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https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#1
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938429/effect-of-preconception-impaired-glucose-tolerance-on-pregnancy-outcomes-in-women-with-polycystic-ovary-syndrome
#2
Daimin Wei, Bo Zhang, Yuhua Shi, Lin Zhang, Shigang Zhao, Yanzhi Du, Lizhen Xu, Richard S Legro, Heping Zhang, Zi-Jiang Chen
Context: Women with polycystic ovary syndrome (PCOS) commonly have intrinsic insulin resistance and are recommended to undergo an oral glucose tolerance test (OGTT) for diabetes screening. However, the effect of preconception impaired glucose tolerance (IGT) on pregnancy is still unclear. Objective: To prospectively assess the effect of preconception IGT on pregnancy outcomes. Design, Setting, Patients, Intervention(s) and Main Outcome Measure(s): This was a secondary analysis of a multicenter randomized trial in 1508 women with PCOS comparing live birth and obstetric complications between fresh and frozen embryo transfer...
August 14, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28895680/optimising-preconception-health-in-women-of-reproductive-age
#3
Adina Y Lang, Jacqueline A Boyle, Grace Fitzgerald, Helena Teede, Danielle Mazza, Lisa J Moran, Cheryce Harrison
There is a growing realisation that efforts to optimise the health of women and reduce the risk of adverse maternal, perinatal and neonatal outcomes during pregnancy should commence in the preconception period. The preconception period (prior to or between pregnancies) provides an opportune time to address reproductive intentions and promote and support wellbeing and healthy behaviour change regardless of pregnancy intention. Research over the last 30 years has explored the influence of a range of preconception risk factors and determinants of health on pregnancy and maternal and neonatal outcomes including: pregnancy planning, diet and micronutrient supplementation, physical activity, weight, smoking, recreational drug and alcohol use, mental health, oral hygiene, and chronic health and medical conditions...
September 12, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28885096/infant-hydrocephalus-in-sub-saharan-africa-the-reality-on-the-tanzanian-side-of-the-lake
#4
Maria M Santos, Derick K Rubagumya, Imani Dominic, Amos Brighton, Soledad Colombe, Philip O'Donnell, Micaella R Zubkov, Roger Härtl
OBJECTIVE Infant hydrocephalus is estimated to affect more than 100,000 new infants each year in sub-Saharan Africa (SSA). Bugando Medical Centre (BMC), a government-funded and patient cost-shared referral center, serves over 13 million people in the Lake and Western regions of Tanzania. The goals of this study were to characterize the infant population affected by hydrocephalus who presented to BMC and were treated with a ventriculoperitoneal shunt (VPS) to determine the rate of early complications associated with this surgical procedure and to assess its potential risk factors...
September 8, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28882122/prevalence-and-predictors-of-early-gestational-weight-gain-associated-with-obesity-risk-in-a-diverse-australian-antenatal-population-a-cross-sectional-study
#5
K Cheney, S Berkemeier, K A Sim, A Gordon, K Black
BACKGROUND: Excess gestational weight gain (GWG) leads to adverse short- and long-term consequences for women and their offspring. Evidence suggests that excess GWG in early pregnancy may be particularly detrimental, contributing to the intergenerational cycle of obesity. The primary outcome was to investigate the prevalence and predictors of excess GWG in early pregnancy, and if women understand the risks to themselves and their offspring stratified by maternal body mass index (BMI)...
September 7, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28881394/the-effect-of-vaccination-against-human-papillomavirus-on-fecundability
#6
Kathryn A McInerney, Elizabeth E Hatch, Amelia K Wesselink, Ellen M Mikkelsen, Kenneth J Rothman, Rebecca B Perkins, Lauren A Wise
BACKGROUND: The human papillomavirus (HPV) vaccine was developed to prevent infection with strains of HPV that cause cervical cancer. While HPV infection has been associated with reduced semen quality and lower pregnancy rates in some studies, no studies have examined the relationship between HPV vaccination and fecundability. We hypothesize that HPV prevention via vaccination will protect fecundity. METHODS: We analysed data from Pregnancy Study Online (PRESTO), a preconception cohort of North American pregnancy planners...
September 7, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28881390/prenatal-alcohol-exposure-in-relation-to-autism-spectrum-disorder-findings-from-the-study-to-explore-early-development-seed
#7
Alison B Singer, Arthur S Aylsworth, Christina Cordero, Lisa A Croen, Carolyn DiGuiseppi, M Daniele Fallin, Amy H Herring, Stephen R Hooper, Rebecca E Pretzel, Laura A Schieve, Gayle C Windham, Julie L Daniels
BACKGROUND: Prenatal alcohol exposure can affect neurodevelopment, but few studies have examined associations with autism spectrum disorder (ASD). METHODS: We assessed the association between maternal alcohol use and ASD in the Study to Explore Early Development, a multi-site case-control study of children born between September 2003 and August 2006 in the US Regression analyses included 684 children with research clinician-confirmed ASD, 869 children with non-ASD developmental delays or disorders (DDs), and 962 controls ascertained from the general population (POP)...
September 7, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28875956/seroepidemiology-of-syphilis-infection-among-2-million-reproductive-age-women-in-rural-china-a-population-based-cross-sectional-study
#8
Kai-Ju Liao, Shi-Kun Zhang, Min Liu, Qiao-Mei Wang, Jue Liu, Hai-Ping Shen, Yi-Ping Zhang
Background: Quantifying syphilis prevalence is important for planning interventions and advocating for resources on syphilis. However, data on large sample studies regarding the prevalence of syphilis among reproductive-age women in rural China were not available for analysis. The aim of the study was to determine the prevalence, epidemiological characteristics, and related factors of syphilis infection among reproductive-age women in rural China. Methods: Data were obtained from a nationwide, population-based, cross-sectional study under the National Free Preconception Health Examination Project which covered all the 31 provinces in Mainland China...
September 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28872418/pregnancy-planning-preferences-among-people-and-couples-affected-by-human-immunodeficiency-virus-piloting-a-discrete-choice-experiment
#9
Mona Loutfy, V Logan Kennedy, Morvarid Sanandaji, Fatimatou Barry, Fanta Ongoiba, Marvelous Muchenje, Wangari Tharao, Dean A Regier
Decision-making related to pregnancy planning is complex and human immunodeficiency virus (HIV) may further complicate the process. With increasing rates of pregnancy among individuals affected by HIV, the need to understand decision-making is imperative. The primary objectives of this pilot study were to confirm the feasibility of using discrete choice experimentation (DCE) to elicit an understanding of this process and to determine the acceptability of the choice factors that were included in two novel DCEs, while gathering a preliminary understanding of preference...
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28863222/chronic-kidney-disease-in-pregnancy
#10
REVIEW
Abhilash Koratala, Deepti Bhattacharya, Amir Kazory
With the increasing prevalence of chronic kidney disease (CKD) worldwide, the number of pregnant women with various degrees of renal dysfunction is expected to increase. There is a bidirectional relation between CKD and pregnancy in which renal dysfunction negatively affects pregnancy outcomes, and the pregnancy can have a deleterious impact on various aspects of kidney disease. It has been shown that even mild renal dysfunction can increase considerably the risk of adverse maternal and fetal outcomes. Moreover, data suggest that a history of recovery from acute kidney injury is associated with adverse pregnancy outcomes...
September 2017: Southern Medical Journal
https://www.readbyqxmd.com/read/28854715/systematic-review-and-meta-analysis-of-the-impact-of-preconception-lifestyle-interventions-on-fertility-obstetric-fetal-anthropometric-and-metabolic-outcomes-in-men-and-women
#11
L Lan, C L Harrison, M Misso, B Hill, H J Teede, B W Mol, L J Moran
STUDY QUESTION: What is the impact of preconception lifestyle interventions on live birth, birth weight and pregnancy rate? SUMMARY ANSWER: Lifestyle interventions showed benefits for weight loss and increased natural pregnancy rate, but not for live birth or birth weight. WHAT IS KNOWN ALREADY: Evidence on the practice and content of preconception counseling and interventions is variable and limited. STUDY DESIGN, SIZE, DURATION: Systematic review and meta-analysis (MA)...
September 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28852656/preconception-care-in-therapeutic-abortion-applicants
#12
Farzaneh Shirmohammadi, Nafisehsadat Nekuei, Parvin Bahadoran, Gita Montazery
BACKGROUND: Some risk factors that would lead to therapeutic abortion do even exist before pregnancy and could be resolved or corrected through appropriate interventions. The present study was conducted to evaluate the condition of preconception care among therapeutic abortion applicants. MATERIALS AND METHODS: This research was a descriptive, cross-sectional study that was conducted on 200 applicants for therapeutic abortion at the Forensics Medicine Center of Isfahan (Iran) who were selected convenience sampling from October 2014 to March 2015...
2017: Journal of Education and Health Promotion
https://www.readbyqxmd.com/read/28846864/anti-m%C3%A3-llerian-hormone-levels-and-fecundability-in-women-with-a-natural-conception
#13
Helene W Hvidman, Anne Kirstine Bang, Lærke Priskorn, Thomas Scheike, Kathrine Birch Petersen, Loa Nordkap, Anne Loft, Anja Pinborg, Ann Tabor, Niels Jørgensen, Anders Nyboe Andersen
OBJECTIVES: To investigate the association between anti-Müllerian hormone (AMH), a well-established marker of the ovarian reserve, and time-to-pregnancy (TTP) in natural conceptions, and to assess changes in serum-AMH in early pregnancy. STUDY DESIGN: A cross sectional study comprising 279 women aged 21-42 years with a natural conception recruited during 2012-2014. AMH was measured in gestational week 10-19. AMH z-scores (z-AMH) adjusted for gestational week at blood sampling were categorised in the 1st, 2nd-4th (reference), and 5th quintile...
August 14, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28844800/paternal-use-of-azathioprine-6-mercaptopurine-or-methotrexate-within-3-months-before-conception-and-long-term-health-outcomes-in-the-offspring-a-nationwide-cohort-study
#14
S Friedman, M D Larsen, B Magnussen, L R Jølving, P de Silva, B M Nørgård
PURPOSE: We examined the effect of preconception paternal use of azathioprine (AZA)/6-mercaptopurine (6-MP) or methotrexate (MTX) and the risk of adverse long-term outcomes in the offspring. METHODS: This study included all children born in Denmark from 1 January 1997 through 2013. Exposed cohort: children fathered by men who used AZA/6-MP (N=735) or MTX (N=209) within three months before conception; unexposed cohort: children fathered by men who did not use AZA/6-MP/MTX (N=1,056,524)...
August 24, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28828743/pregnancy-in-women-with-congenital-heart-disease
#15
REVIEW
Evin Yucel, Doreen DeFaria Yeh
Advances in cardiac surgical interventions in infancy and childhood have led to an increased number of women with congenital heart disease of childbearing age. For these women, individualized preconception counseling and pregnancy planning should be a vital component of their medical management, and presentation for obstetric care may even be an opportunity to re-establish cardiovascular care for patients who have been lost to follow-up. These patients have unique cardiovascular anatomy and physiology, which is dependent upon the surgical intervention they may have undergone during childhood or adolescence...
August 22, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28820414/-identification-of-causes-of-early-pregnancy-losses-according-to-hystomorphologic-features
#16
K Gotsiridze, N Kintraia, M Pailodze, T Gogia, F Tsaava
Retrospective analysis of the early spontaneous abortions has been conducted (486 cases). Histomorphologic analysis of the curettage material contents erveledinvolutive-regressive developmental chsnges in 108 (22,28%) cases, in 370 cases (77.78%) pathologic changes, like inflammatory changes of deciduas and chorionic villis in 302 cases (80.2%), pathologic prematurity of chorionic vili in 48 cases (12.6%), hydatidiform mole in 28 cases (7.4%). As most cases of pregnancy loss has been reported at 7-9 weeks /172 cases/, we compared histomorphologic data revealed at 7-8 (71 cases) weeks to 5-6 (135 cases) and 10-12 weeks of gestation...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28818820/opportunities-of-mhealth-in-preconception-care-preferences-and-experiences-of-patients-and-health-care-providers-and-other-involved-professionals
#17
Matthijs R Van Dijk, Maria Ph Koster, Ageeth N Rosman, Regine Pm Steegers-Theunissen
BACKGROUND: The importance of the preconception period and preconception care (PCC) are broadly acknowledged and the potential benefits regarding health promotion have been studied extensively. PCC provides the opportunity to identify, prevent, and treat modifiable and nonmodifiable risk factors to optimize the health of couples trying to become pregnant. The prevalence of modifiable and nonmodifiable risk factors in these couples is high, but the uptake of PCC remains low. OBJECTIVE: The aim of this study is to identify the preferences and experiences of women and men (patients) trying to become pregnant and of health care providers and other involved professionals regarding mobile health (mHealth), in particular the coaching platform Smarter Pregnancy, and its potential role in PCC...
August 17, 2017: JMIR MHealth and UHealth
https://www.readbyqxmd.com/read/28805261/pregnancy-outcomes-and-impact-of-pregnancy-on-graft-function-in-women-after-kidney-transplantation
#18
Fa Mohammadi, M Borg, A Gulyani, S P Mcdonald, S Jesudason
BACKGROUND: Kidney transplantation facilitates pregnancy in women with end-stage kidney disease, however impact of pregnancy on short and longer-term graft function is uncertain. METHODS: Obstetric, foetal and graft outcomes for pregnancies from a large Australian transplant unit (1976-2015) were reviewed. RESULTS: There were 56 pregnancies in 35 women with mean age at conception 30.4±0.6 years and mean transplant-pregnancy interval 5.5±0...
August 14, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28799164/preconception-care-for-diabetic-women-for-improving-maternal-and-infant-health
#19
REVIEW
Joanna Tieu, Philippa Middleton, Caroline A Crowther, Emily Shepherd
BACKGROUND: Infants born to mothers with pre-existing type 1 or type 2 diabetes mellitus are at greater risk of congenital anomalies, perinatal mortality and significant morbidity in the short and long term. Pregnant women with pre-existing diabetes are at greater risk of perinatal morbidity and diabetic complications. The relationship between glycaemic control and health outcomes for both mothers and infants indicates the potential for preconception care for these women to be of benefit...
August 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28781315/unexpected-acute-necrotizing-ulcerative-gingivitis-in-a-well-controlled-hiv-infected-case
#20
Hirofumi Kato, Akifumi Imamura
We herein report the case of a 41-year-old Japanese man with well-controlled HIV who presented with diagnostically difficult acute necrotizing ulcerative gingivitis (ANUG). After diet-induced weight loss, he developed oral pain and disturbance of mouth opening, and was admitted to our hospital. Based on preconceptions of HIV-associated diseases, fluconazole was initiated for candidiasis. However, no improvement was seen and ANUG was finally diagnosed. This case suggests that physicians should consider ANUG in HIV-infected individuals when several risk factors are present, even if CD4+ T-lymphocyte counts have remained stable owing to long-term anti-retroviral therapy...
August 15, 2017: Internal Medicine
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