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Newborn Screening

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https://www.readbyqxmd.com/read/28444650/-newborn-screening-on-cystic-fibrosis-in-germany-comparison-of-the-new-screening-protocol-with-an-alternative-protocol
#1
Olaf Sommerburg, Mirjam Stahl, Jutta Hammermann, Jürgen G Okun, Andreas Kulozik, Georg Hoffmann, Marcus Mall
Background For the new cystic fibrosis (CF) newborn screening program in Germany the Federal Joint Committee (G-BA) implemented a new screening protocol using immunoreactive trypsinogen (IRT) as first and pancreatitis associated protein (PAP) as second tier. Gene analysis with a panel of 31 CFTR-mutations is used as third tier to increase the positive predictive value (PPV) which is known to be low in pure biochemical IRT/PAP protocols. Methods For post hoc analysis the data pool (n=372 906) of a study evaluating a pure biochemical IRT/PAP protocol was used for assessment of the 3-step G-BA protocol in comparison with an alternative screening protocol recommended by the authors...
March 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28444286/screening-for-preeclampsia-us-preventive-services-task-force-recommendation-statement
#2
Kirsten Bibbins-Domingo, David C Grossman, Susan J Curry, Michael J Barry, Karina W Davidson, Chyke A Doubeni, John W Epling, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, William R Phillips, Maureen G Phipps, Michael Silverstein, Melissa A Simon, Chien-Wen Tseng
Importance: Preeclampsia affects approximately 4% of pregnancies in the United States. It is the second leading cause of maternal mortality worldwide and may lead to serious maternal complications, including stroke, eclampsia, and organ failure. Adverse perinatal outcomes for the fetus and newborn include intrauterine growth restriction, low birth weight, and stillbirth. Many of the complications associated with preeclampsia lead to early induction of labor or cesarean delivery and subsequent preterm birth...
April 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#3
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441153/discharge-criteria-for-the-late-preterm-infant-a-review-of-the-literature
#4
Jenny M Quinn, Marteen Sparks, Sheila M Gephart
BACKGROUND: Standardized late preterm infant (LPI) discharge criteria ensure best practice and help guide the neonatal provider to determine the appropriate level of care following birth. However, the location can vary from the well newborn setting to the neonatal intensive care unit (NICU). PURPOSE: The purpose of this review is to examine differences in LPI discharge criteria between the well newborn setting and the NICU by answering the clinical questions, "What are the recommended discharge criteria for the LPI and do they differ if admitted to the well newborn setting versus the NICU?" SEARCH STRATEGY: Databases searched include CINAHL, TRIP, PubMed, and the Cochrane Library...
April 24, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/28439195/the-role-of-serial-measurements-of-serum-insulin-like-growth-factor-1-levels-in-the-development-of-retinopathy-of-prematurity
#5
Bayram Ali Dorum, Cansu Canbolat Yılmaz, Nilgün Köksal, Hilal Özkan, Meral Yıldız, Ahmet Tuncer Özmen
AIM: To determine the role of serum insulin-like growth factor-1 levels in the development of retinopathy of prematurity, which is a major cause of childhood blindness worldwide. MATERIAL AND METHODS: We prospectively studied newborn infants born at a postmenstrual age of <32 weeks and birth weights <1 500 gr, between January 1(st), 2015, and December 31(st), 2015. A total of 40 infants were enrolled in the study. The retinal examination time was determined in accordance with the American Academy of Pediatrics recommendations for retinopathy of prematurity screening and follow-up...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28438574/extreme-hypertriglyceridemia-pseudohyponatremia-and-pseudoacidosis-in-a-neonate-with-lipoprotein-lipase-deficiency-due-to-segmental-uniparental-disomy
#6
Ambika P Ashraf, Anna C E Hurst, Abhimanyu Garg
Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of <5 mmol/L, sodium of 127 mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7...
April 3, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28438538/linking-newborn-severe-combined-immunodeficiency-screening-with-targeted-exome-sequencing-a-case-report
#7
Dipika R Patel, Hui Yu, Lee-Jun C Wong, James R Lupski, Filiz O Seeborg, Nicholas L Rider, Caridad A Martinez, Jordan S Orange, Celine Hanson
No abstract text is available yet for this article.
April 21, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28438223/extrastriatal-changes-in-patients-with-late-onset-glutaric-aciduria-type-i-highlight-the-risk-of-long-term-neurotoxicity
#8
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
BACKGROUND: Without neonatal initiation of treatment, 80-90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment...
April 24, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28437538/effects-of-diagnosis-by-newborn-screening-for-cystic-fibrosis-on-weight-and-length-in-the-first-year-of-life
#9
Daniel H Leung, Sonya L Heltshe, Drucy Borowitz, Daniel Gelfond, Margaret Kloster, James E Heubi, Michael Stalvey, Bonnie W Ramsey
Importance: Since the implementation of universal newborn screening (NBS) for cystic fibrosis (CF), the timing and magnitude of growth deficiency or its association with correlates of disease among infants with CF who underwent NBS has not been well described. Objective: To examine incremental weight gain, linear growth, and clinical features in the first year of life among infants with CF who underwent NBS. Design, Setting, and Participants: The Baby Observational and Nutrition Study (BONUS), a multicenter, longitudinal, observational cohort study, was conducted during regular CF clinic visits in the first 12 months of life at 28 US Cystic Fibrosis Foundation-accredited Care Centers from January 7, 2012, through May 31, 2015...
April 24, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28437309/pain-management-during-newborn-screening-using-youtube-to-disseminate-effective-pain-management-strategies
#10
Denise Harrison, Jessica Reszel, Bill Dagg, Cheryl Aubertin, Mariana Bueno, Sandra Dunn, Ann Fuller, JoAnn Harrold, Catherine Larocque, Stuart Nicholls, Margaret Sampson
To assess the reach, acceptability, and effect of the BSweet2Babies video showing breast-feeding, skin-to-skin care, and sucrose during blood sampling on intention to recommend the video or advocate for use of the interventions. In July 2014, the video and an electronic survey were produced and posted. After 1 year, the online viewer survey responses and YouTube analytics were analyzed. One year after posting, the BSweet2Babies video had 10 879 views from 125 countries and 187 (1.7%) viewers completed the survey...
April 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/28437307/blood-sampling-in-newborns-a-systematic-review-of-youtube-videos
#11
Mariana Bueno, Érika Tihemi Nishi, Taine Costa, Laís Machado Freire, Denise Harrison
Objective of this study was to conduct a systematic review of YouTube videos showing neonatal blood sampling, and to evaluate pain management and comforting interventions used. Selected videos were consumer- or professional-produced videos showing human newborns undergoing heel lancing or venipuncture for blood sampling, videos showing the entire blood sampling procedure (from the first attempt or puncture to the time of application of a cotton ball or bandage), publication date prior to October 2014, Portuguese titles, available audio...
April 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/28434921/identification-of-a-novel-and-functional-mutation-in-the-tbx5-gene-in-a-patient-by-screening-from-354-patients-with-isolated-ventricular-septal-defect
#12
Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He
Ventricular septal defect (VSD) is the most frequently occurring congenital heart disease (CHD) in newborns. A number of genetic studies have linked TBX5 mutations to cardiac abnormalities. We aimed to identify potential pathogenic mutations in TBX5 and to provide insights into the etiology of sporadic and isolated VSD. Case-control mutational and functional analyses were performed in 354 sporadic patients with isolated VSD and 341 controls. All the coding exons and intron-exon boundaries of TBX5 were first sequenced in a group of VSD patients and controls...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28432791/immediate-versus-delayed-postpartum-insertion-of-contraceptive-implant-for-contraception
#13
REVIEW
Jen Sothornwit, Yuthapong Werawatakul, Srinaree Kaewrudee, Pisake Lumbiganon, Malinee Laopaiboon
BACKGROUND: The spacing of pregnancies has a positive impact on maternal and newborn health. The progestin contraceptive implant, which is a long-acting, reversible method of contraception, has a well-established low failure rate that is compatible with tubal sterilization. The standard provision of contraceptive methods on the first postpartum visit may put some women at risk of unintended pregnancy, either due to loss to follow-up or having sexual intercourse prior to receiving contraception...
April 22, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28431226/the-impact-of-automatic-devices-for-capillary-blood-collection-on-efficiency-and-pain-response-in-newborns-a-randomized-controlled-trial
#14
G Sorrentino, M Fumagalli, S Milani, I Cortinovis, A Zorz, G Cavallaro, F Mosca, L Plevani
BACKGROUND: The heel stick is the method of choice in most neonatal units for capillary blood sampling, and it represents the most common event among all painful procedures performed on newborns. The type and design of heel stick device and the clinical procedure to collect a blood sample may have an impact on newborn pain response as well. OBJECTIVE: To compare the pain response and efficiency of different automated devices for capillary blood collection in newborns...
April 11, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/28428354/multiplex-tandem-mass-spectrometry-enzymatic-activity-assay-for-newborn-screening-of-the-mucopolysaccharidoses-and-type-2-neuronal-ceroid-lipofuscinosis
#15
Yang Liu, Fan Yi, Arun Babu Kumar, Naveen Kumar Chennamaneni, Xinying Hong, C Ronald Scott, Michael H Gelb, Frantisek Turecek
BACKGROUND: We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL). METHODS: New substrates were prepared and char-acterized for tripeptidyl peptidase 1 (TPP1), α-N-acetylglucosaminidase (NAGLU), and lysosomal β-glucuronidase (GUSB)...
April 20, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28425694/state-newborn-health-screening-policies
#16
Tahra Johnson, Margaret Wile
No abstract text is available yet for this article.
April 2017: NCSL Legisbrief
https://www.readbyqxmd.com/read/28422942/development-of-tandem-mass-spectrometry-based-creatinine-measurement-using-dried-blood-spot-for-newborn-mass-screening
#17
Masaru Nakano, Osamu Uemura, Masataka Honda, Tetsuya Ito, Yoko Nakajima, Shinji Saitoh
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent etiology of pediatric chronic kidney disease (CKD). However, no robust mass screening methods have been developed to detect patients with CAKUT, making early intervention to prevent progressive renal failure challenging. METHODS: We applied tandem mass spectrometry (MS/MS) to measure the creatinine (Cr) value from dried blood spot (DBS) analysis, which has been used for newborn mass screening...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28420769/newborn-hearing-screening-making-a-difference
#18
Marcia Fort
Newborn hearing screening has become the standard of care in the United States, with over 98% of infants born screened for hearing loss. Appropriate and timely follow-up is critical when an infant does not pass the screening. While there remains room for improvement, newborn hearing screening is making a difference.
March 2017: North Carolina Medical Journal
https://www.readbyqxmd.com/read/28419213/risks-factors-for-congenital-cmv-infection-following-primary-and-non-primary-maternal-infection-a-prospective-neonatal-screening-study-using-pcr-in-saliva
#19
Marianne Leruez-Ville, Jean-François Magny, Sophie Couderc, Christine Pichon, Marine Parodi, Laurence Bussières, Tiffany Guilleminot, Idir Ghout, Yves Ville
Background: The design of diagnostic and preventive strategies have been prevented by gaps in knowledge of the epidemiology of congenital CMV (cCMV) with the type of maternal infection as well as the lack of large-scale neonatal screening tools. Methods: 11,715 consecutive newborns were screened for cCMV by PCR in saliva. Prevalence, type of maternal infection, socio-demographic, obstetrical and serological data were analyzed. Results: Positive predictive value of CMV PCR in saliva was 59%, false positive results were associated with lower viral loads (p<0...
April 17, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28418986/performance-of-virological-testing-for-early-infant-diagnosis-a-systematic-review
#20
Divya Mallampati, Nathan Ford, Alisse Hanaford, Nandita Sugandhi, Martina Penazzato
BACKGROUND: Improved access to both maternal antiretroviral therapy (ART) and infant prophylaxis may have an impact on the performance of virological assays for diagnosis of HIV infection in infants. This systematic review was performed to assess the diagnostic accuracy of virological testing at birth as well as the performance of virological testing on dried-blood spots at 6-weeks amongst HIV- and ARV-exposed infants. METHODS: A systematic review was performed for studies published between January 1, 2009 and January 30, 2015...
April 7, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
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