A Systematized review of experiences of individuals in Arnett’s emerging adulthood stage who live with or are at‐risk for genetic conditions
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1238
Abstract: Emerging adulthood, a distinct developmental period between ages 18 and 29 years, comprises five features: identity exploration, experimentation/possibilities, negativity/instability regarding one's outlook, self‐focus, and feeling in‐between adolescence and adulthood. A growing literature examines the impact… read more here.
Keywords: risk genetic; emerging adulthood; review; adulthood ... See more keywords
The experiences of adolescent siblings of children with rare genetic conditions: “It's made me who I am”
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1636
Abstract: Childhood genetic conditions impact not only the child who is diagnosed but also the day‐to‐day lives of all members of a family. However, our understanding of the perspectives and needs of unaffected adolescents in families… read more here.
Keywords: adolescent siblings; children rare; genetic conditions; experiences adolescent ... See more keywords
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00962-2
Abstract: Despite no consensus on the definition of ‘seriousness’, the concept is regularly used in policy and practice contexts to categorise conditions, determine access to genetic technologies and uses of selective pregnancy termination. Whilst attempts have… read more here.
Keywords: living genetic; genetic condition; condition; people living ... 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
How should severity be understood in the context of reproductive genetic carrier screening?
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DOI: 10.1111/bioe.13136
Abstract: Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic conditions is an important criterion for their inclusion in carrier screening programmes. However, the concept of… read more here.
Keywords: genetic carrier; carrier screening; reproductive genetic; severity ... See more keywords
Writing the worlds of genomic medicine: experiences of using participatory-writing to understand life with rare conditions
Sign Up to like & getrecommendations! Published in 2022 at "Medical Humanities"
DOI: 10.1136/medhum-2021-012346
Abstract: The diagnostic and treatment possibilities made possible by the development and subsequent mainstreaming of clinical genomics services have the potential to profoundly change the experiences of families affected by rare genetic conditions. Understanding the potentials… read more here.
Keywords: participatory writing; genomic medicine; participatory; life ... See more keywords
The current state of prenatal detection of genetic conditions in congenital heart defects.
Sign Up to like & getrecommendations! Published in 2021 at "Translational pediatrics"
DOI: 10.21037/tp-20-315
Abstract: The incidence of congenital heart defect (CHD) has increased over the past fifty years, partly attributed to routine fetal anatomical examination by sonography during obstetric care and improvements in ultrasound technology and technique. Fetal findings… read more here.
Keywords: genetic conditions; current state; state prenatal; congenital heart ... See more keywords
Genetic conditions of short stature: A review of three classic examples
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.1011960
Abstract: Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins,… read more here.
Keywords: review; stature; short stature; health care ... See more keywords
Prenatal diagnosis of rare genetic conditions at a tertiary care hospital in Karachi.
Sign Up to like & getrecommendations! Published in 2020 at "JPMA. The Journal of the Pakistan Medical Association"
DOI: 10.5455/jpma.11601
Abstract: This study aims to observe the spectrum of Prenatal Diagnosis of Rare Genetic conditions at a Tertiary care hospital in Karachi. This is a retrospective review conducted at the Aga Khan University Hospital, Karachi from… read more here.
Keywords: diagnosis rare; prenatal diagnosis; hospital karachi; genetic conditions ... See more keywords