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Antenatal diagnosis

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https://www.readbyqxmd.com/read/28429364/application-of-gene-detection-technique-in-the-antenatal-diagnosis-of-hereditary-hearing-loss
#1
Y Fang, M-S Gu, F Suo, C-X Wang, X-H Liu, F-M Liu
OBJECTIVE: Gene chip and gene sequencing techniques were used to detect the main pathogenic genes in pregnant women with hereditary hearing loss. PATIENTS AND METHODS: From May 2015 to May 2016, 1080 pregnant in Xuzhou Maternal and Child Health Hospital were enrolled in this study. Women age range was 18 to 40 years. 4 genes and 9 mutation sites, including 4 sites (35delG, 176, 235delC and 299) in GJB2 gene, 2 sites (2168A>G and IVS-7-2A>G) in SLC26A4 (PDS) gene, 2 sites (1494C>T and 1555A>G) in 12s rRNA gene and 1 site (538C>T) in GJB3 gene, were detected using the GeeDom® 9-item hereditary hearing loss gene detection kit...
April 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28428000/selected-oxidative-stress-biomarkers-in-antenatal-diagnosis-as-11-14-gestational-weeks
#2
Marek Pietryga, Piotr Dydowicz, Kinga Toboła, Marta Napierała, Izabela Miechowicz, Anna Gąsiorowska, Maciej Brązert, Ewa Florek
The primary objective in modern obstetrics and prenatal diagnosis is to predict risks of congenital abnormalities. The aim of the research was to assess the correlation between selected oxidative stress biomarkers with the risk of foetal chromosomal aberration evaluated at the first trimester screening. A series of studies show that balanced free radical activity and oxidative homeostasis are essential for proper bodily growth and function. Reactive oxygen species (ROS) may be one of the factors associated with disruption of cell cycle and tissue development, thus leading to developmental abnormalities...
April 17, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28419500/antepartum-management-and-obstetric-outcomes-among-pregnancies-with-down-syndrome-from-diagnosis-to-delivery
#3
Stephanie H Guseh, Sarah E Little, Katherine Bennett, Virginia Silva, Louise E Wilkins-Haug
OBJECTIVE: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management. METHOD: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. We reviewed demographic data, diagnostic testing, antenatal surveillance, obstetrics outcomes, and placental pathology. T-test, chi-square, and Fisher correction were used as indicated...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28414017/the-prevalence-of-antenatal-and-postnatal-co-morbid-anxiety-and-depression-a-meta-analysis
#4
K Falah-Hassani, R Shiri, C-L Dennis
To date, the precise prevalence of co-morbidity of anxiety and depression in the perinatal period is not well known. We aimed to estimate the prevalence of co-morbid anxiety and depression in the antenatal and postnatal periods. Systematic searches of multiple electronic databases were conducted for studies published between January 1950 and January 2016. We included 66 (24 published and 42 unpublished) studies incorporating 162 120 women from 30 countries. Prevalence of self-reported antenatal anxiety symptoms and mild to severe depressive symptoms was 9...
April 17, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28409752/early-appearance-of-tuberous-sclerosis-complex-on-cerebral-ultrasound-in-extremely-preterm-infant
#5
E B F Terpstra-Prinsen, K Kamphuis-Van Ulzen, K D Liem
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Diagnosis of early onset TSC in newborn infants is usually made by cardiac ultrasound because of circulatory problems due to cardiac rhabdomyoma. Early appearance of cortical tubers on cerebral ultrasound in newborn infants is very rare. Mostly TSC is diagnosed on MRI and not by cerebral ultrasound. Subependymal nodules are the usual presenting sign of TSC on cerebral ultrasound in neonates, which are often misdiagnosed as subependymal hemorrhage, calcifications or ischemic lesions after intrauterine germinal matrix hemorrhage...
April 8, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28407452/uptake-and-performance-of-prevention-of-mother-to-child-transmission-and-early-infant-diagnosis-in-pregnant-hiv-infected-women-and-their-exposed-infants-at-seven-health-centres-in-addis-ababa-ethiopia
#6
Marshet Girma, Rahel Wendaferash, Hailu Shibru, Yemane Berhane, Michael Hoelscher, Arne Kroidl
OBJECTIVE: To assess the uptake of WHO-recommended PMTCT procedures in Ethiopia's health services. METHODS: Prospective observational study of HIV-positive pregnant mothers and their newborns attending PMTCT services at seven health centres in Addis Ababa. Women were recruited during antenatal care and followed-up with their newborns at delivery, day 6 and week 6 postpartum. Retention to PMCTC procedures, self-reported ART adherence, and HIV infant outcome were assessed...
April 13, 2017: Tropical Medicine & International Health: TM & IH
https://www.readbyqxmd.com/read/28403863/laparoscopic-resection-of-gastric-duplication-cysts-in-newborns-a-report-of-five-cases
#7
Hong-Xia Ren, Li-Qiong Duan, Xiao-Xia Wu, Bao-Hong Zhao, Yuan-Yuan Jin
BACKGROUND: Gastric duplication cysts are rare congenital alimentary tract anomalies and most cases are recognized during childhood. There were few reports about gastric duplication cysts in newborns and even fewer reports about laparoscopic resection of gastric duplication cysts in newborns. CASE PRESENTATION: We report a series of five newborns with gastric duplication cysts which were successfully resected by laparoscopy between January 2010 and April 2015. Case 1, a male newborn was admitted because of severe salivation, choking cough and dyspnea for 30 min after birth...
April 12, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28396767/prenatal-diagnosis-of-bardet-biedl-syndrome-in-a-case-of-hyperechogenic-kidneys-clinical-use-of-dna-sequencing
#8
Santiago Garcia-Tizon Larroca, Vangeliya Blagoeva Atanasova, Maria Orera Clemente, Anna Aluja Mendez, Virginia Ortega Abad, Ricardo Perez Fernandez-Pacheco, Juan De León Luis, Francisco Gamez Alderete
Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28395677/tuberous-sclerosis-complex-in-the-western-cape-south-africa-the-clinical-presentation-features
#9
E Kija, B Schlegel, P Samia, M Wessels, J M Wilmshurst
Tuberous sclerosis complex (TSC) is a genetic neurocutaneous condition, which affects multiple organ systems. This study aimed to determine the presenting features of children with TSC in Cape Town, South Africa. A cross-sectional study was conducted at a TSC clinic, and clinical features at presentation were prospectively collected. Thirty-nine children (23 boys; median age 10 (range 1 - 26) years; median diagnosis age 16 (0 - 153) months) were recruited. Twenty-one (54%) children presented with focal seizures...
March 29, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28394716/lethal-congenital-malformations-in-fetuses-antenatal-ultrasound-or-perinatal-autopsy
#10
Sumit Grover, Bhavna Garg, Neena Sood, Kamaldeep Arora
BACKGROUND: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). METHODS: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. RESULTS: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32...
April 10, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28393283/association-of-gender-disadvantage-factors-and-gender-preference-with-antenatal-depression-in-women-a-cross-sectional-study-from-rural-maharashtra
#11
Pallavi Shidhaye, Rahul Shidhaye, Vaishali Phalke
PURPOSE: Maternal depression is a major public health problem in low- and middle-income countries including India. Very few studies have assessed association of various risk factors with antenatal depression in rural Indian women, especially the effect of marital conflict, gender disadvantage and gender preference on antenatal depression. This paper describes the prevalence of probable antenatal depression in rural Maharashtra, a state in the western part of India and specifically assesses the association of marital and gender disadvantage factors and gender preference for a male child with antenatal depression...
April 9, 2017: Social Psychiatry and Psychiatric Epidemiology
https://www.readbyqxmd.com/read/28391132/antenatal-prognostic-factor-of-fetal-echogenic-bowel
#12
Candice Ronin, Pierre Mace, Fabien Stenard, Anderson Loundou, Marianne Capelle, Isabelle Mortier, Marie Christine Pellissier, Sabine Sigaudy, Annie Levy, Claude D'ercole, Pascale Hoffmann, Thierry Merrot, Jonathan Lopater, Pascal De Lagausie, Nicole Philip, Florence Bretelle
OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Associated echographic findings such as bowel dilations, gallbladder abnormalities, calcifications, extra-abdominal abnormalities, intrauterine growth restriction (IUGR) and a decrease in amniotic fluid volume, if present were also recorded...
March 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28386505/the-child-as-a-surrogate-for-diagnosis-of-lupus-in-the-mother
#13
Olufemi O Adelowo, Kenneth A Ohagwu, Ejiehi E Aigbokhan, Richard O Akintayo
Introduction. Neonatal lupus erythematosus (NLE) is an acquired disease of the newborn caused by transplacental transfer of maternal anti-Ro/SSA, anti-La/SSB, and infrequently anti-U1 RNP antibodies. Methodology. This is a case report of a male infant delivered via Caesarean section at 36-week gestation following detection of fetal bradycardia during routine antenatal clinic visit. Results. The mother was seropositive for antinuclear antibody (ANA) and anti-Ro/SSA and had elevated erythrocyte sedimentation rate...
2017: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/28384937/attitude-of-reproductive-healthcare-providers-to-prenatal-diagnosis-in-a-low-resource-nigerian-setting
#14
Leonard Ogbonna Ajah, Silas Alegu Nwali, Christopher Chim Amah, Theophilus Ogochukwu Nwankwo, Lucky Osaheni Lawani, Benjamin Chukwuma Ozumba
INTRODUCTION: Prenatal diagnosis comprises all diagnostic modalities aimed at gaining information about the embryo or fetal wellbeing. It enables antenatal care tailored to the individual need(s) of the fetus. AIM: To determine the knowledge, practice and prospect of prenatal diagnosis among reproductive health care providers in Abakaliki, Nigeria. MATERIALS AND METHODS: This was a cross-sectional descriptive study in which completely filled self-administered semi-structured questionnaires were retrieved from 182 reproductive healthcare providers at Federal Teaching Hospital, Abakaliki (FETHA)...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28372492/prenatally-diagnosed-congenital-portosystemic-shunts
#15
Bérengère Francois, Alain Lachaux, Fréderic Gottrand, Stéphanie De Smet
AIM: Congenital portosystemic shunts (CPSS) are rare, congenital malformations that are increasingly often discovered during the fetal period, and for which, the manifestations and evolution are poorly understood. The objective of this review is to describe the phenotype and evolution of forms diagnosed in the antenatal period. MATERIALS AND METHODS: We performed a systematic review of the literature cited in Pubmed between 1982 and 2016 for CPSS cases diagnosed during the fetal period...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28372477/dilated-cerebral-venous-system-observed-in-growth-restricted-fetuses
#16
Joel Baron, Salvatore Andrea Mastrolia, Ilan Shelef, Dan Tirosh, Etty Daniel-Spiegel, Reli Hershkovitz
PURPOSE: The dilation of the fetal cerebral veins is a rare phenomenon that may be associated to a bad obstetric outcome, and is usually connected to antenatal thrombosis of the posterior dural venous sinuses. There are several descriptions of cerebral vein distension on magnetic resonance imaging (MRI), but all of them are detected postnatally. We present herein two cases of fetal antenatal cerebral dilation of the venous system, without any association to any sign of vein thrombosis, and a systematic review of literature regarding pathogenesis, diagnosis and outcomes associated to the antenatal detection of this condition with the use of MRI...
April 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28369907/who-is-and-isn-t-having-babies-with-down-syndrome-in-western-sydney-a-ten-year-hospital-cohort-study
#17
Rebecca M Moses, James H W Brown, Dale C Wright, Hayley Diplock, Sarah J Melov, Therese Mary McGee
BACKGROUND: Screening for Down syndrome (DS) is a key component of antenatal care, recommended to be universally offered to women irrespective of age or background. Despite this, the diagnosis of DS is often not made until the neonatal period. AIMS: To retrospectively describe and compare the differences in populations with an antenatal diagnosis (AD) and neonatal diagnosis (ND) of DS and to explore why an antenatal diagnosis was not made. MATERIALS AND METHODS: The cohorts were women cared for at Westmead Hospital whose pregnancy received a diagnosis of DS between 2006 and 2015...
March 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28364566/identifying-gaps-in-hiv-service-delivery-across-the-diagnosis-to-treatment-cascade-findings-from-health-facility-surveys-in-six-sub-saharan-countries
#18
Kathryn Church, Kazuyo Machiyama, Jim Todd, Brian Njamwea, Mary Mwangome, Vicky Hosegood, Janet Michel, Samuel Oti, Constance Nyamukapa, Amelia Crampin, Nyaguara Amek, Gertrude Nakigozi, Denna Michael, F Xavier Gómez-Olivé, Jessica Nakiyingi-Miiro, Basia Zaba, Alison Wringe
INTRODUCTION: Despite the rollout of antiretroviral therapy (ART), challenges remain in ensuring timely access to care and treatment for people living with HIV. As part of a multi-country study to investigate HIV mortality, we conducted health facility surveys within 10 health and demographic surveillance system sites across six countries in Eastern and Southern Africa to investigate clinic-level factors influencing (i) use of HIV testing services, (ii) use of HIV care and treatment and (iii) patient retention on ART...
January 12, 2017: Journal of the International AIDS Society
https://www.readbyqxmd.com/read/28359305/antenatal-nephromegaly-and-propionic-acidemia-a-case-report
#19
Ségolène Bernheim, Georges Deschênes, Manuel Schiff, Isabelle Cussenot, Olivier Niel
BACKGROUND: Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening test has been described, in particular no correlations between prenatal sonography and PA have been documented so far. CASE PRESENTATION: We report the case of a boy with fetal bilateral nephromegaly and hyperechogenic kidneys, along with neonatal acute kidney injury; no etiology could be found in the first months of life...
March 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28348910/a-wandering-abdominal-mass-in-a-neonate-an-enteric-duplication-cyst-mimicking-an-ovarian-cyst
#20
Shigeo Iijima
Enteric duplication cysts are rare congenital anomalies that are prenatally diagnosed through antenatal ultrasonography (US). In female patients, however, attention must be paid since these formations might be confused with ovarian cysts. Herein, we present a case of a low birth weight female infant with an enteric duplication cyst. A cystic lesion was detected in the right abdomen of the fetus on antenatal US and magnetic resonance imaging (MRI). Serial US and MRI examinations performed after birth showed a single cyst that wandered from side to side in the abdomen; the initial diagnosis was thought to be an ovarian cyst...
2017: Case Reports in Pediatrics
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