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Expanded newborn screening

Roberto Coco
The possibility of sequencing hundreds of genes simultaneously and performing molecular karyotyping thanks to the introduction of novel genetic tools has expanded the use of preconception screening for blastocyst recessive mutations and aneuploidies before embryo transfer, with the ultimate purpose of increasing the proportion of normal healthy newborns. Since medically-assisted reproduction procedures are increasingly required to be eugenic, and the aforementioned genetic tests cover only half of the potential genetic diseases occurring at birth, it seems reasonable to incorporate genetic counseling in the practice of assisted reproduction to avoid prosecution for malpractice...
August 14, 2018: JBRA Assisted Reproduction
Jean A Bernatchez, Zunhua Yang, Michael Coste, Jerry Li, Sungjun Beck, Yan Liu, Alex E Clark, Zhe Zhu, Lucas A Luna, Christal D Sohl, Byron W Purse, Rongshi Li, Jair L Siqueira-Neto
Zika virus (ZIKV) has been linked to the development of microcephaly in newborns, as well as Guillain-Barré syndrome. There are currently no drugs available to treat infection, and accordingly there is an unmet medical need for discovery of new therapies. High-throughput drug screening efforts focusing on indirect readouts of cell viability are prone to a higher frequency of false positives in cases where the virus is viable in the cell but the cytopathic effect is reduced or delayed. Here, we describe a fast and label-free phenotypic high-content imaging assay used to detect cells affected by the viral-induced cytopathic effect (CPE) using automated imaging and analysis...
July 30, 2018: Antimicrobial Agents and Chemotherapy
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut- enzymatic subtype, respectively); a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, or cblD-MMA); or deficiency of the enzyme methylmalonyl-CoA epimerase. The cblA type of MMA is very rare in China. This study aimed to describe the biochemical, clinical, and genetic characteristics of two siblings in a Chinese family, suspected of having the cblA-type of MMA...
July 11, 2018: BMC Medical Genetics
Laura V Milko, Christine Rini, Megan A Lewis, Rita M Butterfield, Feng-Chang Lin, Ryan S Paquin, Bradford C Powell, Myra I Roche, Katherine J Souris, Donald B Bailey, Jonathan S Berg, Cynthia M Powell
BACKGROUND: Using next-generation sequencing (NGS) in newborn screening (NBS) could expand the number of genetic conditions detected pre-symptomatically, simultaneously challenging current precedents, raising ethical concerns, and extending the role of parental decision-making in NBS. The NC NEXUS (Newborn Exome Sequencing for Universal Screening) study seeks to assess the technical possibilities and limitations of NGS-NBS, devise and evaluate a framework to convey various types of genetic information, and develop best practices for incorporating NGS-NBS into clinical care...
June 28, 2018: Trials
Naoaki Shibata, Yuki Hasegawa, Kenji Yamada, Hironori Kobayashi, Jamiyan Purevsuren, Yanling Yang, Vu Chi Dung, Nguyen Ngoc Khanh, Ishwar C Verma, Sunita Bijarnia-Mahay, Dong Hwan Lee, Dau-Ming Niu, Georg F Hoffmann, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Fukuda, Takeshi Taketani, Seiji Yamaguchi
Background: Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has not yet been introduced in many Asian countries. This study aimed to determine the incidence rates of OAs, FAODs, and AAs in Asian countries and Germany using selective screening and ENBS records. Materials and methods: Selective screening for IMDs using gas chromatography-mass spectrometry and MS/MS was performed among patients suspected to be afflicted in Asian countries (including Japan, Vietnam, China, and India) between 2000 and 2015, and the results from different countries were compared...
September 2018: Molecular Genetics and Metabolism Reports
C M Mak, E Cy Law, H Hc Lee, W K Siu, K M Chow, S Kc Au Yeung, H Ys Ngan, N Kc Tse, N S Kwong, G Cf Chan, K W Lee, W P Chan, S F Wong, M Hy Tang, A Sy Kan, A Pw Hui, P L So, C C Shek, R Sy Lee, K Y Wong, E Kc Yau, K H Poon, S Siu, G Wk Poon, A Mk Kwok, J Wy Ng, V Cs Yim, G Gy Ma, C H Chu, T Y Tong, Y K Chong, S Pl Chen, C K Ching, A Ok Chan, S Tam, R Lk Lau, W F Ng, K C Lee, A Yw Chan, C W Lam
INTRODUCTION: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM). In response to a 2008 coroners' report of a 14-year-old boy who died of an undiagnosed IEM, the OPathPaed service model was proposed. In the present study, we investigated the feasibility of the OPathPaed model for delivering expanded newborn screening in Hong Kong. In addition, health care professionals were surveyed on their knowledge and opinions of newborn screening for IEM...
June 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
Farrah Rajabi
Newborn screening in the United States is an important public health measure to provide early detection for specified disorders when early treatment is both possible and beneficial. As technology improves, newborn screening can be offered for many more conditions. In the past 10 years, screening has expanded to include severe combined immunodeficiency, congenital heart disease, lysosomal storage disease, and X-linked adrenoleukodystrophy. This article reviews the current state of newborn screening with updates on recent developments...
May 1, 2018: Pediatric Annals
Vicki Modell, Jordan S Orange, Jessica Quinn, Fred Modell
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. In fact, recent studies have shown that PI may be more common than previously estimated and that as many as 1% of the population may be affected with a PI when all types and varieties are considered. In order to raise awareness of PI with the overall goal of reducing associated morbidity and mortality, the Jeffrey Modell Foundation (JMF) established a network of specialized centers that could better identify, diagnose, treat, and follow patients with PI disorders...
May 9, 2018: Immunologic Research
Seema Kapoor, B K Thelma
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders that cause significant neonatal and infant mortality. Expanded newborn screening which detects these disorders at birth is the standard preventive strategy in most countries. Prospective studies to evaluate the impact of these in the Indian population are lacking. The imminent need to address this lacuna warrants a review of available pan India data, as well as efforts for a carefully conducted prospective assessment of the burden of IEM...
May 7, 2018: Indian Journal of Pediatrics
Kejian Guo, Xuan Zhou, Xigui Chen, Yili Wu, Chuanxin Liu, Qingsheng Kong
The incidence of inborn errors of metabolisms (IEMs) varies dramatically in different countries and regions. Expanded newborn screening for IEMs by tandem mass spectrometry (MS/MS) is an efficient approach for early diagnosis and presymptomatic treatment to prevent severe permanent sequelae and death. To determine the characteristics of IEMs and IEMs-associated mutations in newborns in Jining area, China, 48,297 healthy neonates were recruited for expanded newborn screening by MS/MS. The incidence of IEMs was 1/1178 in Jining, while methylmalonic acidemia, phenylketonuria, and primary carnitine deficiency ranked the top 3 of all detected IEMs...
2018: Frontiers in Genetics
Hafiz Muhammad Aslam, Said Yousuf, Adetola Kassim, Shumaila Muhammad Iqbal, Shahrukh K Hashmi
Current projections estimate that the number of newborns with sickle cell disease (SCD) globally will exceed 400,000 by 2050. Over the last three decades, increased newborn screening, supportive care, and use of hydroxyurea therapy, have decreased early childhood mortality among individuals affected with SCD. Despite hematopoietic cell transplantation (HCT) being curative in SCD, its impact on disease free survival remains unknown, especially in adults, partly due to previous limitations in donor options and perceived mortality in adults using myeloablative conditioning...
May 4, 2018: Bone Marrow Transplantation
Xinying Hong, Arun Babu Kumar, C Ronald Scott, Michael H Gelb
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as to improve the current protocol for newborn screening of galactosemia.A 3 mm punch of a dried blood spot (DBS) was extracted with organic solvent for analysis of the C26:0-lysophosphatidylcholine biomarker for X-ALD...
June 2018: Molecular Genetics and Metabolism
Fady Hannah-Shmouni, Vivian Cruz, Andreas Schulze, Saadet Mercimek-Andrews
Likely pathogenic variants in CD320 cause transcobalamin receptor defect, a recently discovered inborn errors of cobalamin metabolism. Only 12 cases have been reported to date. There are no long-term clinical and biochemical outcome reports since its first description. In this report, we present two new cases and report their long-term treatment outcome. Two asymptomatic cases were identified through a positive newborn screening for propionic/methylmalonic aciduria. Biochemical abnormalities were normalized on a short course of oral cyanocobalamin (1 mg/day)...
June 2018: American Journal of Medical Genetics. Part A
Cha Gon Lee, Jahyeon Jang, Hyun-Seok Jin
The ACTG1 gene encodes the cytoskeletal protein γ-actin, which functions in non‑muscle cells and is abundant in the auditory hair cells of the cochlea. Autosomal dominant missense mutations in ACTG1 are associated with DFNA20/26, a disorder that is typically characterized by post‑lingual progressive hearing loss. To date, 17 missense mutations in ACTG1 have been reported in 20 families with DFNA20/26. The present study described a small family with autosomal dominant nonsyndromic hearing loss. A novel heterozygous missense mutation, c...
June 2018: Molecular Medicine Reports
(no author information available yet)
OBJECTIVES: To ascertain the proportion of neonates and infants presenting with suspicion of an inborn error of metabolism in the centers identified by ICMR for newborn screening. METHODS: A set of red flag signs suggestive IEM were listed by the Taskforce members. The age group was limited to one year as it was understood that most of the small molecules with a severe phenotype would present before the age of one year. Further investigations were tandem mass spectrometry, gas chromatography mass spectrometry and high performance liquid chromatography...
March 15, 2018: Indian Journal of Pediatrics
Areeg El-Gharbawy, Jerry Vockley
Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment...
April 2018: Pediatric Clinics of North America
Raja Majid Afzal, Allan Meldgaard Lund, Flemming Skovby
Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders present in all ethnic groups. We investigated the frequency of consanguinity among parents of newborns with IEM diagnosed by neonatal screening. Data were obtained from 15 years of expanded newborn screening for selected IEM with autosomal recessive mode of inheritance, a national screening program of newborns covering the period from 2002 until April 2017. Among the 838,675 newborns from Denmark, the Faroe Islands and Greenland, a total of 196 newborns had an IEM of whom 155 from Denmark were included in this study...
June 2018: Molecular Genetics and Metabolism Reports
Kathleen O'Connor, Tara Jukes, Sharan Goobie, Jennifer DiRaimo, Greg Moran, Beth Katherine Potter, Pranesh Chakraborty, Charles Anthony Rupar, Srinitya Gannavarapu, Chitra Prasad
Expanded newborn screening (NBS) for genetic disorders has improved diagnosis of numerous treatable diseases, positively impacting children's health outcomes. However, research about the psychological impact of expanded NBS on families, especially mothers, has been mixed. Our study examined associations between maternal experiences of expanded NBS and subsequent psychosocial functioning and parenting stress in mothers whose infants received either true negative (TN), true positive (TP) or false positive (FP) results after a 4- to 6-month period...
April 2018: European Journal of Human Genetics: EJHG
Wilmar Saldarriaga, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Fandiño-Losada, Carolina Isaza, Jose Rafael Tovar-Cuevas, Marisol Silva, Nimrah S Choudhary, Hiu-Tung Tang, Sergio Aguilar-Gaxiola, Randi J Hagerman, Flora Tassone
BACKGROUND: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism. The reported prevalence of the full mutation (FM) gene FMR1 in the general population is 0.2-0.4 per 1000 males and 0.125-0.4 per 1000 females. Population screening for FMR1 expanded alleles has been performed in newborns and in an adult population. However, it has never been carried out in an entire town. Ricaurte is a Colombian district with 1186 habitants, with a high prevalence of FXS, which was first described by cytogenetic techniques in 1999...
April 2018: Journal of Human Genetics
Evelina Maines, Annunziata Di Palma, Alberto Burlina
Several disorders should be considered in the case of newborns and infants experiencing acute or recurrent symptoms after food ingestion. Immune-mediated adverse food reactions are the most frequent and always to be considered. Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review reports clinical features and diagnostic aspects of the most common IMDs that may present with acute manifestations triggered by food intake. Major focus will be amino acid and protein metabolism defects and carbohydrate disorders...
January 25, 2018: Italian Journal of Pediatrics
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