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JOURNAL ARTICLE
Sofia Morberg Jämterud, Anke Snoek
Preconception expanded carrier screening (PECS) informs prospective parents about the risk of conceiving a child with a heritable genetic condition. PECS will also, for many, become an important screening test, and websites will likely play a vital role in providing information on this practice. The aim of this article is to examine rationalities in the information on PECS on Dutch websites. The method used is multimodal critical discourse analysis. This method allows an examination of norms and assumptions in the descriptions, as well as of the positions that are discursively made available...
May 22, 2023: Healthcare (Basel, Switzerland)
#22
Tianjiao Wang, Debra Kiss, Kathleen McFadden, Joshua Byrnes, Paul Scuffham, Martin B Delatycki, Martin Downes
INTRODUCTION: Many scientific societies have emphasized the importance of evaluating the clinical utility of reproductive carrier screening (RCS). This systematic review aims to assess the clinical utility of RCS and synthesize the outcomes in a meta-analysis. AREAS COVERED: A total of eleven studies were included. The number of conditions screened in the studies varied from three to 176 and led to the identification of one to 24 high-risk couples (HRCs) per 1,000 screened individuals...
May 2023: Expert Review of Molecular Diagnostics
#23
JOURNAL ARTICLE
A-M A Gerdes, L Birk Møller, N Horn
Assisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize. This requires knowledge and capability to evaluate genetic variants correctly in a clinical setting. Here we report a Menkes disease case, born after ART, where genetic screening and variant scoring failed to identify an egg donor as carrier of this fatal X-linked disorder...
March 30, 2023: Journal of Assisted Reproduction and Genetics
#24
Tucker Morris, Elizabeth R Lorbeer, Richard R Roach
The prothrombin G20210A factor II mutation carrier status has been reported to cause complications during pregnancy. This report presents the case of a patient diagnosed with heterozygous prothrombin G20210A factor II mutation at 29 years of age during preconception genetic screening. The patient had two uncomplicated pregnancies. The patient underwent laparoscopic cholecystectomy with a complicated postoperative course. The complications included deep vein thrombophlebitis (DVT), portal vein thrombosis (PVT), and pulmonary embolization (PE)...
January 2023: Curēus
#25
JOURNAL ARTICLE
Katelynn G Sagaser, Jennifer Malinowski, Lauren Westerfield, Jennifer Proffitt, Melissa A Hicks, Tomi L Toler, Karin J Blakemore, Blair K Stevens, Lisa M Oakes
Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity-based screening, which requires accurate knowledge of ancestry for optimal test selection and appropriate risk assessment, ECS panels consist of tens to hundreds of AR and XL conditions that may be individually rare in various ancestries but offer a comprehensive approach to inherited disease screening...
February 9, 2023: Journal of Genetic Counseling
#26
REVIEW
Lydia H Pecker, Eugene Oteng-Ntim, Alecia Nero, Sophie Lanzkron, Mindy S Christianson, Teonna Woolford, Lillian R Meacham, Adrienne D Mishkin
Assisted reproductive technologies (ART) are not yet systematically available to people with sickle cell disease or their parents. Fertility care for these groups requires addressing sickle cell disease-associated infertility risks, fertility preservation options, pregnancy possibilities and outcomes, and, when needed, infertility treatment. People with a chance of having a child with sickle cell disease can use in-vitro fertilisation with preimplantation genetic testing to conceive a child unaffected by sickle cell disease...
January 25, 2023: Lancet Haematology
#27
REVIEW
Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C Y Loo, Lauren A Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S Moldenhauer, Anne S Bassett, Donna M McDonald-McGinn
Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indications for prenatal diagnostic testing include a parent or child with the 22q11.2 microdeletion or suggestive prenatal screening results. Definitive diagnosis by genetic testing of chorionic villi or amniocytes using a chromosomal microarray will detect clinically relevant microdeletions...
January 6, 2023: Genes
#28
JOURNAL ARTICLE
Anna Abulí, Mar Costa-Roger, Marta Codina-Solà, Irene Valenzuela, Jordi Leno-Colorado, Eulàlia Rovira-Moreno, Anna Cueto-González, Paula Fernández-Álvarez, Elena García-Arumí, Ivon Cuscó, Eduardo F Tizzano
BACKGROUND: Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility of extensive preconception carrier screening (PCS) in consanguineous couples who may be at risk of rare genetic disorders. METHODS: We retrospectively analysed ES data from 65 probands affected with rare genetic disorders born from consanguineous couples. We explored diagnostic yield and carrier status for recessive disorders...
June 2023: Journal of Medical Genetics
#29
JOURNAL ARTICLE
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Jane L Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H Bennetts, Corrina C Cliffe, Evanthia O Madelli, Gladys Ho, Jan Liebelt, Janet C Long, Jeffrey Braithwaite, Jillian Kennedy, John Massie, Jon D Emery, Julie McGaughran, Justine E Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R Davis, Martin J Downes, Mathew Wallis, Monica M Ferrie, Nicholas Pachter, Paul A Scuffham, Rachael Casella, Richard J N Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P Walker, Tiffany F Boughtwood, Tristan Hardy, Ainsley J Newson, Edwin P Kirk, Nigel G Laing, Martin B Delatycki, The Mackenzie's Mission Study Team
Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project...
October 28, 2022: Journal of Personalized Medicine
#30
JOURNAL ARTICLE
Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel
OBJECTIVES: Cystic fibrosis (CF) is one of the most common severe autosomal recessive disorders. Prenatal or preconception CF screening is offered in some countries. A maternal blood sample in early pregnancy can provide circulating trophoblasts and offers a DNA source for genetic analysis of both the mother and the fetus. This study aimed to develop a cell-based noninvasive prenatal test (NIPT) to screen for the 50 most common CF variants. METHODS: Blood samples were collected from 30 pregnancies undergoing invasive diagnostics and circulating trophoblasts were harvested in 27...
November 29, 2022: Prenatal Diagnosis
#31
JOURNAL ARTICLE
Stephanie Best, Janet C Long, Zoe Fehlberg, Tahlia Theodorou, Sarah Hatem, Alison Archibald, Jeffrey Braithwaite
Recent advances in genomic sequencing have improved the accessibility of reproductive genetic carrier screening (RGCS). As awareness and interest grows, non-genetic health care professionals are increasingly offering RGCS to consumers. We conducted a qualitative interview study informed by behaviour change theory to identify influences on health care professionals considered as 'early adopters' offering RGCS through Mackenzie's Mission, an Australian national research study investigating the implementation of free RGCS to couple's preconception or in early pregnancy...
November 24, 2022: European Journal of Human Genetics: EJHG
#32
REVIEW
Jacqueline Yano Maher, Veronica Gomez-Lobo, Deborah P Merke
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of steroidogenesis of the adrenal cortex, most commonly due to 21-hydroxylase deficiency caused by mutations in the CYP21A2 gene. Although women with CAH have decreased fecundity, they are able to conceive; thus, if pregnancy is not desired, contraception options should be offered. If fertility is desired, women with classic CAH should first optimize glucocorticoid treatment, followed by ovulation induction medications and gonadotropins if needed...
February 2023: Reviews in Endocrine & Metabolic Disorders
#33
REVIEW
Silvina Sisterna, Antoni Borrell
Couple screening aims to identify couples with an increased risk of having a child affected with an autosomal recessive or X-linked disorder, in order to facilitate informed reproductive decision making. Both expectant parents should be screened as a single entity, instead of individual testing. Carrier testing was typically performed for a few relatively common recessive disorders associated with significant morbidity, reduced life expectancy and often because of a considerably higher carrier frequency in a specific population for certain diseases...
November 17, 2022: Journal of Medical Screening
#34
JOURNAL ARTICLE
Leland E Hull, David Cheng, Mie H Hallman, M L Rieu-Werden, Jennifer S Haas
Importance: Reproductive genetic carrier screening can be performed prior to or during pregnancy to assess a reproductive couple's risk of having a child with a recessively inherited disorder. Although professional societies endorse preconception screening as preferable to prenatal screening to allow for greater reproductive choice, implementation of preconception screening is challenging. Objective: To determine how carrier screening timing varies by multilevel factors associated with health care delivery including patient, clinician, and location across a large integrated health care system...
November 1, 2022: JAMA Network Open
#35
REVIEW
Maeve K Hopkins, Lorraine Dugoff, Jeffrey A Kuller
IMPORTANCE: Cystic fibrosis (CF) is one of the most common autosomal recessive disorders. Carrier screening for CF should be offered to all women considering becoming pregnant or who are pregnant. Understanding the available screening tests, their limitations, and the benefits of screening is of paramount importance to the obstetrician-gynecologist. OBJECTIVES: The objective is to review the current guidelines for CF carrier screening including the options for carrier screening, the potential complexities associated with carrier screening for CF, and indications for referral to certified genetic counselors or maternal-fetal medicine specialists...
October 2022: Obstetrical & Gynecological Survey
#36
JOURNAL ARTICLE
Ruth Leibowitz, Sharon Lewis, Jon Emery, John Massie, Melanie Smith, Martin Delatycki, Alison Archibald
BACKGROUND: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, that is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity...
October 4, 2022: Australian Journal of Primary Health
#37
JOURNAL ARTICLE
Mariam Ayyash, Madhurima Keerthy, Jacquelyn Roberson, Majid Shaman
Objective: To examine the rate of recurrence for elevated isolated maternal serum alpha-fetoprotein (MSAFP) and its associated adverse outcomes during a subsequent pregnancy. Materials and Methods: A retrospective cohort study of pregnant multiparous women who had elevated MSAFP levels during an initial and a subsequent pregnancy between 1994 and 2020. Results: Twenty-seven out of 344 (7.8%) women with elevated MSAFP had recurrent elevated MSAFP in a subsequent pregnancy. Four women were excluded due to missing data...
September 2022: Genetic Testing and Molecular Biomarkers
#38
REVIEW
Cornelis L Harteveld, Ahlem Achour, Sandra J G Arkesteijn, Jeanet Ter Huurne, Maaike Verschuren, Sharda Bhagwandien-Bisoen, Rianne Schaap, Linda Vijfhuizen, Hakima El Idrissi, Tamara T Koopmann
Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent. Programmes for preconception and antenatal carrier screening, with the option of prenatal diagnosis are considered beneficial in many endemic countries. With the development of genetic tools such as Array analysis and Next Generation Sequencing in addition to state of the art screening at the hematologic, biochemic and genetic level, have contributed to the discovery of an increasing number of rare rearrangements and novel factors influencing the disease severity over the recent years...
September 2022: International Journal of Laboratory Hematology
#39
JOURNAL ARTICLE
Xin Wang, Xian-Wei Guan, Yan-Yun Wang, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Yun Sun, Tao Jiang
PURPOSE: Newborn screening (NBS) applications are limited as they can only cover a few genetic diseases and may have false positive or false negative rates. A new detection program called newborn genetic screening (NBGS) has been designed to address the potential defects of NBS. This study aimed to investigate the perceptions, acceptance, and expectations of childbearing people related to NBGS to provide the basis for the targeted improvement in the NBGS program carried out in Hospitals...
August 26, 2022: Orphanet Journal of Rare Diseases
#40
Irena Bradinova, Silvia Andonova, Alexey Savov
Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. Pontocerebellar hypoplasia type 1B is caused by mutations in EXOSC3 gene. High prevalence of the p.Gly31Ala mutation was found recently, especially in the Roma ethnic minority. We present a young Bulgarian Roma family with two deceased newborn children manifesting severe neuromuscular disorder including severe muscle weakness, respiratory distress, and multiple joint contractures...
September 2022: Journal of Pediatric Genetics
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