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https://www.readbyqxmd.com/read/28697118/finding-middle-ground-in-constructing-a-clinically-useful-expanded-carrier-screening-panel
#1
Blair Stevens, Nevena Krstic, Malorie Jones, Lauren Murphy, Jennifer Hoskovec
Expanded carrier screening for autosomal-recessive conditions effectively identifies more carrier couples than traditional guideline-based carrier screening. However, clinically available expanded carrier screening panels include numerous conditions, some of which have questionable clinical utility as a result of very low carrier frequency, low or unknown testing sensitivity, and mild or incompletely penetrant phenotypes. Using the 2013 American College of Medical Genetics and Genomics Position Statement on Prenatal and Preconception Expanded Carrier Screening and the 2017 American College of Obstetricians and Gynecologists' Committee Opinion on Carrier Screening in the Age of Genomic Medicine as guidance, we propose specific criteria for the development of expanded carrier screening panels that will maximize clinical utility and minimize patient stress, unnecessary cost of follow-up testing, and clinician time spent facilitating and performing follow-up counseling and testing...
July 7, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28694019/opportunities-to-reduce-diabetes-risk-in-women-of-reproductive-age-assessment-and-treatment-of-prediabetes-within-a-large-integrated-delivery-system
#2
Cassondra Marshall, Sara Adams, Wendy Dyer, Julie Schmittdiel
BACKGROUND: Preventing diabetes before pregnancy may be important to improve maternal and infant outcomes. Although the preconception period is a crucial time to focus on chronic disease prevention, little is known about preventive services for reproductive-aged women at risk of developing diabetes. METHODS: Using electronic health record data from patients at Kaiser Permanente Northern California, we identified 21,965 nonpregnant women aged 18 to 44 with incident prediabetes (PDM; fasting plasma glucose [FPG] = 100-125 or glycated hemoglobin A1c = 5...
July 7, 2017: Women's Health Issues: Official Publication of the Jacobs Institute of Women's Health
https://www.readbyqxmd.com/read/28688924/healthy-preconception-nutrition-and-lifestyle-using-personalized-mobile-health-coaching-is-associated-with-enhanced-pregnancy-chance
#3
Matthijs R van Dijk, Maria P H Koster, Sten P Willemsen, Nicole A Huijgen, Joop S E Laven, Régine P M Steegers-Theunissen
Periconceptional nutrition and lifestyle are essential in pathogenesis and prevention of most reproductive failures, pregnancy outcome and future health. We aimed to investigate whether personalized mobile health (mHealth) coaching empowers couples contemplating pregnancy to increase healthy behaviour and chances of pregnancy. A survey was conducted among 1053 women and 332 male partners who received individual coaching using the mHealth programme 'Smarter Pregnancy' to change poor nutrition and lifestyle for 26 weeks, depending on pregnancy state and gender...
June 27, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28678065/pregnancy-and-reproductive-aspects-of-systemic-lupus-erythematosus
#4
Laura Andreoli, Francesca Crisafulli, Angela Tincani
PURPOSE OF REVIEW: To discuss pregnancy and reproductive aspects in women with systemic lupus erythematosus (SLE) with particular focus on preconception counselling, maternal and foetal outcomes, safety and beneficial effects of drugs during pregnancy as well as contraception methods, assisted reproduction techniques and strategies for thromboembolism prophylaxis in patients with positive antiphospholipid antibodies. RECENT FINDINGS: Evidence-based recommendations for the management of family planning and women's health issues in SLE and/or APS have been developed by a multidisciplinary panel of experts...
July 3, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28660887/association-between-hypertensive-disorders-of-pregnancy-and-the-risk-of-postpartum-hypertension-a-cohort-study-in-women-with-gestational-diabetes
#5
L Wang, J Leng, H Liu, S Zhang, J Wang, W Li, W Li, N Li, T Zhang, A A Baccarelli, L Hou, X Yang, Z Yu, G Hu
Previous studies in general people indicated that hypertensive disorders of pregnancy (HDP) increased the risk of subsequent hypertension after delivery. Some studies found that women with gestational diabetes mellitus (GDM) had an increased risk of HDP. However, very few studies have assessed the association between HDP and the risk of postpartum hypertension among GDM women. To evaluate the association between HDP and the risk of postpartum hypertension among GDM women, a retrospective cohort study was conducted in 1261 women with prior GDM at their postpartum 1-5 years using the baseline data from Tianjin Gestational Diabetes Mellitus Prevention Program...
June 29, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28650842/ambient-temperature-and-stillbirth-a-multi-center-retrospective-cohort-study
#6
Sandie Ha, Danping Liu, Yeyi Zhu, Sung Soo Kim, Seth Sherman, Katherine L Grantz, Pauline Mendola
BACKGROUND: Climate change is expected to have adverse health effects, but the association between extreme ambient temperatures and stillbirth is unclear. OBJECTIVES: We investigated acute and chronic associations between extreme ambient temperatures and stillbirth risk, and estimated the attributable risk associated with local temperature extremes in the United States. METHODS: We linked 223,375 singleton births of gestation (2002-2008) from 12 U...
June 22, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28647972/-relationship-between-pesticide-exposure-and-adverse-pregnancy-outcomes-among-reproductive-couples-in-rural-areas-of-china
#7
Y M Qu, S Chen, J J Li, R R Jin, H Pan, Y Jiang
Objective: To analyze the association between pesticide exposure and adverse pregnancy outcomes in women from the rural areas of China. Methods: Data of "National Free Preconception Health Examination Project (NFPHEP)" from January 2010 to December 2012 was used for analysis. A total of 248 501 families that were planning to deliver a baby in the next 6 months were enrolled. Data on paternal exposure to pesticides before or during pregnancy was collected through questionnaires, with related outcomes on pregnancy recorded by doctors...
June 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
https://www.readbyqxmd.com/read/28632867/effect-of-an-internet-based-program-on-weight-loss-for-low-income-postpartum-women-a-randomized-clinical-trial
#8
RANDOMIZED CONTROLLED TRIAL
Suzanne Phelan, Todd Hagobian, Anna Brannen, Karen E Hatley, Andrew Schaffner, Karen Muñoz-Christian, Deborah F Tate
Importance: Postpartum weight retention increases lifetime risk of obesity and related morbidity. Few effective interventions exist for multicultural, low-income women. Objective: To test whether an internet-based weight loss program in addition to the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC program) for low-income postpartum women could produce greater weight loss than the WIC program alone over 12 months. Design, Setting, and Participants: A 12-month, cluster randomized, assessor-blind, clinical trial enrolling 371 adult postpartum women at 12 clinics in WIC programs from the California central coast between July 2011 and May 2015 with data collection completed in May 2016...
June 20, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28626358/psychosocial-correlates-of-patient-provider-family-planning-discussions-among-hiv-infected-pregnant-women-in-south-africa
#9
Violeta J Rodriguez, Ryan R Cook, Stephen M Weiss, Karl Peltzer, Deborah L Jones
Patient-provider family planning discussions and preconception counseling can reduce maternal and neonatal risks by increasing adherence to provider recommendations and antiretroviral medication. However, HIV-infected women may not discuss reproductive intentions with providers due to anticipation of negative reactions and stigma. This study aimed to identify correlates of patient-provider family planning discussions among HIV-infected women in rural South Africa, an area with high rates of antenatal HIV and suboptimal rates of prevention of mother-to-child transmission (PMTCT) of HIV...
2017: Open Access J Contracept
https://www.readbyqxmd.com/read/28623904/impact-of-preconceptional-micronutrient-supplementation-on-maternal-mental-health-during-pregnancy-and-postpartum-results-from-a-randomized-controlled-trial-in-vietnam
#10
Phuong H Nguyen, Ann M DiGirolamo, Ines Gonzalez-Casanova, Hoa Pham, Wei Hao, Hieu Nguyen, Truong V Truong, Son Nguyen, Kimberly B Harding, Gregory A Reinhart, Reynaldo Martorell, Usha Ramakrishnan
BACKGROUND: Micronutrient malnutrition has been associated with maternal depressive symptoms (MDS), but little is known about the effects of preconceptional micronutrient supplementation. This paper examined the effects of preconceptional micronutrient supplementation on MDS during pregnancy and postpartum. METHODS: We used data from a double-blind controlled trial (PRECONCEPT) in which 5011 Vietnamese women were randomized to receive weekly supplements containing either a) multiple micronutrients (MM) b) iron and folic acid (IFA) or c) folic acid (FA) until conception (n = 1813)...
June 17, 2017: BMC Women's Health
https://www.readbyqxmd.com/read/28617151/lithium-exposure-during-pregnancy-outcomes-for-women-who-attended-a-specialist-antenatal-clinic
#11
Jacqueline Frayne, Thinh Nguyen, Tabitha Mok, Yvonne Hauck, Helena Liira
INTRODUCTION: Lithium treatment in pregnancy represents a significant dilemma for women and treating health professionals alike. The complexity of risk-benefit analysis is impacted by limited information. METHODS: A cohort study of 33 women with severe mental illness, who were prescribed lithium at any time during the pregnancy, and gave birth between December 2007 and January 2015 at a specialist antenatal clinic in Western Australia. A descriptive comparison for women who continued lithium throughout pregnancy, and those who ceased on discovery of pregnancy was undertaken examining demographic, obstetric, neonatal and psychiatric variables...
June 15, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28615372/preconception-micronutrient-supplementation-with-iron-and-folic-acid-compared-with-folic-acid-alone-affects-linear-growth-and-fine-motor-development-at-2-years-of-age-a-randomized-controlled-trial-in-vietnam
#12
Phuong H Nguyen, Ines Gonzalez-Casanova, Melissa F Young, Truong Viet Truong, Hue Hoang, Huong Nguyen, Son Nguyen, Ann M DiGirolamo, Reynaldo Martorell, Usha Ramakrishnan
Background: Maternal health and nutrition play a crucial role in early child growth and development. However, little is known about the benefits of preconception micronutrient interventions beyond the role of folic acid (FA) and neural tube defects.Objective: We evaluated the impact of weekly preconception multiple micronutrient (MM) or iron and folic acid (IFA) supplementation on child growth and development through the age of 2 y compared with FA alone.Methods: We followed 1599 offspring born to women who participated in a randomized controlled trial of preconception supplementation in Vietnam...
June 14, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28609711/birth-characteristics-of-women-with-marfan-syndrome-obstetric-and-neonatal-outcomes-of-their-pregnancies-a-nationwide-cohort-and-case-control-study
#13
Kristina Kernell, Gunilla Sydsjö, Marie Bladh, Ann Josefsson
OBJECTIVE: The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. STUDY DESIGN: In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265)...
June 1, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28605689/folic-acid-use-by-women-with-epilepsy-findings-of-the-epilepsy-birth-control-registry
#14
Andrew G Herzog, Devon B MacEachern, Hannah B Mandle, Kaitlyn E Cahill, Kristen M Fowler, Anne R Davis, W Allen Hauser
PURPOSE: To determine the prevalence and predictors of folic acid (FA) use by women with epilepsy (WWE) at risk of unintended pregnancy. METHODS: These retrospective data come from the Epilepsy Birth Control Registry (EBCR) web-based survey of 1144 WWE in the community, 18-47years, who provided demographic, epilepsy, AED, contraception, pregnancy, healthcare visits and FA data. We report prevalence and predictors of FA use in relation to risk of pregnancy (not at risk, at risk, seeking pregnancy, pregnant), demographics, seizure types and AED and contraception categories...
June 8, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28599396/five-years-experience-in-an-anesthesiology-antenatal-clinic-for-high-risk-patients
#15
Daniel Shatalin, Yaacov Gozal, Sorina Grisaru-Granovsky, Alexander Ioscovich
INTRODUCTION: The aim, of this study is to describe our approach and outcomes in an outpatient anesthesia/analgesia antepartum clinic among ambulatory high-risk obstetric patients. METHODS: This was a retrospective evaluation of the activity of the anesthesiology antenatal clinic from its inception in 2010 until 2016 (a 5-year period). The clinic works in collaboration with the Department of Obstetrics and Gynecology. The catchment area of the study University Affiliated Hospital attends a multiethnic population characterized by high parity...
May 24, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28594415/expanded-carrier-screening-what-determines-intended-participation-and-can-this-be-influenced-by-message-framing-and-narrative-information
#16
Jan S Voorwinden, Anne H Buitenhuis, Erwin Birnie, Anneke M Lucassen, Marian A Verkerk, Irene M van Langen, Mirjam Plantinga, Adelita V Ranchor
Next-generation sequencing enabled us to create a population-based expanded carrier screening (ECS) test that simultaneously tests for 50 serious autosomal recessive diseases. Before offering this test universally, we wanted to know what factors are related to intended participation and how the general public can be informed about the test without being influenced in their intention to participate. We studied this by measuring to what extent 'message framing' and 'narrative information' can influence people's intended participation...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28584581/preconceptional-use-of-folic-acid-and-knowledge-about-folic-acid-among-low-income-pregnant-women-in-korea
#17
Jihyun Kim, Miyong Yon, Cho-Il Kim, Yoonna Lee, Gui-Im Moon, Jinhwan Hong, Taisun Hyun
BACKGROUND/OBJECTIVES: Folic acid supplementation before pregnancy is known to significantly reduce the risk of having a baby with neural tube defects (NTDs). Therefore, it is important for women to be aware of the effects of folic acid supplementation before pregnancy. The purpose of this study was to investigate the awareness and preconceptional use of folic acid and to assess the current knowledge about folic acid among low-income pregnant women in Korea. SUBJECTS/METHODS: A questionnaire survey was conducted in 2012...
June 2017: Nutrition Research and Practice
https://www.readbyqxmd.com/read/28578453/prenatal-care-associations-with-prenatal-depressive-symptoms-and-social-support-in-low-income-urban-women
#18
Abbey C Sidebottom, Wendy L Hellerstedt, Patricia A Harrison, Rhonda J Jones-Webb
We examined associations of depressive symptoms and social support with late and inadequate prenatal care in a low-income urban population. The sample was prenatal care patients at five community health centers. Measures of depressive symptoms, social support, and covariates were collected at prenatal care entry. Prenatal care entry and adequacy came from birth certificates. We examined outcomes of late prenatal care and less than adequate care in multivariable models. Among 2341 study participants, 16% had elevated depressive symptoms, 70% had moderate/poor social support, 21% had no/low partner support, 37% had late prenatal care, and 29% had less than adequate prenatal care...
June 3, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/28561990/prenatal-diagnosis-of-duchenne-and-becker-muscular-dystrophies-underestimated-problem-of-the-secondary-prevention-of-monogenetic-disorders
#19
Diana Massalska, Janusz Grzegorz Zimowski, Tomasz Roszkowski, Julia Bijok, Magdalena Pawelec, Małgorzata Bednarska-Makaruk
AIM: The aim of this study was to analyze the influence of effective preconceptional testing for carrier status in women at risk for Duchenne and Becker muscular dystrophies (D/BMD) on the prenatal diagnosis. METHODS: A retrospective analysis of 201 prenatal tests was performed in 169 Polish women at risk, in regard to time of testing for carrier status (prior to conception or during pregnancy) and carrier status of tested women, including confirmed D/BMD carriers (n = 78; 46...
May 31, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28555434/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked
#20
Inge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, Egbert J W Redeker, Leo P Ten Kate, Lidewij Henneman, Hanne Meijers-Heijboer
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations...
May 29, 2017: Journal of Community Genetics
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