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https://www.readbyqxmd.com/read/29045944/prevalence-estimates-of-rare-congenital-anomalies-by-integrating-two-population-based-registries-in-tuscany-italy
#1
Alessio Coi, Michele Santoro, Anna Pierini, Sonia Marrucci, Federica Pieroni, Fabrizio Bianchi
BACKGROUND/AIMS: Population-based registries play a key role in the epidemiological surveillance of congenital anomalies (CAs). This study is aimed at improving the epidemiological surveillance and providing prevalence estimates of rare CAs using the Registry of Rare Diseases as an added data source to the Registry of Congenital Anomalies. METHODS: Cases of diagnosed rare CAs (2006-2013) were extracted from the Tuscany Registry of Rare Diseases and the Tuscany Registry of Congenital Anomalies in order to set up an integrated dataset...
September 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/29045850/comparison-of-conventional-2d-ultrasound-to-mr-imaging-for-prenatal-estimation-of-birth-weight-in-twin-pregnancy
#2
Caroline Kadji, Elisa Bevilacqua, Ivan Hurtado, Andrew Carlin, Mieke M Cannie, Jacques C Jani
BACKGROUND: During prenatal follow-up of twin pregnancies, accurate identification of birthweight and birthweight discordance is important in order to identify the high risk group and plan perinatal care. Unfortunately prenatal evaluation of birthweight discordance by 2-dimensional ultrasound (US) has been far from optimal. OBJECTIVE: To prospectively compare estimates of fetal weight based on 2-dimensional US (US-EFW) and MR imaging (MR-EFW) to actual birth weight in women carrying twin pregnancies...
October 15, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29044511/second-trimester-levels-of-fetoplacental-hormones-among-women-with-placenta-accreta-spectrum-disorders
#3
Marina Pekar-Zlotin, Yaakov Melcer, Ron Maymon, Eric Jauniaux
Human chorionic gonadotropin (hCG) and its free β-subunit (β-hCG) are exclusively synthesized by the villous trophoblast. α-Fetoprotein (AFP) is synthesized by the secondary yolk sac and fetal liver. Levels of both hormones differ between women with placenta accreta spectrum (PAS) disorders and those with non-accreta previa.(1,2) Second-trimester maternal serum levels of AFP are increased,(1) and first-trimester serum β-hCG is decreased in women with PAS,(2) compared with those with non-accreta placenta previa...
October 17, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29044348/sonographically-abnormal-placenta-an-association-with-an-increased-risk-poor-pregnancy-outcomes
#4
W D Wan Masliza, M Y Bajuri, M R Hassan, N M Naim, A Shuhaila, S Das
BACKGROUND: The placenta is a most interesting but unfortunately often ignored and misunderstood organ. Placental abnormalities, therefore, can be an "early warning system" for fetal problems. A complete prenatal sonographic examination of the placenta is an essential component as its abnormalities can have a direct effect on fetal or maternal outcomes, obstetrical management and future fertility. OBJECTIVE: To determine whether any association exists between the finding of an increased thickness of placenta, abnormal placenta shape, placental calcification, placental lake and abnormal cord insertion site at 20-22 and 30-32 weeks gestation with an increased risk of uteroplacental complications or a poor pregnancy outcome...
September 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29043710/pregnancy-in-non-communicating-rudimentary-horn-of-a-unicornuate-uterus
#5
Mania Kaveh, Abolfazl Mehdizadeh Kashi, Kambiz Sadegi, Forough Forghani
Diagnosis and management of pre-rupture stage of the pregnant horn are difficult and usually missed on a routine ultrasound scan. Also most cases are detected after rupture of pregnant horn. We presented a 28-year-oldG2 L1 woman with diagnosis of rudimentary horn pregnancy (RHP) at 14 weeks of gestation. We diagnosed her with a normal intrauterine pregnancy, whereas a pregnancy in a right-sided non-communicating rudimentary horn with massive hemoperitoneum was later discovered on laparotomy. RHP has a high risk of death for mother, so there must be a strong clinical suspicion for the diagnosis of RHP...
January 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29043695/-vascular-anomalies-in-the-neonatal-period
#6
M Bejarano, F Vicario, A Soria, F J Parri, A Albert
OBJECTIVE: Vascular anomalies in the neonatal period are a diagnostic challenge for the lack of evident signs, symptoms and follow-up, and the convenience of restricting aggressive diagnostic tests. The aim of this work is to review the characteristics of neonatal cases presented to our Vascular Anomalies Unit in the last 5 years. MATERIALS AND METHODS: All cases of suspected vascular anomaly presented to our unit before 1 month of age between 2010 and 2015 were reviewed, diagnostic tests and treatments carried out with chronology were analyzed...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29043689/-mesenteric-edema-as-a-prenatal-ultrasound-sign-of-poor-prognosis-in-gastroschisis
#7
M Dore Reyes, P Triana Junco, J L Encinas Hernández, E Alvarado Antolín, J L Bartha Rasero, V Núñez Cerezo, M Romo Muñoz, M Gómez Cervantes, A Sánchez Galán, L Martínez Martínez, M López Santamaría
INTRODUCTION/AIM OF THE STUDY: Gastroschisis is a congenital malformation with an easy and early prenatal diagnosis, however, it has a variable post-natal outcome. Our aim was to determine if certain ultrasound markers or early delivery were related with a worse postnatal outcome. PATIENTS AND METHODS: Retrospective study of a cohort of patients with gastroschisis diagnosed between 2005-2014, with emphasis on prenatal ultrasounds, gestational age at delivery and post-natal outcome...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29043688/-correlation-between-prenatal-ultrasound-and-postnatal-diagnosis-of-birth-defects
#8
F J Murcia Pascual, L Delgado Cotán, V Jiménez Crespo, F Vázquez Rueda, E Rodríguez Cano, M Miño Mora, R M Paredes Esteban
OBJECTIVES: To assess the accuracy of prenatal ultrasound diagnosis and to analyze the protocol applied for congenital defects (CD) in our environment. METHODS: Descriptive study of prenatally diagnosed CD in our area between 2004-2013. Includes: total births, fetal medicine referrals (number of consultations, ultrasound, invasive techniques) anatomical and chromosomal abnormalities, confirmed diagnoses, necropsies performed, false diagnoses, absence of prenatal diagnoses, and number and reasons for abortions (VIEs)...
July 20, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/29043280/prediction-of-adequate-prenatal-care-utilization-based-on-the-extended-parallel-process-model
#9
Sepideh Hajian, Fatemeh Imani, Hedyeh Riazi, Fatemeh Salmani
BACKGROUND: Pregnancy complications are one of the major public health concerns. One of the main causes of preventable complications is the absence of or inadequate provision of prenatal care. The present study was conducted to investigate whether Extended Parallel Process Model's constructs can predict the utilization of prenatal care services. METHODS: The present longitudinal prospective study was conducted on 192 pregnant women selected through the multi-stage sampling of health facilities in Qeshm, Hormozgan province, from April to June 2015...
October 2017: International Journal of Community Based Nursing and Midwifery
https://www.readbyqxmd.com/read/29042485/maternal-stress-during-pregnancy-and-allergic-diseases-in-children-during-the-first-year-of-life
#10
Katarzyna Smejda, Kinga Polanska, Dorota Merecz-Kot, Anna Krol, Wojciech Hanke, Joanna Jerzynska, Wlodzimierz Stelmach, Paweł Majak, Iwona Stelmach
BACKGROUND: Many recent studies indicate that prenatal maternal distress increases the risk of allergic diseases in children. The mechanisms that favor it are still unclear. OBJECTIVES: We aimed to assess the association between exposure to different kinds of prenatal stress and the occurrence of atopic dermatitis, food allergy, wheezing, and recurrent respiratory tract infections in children. METHODS: The study population consisted of 370 mother-child pairs from a Polish Mother and Child Cohort (REPRO_PL)...
October 17, 2017: Respiratory Care
https://www.readbyqxmd.com/read/29042300/pregnancy-related-low-back-pain-in-women-in-turkey-prevalence-and-risk-factors
#11
Savas Sencan, Emel Ece Ozcan-Eksi, Isa Cuce, Selcuk Guzel, Baki Erdem
OBJECTIVES: To investigate the prevalence of pregnancy-related low back pain (PRLBP) in women in Turkey, identify the factors associated with PRLBP and predict the risk of PRLBP. MATERIALS AND METHODS: This cross-sectional study included a total of 1500 pregnant women admitted to a prenatal care clinic in a secondary care hospital in Turkey between August 2011 and September 2014. All participants were asked to complete a survey questionnaire. The pregnant women who reported recurrent or continuous pain in the lumbar spine or pelvis for more than 1 week were offered a clinical examination for PRLBP by the spine physiatrist...
October 14, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29041973/the-establishment-and-application-of-preimplantation-genetic-haplotyping-in-embryo-diagnosis-for-reciprocal-and-robertsonian-translocation-carriers
#12
Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu, Yueping Zhang
BACKGROUND: Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty to distinguish in embryos between balanced and structurally normal chromosomes efficiently. METHODS: For this purpose, genome wide preimplantation genetic haplotyping (PGH) analysis was utilized based on single nucleotide polymorphism (SNP) microarray...
October 17, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/29040895/economic-analysis-of-prenatal-screening-strategies-for-down-syndrome-in-singleton-pregnancies-in-turkey
#13
Zeynep Güldem Ökem, Gökçen Örgül, Berna Tari Kasnakoglu, Mehmet Çakar, M Sinan Beksaç
OBJECTIVES: To examine the costs and outcomes of different screening strategies for Down Syndrome (DS) in singleton pregnancies. STUDY DESIGN: A decision-analytic model was developed to compare the costs and the outcomes of different prenatal screening strategies. Five strategies were compared for women under 35-year of age: 1A) triple test (TT), 2A); combined test (CT), 3A) Non-invasive Prenatal Screening Test by using cell free fetal DNA (NIPT), 4A) and 5A) NIPT as a second-step screening for high-risk patients detected by either TT, or CT respectively...
October 5, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29040815/the-role-of-folic-acid-and-selenium-against-oxidative-ethanol-damage-in-early-life-programming-a-review
#14
Mª Luisa Ojeda Murillo, Fatima Nogales Bueno, Mª Luisa Murillo Taravillo, Olimpia Carreras Sánchez
Several disorders in children, called Fetal Alcohol Spectrum Disorders (FASD), occur as result of alcohol consumption during pregnancy and lactation. They appear, at least in part, to be related to the oxidative stress that this drug generates. Ethanol metabolism generates reactive oxygen species and causes a depletion of the antioxidant molecule glutathione (GSH) leading to oxidative stress and lipid and protein damage which are related to growth retardation and neurotoxicity, increasing the incidence of FASD...
October 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29040792/future-of-days-past-neurodevelopment-and-schizophrenia
#15
Daniel R Weinberger
Since a proposal in 1986 that schizophrenia involved early neurodevelopmental deviations beginning in intrauterine life that showed varying expressivity as relevant neural systems matured, our understanding of the developmental components of the pathogenesis of schizophrenia has substantially evolved. This commentary highlights recent genetic and epigenetic evidence that prenatal development is a critical period for the expression of schizophrenia risk. Studies of gene expression have been fairly consistent in showing that genes implicated in schizophrenia show relatively greater expression during fetal than postnatal life...
October 11, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29040666/maternal-tenofovir-disoproxil-fumarate-use-during-pregnancy-is-not-associated-with-adverse-perinatal-outcomes-among-hiv-infected-east-african-women-a-prospective-study
#16
Jillian Pintye, Jared M Baeten, Connie Celum, Nelly Mugo, Kenneth Ngure, Edwin Were, Elizabeth Bukusi, Grace John-Stewart, Renee A Heffron
Background: Tenofovir disoproxil fumarate (TDF) is commonly used in antiretroviral treatment (ART) and pre-exposure prophylaxis regimens. We evaluated the relationship between adverse perinatal outcomes and prenatal TDF use. Methods: Longitudinal data were analyzed from HIV-infected women who became pregnant during two HIV prevention studies conducted among HIV-serodiscordant couples in Kenya and Uganda. Pregnancies were included if singleton, not terminated by an induced abortion and had documentation of 3-drug ART use...
October 10, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29039230/effect-of-prenatal-waterpipe-tobacco-smoke-on-airway-inflammation-in-murine-model-of-asthma-of-adult-offspring-mice
#17
Nour A Al-Sawalha, Hanadi F Al-Bo'ul, Karem H Alzoubi, Omar F Khabour, Vaidehi J Thanawala
OBJECTIVE: Worldwide popularity of waterpipe tobacco smoking has increased, including in pregnant women. This study investigates the effect of prenatal waterpipe tobacco smoke (WTS) exposure on airway inflammation in a murine model of asthma of adult offspring mice. MATERIALS AND METHODS: Pregnant BALB/c mice were exposed to fresh air or WTS, using a whole-body exposure system that mimics human use during WTS. Adult male offspring mice were divided into; (1) control (prenatal fresh air, postnatal ovalbumin sensitization and saline challenge), (2) postnatal Ova S/C (prenatal fresh air, postnatal ovalbumin sensitization and challenge (Ova S/C)), (3) prenatal WTS (prenatal WTS, postnatal ovalbumin sensitization and saline challenge) and (4) prenatal WTS + postnatal Ova S/C...
July 2017: Inhalation Toxicology
https://www.readbyqxmd.com/read/29039169/-prenatal-diagnosis-of-joubert-syndrome-one-case-report-and-literature-review
#18
Hong Wen, Lu Chen, Kai Yan, Jing He
A 25-year-old nulliparity underwent prenatal ultrasonography, and the fetal cerebellar abnormality was suspected. The fetal MRI showed 'molar tooth sign' in midbrain and cerebellar vermis hypoplasia. The fetal cerebellar vermis hypoplasia was confirmed by MRI imaging and autopsy after induced abortion. The next-generation sequencing showed that the fetus had a heterozygous mutation of CC2D2A gene (c.2728C > T and c.4598T > C), which might be the cause of the disease.
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039168/-maternal-serum-alpha-fetoprotein-and-free-%C3%AE-hcg-of-second-trimester-for-screening-of-fetal-gastroschisis-and-omphalocele
#19
Yiming Chen, Wen Zhang, Sha Lu, Jin Mei, Hao Wang, Shan Wang, Linyuan Gu, Lidan Zhang, Xuelian Chu
OBJECTIVE: To assess the detection of maternal serum alpha fetoprotein (MSAFP) and free beta-HCG levels of second trimester for screening of fetal gastroschisis and omphalocele. METHODS: Clinical data of 622 639 pregnant women from 5 prenatal screening centers in Hangzhou during October 2007 and September 2016 were analyzed retrospectively. Thirty cases of gastroschisis and 30 cases of omphalocele diagnosed by ultrasonography and postmortem findings were enrolled in the study and 116 cases of pregnant women with normal fetal development during the same period were selected as control group...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039166/-detection-of-cell-free-fetal-dna-in-maternal-plasma-for-noninvasive-prenatal-screening-of-fetal-chromosomal-aneuploidies-in-women-of-advanced-maternal-age
#20
Hui Zhu, Zhengyou Miao, Yeqing Qian, Hongge Li, Jinglei Jin, Jing He, Minyue Dong
OBJECTIVE: To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. METHODS: A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
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