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Preconception genetic screening

M Ng, J G de Montigny, M Ofner, M T Do
INTRODUCTION: The number of children diagnosed with autism spectrum disorder (ASD) has been rapidly rising in the past decade. The etiology of this disorder, however, is largely unknown, although the environmental relative to the genetic contribution is substantial. We conducted a scoping review to comprehensively assess the current state of knowledge of the environmental factors present from preconception to early life associated with ASD, and to identify research gaps. METHODS: We searched electronic databases MEDLINE, PsycINFO and ERIC for articles on potential risk factors or protective factors from the physical and social environments associated with ASD and its subclassifications published between 1 January, 2003, and 12 July, 2013...
January 2017: Health Promotion and Chronic Disease Prevention in Canada
Tia L Kauffman, Benjamin S Wilfond, Gail P Jarvik, Michael C Leo, Frances L Lynch, Jacob A Reiss, C Sue Richards, Carmit McMullen, Deborah Nickerson, Michael O Dorschner, Katrina A B Goddard
Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers...
February 2017: Contemporary Clinical Trials
Mohd Fareed, Mohammad Afzal
CONTEXT: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases. OBJECTIVE: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders...
March 2017: Annals of Human Biology
Suzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk, Aimee D C Paulussen, Christine E M de Die-Smulders, Hubert J M Smeets
PURPOSE: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. METHODS: Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples. Presumably pathogenic variants based on frequency and database annotations or generic characteristics and mutation type were selected in genes shared by the couple and in the female's X-chromosome...
October 27, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sanne van der Hout, Kim Ca Holtkamp, Lidewij Henneman, Guido de Wert, Wybo J Dondorp
Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation...
January 2016: European Journal of Human Genetics: EJHG
Maria Ekstrand Ragnar, Tanja Tydén, Ulrik Kihlbom, Margareta Larsson
INTRODUCTION: Genetic technologies advance rapidly. It is possible to undergo genetic carrier screening before pregnancy to examine genetic risks to future offspring. We aimed to investigate parents' interest and motives towards preconception genetic carrier screening (PCS) as well as factors associated with interest in PCS. MATERIAL AND METHODS: Our study sample consists of 777 parent couples within the longitudinal Swedish Pregnancy Planning study. Women responded to questionnaires at three occasions: in early pregnancy, late pregnancy, and one year after childbirth...
September 20, 2016: Upsala Journal of Medical Sciences
Jennifer J Shiroff, Mathew J Gregoski
Measurement of recessive carrier screening attitudes related to conception and pregnancy is necessary to determine current acceptance, and whether behavioral intervention strategies are needed in clinical practice. To evaluate quantitative survey instruments to measure patient attitudes regarding genetic carrier testing prior to conception and pregnancy databases examining patient attitudes regarding genetic screening prior to conception and pregnancy from 2003-2013 were searched yielding 344 articles; eight studies with eight instruments met criteria for inclusion...
August 29, 2016: Translational Behavioral Medicine
Gianina Ravenscroft, Mark R Davis, Phillipa Lamont, Alistair Forrest, Nigel G Laing
Early-onset muscle disease includes three major entities that present generally at or before birth: congenital myopathies, congenital muscular dystrophies and congenital myasthenic syndromes. Almost exclusively there is weakness and hypotonia, although cases manifesting hypertonia are increasingly being recognised. These diseases display a wide phenotypic and genetic heterogeneity, with the uptake of next generation sequencing resulting in an unparalleled extension of the phenotype-genotype correlations and "diagnosis by sequencing" due to unbiased sequencing...
August 9, 2016: Seminars in Cell & Developmental Biology
J I García-De la Torre, A Rodríguez-Valdez, A Delgado-Rosas
BACKGROUND: Fetal macrosomia is birth weight of 4,000 grams or more, regardless of gestational age, in Mexico representing about 5.4%. Associated with multiple demographic, physiological, metabolic and genetic factors of each population. OBJECTIVE: Determine the risk factors associated with the development of fetal macrosomia in patients without gestational diabetes mellitus. METHODS: Retrospective, descriptive and comparative study of patients who came to delivery from January 2012 to June 2014, 88 patients, 23 patients with diagnosis of macrosomia, and 65 patients without macrosomia without gestational diabetes mellitus were included...
March 2016: Ginecología y Obstetricia de México
Ulrik Kihlbom
Population-based preconception genetic carrier screening programmes (PCS) with expanded panels are currently being developed in the Netherlands. This form of genetic screening for recessive traits differs from other forms of genetic testing and screening in that it is offered to persons not known to have an increased risk of being carriers of genetic traits for severe recessive diseases and in that they include tests for a large number of traits, potentially several hundred. This raises several ethical issues around justice, consequences, and autonomy...
July 8, 2016: Upsala Journal of Medical Sciences
A Matar, U Kihlbom, A T Höglund
Reproductive autonomy, medicalization, and discrimination against disabled and parental responsibility are the main ongoing ethical debates concerning reproductive genetic screening. To examine Swedish healthcare professionals' views on preconception expanded carrier screening (ECS), a qualitative study involving academic and clinical institutions in Sweden was conducted in September 2014 to February 2015. Eleven healthcare professionals including clinicians, geneticists, a midwife, and a genetic counselor were interviewed in depth using a semi-structured interview guide...
July 2016: Journal of Community Genetics
Moran Gal, Khen Khermesh, Michal Barak, Min Lin, Hadas Lahat, Haike Reznik Wolf, Michael Lin, Elon Pras, Erez Y Levanon
BACKGROUND: Genetic screening to identify carriers of autosomal recessive diseases has become an integral part of routine prenatal care. In spite of the rapid growth of known mutations, most current screening programs include only a small subset of these mutations, and are performed using diverse molecular techniques, which are generally labor-intensive and time consuming. We examine the implementation of the combined high-throughput technologies of specific target amplification and next generation sequencing (NGS), for expanding the carrier screening program in the Israeli Jewish population as a test case...
2016: BMC Medical Genomics
Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, Adelita V Ranchor, Irene M van Langen
With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously...
October 2016: European Journal of Human Genetics: EJHG
Jason M Franasiak, Meir Olcha, Paul A Bergh, Kathleen H Hong, Marie D Werner, Eric J Forman, Rebekah S Zimmerman, Richard T Scott
PURPOSE: Options for preconception genetic screening have grown dramatically. Expanded carrier screening (ECS) now allows for determining carrier status for hundreds of genetic mutations by using a single sample, and some recommend ECS prior to in vitro fertilization. This study seeks to evaluate how often ECS alters clinical management when patients present for infertility care. METHODS: All patients tested with ECS at a single infertility care center from 2011 to 2014 were evaluated...
March 3, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Alison D Archibald, Chriselle L Hickerton, Samantha A Wake, Alice M Jaques, Jonathan Cohen, Sylvia A Metcalfe
This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an in-depth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78)...
April 2016: Journal of Community Genetics
Michael C Leo, Carmit McMullen, Benjamin S Wilfond, Frances L Lynch, Jacob A Reiss, Marian J Gilmore, Patricia Himes, Tia L Kauffman, James V Davis, Gail P Jarvik, Jonathan S Berg, Cary Harding, Kathleen A Kennedy, Dana Kostiner Simpson, Denise I Quigley, C Sue Richards, Alan F Rope, Katrina A B Goddard
Advances in genome sequencing and gene discovery have created opportunities to efficiently assess more genetic conditions than ever before. Given the large number of conditions that can be screened, the implementation of expanded carrier screening using genome sequencing will require practical methods of simplifying decisions about the conditions for which patients want to be screened. One method to simplify decision making is to generate a taxonomy based on expert judgment. However, expert perceptions of condition attributes used to classify these conditions may differ from those used by patients...
March 2016: American Journal of Medical Genetics. Part A
Raffaella Cascella, Claudia Strafella, Stefano Gambardella, Giuliana Longo, Paola Borgiani, Federica Sangiuolo, Giuseppe Novelli, Emiliano Giardina
The hypoacusia can be classified in two clinical forms: Syndromic (SHL) and Nonsyndromic (NSHL). In particular, the NSHL describes the 70-80% of hypoacusia cases and it is mainly due to genetic factors, which are causative of the deafness at the birth. The genetic hypoacusia presents different inheritance patterns: autosomal dominant (20%), autosomal recessive (80%), X-linked (1%), and mitochondrial (1%), respectively. To date, about 35 deafness-causative genes have been identified and most of them codify for connexin transmembrane proteins...
March 2016: Electrophoresis
Neil F Goodman, Rhoda H Cobin, Walter Futterweit, Jennifer S Glueck, Richard S Legro, Enrico Carmina
Polycystic ovary syndrome (PCOS) is recognized as the most common endocrine disorder of reproductive-aged women around the world. This document, produced by the collaboration of the American Association of Clinical Endocrinologists and the Androgen Excess Society aims to highlight the most important clinical issues confronting physicians and their patients with PCOS. It is a summary of current best practices in 2014. Insulin resistance is believed to play an intrinsic role in the pathogenesis of PCOS. The mechanism by which insulin resistance or insulin give rise to oligomenorrhea and hyperandrogenemia, however, is unclear...
December 2015: Endocrine Practice
N Bernoulli, P Campanini, C C Werner, S Zisimopoulou
Preconceptional evaluation should be extended to all women in reproductive age. It includes, among others, screening for infections, evaluation of immunity against infectious agents detrimental to the fetus and, in high risk cases, detection of genetically transmitted diseases. Furthermore, any medication needs to be evaluated for potential embryotoxicity and teratogenicity. During pregnancy, diseases that may appear trivial in other circumstances can become complex due to the potentially harmful secondary effects of medication and radiodiagnostic tests on the motherand fetus...
September 23, 2015: Revue Médicale Suisse
Malgorzata Pawlowska, Krzysztof Domagalski, Anna Pniewska, Beata Smok, Waldemar Halota, Andrzej Tretyn
The number of hepatitis C virus (HCV) infection cases is relatively low in children. This low number may be connected with the lack of screening tests and the asymptomatic course of infection. Currently, mother-to-infant transmission is the most common cause of HCV infection amongst children in developed countries. It is important to introduce routine screening tests for HCV in pregnant women. The risk of vertical transmission of HCV is estimated at approximately 5% (3%-10%). Currently, we do not have HCV transmission prevention methods...
October 14, 2015: World Journal of Gastroenterology: WJG
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