Article
Obstetrics & Gynecology
Chih-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Miao-Zi Hung, Yi-Lin Lin, Shin-Yu Lin, Chien-Nan Lee
Summary: This study aims to identify recessive diseases in pediatric patients in Taiwan and determine if current carrier screening panels can detect pathogenic variants in carrier parents. The most frequently identified mutations were in COQ4, PEX1, OTC, and IKBKG, and the commercial panels covered 35.13% to 54.05% of the diagnosed disorders in this study.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS
(2023)
Article
Genetics & Heredity
Deborah Schofield, Evelyn Lee, Jayamala Parmar, Simon Kelly, Matthew Hobbs, Nigel Laing, Jan Mumford, Rupendra Shrestha
Summary: The purpose of this study was to evaluate the cost effectiveness of population-based, expanded reproductive carrier screening. The results showed that expanded screening was cost effective and could avert a significant number of affected births and save healthcare resources.
GENETICS IN MEDICINE
(2023)
Article
Ethics
Lisa Dive, Ainsley J. Newson
Summary: Reproductive genetic carrier screening (RCS) focuses on individual values of freedom of choice and reproductive autonomy, but its public health implications should not be ignored. A public health ethics approach to RCS should also consider values such as equity and solidarity to guide the aims and implementation of screening programs.
PUBLIC HEALTH ETHICS
(2021)
Article
Obstetrics & Gynecology
Julia Silver, Mary E. Norton
Summary: The use of expanded carrier screening, which can test for hundreds of genetic disorders at the same time, presents challenges and complexities due to the limited knowledge of genetic sequencing among front-line obstetric health care professionals. Urgent attention is required to address issues such as reclassification of variants, pretest and posttest counseling, and the responsibilities of health care professionals in ensuring patients understand the process of variant interpretation.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
Molly R. Payne, Anne-Bine Skytte, Joyce C. Harper
Summary: The study found that 17.6% of sperm and egg donors were rejected based on ECS screening, with carriers of alpha-thalassaemia being the most rejected group. The need for consistent EU regulations and guidelines that allow genetic matching of gamete donors to recipients was highlighted in order to avoid rejecting known carriers.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Keya Tong, Wenbin He, Yao He, Xiurong Li, Liang Hu, Hao Hu, Guangxiu Lu, Ge Lin, Chang Dong, Victor Wei Zhang, Juan Du, Dongyun Liu
Summary: Medical exome sequencing was used to identify carrier spectrum in the Chinese population, showing that 94.5% of individuals carried at least one disease-causing variant. This study highlights the importance of Expanded Carrier Screening in identifying at-risk couples.
FRONTIERS IN GENETICS
(2022)
Article
Obstetrics & Gynecology
A. Capalbo, M. Fabiani, S. Caroselli, M. Poli, L. Girardi, C. Patassini, F. Favero, D. Cimadomo, A. Vaiarelli, C. Simon, L. F. Rienzi, F. M. Ubaldi
Summary: The preconception Expanded Carrier Screening (ECS) shows clinical utility and effectiveness in managing prospective parents, especially in improving couples' genetic risk assessment and avoiding detectable inheritable genetic offspring. The study results demonstrate that ECS can significantly impact reproductive planning and decision-making for at-risk couples.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Fang Zhang, Jianxin Tan, Binbin Shao, Tao Jiang, Ran Zhou, Yan Wang, Jingjing Zhang, Fengchang Qiao, Xiuqing Ji, Ya Wang, Ping Hu, Zhengfeng Xu
Summary: Overall, the reproductive-aged population in Eastern China showed positive attitudes towards ECS, but there were some misconceptions about ECS and genetic diseases. Participants who showed initial interest, had prior awareness, or perceived benefits were more likely to intend to undergo ECS. Those with a bachelor's degree or above, or with a household income over 150,000 CNY, were more likely to pay ≥ 1000 CNY for the test.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Genetics & Heredity
David A. Zeevi, Daniel Backenroth, Elinor Hakam-Spector, Paul Renbaum, Tzvia Mann, Fouad Zahdeh, Reeval Segel, Sharon Zeligson, Talia Eldar-Geva, Ido Ben-Ami, Adi Ben-Yehuda, Shai Carmi, Gheona Altarescu
Summary: This study extended the Haploseek method by incorporating DNA from embryo grandparents and conducting systematic validation on 151 embryo biopsies from 27 clinical PGT cases. Results demonstrated that Haploseek accurately predicted haplotypes and CNVs in all cases, making it suitable for standard clinical PGT applications for various genetic disorders.
GENETICS IN MEDICINE
(2021)
Article
Public, Environmental & Occupational Health
Eva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, Jasper Verguts, Karen Peeraer, Gert Matthijs, Pascal Borry
Summary: A study found that nearly half of the global electricity generation in May came from renewable energy sources, with solar and wind energy accounting for over 90% of the total renewable electricity generation.
PATIENT EDUCATION AND COUNSELING
(2022)
Article
Genetics & Heredity
Erwin Birnie, Juliette Schuurmans, Mirjam Plantinga, Kristin M. Abbott, Angela Fenwick, Anneke Lucassen, Marjolein Y. Berger, Irene M. van Langen, Adelita V. Ranchor
Summary: The study examined the psychological outcomes of couple-based expanded preconception carrier screening (ECS) for 50 autosomal recessive (AR) conditions. Most participants were satisfied with their decision on testing, and overall levels of anxiety and worry were low. Although some individuals reported increased anxiety or worry, the psychological outcomes were deemed acceptable and not a barrier to population-wide implementation.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Dan Morgenstern-Kaplan, Jaime Raijman-Policar, Sore Majzner-Aronovich, Swaroop Aradhya, Daniel E. Pineda-Alvarez, Monica Aguinaga, Edna Elisa Garcia-Vences
Summary: This study aimed to determine the heterozygote frequency of disease-causing variants in the Mexican Jewish community (MJC). The results showed that 72.1% of participants carried at least one severe disease-causing variant in the analyzed genes. The most common genes with severe disease-causing variants were CFTR, MEFV, WNT10A, and GBA. Comparison with the Genome Aggregation Database (gnomAD) revealed statistically significant differences in variant frequencies. Additionally, 6% of couples were at risk of having a child with a severe disorder. The study highlights the importance of using carrier screening in the MJC and other understudied populations to facilitate informed decision-making for parents.
GENETICS IN MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Lieke M. van den Heuvel, Nina van den Berg, A. Cecile J. W. Janssens, Erwin Birnie, Lidewij Henneman, Wybo J. Dondorp, Mirjam Plantinga, Irene M. van Langen
Summary: This scoping review examined the potential societal implications of implementing expanded universal carrier screening (EUCS) based on theoretical studies and empirical evidence. The review identified potential positive implications, such as reduction of ethnic stigmatization and increased equity, as well as potential negative implications, including reinforcement of disability-based stigmatization and societal pressure. However, empirical evidence on these implications is lacking. Further research is needed to determine which societal implications are likely to occur.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Ivy van Dijke, Phillis Lakeman, Naoual Sabiri, Hanna Rusticus, Cecile P. E. Ottenheim, Inge B. Mathijssen, Martina C. Cornel, Lidewij Henneman
Summary: Preconception carrier screening allows couples to assess the risk of having a child with a recessive disorder. A study on an expanded carrier screening test for 50 severe autosomal recessive disorders at a Dutch university hospital found that most participants chose to undergo the test to prevent their future children from suffering from severe disorders. Participants generally made informed decisions but found the test results waiting time to be too long and costs too high.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Editorial Material
Obstetrics & Gynecology
Blair K. Stevens, Peyton B. Nunley, Chelsea Wagner, Lauren Murphy, Theresa Wittman, Aarti Ramdaney, Malorie Jones, Meagan Giles Choates
Summary: Routine screening with prenatal ultrasound is now recommended for all pregnancies due to the 3% risk for congenital anomalies. Detected anomalies that receive a prenatal diagnosis can benefit from more targeted prenatal and postnatal care recommendations.
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2022)