keyword
MENU ▼
Read by QxMD icon Read
search

Preconception genetic screening

keyword
https://www.readbyqxmd.com/read/29754767/preconception-carrier-screening-by-genome-sequencing-results-from-the-clinical-laboratory
#1
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29751732/population-screening-for-hemoglobinopathies
#2
H W Goonasekera, C S Paththinige, V H W Dissanayake
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases...
May 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29595869/implementing-carrier-screening-for-cystic-fibrosis-outside-the-clinic-ethical-analysis-in-the-light-of-the-personalist-view
#3
M L Di Pietro, A A Teleman, F J Gonzalez-Melado, D Zace, F R Di Raimo, V Lucidi, P Refolo
BACKGROUND: Cystic Fibrosis (CF) is an autosomal recessive genetic disease. Two models for screening CF are normally used: newborn screening and population-based CF carrier screening. In turn, there are three main models of population-based CF carrier screening: prenatal carrier screening, preconception carrier screening, and carrier screening outside clinical settings. AIM: To evaluate, in the light of the personalist view, the use of carrier screenings for CF outside the clinic, i...
March 2018: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29447661/ethical-quandaries-around-expanded-carrier-screening-in-third-party-reproduction
#4
REVIEW
Heidi Mertes, Steven R Lindheim, Guido Pennings
Although current screening methods of gamete donors are capable of reducing the incidence of genetic anomalies in donor offspring below general population levels, targeted screening for a large number of conditions (expanded carrier screening or ECS) could be considered as part of the routine selection procedure for gamete donors. There are, however, important drawbacks to its practical implementation. Excluding all carriers of severe recessive monogenic pediatric disorders would disqualify virtually all donors, and other approaches negatively affect cost (and therefore access), present dilemmas in regard to disclosure of genetic findings, and/or overburden the intended parents...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29447660/expanded-carrier-screening-what-the-reproductive-endocrinologist-needs-to-know
#5
REVIEW
Jeffrey Dungan
Expanded carrier screening refers to identification of carriers of single-gene disorders outside of traditional screening guidelines. New genetic testing technologies allow for such screening at costs that are comparable to single-gene testing. There is a high degree of variability among genetic testing laboratories as to the inclusion of different disorders, some of which have mild or unpredictable phenotypes. This review discusses the pros and cons of using expanded carrier screening in the preconceptional patient and reviews guidelines currently endorsed by professional organizations...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29423569/time-costs-for-genetic-counseling-in-preconception-carrier-screening-with-genome-sequencing
#6
Frances L Lynch, Patricia Himes, Marian J Gilmore, Elissa M Morris, Jennifer L Schneider, Tia L Kauffman, Elizabeth Shuster, Jacob A Reiss, John F Dickerson, Michael C Leo, James V Davis, Carmit K McMullen, Benjamin S Wilfond, Katrina A B Goddard
Advances in technology and the promise of personalized health care are driving greater use of genome sequencing (GS) for a variety of clinical scenarios. As health systems consider adopting GS, they need to understand the impact of GS on the organization and cost of care. While research has documented a dramatic decrease in the cost of sequencing and interpreting GS, few studies have examined how GS impacts genetic counseling workloads. This study examined the time needed to provide genetic counseling for GS in the context of preconception carrier screening...
February 8, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29321671/preconception-carrier-screening-for-multiple-disorders-evaluation-of-a-screening-offer-in-a-dutch-founder-population
#7
Inge B Mathijssen, Kim C A Holtkamp, Cecile P E Ottenheim, Janneke M C van Eeten-Nijman, Phillis Lakeman, Hanne Meijers-Heijboer, Merel C van Maarle, Lidewij Henneman
Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer for four recessive disorders in a Dutch founder population. Questionnaires were completed by 182 attendees pretesting and posttesting and by 137 non-attendees. Semistructured interviews were conducted with seven of the eight carrier couples. Attendees were mainly informed about the existence of screening by friends/colleagues (49%) and family members (44%)...
February 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#8
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29250907/patient-perspectives-on-the-use-of-categories-of-conditions-for-decision-making-about-genomic-carrier-screening-results
#9
Stephanie A Kraft, Carmit K McMullen, Kathryn M Porter, Tia L Kauffman, James V Davis, Jennifer L Schneider, Katrina A B Goddard, Benjamin S Wilfond
As expanded genome-scale carrier screening becomes increasingly prevalent, patients will face decisions about whether to receive results about a vast number of genetic conditions. Understanding patient preferences is important to meaningfully demonstrate the ethical goal of respect and support patient autonomy. We explore one possible way to elicit preferences by sorting conditions into categories, which may support patient decision making, but the extent to which categories are helpful is unknown. In the context of a randomized trial of genome sequencing for preconception carrier screening compared to usual care (single disease carrier testing), we interviewed 41 participants who had genome sequencing about their experience using a taxonomy of conditions to select categories of results to receive...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29162676/the-role-of-genetic-counseling-in-pompe-disease-after-patients-are-identified-through-newborn-screening
#10
Andrea M Atherton, Debra Day-Salvatore
An important part of the coordinated care by experienced health care teams for all Pompe disease patients, whether diagnosed through newborn screening (NBS), clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counseling helps families better understand medical recommendations and options presented by the patient's health care team so they can make informed decisions. In addition to providing important information about the inheritance and genetic risks, genetic counseling also provides information about Pompe disease and available treatments and resources and should be offered to families with an affected child and all adults diagnosed with Pompe disease...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#11
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
December 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28990982/futuristic-look-at-genetic-and-birth-defect-diagnoses-and-treatments
#12
Anthony R Gregg
One aim of prenatal care is to provide information to prospective parents. The information provided encompasses prenatal care, intrapartum and postpartum care. Learning the genetic constitution of the parents pre-conception or the ongoing pregnancy allows parents to make decisions and set expectations. Offering screening and diagnostic testing has been the main in satisfying the desire for prenatal genetic information. With rapid advances in genomics and genome sequencing, screening during an ongoing pregnancy may become obsolete...
December 2017: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28938745/a-closer-look-at-expanded-carrier-screening-from-a-pgd-perspective
#13
Carolina Vaz-de-Macedo, Joyce Harper
Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of the individuals and couples by providing preconception knowledge that could lead to the broadest range of available options, including PGD, we argue that: (i) Given the number and heterogeneity of the conditions included in panels, it cannot be guaranteed that a couple who tests positive for one of those conditions will be eligible for PGD; patients should be informed of this potential limitation before undertaking screening...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28697118/finding-middle-ground-in-constructing-a-clinically-useful-expanded-carrier-screening-panel
#14
Blair Stevens, Nevena Krstic, Malorie Jones, Lauren Murphy, Jennifer Hoskovec
Expanded carrier screening for autosomal-recessive conditions effectively identifies more carrier couples than traditional guideline-based carrier screening. However, clinically available expanded carrier screening panels include numerous conditions, some of which have questionable clinical utility as a result of very low carrier frequency, low or unknown testing sensitivity, and mild or incompletely penetrant phenotypes. Using the 2013 American College of Medical Genetics and Genomics Position Statement on Prenatal and Preconception Expanded Carrier Screening and the 2017 American College of Obstetricians and Gynecologists' Committee Opinion on Carrier Screening in the Age of Genomic Medicine as guidance, we propose specific criteria for the development of expanded carrier screening panels that will maximize clinical utility and minimize patient stress, unnecessary cost of follow-up testing, and clinician time spent facilitating and performing follow-up counseling and testing...
August 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28555434/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked
#15
Inge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, Egbert J W Redeker, Leo P Ten Kate, Lidewij Henneman, Hanne Meijers-Heijboer
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations...
October 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#16
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#17
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28492530/a-comprehensive-strategy-for-exome-based-preconception-carrier-screening
#18
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...
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28384392/missed-opportunities-unidentified-genetic-risk-factors-in-prenatal-care
#19
Trissa McClatchey, Erica Lay, Melissa Strassberg, Ignatia B Van den Veyver
OBJECTIVE: Prenatal and preconception care guidelines recommend obtaining family history to screen for reproductive genetic risk. The effectiveness of this screening and subsequent referral for genetic counseling is not well established. This study describes how often pregnant women with reproductive genetic risks were not referred for prenatal genetic counseling and the indications frequently missed. METHOD: We retrospectively reviewed genetic consultation medical records for first-trimester screen pretest counseling...
January 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28315134/reasons-for-declining-preconception-expanded-carrier-screening-using-genome-sequencing
#20
Marian J Gilmore, Jennifer Schneider, James V Davis, Tia L Kauffman, Michael C Leo, Kellene Bergen, Jacob A Reiss, Patricia Himes, Elissa Morris, Carol Young, Carmit McMullen, Benjamin S Wilfond, Katrina A B Goddard
Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so...
October 2017: Journal of Genetic Counseling
keyword
keyword
109028
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"