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Prenatal screening

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https://www.readbyqxmd.com/read/29234782/newborn-screening-of-genetic-mutations-in-common-deafness-genes-with-bloodspot-based-gene-chip-array
#1
Xuehu He, Xiuzhong Li, Yaqi Guo, Yue Zhao, Hui Dong, Jie Dong, Li Zhong, Zhiyun Shi, Yuying Zhang, Mario Soliman, Chunhua Song, Zhijun Zhao
Purpose: This study screens for deafness gene mutations in newborns in the Northwest China population. Method: The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns. Results: We detected mutations of the 4 genes in 101 (4.04%) newborns; particularly, 0.20% detected the double mutations. In the Hui population, 4.58% of the newborns tested positive for mutations, whereas 4...
December 12, 2017: American Journal of Audiology
https://www.readbyqxmd.com/read/29233624/first-and-second-trimester-screening-for-fetal-structural-anomalies
#2
REVIEW
Lindsay Edwards, Lisa Hui
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata...
December 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29233487/genetic-counselling-patient-education-and-informed-decision-making-in-the-genomic-era
#3
REVIEW
Sylvia A Metcalfe
Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices...
December 7, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29231186/-psychometric-properties-of-postpartum-depression-predictors-inventory-revised-prenatal-version-in-a-sample-of-spanish-pregnant-women
#4
María de la Fe Rodríguez-Muñoz, Laura Vallejo Slocker, María Eugenia Olivares Crespo, Nuria Izquierdo Méndez, Cristina Soto, Huynh-Nhu Le
OBJECTIVE: Prenatal depression is a major public health problem, therefore predicting and preventing it is a relevant objective for public health agendas. Consequently, it is important to have adequate screening tools to detect risk factors associated with prenatal depression. The aim of this study was to evaluate the psychometric properties reliability and factor structure of the Spanish version of the Postpartum Depression Predictors Inventory- Revised- Prenatal Version (PDI-R) in pregnant women who attend prenatal care in an urban hospital in Spain...
December 4, 2017: Revista Española de Salud Pública
https://www.readbyqxmd.com/read/29226487/prenatal-diagnostic-testing-and-atypical-chromosome-abnormalities-following-combined-first-trimester-screening-implications-for-contingent-models-of-non-invasive-prenatal-testing
#5
Anthea Lindquist, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVES: To perform a population-based analysis of a combined first trimester screening (CFTS) cohort for (i) changes in uptake of invasive prenatal diagnosis by CFTS risk, and (ii) prevalence and methods of ascertainment of atypical chromosome abnormalities. METHODS: Retrospective cohort study of state-wide prenatal datasets from Victoria, Australia. A three-step approach was undertaken: i) record-linkage between serum screening and diagnostic results; ii) comparison of rates of diagnostic testing by CFTS risk categories in a 2014-15 CFTS cohort with a historical cohort from 2002-04; (iii) detailed analysis of atypical abnormalities from 2014-15 by CFTS risk, individual serum analyte level and indications for diagnostic testing...
December 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29221765/advances-in-fetal-echocardiography
#6
REVIEW
Helena M Gardiner
The development of fetal echocardiography and success in prenatal cardiac screening programs over the past 30 years has been driven by technical innovation and influenced by the different approaches of the various specialties practicing it. Screening for congenital heart defects no longer focuses on examining a limited number of pregnant women thought to be at increased risk, but instead forms an integrated part of a high-quality anatomical ultrasound performed in the second trimester using the 'five-transverse view' protocol...
December 5, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29221715/corrigendum-to-aiding-risk-information-learning-through-simulated-experience-arise-using-simulated-outcomes-to-improve-understanding-of-conditional-probabilities-in-prenatal-down-syndrome-screening-patient-educ-counselling-100-october-10-2017-1882-1889
#7
https://www.readbyqxmd.com/read/29221334/minimally-invasive-multi-disciplinary-approach-for-surgical-management-of-a-mediastinal-congenital-bronchogenic-cyst-in-a-6-month-old-infant
#8
Xiao-Hua Li, Tao Zhang, Sheng Wang, Biao-Chuan He, Xue-Ning Yang, Wen-Zhao Zhong, Ji-Mei Chen
We present a case of prenatal diagnosis of a mediastinal cyst by ultrasound, confirmed during infancy through computed tomography (CT) and magnetic resonance imaging (MRI). A 6-month-old male infant was admitted to the hospital. A mid-mediastinal cyst was detected through a province-wide fetal ultrasonography screening program. During the infancy stage, the CT scan and the MRI confirmed the finding of a mediastinal cyst. Based on the findings on prenatal ultrasonography and postnatal imaging studies (CT, MRI), a benign mediastinal cyst was suspected...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29221193/steroidogenic-factor-1-hypermethylation-in-maternal-rat-blood-could-serve-as-a-biomarker-for-intrauterine-growth-retardation
#9
Dong-Mei Wu, Liang-Peng Ma, Gui-Li Song, Yong Long, Han-Xiao Liu, Yang Liu, Jie Ping
Intrauterine growth retardation (IUGR) is a common obstetric complication lacking an optimal method for prenatal screening. DNA methylation profile in maternal blood holds significant promise for prenatal screening. Here, we aimed to screen out potential IUGR biomarkers in maternal blood from the perspective of DNA methylation. The IUGR rat model was established by prenatal maternal undernutrition. High-throughput bisulfite sequencing of genomic DNA methylation followed by functional clustering analysis for differentially methylated region (DMR)-associated genes demonstrated that genes regulating transcription had the most significantly changed DNA methylation status in maternal blood with IUGR...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29219113/diagnostic-role-of-microrna-expression-profile-in-the-prenatal-amniotic-fluid-samples-of-pregnant-women-with-down-syndrome
#10
Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu
BACKGROUND: Down syndrome is the most common chromosomal anomaly in humans. Down syndrome is the most common chromosomal anomaly in humans affecting people from every race and age. Most of the cases are can be diagnosed by prenatal diagnostic methods in pregnancy. Due to the longtime of culture method applied for prenatal diagnosis, genetic analysis has been developed and developing for rapid diagnosis. For this reason, the effective use of miRNAs was investigated in the rapid analysis of prenatal samples with Down syndrome...
December 8, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29216774/chinese-fetal-biometry-reference-equations-and-comparison-with-charts-from-other-populations
#11
Yixiu Zhang, Hua Meng, Yuxin Jiang, Zhonghui Xu, Yunshu Ouyang, Shengli Li, Qian Chen, Qingqing Wu, Rui Li, Tong Ru, Aailu Cai, Xinlin Chen, Taizhu Yang, Ping Chen, Hongning Xie, Hong Lu, Qing Dai, Fen Dong, Meng Yang, Xiao Yang, Jia Lu, Jiawei Tian, Kun Sun, Hui Li
OBJECTIVE: This study aimed to construct new reference charts and equations for fetal biometry from Chinese fetuses at 15-40 weeks and to compare them with previous references. METHOD: This was a prospective, cross-sectional study of singleton pregnancies in patients with a confirmed gestational age who underwent ultrasound examinations between the 15th and 40th weeks of gestation. Each woman was selected only once for this study. Biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL) were recorded...
December 7, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29216282/sequential-combined-test-second-trimester-maternal-serum-markers-and-circulating-fetal-cells-to-select-women-for-invasive-prenatal-diagnosis
#12
Paolo Guanciali Franchi, Chiara Palka, Elisena Morizio, Giulia Sabbatinelli, Melissa Alfonsi, Donatella Fantasia, Giammaria Sitar, Peter Benn, Giuseppe Calabrese
From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD). The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated), 1:31 to 1:899 (second trimester screening indicated) and ≤1:900 (no further action), and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results...
2017: PloS One
https://www.readbyqxmd.com/read/29216009/the-first-trimester-aneuploidy-biochemical-markers-in-ivf-icsi-patients-have-no-additional-benefit-compared-to-spontaneous-conceptions-in-the-prediction-of-pregnancy-complications
#13
Iwona Szymusik, Przemyslaw Kosinski, Katarzyna Kosinska-Kaczynska, Damian Warzecha, Anetta Karwacka, Bartosz Kaczynski, Miroslaw Wielgos
OBJECTIVES: The aim of this study was to determine if the levels of biochemical aneuploidy markers in in vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) pregnancies differ from those in spontaneous pregnancies and to verify if biochemical markers could predict pregnancy outcome in IVF/ICSI gestations. METHODS: This was a prospective observational study performed in a group of 551 patients who underwent a combined first trimester prenatal screening (ultrasound scan and serum markers)...
December 7, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/29215710/impact-of-nationwide-health-insurance-coverage-for-non-invasive-prenatal-testing
#14
Valentina Vinante, Bettina Keller, Evelyn A Huhn, Dorothy Huang, Olav Lapaire, Gwendolin Manegold-Brauer
OBJECTIVE: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. METHODS: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared...
December 7, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#15
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29209884/congenital-obstruction-of-foramen-of-monro-report-of-10-patients-and-literature-review
#16
Shima Shahjouei, Zohreh Habibi, Soheil Naderi, Ramin Mahmoodi, Farideh Nejat
INTRODUCTION: A wide spectrum of etiologies can obstruct foramen of Monro (FOM) and result in hydrocephalus. Congenital occlusion of FOM is a rare entity which may present either in childhood or in adulthood. METHODS: Between 2007 and 2016, we screened all pediatric patients with hydrocephalus of either one or both lateral ventricles. Congenital occlusion of FOM was confirmed in the absence of masses occupying the FOM, prenatal or postnatal central nervous system (CNS) infections, intraventricular hemorrhage, previous cerebral intervention, or associated CNS anomalies affecting the flow of cerebrospinal fluid (CSF)...
December 5, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29207734/prenatal-screening-for-rare-co-inheritance-of-hbe-and-%C3%AE-thalassaemia-traits-in-western-india
#17
Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29200252/fetal-adrenal-gland-enlargement-prenatal-and-postnatal-management
#18
(no author information available yet)
BACKGROUND: The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. To set the ratio of prenatally diagnosed suprarenal gland enlargment, postnatal managment and treatment and interventions. The newborns with congenital adrenal hyperplasia were excluded...
November 4, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29199274/recent-developments-in-genetics-and-medically-assisted-reproduction-from-research-to-clinical-applications
#19
REVIEW
J C Harper, K Aittomäki, P Borry, M C Cornel, G de Wert, W Dondorp, J Geraedts, L Gianaroli, K Ketterson, I Liebaers, K Lundin, H Mertes, M Morris, G Pennings, K Sermon, C Spits, S Soini, A P A van Montfoort, A Veiga, J R Vermeesch, S Viville, M Macek
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing...
December 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29198999/society-for-fetal-urology-classification-versus-urinary-tract-dilation-grading-systems-for-prognostication-in-prenatal-hydronephrosis-a-time-to-resolution-analysis
#20
Luis H Braga, Melissa McGrath, Forough Farrokhyar, Kizanee Jegatheeswaran, Armando J Lorenzo
PURPOSE: The Urinary Tract Dilation (UTD) grading system for prenatal hydronephrosis (HN) was introduced to address potential shortcomings of the SFU classification. HN resolution is an important patient outcome and frequently discussed during family counselling. Herein we compare these two grading systems and their ability to predict time to HN resolution. MATERIALS AND METHODS: 855 prospectively screened patients between 2009-2015 with prenatal HN due to uretero-pelvic junction-like, primary non-refluxing megaureter or vesico-ureteral reflux; with 454 being excluded due to surgeries, late referrals, absence of postnatal dilation and presence of other anomalies, resulting in 401 eligible patients to be included for analyses...
November 30, 2017: Journal of Urology
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