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.
The findings highlight barriers to SOC genetic evaluation and underscore the need to strengthen institutional protocols, enhance provider education, and develop stillbirth-specific genetic counseling guidelines.
Hector Marin, Michelle E. Florido, Carina Bertolini et al.· Journal of Genetic Counselin...· 0 citations
It is suggested that the type of first-trimester ultrasound abnormality is associated with prenatal test selection, and the importance of individualized genetic counseling when discussing prenatal testing options and residual uncertainty following abnormal ultrasound findings is highlighted.
Koutarou Doi, Masatoshi Yamaguchi, Minayo Iwai et al.· Journal of Genetic Counselin...· 0 citations
NIPT 2.0 can serve as a prenatal screening method following PGT-assisted pregnancies and whether it can replace invasive prenatal testing requires further in-depth research.
Hong-Wei Yan, Yun Wang, Ming-Jia Zhao et al.· Frontiers in Medicine· 0 citations
Although international guidelines show broad agreement regarding the importance of prenatal screening and confirmatory diagnostic testing, differences persist in the implementation of screening strategies and the integration of emerging genomic technologies.
Geovanna Saboia Veras, J. Bennini· International journal of gyn...· 1 citation
WES emerged as the most effective diagnostic tool in this cohort of pediatric patients in a tertiary care hospital in Nepal, with neurodevelopmental disorders and congenital anomalies as the leading indications.
Surabhi Aryal, Luna Bajracharya, D. Poudel et al.· Journal of Nepal Health Rese...· 0 citations
The findings suggest that a more appropriate clinical approach involves the integrated use of multiple screening tools combined with genetic counseling and clear communication for prenatal care, as well as using validated noninvasive methods such as non-invasive prenatal testing before amniocentesis, thus rationally su...
Elham Ghadirkhomi, Arezu Norouzi· International Journal of Rep...· 0 citations
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