleton births ≥ 37 + 0 weeks of pregnancy with a birth weight ≥ 4000 g at the Charité University Medicine Berlin (Campus Mitte 2001 - 2017, Campus Virchow Klinikum 2014 - 2017). Results 2277 consecutive newborns (birth w...
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
Authors: Weschenfelder F, Lehmann T, Schleussner E, Groten T Abstract Introduction The birth of a large for gestational age (LGA) infant is a significant risk factor for birth complications and maternal morbidity and an even higher risk factor for offspring obesity, metabolic syndrome and cardiovascular disease in later life. Relevant factors affecting the risk of delivering an LGA infant are maternal pre-gravid obesity, excessive gestational weight gain exceeding the recommendations of the Institute of Medicine (IOM) and diabetes in pregnancy. We aimed to determine what matters most in terms of the risk of fetal o...
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
Authors: Brodowski L, Büter W, Kohls F, Hillemanns P, von Kaisenberg C, Dammann O Abstract Maternal overweight and obesity are prenatal risk factors for obstetrical complications, preterm birth, neonatal morbidity as well as cognitive and behavioural developmental disorders in children. Paediatric morbidity and mortality as well as child development disorders are significantly associated with maternal obesity. Particularly in the neurodevelopmental and psychiatric area, it is becoming increasingly clear that, in children of mothers with an increased body mass index (BMI), there is a high correlation with child...
Source: Geburtshilfe und Frauenheilkunde - Category: OBGYN Tags: Geburtshilfe Frauenheilkd Source Type: research
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