To see the other types of publications on this topic, follow the link: Genetic Carrier Screening.

Journal articles on the topic 'Genetic Carrier Screening'

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Genetic Carrier Screening.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Buckley, Lauren E., Maeve K. Hopkins, and Jeffrey A. Kuller. "The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges." Obstetrical & Gynecological Survey 78, no. 8 (2023): 483–89. http://dx.doi.org/10.1097/ogx.0000000000001168.

Full text
Abstract:
ABSTRACT Importance Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications. Objective This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening. Evidence Acquisiti
APA, Harvard, Vancouver, ISO, and other styles
2

Clevenger, Sydney K., Justin S. Brandt, Shama P. Khan, et al. "Rate of Manifesting Carriers and Other Unexpected Findings on Carrier Screening." Obstetrical & Gynecological Survey 78, no. 7 (2023): 391–93. http://dx.doi.org/10.1097/01.ogx.0000947136.14734.37.

Full text
Abstract:
(Abstracted from Prenat Diagn 2023;43:117–125) Obstetric care includes many types of assessment of both mother and baby, including screening for genetic conditions. This can be done through genetic tests referred to as carrier screening, which detect carriers at risk to have children with autosomal recessive and X-linked recessive conditions.
APA, Harvard, Vancouver, ISO, and other styles
3

Driscoll, D. A., H. M. Sehdev, and D. A. Marchiano. "Prenatal Carrier Screening for Genetic Conditions." NeoReviews 5, no. 7 (2004): e290-e295. http://dx.doi.org/10.1542/neo.5-7-e290.

Full text
APA, Harvard, Vancouver, ISO, and other styles
4

Kirk, Edwin P., Martin B. Delatycki, Alison D. Archibald, et al. "Nationwide, Couple-Based Genetic Carrier Screening." New England Journal of Medicine 391, no. 20 (2024): 1877–89. http://dx.doi.org/10.1056/nejmoa2314768.

Full text
APA, Harvard, Vancouver, ISO, and other styles
5

Begleiter, Michael L., Janda L. Buchholz, Andrea M. Atherton, Lee Z. Mays, Molly M. Lund, and Meghan E. Strenk. "Ashkenazi Jewish genetic disease carrier screening." Genetics in Medicine 10, no. 6 (2008): 461. http://dx.doi.org/10.1097/gim.0b013e318170f87e.

Full text
APA, Harvard, Vancouver, ISO, and other styles
6

Gross, Susan J., Beth A. Pletcher, and Kristin G. Monaghan. "Ashkenazi Jewish genetic disease carrier screening." Genetics in Medicine 10, no. 6 (2008): 461–62. http://dx.doi.org/10.1097/gim.0b013e31817102e1.

Full text
APA, Harvard, Vancouver, ISO, and other styles
7

Kirk, E. P., M. B. Delatycki, A. D. Archibald, et al. "Nationwide, Couple-Based Genetic Carrier Screening." Obstetrical & Gynecological Survey 80, no. 5 (2025): 287–89. https://doi.org/10.1097/01.ogx.0001113780.63216.2a.

Full text
Abstract:
(Abstracted from N Engl J Med 2024;391:1877–1889) Couple-based genetic carrier screening analyzes parental genetic samples before or early in pregnancy to assess the risk of autosomal and X-linked recessive diseases in their children. Previously, carriers were often unidentified until after having an affected child but advances in sequencing now allow simultaneous screening across thousands of genes, giving prospective parents greater insight into their risk.
APA, Harvard, Vancouver, ISO, and other styles
8

Kirk, EP, MB Delatycki, AD Archibald, et al. "Nationwide, Couple-Based Genetic Carrier Screening." Obstetric Anesthesia Digest 45, no. 1 (2025): 36–37. https://doi.org/10.1097/01.aoa.0001097628.96519.7d.

Full text
Abstract:
(N Engl J Med. 2024;391:1877–1889. doi:10.1056/NEJMoa2314768) The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) aimed to assess the feasibility and outcomes of offering reproductive genetic carrier screening (RGCS) to more than 10,000 reproductive couples, focusing on the identification of pathogenic variants in genes associated with severe, childhood-onset conditions. The study tested these couples (free of charge) for pathogenic variants in at least 1281 genes, linked to about 750 autosomal recessive or X-linked conditions. The primary objective was to evalu
APA, Harvard, Vancouver, ISO, and other styles
9

Edwards, Samantha, and Nigel Laing. "Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review." Journal of Personalized Medicine 12, no. 10 (2022): 1699. http://dx.doi.org/10.3390/jpm12101699.

Full text
Abstract:
Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs and values. Traditionally, carrier screening has been accessed by family members of affected individuals. In recent years, improvements to accessibility and updates to recommendations suggest that all women planning or in early pregnancy should be offered reproductive genetic carrier scre
APA, Harvard, Vancouver, ISO, and other styles
10

Briggs, Allison, Parvaneh Nouri, Michael Galloway, Jerome L. Yaklic, Rose Maxwell, and Steven Lindheim. "Genetic Carrier Screening (GCS) in Clinical Practice." Obstetrics & Gynecology 129 (May 2017): 81S. http://dx.doi.org/10.1097/01.aog.0000514902.97016.56.

Full text
APA, Harvard, Vancouver, ISO, and other styles
11

Kihlbom, Ulrik. "Ethical issues in preconception genetic carrier screening." Upsala Journal of Medical Sciences 121, no. 4 (2016): 295–98. http://dx.doi.org/10.1080/03009734.2016.1189470.

Full text
APA, Harvard, Vancouver, ISO, and other styles
12

Wiwanitkit, Viroj. "Preconception genetic carrier screening: use and problems." Upsala Journal of Medical Sciences 122, no. 1 (2016): 67. http://dx.doi.org/10.1080/03009734.2016.1230158.

Full text
APA, Harvard, Vancouver, ISO, and other styles
13

Vukovic, Vladimir, Antonella Agodi, Baroukh Assael, et al. "VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy." International Journal of Technology Assessment in Health Care 33, S1 (2017): 197. http://dx.doi.org/10.1017/s0266462317003658.

Full text
Abstract:
INTRODUCTION:Cystic Fibrosis (CF) is a genetic disorder caused by mutations in CFTR gene. In Italy, reported prevalence is approximately .70 per 10,000 inhabitants (1). The practice and recommendations for Cystic Fibrosis carrier screening are very heterogeneous in Europe. A proposal of a carrier genetic test in the general population raises many questions. Health Technology Assessment (HTA) could offer a sound methodological basis for this evaluation. The aim of this work was to summarize the available evidence, using the HTA approach, on the genetic tests for Cystic Fibrosis carrier screenin
APA, Harvard, Vancouver, ISO, and other styles
14

Hillenbrand, Christen M., Brynn Zerbe, Emily O'Brien, and William M. Curtin. "Effect of Provider Practices and Genetic History on the Implementation of ACOG Carrier Screening [ID 1584]." Obstetrics & Gynecology 145, no. 6S (2025): 61S. https://doi.org/10.1097/aog.0000000000005918.009.

Full text
Abstract:
INTRODUCTION: The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant patients and those planning pregnancies receive information on carrier screening. Few studies have evaluated provider practices and patient factors that might influence carrier screening counseling and completion. METHODS: This two-part study surveyed obstetric providers about their application of carrier screening guidelines and retrospectively reviewed the charts of 600 patients who delivered between July 2020 and June 2021 at a single institution. Survey data was reviewed and patient de
APA, Harvard, Vancouver, ISO, and other styles
15

Gregg, Anthony R., and Janice G. Edwards. "Prenatal genetic carrier screening in the genomic age." Seminars in Perinatology 42, no. 5 (2018): 303–6. http://dx.doi.org/10.1053/j.semperi.2018.07.019.

Full text
APA, Harvard, Vancouver, ISO, and other styles
16

Henneman, Lidewij. "Genetic Carrier Screening — Call for a Global Mission." New England Journal of Medicine 391, no. 20 (2024): 1947–48. http://dx.doi.org/10.1056/nejme2410086.

Full text
APA, Harvard, Vancouver, ISO, and other styles
17

Yao, Ruofan, and Katherine R. Goetzinger. "Genetic Carrier Screening in the Twenty-first Century." Clinics in Laboratory Medicine 36, no. 2 (2016): 277–88. http://dx.doi.org/10.1016/j.cll.2016.01.003.

Full text
APA, Harvard, Vancouver, ISO, and other styles
18

Cao, Antonio. "Carrier screening and genetic counselling in β-thalassemia". International Journal of Hematology 76, S2 (2002): 105–13. http://dx.doi.org/10.1007/bf03165098.

Full text
APA, Harvard, Vancouver, ISO, and other styles
19

Ekstrand Ragnar, Maria, Tanja Tydén, Ulrik Kihlbom, and Margareta Larsson. "Swedish parents’ interest in preconception genetic carrier screening." Upsala Journal of Medical Sciences 121, no. 4 (2016): 289–94. http://dx.doi.org/10.1080/03009734.2016.1218575.

Full text
APA, Harvard, Vancouver, ISO, and other styles
20

Eng, Christine M. "Prenatal Genetic Carrier Testing Using Triple Disease Screening." JAMA: The Journal of the American Medical Association 278, no. 15 (1997): 1268. http://dx.doi.org/10.1001/jama.1997.03550150072038.

Full text
APA, Harvard, Vancouver, ISO, and other styles
21

Eng, C. M. "Prenatal genetic carrier testing using triple disease screening." JAMA: The Journal of the American Medical Association 278, no. 15 (1997): 1268–72. http://dx.doi.org/10.1001/jama.278.15.1268.

Full text
APA, Harvard, Vancouver, ISO, and other styles
22

Quinteiro Retamar, A., C. M. Borghi, G. Fiszbajn, et al. "Genetic carrier screening in an egg donor program." Fertility and Sterility 104, no. 3 (2015): e14-e15. http://dx.doi.org/10.1016/j.fertnstert.2015.07.045.

Full text
APA, Harvard, Vancouver, ISO, and other styles
23

Henneman, L. "Genetic Carrier Screening—Call for a Global Mission." Obstetric Anesthesia Digest 45, no. 1 (2025): 37. https://doi.org/10.1097/01.aoa.0001097632.04380.b4.

Full text
Abstract:
(N Engl J Med. 391;20. doi:10.1056/NEJMe2410086) The unexpected diagnosis of a severe genetic condition in a child often reveals to parents their risk of passing the condition on to future children. This was the experience of Rachael and Jonathan Casella, whose daughter Mackenzie was diagnosed with spinal muscular atrophy and died at 7 months. This tragic event motivated the couple to advocate for widespread carrier screening, which could help parents make informed reproductive choices before or during pregnancy. In response to their efforts, the Australian Government launched Mackenzie’s Miss
APA, Harvard, Vancouver, ISO, and other styles
24

Boulton, Mary, and Robert Williamson. "General practice and new genetics: what do general practitioners know about community carrier screening for cystic fibrosis?" Public Understanding of Science 4, no. 3 (1995): 255–67. http://dx.doi.org/10.1088/0963-6625/4/3/004.

Full text
Abstract:
As one of the first genetic conditions for which community carrier screening is possible, cystic fibrosis provides an opportunity to examine the way in which health professionals understand and assess issues associated with the clinical applications of the `new genetics'. This paper presents the results of a postal survey of general practitioners in the UK. Completed questionnaires were returned by 388 GPs (64%). The majority had a limited understanding of the epidemiology and population genetics of CF. Less than half (164, 44%) indicated the correct estimate of carrier frequency and only a th
APA, Harvard, Vancouver, ISO, and other styles
25

Haryanti, Eliza, and Legiran Legiran. "Literature Review: Expanded Carrier Screening dan Keputusan Reproduksi." Jurnal Ilmu Kesehatan Masyarakat 12, no. 06 (2023): 438–48. http://dx.doi.org/10.33221/jikm.v12i06.1948.

Full text
Abstract:
Dengan melakukan skrining genetik, calon orang tua dapat memperoleh informasi tentang apakah mereka memiliki peningkatan risiko mengandung anak yang terkena kondisi autosomal resesif atau terkait-X yang nantinya dapat mempengaruhi perencanaan dan tata laksana selama prakonsepsi dan masa kehamilan. Expanded carrier screening (ECS) merupakan pilihan bagi pasien dalam mengambil keputusan reproduksi dengan mempertimbangkan informasi genetik. Artikel ini bertujuan meninjau literatur yang tersedia saat ini tentang faktor-faktor yang terkait dengan pengambilan keputusan pasangan reproduksi setelah me
APA, Harvard, Vancouver, ISO, and other styles
26

Sagi, Michal. "Ethical Aspects of Genetic Screening in Israel." Science in Context 11, no. 3-4 (1998): 419–29. http://dx.doi.org/10.1017/s0269889700003112.

Full text
Abstract:
The ArgumentAdvances in genetic research make it possible to identify carriers of a growing number of genetic diseases. The World Health Organization (WHO) published several preconditions for community carrier screening. This paper aims to present some of the dilemmas about screening in Israel and the difficulties in following the WHO's helpful criteria.
APA, Harvard, Vancouver, ISO, and other styles
27

Ревазян, К. З., А. Н. Мешков, А. И. Ершова, et al. "Sociological aspects of genetic carrier screening for autosomal recessive disorders." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 10(219) (October 30, 2020): 86–88. http://dx.doi.org/10.25557/2073-7998.2020.10.86-88.

Full text
Abstract:
Генетический скрининг на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний является важным звеном профилактики наследственных заболеваний на этапе планирования семьи. Пациентам поликлиники НОМТЦ МГТУ им. Н.Э. Баумана в возрасте 18-49 лет (женщины) и от 18 лет (мужчины) было предложено ознакомиться с брошюрой о генетическом скрининге на носительство вариантов, вызывающих развитие аутосомно-рецессивных заболеваний и заполнить анонимный опросник для выявления отношения к скринингу. Анкетирование продемонстрировало положительное отношение участников к проведению генетич
APA, Harvard, Vancouver, ISO, and other styles
28

Henneman, Lidewij, Francis A. M. Poppelaars, and Leo P. ten Kate. "Evaluation of cystic fibrosis carrier screening programs according to genetic screening criteria." Genetics in Medicine 4, no. 4 (2002): 241–49. http://dx.doi.org/10.1097/00125817-200207000-00002.

Full text
APA, Harvard, Vancouver, ISO, and other styles
29

Peyser, A., T. Singer, C. Mullin, S. L. Bristow, K. Onel, and A. Hershlag. "Preconception expanded carrier screening (ECS) is superior to ethnicity-based genetic screening." Fertility and Sterility 108, no. 3 (2017): e263-e264. http://dx.doi.org/10.1016/j.fertnstert.2017.07.788.

Full text
APA, Harvard, Vancouver, ISO, and other styles
30

Delatycki, Martin. "Reproductive Carrier Screening and Its Increasing Importance in Fertility Management." Fertility & Reproduction 05, no. 04 (2023): 258. http://dx.doi.org/10.1142/s2661318223740729.

Full text
Abstract:
Advances in genetics have had a huge impact on reproductive choices. Reproductive carrier screening has transitioned from testing for a small number of conditions, often ethnically specific, to pan ethnic large panels. The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission), funded by the Medical Research Future Fund, studied the acceptability and feasibility of offering such a large panel to couples pre pregnancy or in the early stages of pregnancy. Screening of around 1300 genes was offered by healthcare professionals. Education and consent were largely through an
APA, Harvard, Vancouver, ISO, and other styles
31

Chan, Olivia Yiu-Man, and Tze-Kin Lau. "Expanded carrier screening for recessive genetic disorders: a review." Hong Kong Journal of Gynaecology, Obstetrics and Midwifery 20, no. 1 (2020): 48–52. http://dx.doi.org/10.12809/hkjgom.20.1.08.

Full text
APA, Harvard, Vancouver, ISO, and other styles
32

Arjunan, Aishwarya, Karen Litwack, Nick Collins, and Joel Charrow. "Carrier screening in the era of expanding genetic technology." Genetics in Medicine 18, no. 12 (2016): 1214–17. http://dx.doi.org/10.1038/gim.2016.30.

Full text
APA, Harvard, Vancouver, ISO, and other styles
33

Briggs, Allison, Parvaneh Nouri, Michael Galloway, Jerome L. Yaklic, Rose Maxwell, and Steven Lindheim. "Patients’ Awareness and Attitudes Towards Genetic Carrier Screening [22H]." Obstetrics & Gynecology 129 (May 2017): 88S. http://dx.doi.org/10.1097/01.aog.0000514924.67415.e7.

Full text
APA, Harvard, Vancouver, ISO, and other styles
34

Wong, Johanna. "Thalassaemia." InnovAiT: Education and inspiration for general practice 15, no. 3 (2021): 145–53. http://dx.doi.org/10.1177/17557380211048921.

Full text
Abstract:
Thalassaemias are among the most common genetic disorders worldwide; an estimated 1.5% of the global population carries a thalassaemia mutation. Originally associated with tropical and sub-tropical regions, migration has facilitated wider dispersal, concentrated in larger multi-ethnic conurbations. Thalassaemias are heterogeneous, ranging from asymptomatic to causing severe haemolytic anaemia with pan-corporal sequelae and complications. Carriers benefit from access to pre-conception and antenatal advice and screening. The National Health Service Antenatal Haemoglobinopathy Screening Programme
APA, Harvard, Vancouver, ISO, and other styles
35

Talantova, Olga E., Tatyana B. Postnikova, Anastasiia A. Mikhailova, and Olesya N. Bespalova. "Modern view of preconception carrier screening." Journal of obstetrics and women's diseases 73, no. 1 (2024): 149–56. http://dx.doi.org/10.17816/jowd623670.

Full text
Abstract:
The article provides an overview current literature covering the issues of preconception carrier screening.
 Hereditary diseases make a large contribution to disability, deterioration in quality of life and reduction in life expectancy, primarily among the child population. Treatment and rehabilitation of patients with hereditary diseases is accompanied by serious economic costs, as well as psychological and social problems. In many countries, preference for preventive measures over treatment measures is enshrined in law. Awareness of preconception carrier screening among non-genetic doct
APA, Harvard, Vancouver, ISO, and other styles
36

La Pean, A. "Initially Misleading Communication of Carrier Results After Newborn Genetic Screening." PEDIATRICS 116, no. 6 (2005): 1499–505. http://dx.doi.org/10.1542/peds.2005-0449.

Full text
APA, Harvard, Vancouver, ISO, and other styles
37

Archibald, Alison D., John Massie, Melanie J. Smith, Deborah G. Dalton, Desirée Du Sart, and David J. Amor. "Population‐based genetic carrier screening for cystic fibrosis in Victoria." Medical Journal of Australia 200, no. 4 (2014): 205–6. http://dx.doi.org/10.5694/mja13.10864.

Full text
APA, Harvard, Vancouver, ISO, and other styles
38

Gates, Alyssa, Sharon F. Terry, and Natasha Bonhomme. "Expanded Carrier Screening and Its Implications on Genetic Testing Protocols." Genetic Testing and Molecular Biomarkers 20, no. 11 (2016): 643–44. http://dx.doi.org/10.1089/gtmb.2016.29023.sjt.

Full text
APA, Harvard, Vancouver, ISO, and other styles
39

Avnat, Eden, Guy Shapira, Shelly Shoval, et al. "Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening." Genes 14, no. 4 (2023): 937. http://dx.doi.org/10.3390/genes14040937.

Full text
Abstract:
Background: Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders. Methods: Variant calling of whole-genome sequencing (WGS) of 40 Druze from the Human Genome Diversity Project (HGDP) was performed (HGDP-cohort). Additionally, we performed whole exome sequencing (WES) of 118 Druze individuals: 38 trios and 2 couples, representing geographically distinct clans (WES-cohort). Rates of validated PV were compared with rates in worldwide and Middle Eastern populations, from the gnomAD and dbSNP d
APA, Harvard, Vancouver, ISO, and other styles
40

Van Steijvoort, Eva, and Pascal Borry. "Ethical and Practical Considerations in Implementing Population-Based Reproductive Genetic Carrier Screening." Genes 16, no. 4 (2025): 423. https://doi.org/10.3390/genes16040423.

Full text
Abstract:
Reproductive genetic carrier screening (RGCS) has emerged as a promising tool for identifying couples with an increased likelihood of conceiving a child with an autosomal recessive or X-linked genetic condition. By enabling early detection, RGCS has the potential to support informed reproductive decision-making. Historically, carrier screening initiatives aimed to decrease the prevalence of specific genetic disorders by targeting particular high-risk populations. More recently, there has been a shift towards offering RGCS for a wider range of conditions, with the goal of enhancing reproductive
APA, Harvard, Vancouver, ISO, and other styles
41

Wang, Tianjiao, Paul Scuffham, Joshua Byrnes, Martin B. Delatycki, and Martin Downes. "An Overview of Reproductive Carrier Screening Panels for Autosomal Recessive and/or X-Linked Conditions: How Much Do We Know?" Obstetrical & Gynecological Survey 79, no. 4 (2024): 198–200. http://dx.doi.org/10.1097/01.ogx.0001016676.30655.97.

Full text
Abstract:
(Abstracted from Prenatal Diagnosis 2023;43:1416–1424 Reproductive carrier screening is designed to identify couples who are at a high risk of passing genetic disorders to their children. Advances in genetic screening technology have recently allowed for the commercial development and availability of genetic tests that can screen for autosomal recessive and X-linked genes for many disorders simultaneously.
APA, Harvard, Vancouver, ISO, and other styles
42

Davidson, Joanne E., Jacqueline S. Russell, Noelia Nunez Martinez, et al. "The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers." Genes 14, no. 7 (2023): 1403. http://dx.doi.org/10.3390/genes14071403.

Full text
Abstract:
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers. This study aims to quantify the various genotypes among parents of children with SMA. Method: A retrospective cohort study was undertaken at Sydney Children’s Hospital Network, the major SMA referral centre for New South Wales, Australia. Participants included children with genetically confirmed SMA born between 2005 and 2021. Data
APA, Harvard, Vancouver, ISO, and other styles
43

Legro, Nicole, Corinne Mccullough, Allison Kumnick, Neggin Mokhtari, and Lylach Haizler-Cohen. "Patient Understanding of Carrier Screening With an Educational Video Intervention [ID 2683583]." Obstetrics & Gynecology 143, no. 5S (2024): 60S. http://dx.doi.org/10.1097/01.aog.0001013776.05349.3e.

Full text
Abstract:
INTRODUCTION: Carrier screening allows patients to understand their risk of passing on a recessive genetic disease. Clinical visits have limited time to explain concepts behind carrier screening and access to genetic counseling may not be available. We sought to understand patient's baseline knowledge of carrier screening and whether an educational video intervention can improve understanding of this test. METHODS: This was a pilot randomized controlled trial administered between July 1, 2023 and July 31, 2023, where participants were recruited at their first obstetrics visit. They were random
APA, Harvard, Vancouver, ISO, and other styles
44

Guomei, Cao, Zhang Luyan, Dai Lingling, Huang Chunhong, and Chen Shan. "Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China." Computational and Mathematical Methods in Medicine 2022 (January 10, 2022): 1–8. http://dx.doi.org/10.1155/2022/1713337.

Full text
Abstract:
Objective. To detect the carrier rates of deafness gene variants in populations in Ningbo and analyze the risk of hereditary hearing loss through concurrent hearing and genetic screening tests. Methods. Two thousand one hundred and seventy-four newborns were enrolled from November 2018 to August 2019. All subjects underwent hearing screening and newborn deafness genetic screening with 15 variants in 4 genes, and the positive sites were simultaneously verified by sequencing. Results. The total carrier rate of genetic variants in Ningbo reached 4.32%, when GJB2 c.235delC was the variant with the
APA, Harvard, Vancouver, ISO, and other styles
45

Hull, Leland E., David Cheng, Mie H. Hallman, M. L. Rieu-Werden, and Jennifer S. Haas. "Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System." JAMA Network Open 5, no. 11 (2022): e2240829. http://dx.doi.org/10.1001/jamanetworkopen.2022.40829.

Full text
Abstract:
ImportanceReproductive 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.ObjectiveTo 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.Desig
APA, Harvard, Vancouver, ISO, and other styles
46

Archibald, Alison D., Belinda J. McClaren, Jade Caruana, et al. "The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation." Journal of Personalized Medicine 12, no. 11 (2022): 1781. http://dx.doi.org/10.3390/jpm12111781.

Full text
Abstract:
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. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible R
APA, Harvard, Vancouver, ISO, and other styles
47

van Dijke, Ivy, Phillis Lakeman, Naoual Sabiri, et al. "Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer." European Journal of Human Genetics 29, no. 8 (2021): 1252–58. http://dx.doi.org/10.1038/s41431-021-00923-9.

Full text
Abstract:
AbstractPreconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and
APA, Harvard, Vancouver, ISO, and other styles
48

Gbur, Samantha, Logan Mauney, Kathryn J. Gray, Louise Wilkins-Haug, and Stephanie Guseh. "Counseling for Personal Health Implications Identified During Reproductive Genetic Carrier Screening." Obstetrical & Gynecological Survey 77, no. 4 (2022): 191–93. http://dx.doi.org/10.1097/ogx.0000000000001027.

Full text
APA, Harvard, Vancouver, ISO, and other styles
49

Aluko, Ashley, Emily Seidler, and Alan Penzias. "Prepregnancy Genetic Carrier Screening in Recipients of Hematopoietic Stem Cell Transplants." Obstetrics & Gynecology 134, no. 4 (2019): 756–58. http://dx.doi.org/10.1097/aog.0000000000003456.

Full text
APA, Harvard, Vancouver, ISO, and other styles
50

Larion, Sebastian, Steven Warsof, Kathleen Maher, David Peleg, and Alfred Abuhamad. "Success of Universal Carrier Screening for Fetal Diagnosis of Genetic Disease." Obstetrics & Gynecology 127 (May 2016): 128S. http://dx.doi.org/10.1097/01.aog.0000483518.67531.79.

Full text
APA, Harvard, Vancouver, ISO, and other styles
We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!