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Prenatal screening

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https://www.readbyqxmd.com/read/29686286/placental-mir-340-mediates-vulnerability-to-activity-based-anorexia-in-mice
#1
Mariana Schroeder, Mira Jakovcevski, Tamar Polacheck, Yonat Drori, Alessia Luoni, Simone Röh, Jonas Zaugg, Shifra Ben-Dor, Christiane Albrecht, Alon Chen
Anorexia nervosa (AN) is a devastating eating disorder characterized by self-starvation that mainly affects women. Its etiology is unknown, which impedes successful treatment options leading to a limited chance of full recovery. Here, we show that gestation is a vulnerable window that can influence the predisposition to AN. By screening placental microRNA expression of naive and prenatally stressed (PNS) fetuses and assessing vulnerability to activity-based anorexia (ABA), we identify miR-340 as a sexually dimorphic regulator involved in prenatal programming of ABA...
April 23, 2018: Nature Communications
https://www.readbyqxmd.com/read/29685609/comparison-of-4-commercially-available-group-b-streptococcus-molecular-assays-using-remnant-rectal-vaginal-enrichment-broths
#2
Ryan F Relich, Rebecca J Buckner, Christopher L Emery, Thomas E Davis
The incidence of neonatal Group B streptococcal (GBS) disease has significantly declined since the widespread implementation of prenatal screening of expectant mothers for urogenital and gastrointestinal tract GBS colonization. Screening methods have evolved from exclusively culture-based approaches to more rapid and highly sensitive molecular methods. We chose to evaluate the performance of 4 commercially available GBS molecular tests for detection of GBS colonization using 299 antepartum rectal-vaginal specimens submitted to our laboratory for routine GBS screening...
March 28, 2018: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/29683524/fetal-sex-determination-in-twin-pregnancies-using-cell-free-fetal-dna-analysis
#3
Miguel Milan, Emilia Mateu, David Blesa, Monica Clemente-Ciscar, Carlos Simon
OBJECTIVE(S): We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test. STUDY DESIGN: A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus and results were compared to the clinical outcome at birth. RESULTS: Outcome information at birth for sex chromosomes was available for 232 twin pregnancies...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29683308/maternity-care-update-postpartum-care
#4
Andrew Smith, Wendy B Barr, Erin Bassett-Novoa, Nicholas LeFevre
Family physicians are uniquely situated to play a major role in postpartum care. Postpartum issues that should be monitored and addressed include reproductive and contraceptive planning, breastfeeding counseling and support, and maternal mental health. All women should be screened for postpartum depression using a validated tool at the postpartum visit and/or at well-child visits. Patients with positive screening results should be offered support and treatment. Women are more likely to breastfeed if they are provided with breastfeeding support and counseling routinely during the prenatal and postpartum periods...
April 2018: FP Essentials
https://www.readbyqxmd.com/read/29683306/maternity-care-update-prenatal-care-and-specific-conditions
#5
Andrew Smith, Wendy B Barr, Erin Bassett-Novoa, Nicholas LeFevre
Early initiation of prenatal care is associated with improved health outcomes for women and newborns. An essential element of prenatal care is determining the estimated due date, ideally using a first-trimester ultrasound. Laboratory tests should be obtained to screen for conditions that can affect pregnancy. Routine immunizations for all pregnant women include influenza vaccine; tetanus toxoid, reduced diphtheria, acellular pertussis (Tdap) vaccine. All women should be screened for gestational diabetes mellitus in midpregnancy...
April 2018: FP Essentials
https://www.readbyqxmd.com/read/29679617/retinopathy-of-prematurity-a-review-of-risk-factors-and-their-clinical-significance
#6
REVIEW
Sang Jin Kim, Alexander D Port, Ryan Swan, J Peter Campbell, R V Paul Chan, Michael F Chiang
Retinopathy of prematurity (ROP) is a retinal vasoproliferative disease that affects premature infants. Despite improvements in neonatal care and management guidelines, ROP remains a leading cause of childhood blindness worldwide. Current screening guidelines are primarily based on two risk factors: birth weight and gestational age; however, many investigators have suggested other risk factors, including maternal factors, prenatal and perinatal factors, demographics, medical interventions, comorbidities of prematurity, nutrition, and genetic factors...
April 19, 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29678852/whole-blood-pcr-for-rapid-screening-of-%C3%AE-0-thalassemia
#7
Phongsathorn Wichian, Supawadee Yamsri, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen
Hemoglobin Bart's hydrops fetalis (homozygous α0 -thalassemia) is the most severe form of thalassemia in the Southeast Asian population. Fetuses with this disorder almost always die in utero or shortly after birth. Screening of α0 -thalassemia carrier is therefore crucial. Currently, diagnosis of α0 -thalassemia genes is done by DNA-based analysis which relies on DNA extraction. We have developed a simple screening format based on whole blood PCR assay. The method was validated on 198 specimens and the results show 100% concordance with a conventional gap-PCR on DNA specimens...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29671167/vitamin-d-deficiency-and-depressive-symptoms-in-pregnancy-are-associated-with-adverse-perinatal-outcomes
#8
Eynav Elgavish Accortt, Amy Lamb, James Mirocha, Calvin J Hobel
Prenatal vitamin D deficiency and prenatal depression are both separately associated with adverse perinatal outcomes; however, to our knowledge no studies have investigated the effects of having both risk factors. Our objective was to determine to what extent vitamin D deficiency predicts adverse perinatal outcomes and whether elevated depressive symptoms in pregnancy places women at additional increased risk. This study was a secondary data analysis of prospective data collected from a cohort of pregnant women (N = 101) in an obstetric clinic of a large medical center...
April 18, 2018: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/29670384/screening-and-management-of-gestational-diabetes-in-mexico-results-from-a-survey-of-multilocation-multi-health-care-institution-practitioners
#9
Livia Dainelli, Alberto Prieto-Patron, Irma Silva-Zolezzi, Sandra G Sosa-Rubi, Salvador Espino Y Sosa, Enrique Reyes-Muñoz, Ruy Lopez-Ridaura, Patrick Detzel
Purpose: To identify the most common practices implemented for the screening and treatment of gestational diabetes mellitus (GDM) and to estimate the GDM clinician-reported proportion as a proxy of the incidence in Mexico. Materials and methods: Three hundred fifty-seven physicians in four major cities were asked about their practices regarding GDM screening, treatment, clinical exams, and health care staff involved in case of GDM diagnosis, as well as the percentage of women with GDM they care for...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
https://www.readbyqxmd.com/read/29664026/prenatal-screening-for-genetic-disorders-suggested-guidelines-for-the-indian-scenario
#10
REVIEW
Shubha R Phadke, Ratna D Puri, Prajnya Ranganath
Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29663900/congenital-toxoplasmosis-in-tunisia-prenatal-and-neonatal-diagnosis-and-postnatal-follow-up-of-35-cases
#11
Boudaouara Yosr, Aoun Karim, Maatoug Rania, Souissi Olfa, Bouratbine Aïda, Ben Abdallah Rym
Congenital toxoplasmosis (CT) results from transplacental passage of Toxoplasma gondii to the fetus during acute maternal infection. Our study aims to report clinical and biological patterns of 35 cases of CT diagnosed at the department of the Parasitology of the Pasteur Institute of Tunis and to access the performance of prenatal and early postnatal diagnosis techniques. Serological screening of maternal infection was performed by Immunoglobulin (Ig) M and IgG detection and IgG avidity determination. Prenatal diagnosis was based on both Toxoplasma DNA detection in the amniotic fluid and monthly ultrasound examinations...
April 16, 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29658947/pulmonary-sequestration-associated-with-congenital-pulmonary-airway-malformation
#12
Zahira A De León-Ureña, Stanislaw Sadowinski-Pine, Lourdes Jamaica-Balderas, Jaime Penchyna-Grub
Introduction: Congenital pulmonary malformations are a rare cause of neonatal morbidity. Some of them have a common origin, which allows the identification of combined lesions. Its diagnosis can be made prenatally by ultrasound, with the limitation that this study is performed in specialized centers and depends on the expertise of the operator. The association of pulmonary sequestration and congenital malformation of the airway has been described in approximately 40-60 cases since its first description in 1949...
2018: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29658579/identification-of-tyr-mutations-in-patients-with-oculocutaneous-albinism
#13
Wan Sun, Yanjie Shen, Shan Shan, Liyun Han, Yang Li, Zheng Zhou, Zilin Zhong, Jianjun Chen
Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis...
April 13, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29658110/prenatal-diethylstilbestrol-des-exposure-and-mammographic-density
#14
William C Strohsnitter, Kimberly A Bertrand, Rebecca Troisi, Christopher G Scott, Andrea L Cheville, Robert N Hoover, Julie R Palmer, Celine M Vachon
In a prospective cohort study of the health effects associated with prenatal Diethylstilbestrol (DES) exposure, DES was associated with an increased breast cancer risk after 40 years of age. It is unknown whether it is associated with greater mammographic density, which strongly predicts breast cancer risk. A cohort of DES-exposed and unexposed women was assembled at the Mayo Clinic in 1975, and followed through 2012 as part of the National Cancer Institute's DES Follow-up Study. Mammographic density from 3,637 mammograms for 332 (222 DES-exposed, 110 unexposed) women in this cohort screened at the Mayo Clinic, Rochester between 1996 and 2015 were determined clinically using the Breast Imaging Reporting and Data System (BI-RADS)...
April 15, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29652985/-mutation-analysis-and-prenatal-diagnosis-for-50-pedigrees-affected-with-duchenne-becker-muscular-dystrophy
#15
Huanzheng Li, Chenyang Xu, Yijian Mao, Jinfang Lu, Yanbao Xiang, Xueqin Xu, Shaohua Tang
OBJECTIVE: To establish individualized prenatal diagnosis program for families affected with Duchenne/Becker muscular dystrophy (DMD/BMD) and different clinical background using a variety of methods. METHODS: Multiplex ligation-dependent probe amplification (MLPA) was performed on 50 patients suspected for DMD/BMD. For single exon deletions of the DMD gene, PCR was used for validating the results. For those without any deletion or duplication, Sanger sequencing was used to screen for DMD gene mutations in the children and their mothers...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652984/-analysis-of-disease-causing-gene-mutation-in-three-chinese-families-with-congenital-inherited-cataract
#16
Chengxia Ma, Guangying Zheng, Lili Hao
OBJECTIVE: To identify the disease-causing gene mutations in three Chinese pedigrees affected with congenital inherited cataract, in ordre to provide genetic counseling and prenatal diagnosis. METHODS: Using exons combined target region capture sequencing chip to screen the candidate disease-causing mutations, Sanger sequencing was used to confirm the disease-causing mutations. RESULTS: Family 1 was polymorphic cataract, family 2 was cerulean cataract, family 3 was coralliform cataract...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652937/trajectories-of-maternal-depressive-symptoms-during-pregnancy-and-the-first-12-months-postpartum-and-child-externalizing-and-internalizing-behavior-at-three-years
#17
Dawn Kingston, Heather Kehler, Marie-Paule Austin, Muhammad Kashif Mughal, Abdul Wajid, Lydia Vermeyden, Karen Benzies, Stephanie Brown, Scott Stuart, Rebecca Giallo
BACKGROUND: Most evidence of the association between maternal depression and children's development is limited by being cross-sectional. To date, few studies have modelled trajectories of maternal depressive symptoms from pregnancy through the early postpartum years and examined their association with social emotional and behavior functioning in preschool children. The objectives of this study were to: 1) identify distinct groups of women defined by their trajectories of depressive symptoms across four time points from mid-pregnancy to one year postpartum; and 2) examine the associations between these trajectories and child internalizing and externalizing behaviors...
2018: PloS One
https://www.readbyqxmd.com/read/29649540/incidence-risk-factors-and-pregnancy-outcomes-of-gestational-diabetes-mellitus-using-one-step-versus-two-step-diagnostic-approaches-a-population-based-cohort-study-in-isfahan-iran
#18
Elham Hosseini, Mohsen Janghorbani, Ashraf Aminorroaya
AIMS: To study the incidence, risk factors, and pregnancy outcomes associated with gestational diabetes mellitus (GDM) diagnosed with one-step and two-step screening approaches. METHODS: 1000 pregnant women who were eligible and consented to participate underwent fasting plasma glucose testing at the first prenatal visit (6-14 weeks). The women free from GDM or overt diabetes were screened at 24-28 weeks using the 50-g glucose challenge test (GCT) followed by 100-g, 3-h oral glucose tolerance test (OGTT) (two-step method)...
April 9, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29627075/congenital-syphilis
#19
REVIEW
Joshua M Cooper, Pablo J Sánchez
Congenital syphilis remains a major public health problem worldwide, and its incidence is increasing in the United States. This review highlights the ongoing problem of this preventable infection, and discusses vertical transmission and clinical manifestations while providing a practical algorithm for the evaluation and management of infants born to mothers with reactive serologic tests for syphilis. Every case of congenital syphilis must be seen as a failure of our public health system to provide optimal prenatal care to pregnant women, as congenital syphilis can be prevented by early and repeated prenatal serologic screening of mothers and penicillin treatment of infected women, their sexual partners, and their newborn infants...
April 4, 2018: Seminars in Perinatology
https://www.readbyqxmd.com/read/29626711/non-invasive-prenatal-diagnosis-of-fetal-aneuploidy-using-cell-free-fetal-dna
#20
REVIEW
Barbara Renga
The discovery of cell free fetal DNA in maternal plasma has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. It is thus expected that plasma DNA-based non invasive prenatal testing will play an increasingly important role in the future of obstetric care. The present review summarizes recent advances in non invasive prenatal testing using cell free fetal DNA...
March 20, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
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