Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1549
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with usually typical cognition. The first disease‐modifying therapy for SMA, nusinersen, was approved by the United States Food and… read more here.
Keywords: spinal muscular; muscular atrophy; sma; genetic counseling ... See more keywords
Reproductive deliberation: Supporting autonomous decision making in prenatal genetic counseling.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1682
Abstract: As both the scope and popularity of non-invasive prenatal testing (NIPT) have expanded, debate has emerged about the extent to which this test enhances or undermines reproductive autonomy. Genetic counseling is crucial to support autonomy… read more here.
Keywords: counseling; reproductive deliberation; decision making; genetic counseling ... See more keywords
Disparities in the acceptance of chromosomal microarray at the time of prenatal genetic diagnosis.
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal diagnosis"
DOI: 10.1002/pd.6109
Abstract: OBJECTIVE Chromosomal microarray (CMA) increases the diagnostic yield of prenatal genetic diagnostic testing but is not universally performed. Our objective was to identify provider and patient characteristics associated with the acceptance of CMA at the… read more here.
Keywords: time prenatal; prenatal genetic; cma; chromosomal microarray ... See more keywords
Prenatal Genetic Testing Options.
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric clinics of North America"
DOI: 10.1016/j.pcl.2018.12.016
Abstract: All patients should be offered prenatal screening and diagnosis. Testing options depend on many factors, including patient age, family history, and patient preference. Options are rapidly changing with emerging technology. Aneuploidy screening options include ultrasound,… read more here.
Keywords: genetic testing; testing options; prenatal genetic;
What are the goals of prenatal genetic testing?
Sign Up to like & getrecommendations! Published in 2018 at "Seminars in perinatology"
DOI: 10.1053/j.semperi.2018.07.002
Abstract: The landscape of genetic testing and screening has changed tremendously since the initial description of the molecular structure of DNA. Given this, it is critical that providers reflect on the goals of prenatal screening and… read more here.
Keywords: genetic testing; goals prenatal; testing; prenatal genetic ... See more keywords
Laboratory considerations for prenatal genetic testing.
Sign Up to like & getrecommendations! Published in 2018 at "Seminars in perinatology"
DOI: 10.1053/j.semperi.2018.07.020
Abstract: New genetic tests have rapidly entered clinical care with little consistency in laboratory testing and reporting. Non-invasive prenatal screening using cell free DNA (cfDNA) may either screen for common aneuploidies alone or include chromosomal microdeletions.… read more here.
Keywords: genetic testing; prenatal genetic; laboratory considerations; laboratory ... See more keywords
Prenatal genetic testing 1: screening tests
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000001172
Abstract: Purpose of review Prenatal genetic testing can be divided into two categories: screening and diagnostic. This article will focus on reviewing prenatal genetic screening tests. Recent findings Cell-free DNA (cfDNA) is a new prenatal genetic… read more here.
Keywords: prenatal genetic; genetic conditions; genetic testing; screening tests ... See more keywords
Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio‐economic population
Sign Up to like & getrecommendations! Published in 2022 at "Australian and New Zealand Journal of Obstetrics and Gynaecology"
DOI: 10.1111/ajo.13522
Abstract: There are concerns about the capacity of healthcare providers to adequately counsel women on the implications of noninvasive prenatal screening (NIPS). Studies suggest that more resource‐efficient counselling methods are needed for broad adoption. read more here.
Keywords: effectiveness alternative; genetic counselling; methods cohort; counselling methods ... See more keywords
An isolated hypogonadotropic hypogonadism male with a novel de novoFGFR1 mutation fathered a normal son evidenced by prenatal genetic diagnosis
Sign Up to like & getrecommendations! Published in 2020 at "Andrologia"
DOI: 10.1111/and.13821
Abstract: Isolated hypogonadotropic hypogonadism (IHH) is a rare but treatable form of male infertility caused by congenital defect in gonadotropin‐releasing hormone (GnRH) secretion or action. We report a Chinese IHH male with a novel FGFR1 mutation… read more here.
Keywords: male; genetic diagnosis; prenatal genetic; son ... See more keywords
Experiences of Prenatal Genetic Screening and Diagnostic Testing Among Pregnant Korean Women of Advanced Maternal Age
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DOI: 10.1177/1043659616662913
Abstract: Purpose: This study explored the experiences of Korean women of advanced maternal age undergoing prenatal genetic screening and diagnostic testing. Design: A descriptive, qualitative design was used to guide the study. Method: Ten participants were… read more here.
Keywords: korean women; women advanced; advanced maternal; prenatal genetic ... See more keywords
Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-020-0472-y
Abstract: Background Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array), fluorescence in situ hybridization (FISH), and… read more here.
Keywords: pregnancy; analysis; prenatal genetic; sts analysis ... See more keywords