keyword
MENU ▼
Read by QxMD icon Read
search

Prenatal screening

keyword
https://www.readbyqxmd.com/read/28815989/can-we-improve-risk-communication-about-non-invasive-prenatal-testing
#1
Dafina Petrova, Rocio Garcia-Retamero
Diagnostic information from prenatal screening for Down syndrome can help families prepare for the birth of a child with special needs or help them decide whether they want to continue with the pregnancy. Currently in the UK women are offered the combined screening test (a blood test and an ultrasound) that categorizes them into "higher risk" or "lower risk" groups (see www.nhs.uk). Women at higher risk are offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These diagnostic tests are invasive and carry a 0...
August 17, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28812464/congenital-diaphragmatic-hernia-with-liver-herniation-into-the-pericardial-sac-in-a-30-week-gestation-infant
#2
Nisha Patel, Christina Sollinger, Carl T D'Angio, Jeffrey M Vinocur, Kate G Ackerman, Philip J Katzman
Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30-week gestation female with an anterior midline diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812324/parents-adverse-childhood-experiences-and-mental-health-screening-using-home-visiting-programs-a-pilot-study
#3
Katie Johnson, Alicia Woodward, Sadie Swenson, Christine Weis, Margene Gunderson, Marilyn Deling, Valeria Cristiani, Brian Lynch
BACKGROUND: Adverse childhood experiences (ACEs) are associated with adult high-risk behaviors and diseases. There is value in screening parents for ACEs given the repercussions parental ACEs may have on parenting behaviors and child development. The primary aim of this study was to assess the feasibility of parental ACE screening in the home setting. A secondary aim was to evaluate whether or not maternal ACEs correlated with maternal mental health measures. METHODS: Two home visiting programs that support early childhood development and conduct parental mental health screening implemented ACE screening for parents of infants <1 year of age...
August 15, 2017: Public Health Nursing
https://www.readbyqxmd.com/read/28811121/emergency-department-use-in-the-perinatal-period-an-opportunity-for-early-intervention
#4
Saloni Malik, Catherine Kothari, Colleen MacCallum, Michael Liepman, Shama Tareen, Karin V Rhodes
STUDY OBJECTIVE: We characterize emergency department (ED) utilization among perinatal women and identify differences in risk factors and outcomes between women who use versus do not use the ED during the perinatal period. METHODS: This is a retrospective cross-sectional study comparing patients who used the ED versus did not use the ED during the perinatal period. Patient data were collected from medical chart review and postpartum interviews. RESULTS: Of the 678 participants, 218 (33%) had at least 1 perinatal ED visit...
August 12, 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28810181/screening-performance-for-callosal-agenesis-in-prenatal-life-single-center-study
#5
Hubert Huras, Magdalena Nowak, Izabela Herman-Sucharska, Malgorzata Radon-Pokracka, Agnieszka Nocun, Marcin Wiechec
OBJECTIVES: 1) To analyze screening performance of second trimester scan for ACC, 2) to evaluate the agreement between ultrasound and MRI and 3) to compare prenatal and postnatal diagnosis. METHODS: It was a prospective observational study. All patients with fetuses suspected of ACC were referred to prenatal MRI (pMRI). RESULTS: One subject was not confirmed by pMRI with the diagnosis of ACC. This case demonstrated partial ACC in neonatal MRI (nMRI)...
August 1, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#6
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
August 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#7
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#8
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28797149/-investigation-of-pregestational-diabetes-mellitus-in-15-hospitals-in-guangdong-province
#9
H T Chen, S Q Deng, Z Y Li, Z L Wang, Q Li, J K Gao, Y H Zhong, D M Suo, L N Lu, S L Pan, H X Chen, Y Y Cui, J H Fan, J Y Wen, L R Zhong, F Z Han, Y H Wang, S J Hu, P P Liu
Objective: To investigate the morbidity, diagnostic profile and perinatal outcome of pregestational diabetes mellitus (PGDM) in 15 hospitals in Guangdong province. Methods: A total of 41 338 women delivered in the 15 hospitals during the 6 months, 195 women with PGDM (PGDM group) and 195 women with normal glucose test result (control group) were recruited from these tertiary hospitals in Guangdong province from January 2016 to June 2016. The morbidity and diagnostic profile of PGDM were analyzed. The complications during pregnancy and perinatal outcomes were compared between the two groups...
July 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28795359/the-diagnostics-of-human-steroid-hormone-disorders
#10
Małgorzata Dobosz, Aneta Manda-Handzlik, Beata Pyrżak, Urszula Demkow
Disturbances of the steroidogenesis or altered peripheral metabolism of steroids may result in severe clinical manifestations. Therefore, prompt diagnosis and initiation of medical treatment are desirable. The diagnostics of disorders of steroid hormone production, metabolism, and action have been previously based on immunoassay tests. However, in a modern medical laboratory, due to low accuracy of immunoassays, this technique is continuously replaced by chromatographic separation methods coupled to mass spectrometric detection systems...
August 10, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28792998/validation-of-qf-pcr-for-prenatal-diagnoses-in-a-brazilian-population
#11
Renata Wendel de Moraes, Mario Henrique Burlacchini de Carvalho, Antonio Gomes de Amorim-Filho, Rossana Pulcineli Vieira Francisco, Renata Moscolini Romão, José Eduardo Levi, Marcelo Zugaib
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes...
July 2017: Clinics
https://www.readbyqxmd.com/read/28792712/external-quality-assessment-of-first-trimester-prenatal-biochemical-screening-in-china
#12
Shishi Zhang, Xiaoyan Zhang, Wei Wang, Falin He, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: Free β subunit of human chorionic gonadotropin (free β-hCG) and pregnancy-associated plasma protein A (PAPP-A) are two important biomarkers in first-trimester prenatal screening. This study intended to reflect their analytical performance in clinical laboratories and main platforms of the 2015 External Quality Assessment (EQA) scheme for the first-trimester biochemical screening in China. METHODS: Ten lyophilized EQA samples, divided into two sets and analyzed in two cycles 20151 and 20152, were distributed to each participant in 2015...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28790549/genetic-counseling-and-prenatal-diagnosis-of-triploidy-during-the-second-trimester-of-pregnancy
#13
Milenko Kolarski, Begzudin Ahmetovic, Maja Beres, Radomir Topic, Vedran Nikic, Ivana Kavecan, Semin Sabic
INTRODUCTION: Triploidy is a lethal chromosomal numeric abnormality, characterized on extra haploid set of chromosomes. It occurs in 2 to 3% of conceptuses and accounts for approximately 20% of chromosomally abnormal first-trimester miscarriages. As such, triploidy is estimated to occur in 1 of 3,500 pregnancies at 12 weeks', 1 in 30,000 at 16 weeks', and 1 in 250,000 at 20 weeks' gestation. CASE REPORT: We present a case of second-trimester triploidy diagnosed prenataly at our center...
April 2017: Medical Archives
https://www.readbyqxmd.com/read/28782502/society-for-maternal-fetal-medicine-smfm-consult-series-43-hepatitis-c-in-pregnancy-screening-treatment-and-management
#14
Brenna L Hughes, Charlotte M Page, Jeffrey A Kuller
In the United States, 1-2.5% of pregnant women are infected with hepatitis C virus (HCV), which carries an approximately 5% risk of transmission from mother to infant. HCV can be transmitted to the infant in utero or during the peripartum period, and infection during pregnancy is associated with increased risk of adverse fetal outcomes, including fetal growth restriction and low birth weight. The purpose of this document is to discuss the current evidence regarding HCV in pregnancy and to provide recommendations on screening, treatment, and management of this disease during pregnancy...
August 3, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28777865/-results-of-thalassemia-screening-and-genetic-diagnosis-for-13-738-pregnant-women
#15
Yuanyuan Han, Wei Dai, Xingmei Liu, Guifang Li, Yin Xu, Xingwei Ma, Yuanyuan Li, Wenping Han, Nannan Yang, Qin Xu, Ling Huang, Shengwen Huang
OBJECTIVE: To report on the result of thalassemia screening and genetic diagnosis for pregnant women from Guiyang region. METHODS: Prenatal screening for thalassemia was carried out based on erythrocyte parameters and hemoglobin electrophoresis. Single-tube multiplex GAP-PCR and PCR-reverse dot blot hybridization were performed on suspected cases to identify common alpha- and beta- thalassemia mutations, and direct sequencing was used for identifying rare mutations...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28770881/molecular-genetics-and-prenatal-diagnosis-of-beta-thalassemia-to-control-transfusion-dependent-births-in-carrier-pakistani-couples
#16
Sumaira Kanwal, Sehrish Bukhari, Shazia Perveen
OBJECTIVE: To examine molecular genetics and prenatal diagnosis of beta-thalassaemia. METHODS: The study was conducted at the COMSATS Institute of Information Technology, Sahiwal, Pakistan, from October 2012 to October 2013, and comprised families having children affected by thalassaemia and autosomal recessive b-thalassemia. Blood samples of thalassaemic children and their parents were collected from different areas of Pakistan. They were screened for reported mutations through amplification refractory mutation system-polymerase chain reaction...
July 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28770443/how-to-proceed-with-examination-of-a-child
#17
REVIEW
Sonia Makhija, Poornima Tiwari
The assessment of a child is quite different from that of adults and requires knowledge of normal variations in anatomy and physiology with growth and development. An important part of initial assessment includes triage and recognizing children with emergency signs so that they can be managed at the earliest to prevent death and referred timely to the specialist. After ruling out emergency signs, the children with priority signs require prompt assessment, management and referral to the specialist. In addition to normal history as in adults, prenatal and birth history, developmental history, immunization history, feeding history and social history are important for complete assessment of the child...
August 3, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28770341/prenatal-depression-screening-and-antidepressant-prescription-obstetrician-gynecologists-practices-opinions-and-interpretation-of-evidence
#18
Laura H Taouk, Kristen A Matteson, Lauren M Stark, Jay Schulkin
Obstetrician-gynecologists (ob-gyns) are well-positioned to detect symptoms of perinatal depression; however, little is known about how ob-gyns respond. The purpose of this study was to evaluate ob-gyns' beliefs and practices related to prenatal depression screening and antidepressant prescription during pregnancy. A larger survey on prenatal medication was developed at the American College of Obstetricians and Gynecologists (ACOG) and distributed to a sample of 1000 Fellows. The overall response rate was 37...
August 2, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/28764665/factors-influencing-timely-initiation-and-completion-of-gestational-diabetes-mellitus-screening-and-diagnosis-a-qualitative-study-from-tamil-nadu-india
#19
Karoline Kragelund Nielsen, Thilde Rheinländer, Anil Kapur, Peter Damm, Veerasamy Seshiah, Ib C Bygbjerg
BACKGROUND: In 2007, universal screening for gestational diabetes mellitus (GDM) was introduced in Tamil Nadu, India. To identify factors hindering or facilitating timely initiation and completion of the GDM screening and diagnosis process, our study investigated how pregnant women in rural and urban Tamil Nadu access and navigate different GDM related health services. METHODS: The study was carried out in two settings: an urban private diabetes centre and a rural government primary health centre...
August 1, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28764586/retrospective-analysis-of-4761-cases-who-underwent-amniocentesis-in-southeast-china
#20
Hehua Tao, Jianping Xiao, Canfeng Yang, Jun Wang, Ye Tang, Caiqin Guo, Junfeng Wang
The aim of this study was to examine the clinical and cytogenetic results of 4761 amniocentesis (AS) cases retrospectively in our clinic in southeast China. The prenatal diagnosis indications, detected chromosomal anomalies and the detection rate of chromosomal abnormalities were studied in 4761 patients who underwent AS between June 2014 and July 2016 retrospectively. Chromosomal abnormality was detected in 137 (2.88%) of the 4761 samples (89.1% numerical, 10.9% structural). The most frequent numerical chromosomal abnormality was trisomy 21 (59...
August 1, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
keyword
keyword
5827
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"