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Prenatal screening

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https://www.readbyqxmd.com/read/29031022/fetal-analysis-with-invasive-method-fa-i-and-fetal-analysis-with-non-invasive-method-fa-ni-replacing-current-deceptively-imprecise-clinical-nomenclature
#1
Frank A Chervenak, Laurence B McCullough, Joachim Dudenhausen
There is a problem with the current nomenclature of prenatal evaluation. The current nomenclature of "prenatal testing" and "prenatal screening" - along with their subsets of "ultrasound testing," "ultrasound screening," "non-invasive prenatal testing," "non-invasive prenatal screening," and "prenatal diagnosis" - has become so imprecise that clinical misinterpretation and distortion of the informed consent process are increasingly difficult to avoid. To remedy this problem, we propose a new, precise nomenclature: "fetal analysis with invasive method" (FA-I) and "fetal analysis with non-invasive method," (FA-NI) using various techniques...
October 14, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29028670/cord-blood-bisphenol-a-levels-and-reproductive-and-thyroid-hormone-levels-of-neonates-the-hokkaido-study-on-environment-and-children-s-health
#2
Machiko Minatoya, Seiko Sasaki, Atsuko Araki, Chihiro Miyashita, Sachiko Itoh, Jun Yamamoto, Toru Matsumura, Takahiko Mitsui, Kimihiko Moriya, Kazutoshi Cho, Keita Morioka, Hisanori Minakami, Nobuo Shinohara, Reiko Kishi
BACKGROUND: Bisphenol A (BPA) is widely used and BPA exposure is nearly ubiquitous in developed countries. While animal studies have indicated adverse health effects of prenatal BPA exposure including reproductive dysfunction and thyroid function disruption possibly in a sex-specific manner, findings from epidemiologic studies have not been enough to prove these adverse effects. Given very limited research on human, the aim of this study was to investigate associations between cord blood BPA levels and reproductive and thyroid hormone levels of neonates and whether associations differed by neonate sex...
October 2017: Epidemiology
https://www.readbyqxmd.com/read/29027708/advancing-prenatal-detection-of-congenital-heart-disease-a-novel-screening-protocol-improves-early-diagnosis-of-complex-congenital-heart-disease
#3
Karen M Letourneau, David Horne, Reeni N Soni, Keith R McDonald, Fern C Karlicki, Randy R Fransoo
OBJECTIVES: Prenatal diagnosis of complex congenital heart disease (CHD) during routine obstetric ultrasound (US) examinations improves postnatal outcomes, but sensitivity is low (<40%). Our objective was to improve our prenatal detection of complex CHD with implementation of a specific screening protocol. METHODS: From January 2003 to December 2013, 506 consecutive confirmed cases of complex CHD in the province of Manitoba, Canada, were analyzed to compare the sensitivity and positive predictive value of prenatal US detection of complex CHD before and after the introduction of a novel prenatal screening protocol...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29026689/accurate-diagnosis-of-prenatal-cleft-lip-palate-by-understanding-the-embryology
#4
REVIEW
Bram Smarius, Charlotte Loozen, Wendy Manten, Mireille Bekker, Lou Pistorius, Corstiaan Breugem
Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams...
September 26, 2017: World Journal of Methodology
https://www.readbyqxmd.com/read/29026336/factors-associated-with-continuing-emergence-of-%C3%AE-thalassemia-major-despite-prenatal-testing-a-cross-sectional-survey
#5
Haleama Al Sabbah, Sarah Khan, Abdallah Hamadna, Lamia Abu Ghazaleh, Anwar Dudin, Bashar Adnan Karmi
PURPOSE: Health care initiatives focusing on prenatal testing and premarital genetic screening aiming to reduce the incidence of β-thalassemia have emerged during the last decade. In Palestine, 4% of the population are known thalassemia carriers with new cases continuing to appear despite the availability of prenatal testing. This study aims to identify factors that influence the decision to retain or abort fetuses affected by β-thalassemia in Palestine. METHODS: Convenience sampling was used to select 32 women (72 fetuses) who were at risk of having a baby with β-thalassemia...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/29024868/introduction-of-non-invasive-prenatal-testing-as-a-first-tier-aneuploidy-screening-test-a-survey-among-dutch-midwives-about-their-role-as-counsellors
#6
Linda Martin, Janneke T Gitsels-van der Wal, Marjon A de Boer, Meredith Vanstone, Lidewij Henneman
In 2014, non-invasive prenatal testing (NIPT) for trisomies 21, 18 and 13 was added to the Dutch prenatal screening program as part of the TRIDENT study. Most (85%) pregnant Dutch women are counselled for prenatal aneuploidy screening by primary care midwives. This will remain when NIPT is implemented as a first-tier screening test. We therefore investigated midwife counsellors': 1) Knowledge about NIPT; 2) Attitudes towards NIPT as first-tier screening test; and 3) Experiences with informing clients about NIPT...
September 24, 2017: Midwifery
https://www.readbyqxmd.com/read/29022077/no-association-between-periodontitis-and-preterm-low-birth-weight-a-case-control-study
#7
Mariana Fampa Fogacci, Elaine de O C Cardoso, Davi da S Barbirato, Denise Pires de Carvalho, Carmelo Sansone
PURPOSE: This study aimed to investigate the association between periodontitis in pregnant women and adverse pregnancy outcomes by heeding confounding risk factors for preterm low birth weight infants. METHODS: This study was reported according to The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement. A case-control study was conducted. Medical records of all pregnant women attending a prenatal care clinic were screened. Those between 21 and 34 years and gestational age of 28-32 weeks were initially enrolled in the study...
October 11, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29018962/the-fetal-lung-to-liver-signal-intensity-ratio-on-magnetic-resonance-imaging-as-a-predictor-of-outcomes-from-isolated-congenital-diaphragmatic-hernia
#8
Masaya Yamoto, Teruo Iwazaki, Kasumi Takeuchi, Kyouhei Sano, Koji Fukumoto, Toshiaki Takahashi, Akiyoshi Nomura, Kei Ooyama, Akinori Sekioka, Yutaka Yamada, Naoto Urushihara
PURPOSE: We investigated the developmental changes in the unaffected contralateral lungs of patients with isolated left-sided congenital diaphragmatic hernia (CDH) using signal intensity ratios on prenatal magnetic resonance imaging (MRI) and determined whether these changes correlated with clinical outcomes. METHODS: We performed 47 fetal MRI screens on 30 patients with isolated left-sided CDH. A cohort of 88 fetuses was selected as the control. We calculated the lung-to-liver signal intensity ratio (LLSIR) using region of interest analysis and compared LLSIR between the groups and between those in the CDH group with good and poor prognoses...
October 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29017631/infants-born-with-critical-chd-in-arizona-and-capacities-of-birth-centres-for-screening-and-management
#9
Lydia Villa, Brent Bjornsen, Heather Giacone, Erica M Weidler, Ekta Bajaj, Andrew Muth, Melanie Kennedy, Timothy Flood, Dianna Contreras, Joseph Spadafino, Ashish Shah
OBJECTIVES: The aims of this study were to identify locations of births in Arizona with critical CHD, as well as to assess the current use of pulse-oximetry screening and capacities of birth centres to manage a positive screen. Study design Infants (n=487) with a potentially critical CHD were identified from the Arizona Department of Health Services from 2012 and 2013; charts were retrospectively reviewed. Diagnosis was confirmed using echocardiographies. ArcGIS was used to generate maps to visualise the location of treating facility and mother's residence...
October 11, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29016491/expanding-prenatal-care-to-unauthorized-immigrant-women-and-the-effects-on-infant-health
#10
Jonas J Swartz, Jens Hainmueller, Duncan Lawrence, Maria I Rodriguez
OBJECTIVE: To measure the effect of access to prenatal care on unauthorized and low-income, new legal permanent resident immigrant women and their offspring. METHODS: We used a difference-in-differences design that leverages the staggered rollout of Emergency Medicaid Plus by county from 2008 to 2013 as a natural experiment to estimate the effect on health service utilization for women and health outcomes for their infants. Regular Medicaid pregnancies were used as an additional control in a triple difference design...
October 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29016485/a-medically-supervised-pregnancy-exercise-intervention-in-obese-women-a-randomized-controlled-trial
#11
Niamh Daly, Maria Farren, Aoife McKeating, Ruth OʼKelly, Mary Stapleton, Michael J Turner
OBJECTIVE: To evaluate whether an intensive, medically supervised exercise intervention improved maternal glycemia and gestational weight gain in obese pregnant women when compared with routine prenatal care. METHODS: This randomized controlled trial compared a medically supervised exercise intervention with routine prenatal care. The primary outcome was a reduction in mean maternal fasting plasma glucose in the intervention group by 6.9 mg/dL at the time of a 75-g oral glucose tolerance test at 24-28 weeks of gestation...
October 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28992071/prenatal-screening-for-and-prevalence-of-hepatitis-b-surface-antigen-in-pregnant-women-and-prevention-of-transmission-to-infants-born-to-infected-mothers-guam-2014
#12
Winston E Abara, Susan Cha, Tasneem Malik, Mia S DeSimone, Sarah Schillie, Melissa Collier, Bernadette Schumann, Michael Klemme, Mary Kamb
Background: Perinatal transmission is the major mode of hepatitis B virus (HBV) transmission and drives HBV endemicity in the US territory of Guam. We assessed correlates of prenatal hepatitis B surface antigen (HBsAg) screening and HBsAg positivity among pregnant women and evaluated the care of infants of HBsAg-positive women. Methods: Demographic and clinical data were abstracted from the maternal medical records of 966 randomly selected live infants born in 2014...
September 5, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28990982/futuristic-look-at-genetic-and-birth-defect-diagnoses-and-treatments
#13
Anthony R Gregg
One aim of prenatal care is to provide information to prospective parents. The information provided encompasses prenatal care, intrapartum and postpartum care. Learning the genetic constitution of the parents pre-conception or the ongoing pregnancy allows parents to make decisions and set expectations. Offering screening and diagnostic testing has been the main in satisfying the desire for prenatal genetic information. With rapid advances in genomics and genome sequencing, screening during an ongoing pregnancy may become obsolete...
October 5, 2017: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28982351/spectrum-of-pah-gene-variants-among-a-population-of-han-chinese-patients-with-phenylketonuria-from-northern-china
#14
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
BACKGROUND: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. METHODS: In total, 655 PKU patients and their families were recruited for this study; each proband was diagnosed both clinically and biochemically with phenylketonuria...
October 5, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28981983/roadmap-for-an-early-gene-therapy-for-cystic-fibrosis-airway-disease
#15
REVIEW
Marianne S Carlon, Dragana Vidović, Susan Birket
Gene therapy provides a mutation-independent approach to treat or even cure CF airway disease. To develop a clinical candidate for CF gene therapy, a thorough examination of preclinical efficacy in relevant cell and animal models is a prerequisite. For a long time, the CF field was struggling with a lack of appropriate animal models for CF airway pathology. Since 2008, many different and complementary animal models have been generated that develop hallmarks of CF airway disease, including the CF pig, ferret and rat...
October 5, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28981949/-result-of-prenatal-diagnosis-for-151-high-risk-women-by-noninvasive-prenatal-screening-based-on-high-throughput-sequencing
#16
Yifang Jia, Yan Zhang, Wanxiao Hao, Donghong Shi, Jinlai Meng, Heyong Zhao, Yan Lian, Luwen Xie, Xietong Wang
OBJECTIVE: To assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing. METHODS: One hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis. RESULTS: One hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981942/-value-of-pre-gestational-deafness-related-mutation-screening-for-the-prevention-and-intervention-of-congenital-deafness
#17
Xuejing Sun, Xinli Xing, Qingqing He, Lin Zhou, Jing Zhang, Qing Zhao, Huili Hou, Zuoming Xi
OBJECTIVE: To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness. METHODS: In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981940/-prenatal-genetic-analysis-of-a-fetus-with-wolf-hirschhorn-syndrome-and-edward-syndrome
#18
Xueping Shen, Pingya He, Rong Fang, Juan Yao, Wenwen Li
OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28981921/-mutational-analysis-and-prenatal-diagnosis-in-a-family-affected-with-hypophosphatemic-rickets
#19
Zhaotang Luan, Huanzheng Li, Lin Hu, Chong Chen, Xueqin Xu, Yanbao Xiang, Shaohua Tang
OBJECTIVE: To explore the clinical characteristics and genetic mutation in a family affected with hypophosphatemic rickets. METHODS: Whole exome sequencing (WES) was used to screen potential mutations in genomic DNA extracted from peripheral venous blood sample from the proband. Suspected mutation was confirmed with Sanger sequencing. Amniotic fluid was sampled from the proband for prenatal diagnosis. Potential maternal contamination was excluded by analysis of short tandem repeat (STR) markers...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28980302/a-retrospective-study-of-the-prevalence-and-outcomes-of-syphilis-in-pregnancy-in-a-five-year-period
#20
Emily D Ebenezer, Santosh J Benjamin, Rani D Sahni, John Aj Prakash, Hepsy Chelliah, Jiji E Mathews
OBJECTIVE: To determine the prevalence of syphilis in pregnancy and to assess the effect of syphilis on maternal and perinatal outcomes. METHODS: In a retrospective study, data were reviewed for pregnant women who tested positive for syphilis during routine prenatal screening at a center in India between January 2011 and December 2015. Women with both a positive venereal disease research laboratory (VDRL) test and a positive Treponema pallidum hemagglutination assay (TPHA) were considered to have syphilis, and their maternal and fetal outcomes were assessed...
October 5, 2017: International Journal of Gynaecology and Obstetrics
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