Jul 2026· Journal of Human Genetics· 0 citations· 15 references
Medicine
TL;DR
Challenges associated with the clinical implementation of comprehensive prenatal genetic testing in Japan are identified through a survey of obstetricians and gynecologists, and doctors certified in perinatal genetics were more likely to cite social issues and the presence of non-certified facilities.
Stillbirth affects approximately 1 in 175 pregnancies annually in the United States. Although the American College of Obstetricians and Gynecologists recommends genetic testing as part of the stillbirth evaluation, families often face barriers to obtaining a complete evaluation. Expansion of the diagnostic evaluation o...
Hector Marin, Michelle E. Florido, Carina Bertolini et al.· Journal of Genetic Counselin...· 0 citations
This study evaluated the association between first-trimester ultrasound abnormalities and prenatal test selection within a centralized genetic counseling system in Japan. Advances in ultrasound screening and the increasing use of non-invasive prenatal testing (NIPT) have expanded prenatal testing options, increasing th...
Koutarou Doi, Masatoshi Yamaguchi, Minayo Iwai et al.· Journal of Genetic Counselin...· 0 citations
Objective To investigate the role of NIPT 2.0 in prenatal screening among populations undergoing PGT. Methods This study enrolled 113 patients who underwent NIPT 2.0 after 12 weeks of gestation at the Reproductive Medicine Center of Peking University Third Hospital between January 2024 and July 2025. Patients were cate...
Hong-Wei Yan, Yun Wang, Ming-Jia Zhao et al.· Frontiers in Medicine· 0 citations
This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non-invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies. An integrative review was conduct...
Geovanna Saboia Veras, J. Bennini· International journal of gyn...· 0 citations
BACKGROUND
Genetic disorders contribute substantially to childhood morbidity, yet access to genetic testing in Nepal is limited by cost, availability, and a shortage of expertise. Evidence on testing practices and outcomes is scarce. This study aimed to describe the patterns, clinical indications, and outcomes of genet...
Surabhi Aryal, L. Bajracharya, D. Poudel et al.· Journal of Nepal Health Rese...· 0 citations
Abstract Background One significant concern during pregnancy is the possibility of chromosomal malformations. While prenatal screenings are intended to reassure parents about the health of their unborn child, how reliable are these results when deemed suspicious? Objective This study aimed to evaluate the predictive ac...
Elham Ghadirkhomi, Arezu Norouzi· International Journal of Rep...· 0 citations
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