Taiwan is an emerging industrial country in subtropical Asia with a population of 23 million. There were around 200,000 newborns in 2011. Delayed first marriage, low birth rate, and rapid aging are major demographic issues. Genetic counseling services were established following the rapid introduction of genetic technology and enactment of relevant laws and regulations. Ultrasound was first used in 1968 to examine pregnant women. The first amniotic fluid laboratory was founded in 1981 to identify chromosomal abnormalities. In 1984, the Genetic Health Act was legislated for prevention and control of genetic disorders, and the metabolic disorder screen project was launched. National Health Insurance with overall coverage of prenatal examinations was established in 1995. A master-level genetic counseling program was launched in 2003 and by 2011 has graduated eighty students. Two professional societies have been formed to certify genetic counselors, and 66 professionals have been certified. In summary, genetic counseling services in Taiwan are continuously improving.
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http://dx.doi.org/10.1007/s10897-013-9586-2 | DOI Listing |
Neurology
February 2025
Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, the Netherlands.
Background And Objectives: Identifying genetic causes of dementia in patients visiting memory clinics is important for patient care and family planning. Traditional clinical selection criteria for genetic testing may miss carriers of pathogenic variants in dementia-related genes. This study aimed identify how many carriers we are missing and to optimize criteria for selecting patients for genetic counseling in memory clinics.
View Article and Find Full Text PDFCurr Protoc
January 2025
Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.
Balanced translocation carriers experience elevated reproductive risks, including pregnancy loss and children with anomalies due to generating chromosomally unbalanced gametes. While understanding the likelihood of producing unbalanced conceptuses is critical for individuals to make reproductive decisions, risk estimates are difficult to obtain as most balanced translocations are unique. To improve reproductive risk estimates, Drs.
View Article and Find Full Text PDFInt J Gynecol Pathol
January 2025
Department of Pathology and Immunology, Washington University.
High-grade serous carcinomas (HGSCs) with homologous recombination deficiency (HRD) respond favorably to platinum therapy and poly ADP ribose polymerase (PARP) inhibitors. Mutations in BRCA1 and BRCA2 commonly cause HRD and have been associated with Solid, pseudoEndometrioid, and Transitional-like (SET-like) histology. Mutations in other homologous recombination repair (HRR) genes as well as epigenetic changes can also result in HRD; however, morphologic correlates have not been well-explored in these cases.
View Article and Find Full Text PDFJ Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Ann Clin Transl Neurol
January 2025
Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
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