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prenatal testing

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https://www.readbyqxmd.com/read/29049852/parental-experiences-of-prenatal-whole-exome-sequencing-wes-in-cases-of-ultrasound-diagnosed-fetal-structural-anomaly
#1
Elizabeth Quinlan-Jones, Sarah C Hillman, Mark D Kilby, Sheila M Greenfield
OBJECTIVE: To explore parental experiences of WES for prenatal diagnosis, and ascertain what influenced their decision-making to undergo testing. METHOD: Twelve women comprised a purposeful sample in a series of semi-structured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analysed to elicit key themes. RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple sub-themes...
October 19, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29048404/association-of-unit-wide-oxygen-saturation-target-on-incidence-of-pulmonary-hypertension-in-very-low-birthweight-premature-infants
#2
U Kanaan, B Srivatsa, J Huckaby, M Kelleman
OBJECTIVE: Assess the effect of increasing pulse oximetry targets on incidence of pulmonary hypertension in very low birthweight premature infants. STUDY DESIGN: Retrospective cohort study comparing pulmonary hypertension incidence among three cohorts of premature infants exposed to varying oxygen saturation targets (Cohort 1: n=459, 1 May 2009 to 30 April 2011, 85-94%; Cohort 2: n=474, 1 May 2011 to 31 May 2013, 88-94%; Cohort 3: n=387, 1 June 2013 to 31 May 2015, 90-95%)...
October 19, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29046733/mosaic-genome-wide-maternal-isodiploidy-an-extreme-form-of-imprinting-disorder-presenting-as-prenatal-diagnostic-challenge
#3
Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F Barth, Reiner Siebert
BACKGROUND: Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole genome is usually not compatible with life, with the exception of very rare cases of patients with mosaic genome-wide uniparental disomy reported in the literature. RESULTS: We here report on a fetus with intrauterine growth retardation and malformations observed on prenatal ultrasound leading to invasive prenatal testing...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29046229/fetal-overnutrition-and-adolescent-hepatic-fat-fraction-the-exploring-perinatal-outcomes-in-children-study
#4
Anna Bellatorre, Ann Scherzinger, Elizabeth Stamm, Mercedes Martinez, Brandy Ringham, Dana Dabelea
OBJECTIVE: To determine if fetal overnutrition resulting from maternal obesity or gestational diabetes mellitus (GDM) is associated with increased liver fat during adolescence, adjusting for past and current metabolic risk factors. STUDY DESIGN: Data come from a historical prospective cohort study (Exploring Perinatal Outcomes in Children) of 254 mother-child pairs in Colorado who participated in 2 research visits at T1 (mean age 10.4, SD = 1.5 years) and at T2 (mean age 16...
October 15, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29045850/comparison-of-conventional-2d-ultrasound-to-mr-imaging-for-prenatal-estimation-of-birth-weight-in-twin-pregnancy
#5
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
#6
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/29043695/-vascular-anomalies-in-the-neonatal-period
#7
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/29040895/economic-analysis-of-prenatal-screening-strategies-for-down-syndrome-in-singleton-pregnancies-in-turkey
#8
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/29037564/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-21-with-rare-karyotype-detected-by-noninvasive-prenatal-testing
#9
Hong Wu, Zong-Yu Miao, Xiao-Fei Hou, Xiao-Yan Liu, Hui-Yuan Shao
No abstract text is available yet for this article.
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037560/application-of-non-invasive-prenatal-testing-in-late-gestation-in-a-pregnancy-associated-with-intrauterine-growth-restriction-and-trisomy-22-confined-placental-mosaicism
#10
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037559/noninvasive-prenatal-diagnosis-for-x-linked-disease-by-maternal-plasma-sequencing-in-a-family-of-hemophilia-b
#11
Ping Hu, Fengchang Qiao, Yuan Yuan, Ruihong Sun, Yan Wang, Lulu Meng, Ying Lin, Hang Li, Yaoshen Wang, Rui Han, Dong Liang, Dingyuan Ma, Tao Jiang, Hui Jiang, Zhengfeng Xu
OBJECTIVE: To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes. CASE REPORT: A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture system (containing F9 gene coding region, highly heterozygous SNPs and a 13-kb chromosome Y specific region), and revealed a causative F9 gene mutation (c.190T>C, p...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29036772/non-invasive-prenatal-testing
#12
James Harraway
BACKGROUND: Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients should understand. OBJECTIVE: This review article will briefly describe the technical basis of NIPT assays and compare the performance characteristics of NIPT with existing screening tests...
October 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29036215/reduction-of-in-utero-lead-exposures-in-south-african-populations-positive-impact-of-unleaded-petrol
#13
Halina B Röllin, Bukola Olutola, Kalavati Channa, Jon Ø Odland
BACKGROUND: Prenatal exposure to lead (Pb) has been shown to have negative and irreversible health impacts on foetal and early childhood development, affecting morbidity and mortality in adulthood. This study aimed to assess in utero Pb exposure, examine birth outcomes, and identify confounding factors in the large cohort of South African population, following the legislated removal of Pb from petrol. METHODS: Lead was measured in the maternal blood, urine and cord blood using Inductive Coupled Plasma Mass spectrometry (ICP-MS)...
2017: PloS One
https://www.readbyqxmd.com/read/29035396/successful-correction-of-familial-hemophagocytic-lymphohistiocytosis-using-prenatal-genetic-testing-and-preemptive-hematopoietic-stem-cell-transplantation
#14
T F Michniacki, J M Mulcahy Levy, R R Quinones, R H Giller
No abstract text is available yet for this article.
October 16, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29034302/comparison-of-two-immunoassay-systems-for-hcg%C3%AE-and-papp-a-in-prenatal-screening-for-trisomy-21-18-and-13-in-the-first-trimester
#15
Anna Elise Engell, Elin Rebecka Carlsson, Finn Stener Jørgensen, Steen Sørensen
OBJECTIVES: The biochemical serum markers free β-human chorionic gonadotropin (hCGβ) and pregnancy associated plasma protein A (PAPP-A), used in screening for trisomy 21 (T21), trisomy 18 (T18), and trisomy 13 (T13) during the first trimester, can be measured on different laboratory instruments e.g. Kryptor (Brahms) and Cobas (Roche). We compared the performance of these two analytical instruments when used for first trimester combined testing. DESIGN AND METHODS: Serum samples from 944 singleton pregnant women attending for first trimester combined testing were routinely assayed for hCGβ and PAPP-A on Kryptor, and re-analyzed on Cobas...
December 2017: Pract Lab Med
https://www.readbyqxmd.com/read/29033803/moderate-maternal-alcohol-exposure-on-gestational-day-12-impacts-anxiety-like-behavior-in-offspring
#16
Siara K Rouzer, Jesse M Cole, Julia M Johnson, Elena I Varlinskaya, Marvin R Diaz
Among the numerous consequences of prenatal alcohol exposure (PAE) is an increase in anxiety-like behavior that can prove debilitating to daily functioning. A significant body of literature has linked gestational day 12 (G12) heavy ethanol exposure with social anxiety, evident in adolescent males and females. However, the association between non-social anxiety-like behavior and moderate alcohol exposure, a more common pattern of drinking in pregnant women, is yet unidentified. To model moderate PAE (mPAE), we exposed pregnant Sprague-Dawley rats to either room air or vaporized ethanol for 6 h on G12...
2017: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29033309/ethical-considerations-in-prenatal-testing-genomic-testing-and-medical-uncertainty
#17
REVIEW
Anastasia Richardson, Kelly E Ormond
Prenatal diagnostic testing has recently progressed from karyotype to routinely available chromosomal microarray, and the potential for fetal whole exome sequencing, both through invasive diagnostic testing and, in some cases, non-invasive prenatal testing. These tests bring beneficence through providing a higher diagnostic yield, often with lower risks of miscarriage than previously available testing, but also raise the question of harms related to an increase in uncertain and unknown results. Some parents-to-be report a desire to learn as much information as possible prenatally, and there may be beneficence in providing them with this information...
October 12, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29033108/clinical-course-in-infants-diagnosed-with-transient-tachypnea-of-newborn-a-clinical-trial-assessing-the-role-of-conservative-versus-conventional-management
#18
M Dehdashtian, M Aletayeb, A Malakian, M R Aramesh, H Malvandi
BACKGROUND: Transient tachypnea of the newborn (TTN) is a respiratory disorder secondary to inadequate or delayed clearance of lung fluids. Early symptoms of the disease are indistinguishable from neonatal respiratory distress syndrome, pneumonia, and persistent pulmonary hypertension. Therefore, these newborns, in addition to receiving conservative management, receive antibiotics until blood cultures provide definite results. In this study, we assessed the clinical course of neonates diagnosed with TTN who received conventional versus conservative management...
October 9, 2017: Journal of the Chinese Medical Association: JCMA
https://www.readbyqxmd.com/read/29032226/maternal-depressive-symptoms-linked-to-reduced-fecal-immunoglobulin-a-concentrations-in-infants
#19
Liane J Kang, Petya T Koleva, Catherine J Field, Gerald F Giesbrecht, Eytan Wine, Allan B Becker, Piushkumar J Mandhane, Stuart E Turvey, Padmaja Subbarao, Malcolm R Sears, James A Scott, Anita L Kozyrskyj
Secretory Immunoglobulin A (sIgA) plays a critical role to infant gut mucosal immunity. Delayed IgA production is associated with greater risk of allergic disease. Murine models of stressful events during pregnancy and infancy show alterations in gut immunity and microbial composition in offspring, but little is known about the stress-microbiome-immunity pathways in humans. We investigated differences in infant fecal sIgA concentrations according to the presence of maternal depressive symptoms during and after pregnancy...
October 11, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29032069/woman-s-pre-conception-evaluation-genetic-and-fetal-risk-considerations-for-counselling-and-informed-choice
#20
REVIEW
R Douglas Wilson
OBJECTIVE: To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. OPTIONS: This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. OUTCOMES: This information may allow improved risk assessment for pre-conception counselling for individual patients and their families...
October 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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