Search Results - "Archibald, Alison D."

Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening by Scarff, Katrina L., Flowers, Nicola, Love, Clare J., Archibald, Alison D., Hunt, Clare E., Giouzeppos, Olivia, Elliott, Justine, Delatycki, Martin B., Pertile, Mark D.

“…Objectives To evaluate the performance of cell‐free DNA (cfDNA) screening for common fetal aneuploidies, choice of prenatal procedure, and chromosome…”
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Australian public perspectives on genomic newborn screening: which conditions should be included? by Lynch, Fiona, Best, Stephanie, Gaff, Clara, Downie, Lilian, Archibald, Alison D, Gyngell, Christopher, Goranitis, Ilias, Peters, Riccarda, Savulescu, Julian, Lunke, Sebastian, Stark, Zornitza, Vears, Danya F

“…Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to…”
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Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation by Lynch, Fiona, Best, Stephanie, Gaff, Clara, Downie, Lilian, Archibald, Alison D, Gyngell, Christopher, Goranitis, Ilias, Peters, Riccarda, Savulescu, Julian, Lunke, Sebastian, Stark, Zornitza, Vears, Danya F

“…Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as…”
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Scaling-up and future sustainability of a national reproductive genetic carrier screening program by Fehlberg, Zoe, Best, Stephanie, Long, Janet C., Theodorou, Tahlia, Pope, Catherine, Hibbert, Peter, Williams, Sharon, Freeman, Lucinda, Righetti, Sarah, Archibald, Alison D., Braithwaite, Jeffrey

“…An understanding of factors influencing implementation is essential to realise the benefits of population-based reproductive genetic carrier screening…”
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Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners by Delatycki, Martin B, Laing, Nigel G, Moore, Sarah J, Emery, Jon, Archibald, Alison D, Massie, John, Kirk, Edwin P

“…General practitioners (GPs) provide advice to women and couples before and during pregnancy to optimise the health and wellbeing of couples and their child…”
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How should severity be understood in the context of reproductive genetic carrier screening? by Dive, Lisa, Archibald, Alison D., Freeman, Lucinda, Newson, Ainsley J.

“…Reproductive genetic carrier screening provides information about people's chance of having children with certain genetic conditions. Severity of genetic…”
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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework by Tutty, Erin, Archibald, Alison D, Downie, Lilian, Gaff, Clara, Lunke, Sebastian, Vears, Danya F, Stark, Zornitza, Best, Stephanie

“…Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase the…”
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Gene selection for genomic newborn screening: Moving toward consensus? by Downie, Lilian, Bouffler, Sophie E., Amor, David J., Christodoulou, John, Yeung, Alison, Horton, Ari E., Macciocca, Ivan, Archibald, Alison D., Wall, Meghan, Caruana, Jade, Lunke, Sebastian, Stark, Zornitza

“…Gene selection for genomic newborn screening (gNBS) underpins the validity, acceptability, and ethical application of this technology. Existing gNBS gene lists…”
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Development and use of the Australian reproductive genetic carrier screening decision aid by King, Emily, Halliday, Jane, Archibald, Alison D, Delatycki, Martin, Barlow-Stewart, Kristine, Newson, Ainsley J, McClaren, Belinda J

“…Reproductive genetic carrier screening (RGCS) may be offered to all individuals and couples, regardless of family history or ethnicity. "Mackenzie's Mission"…”
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Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized” by Lewit‐Mendes, Miranda F., Robson, Hazel, Kelley, Joanne, Elliott, Justine, Brown, Erica, Menezes, Melody, Archibald, Alison D.

“…Many non‐invasive prenatal testing (NIPT) platforms screen for sex chromosome aneuploidy (SCA) and SCA analysis is generally included in Australia where NIPT…”
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A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy by Lawton, Sally, Hickerton, Chriselle, Archibald, Alison D, McClaren, Belinda J, Metcalfe, Sylvia A

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with a carrier frequency of 1 in 41 in Australia. Childhood SMA is classified…”
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Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis by Valente, Giulia M., Amor, David J., Ioannou, Liane J., Archibald, Alison D.

“…Background Cystic fibrosis (CF) carrier screening should be offered to people planning a pregnancy or in early pregnancy, according to current recommendations…”
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Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition by Thomas, Lauren A., Lewis, Sharon, Massie, John, Kirk, Edwin P., Archibald, Alison D., Barlow-Stewart, Kristine, Boardman, Felicity K., Halliday, Jane, McClaren, Belinda, Delatycki, Martin B.

“…Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions…”
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Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al by Righetti, Sarah, Dive, Lisa, Archibald, Alison D., Freeman, Lucinda, McClaren, Belinda, Kanga-Parabia, Anaita, Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P., Newson, Ainsley J., Barlow-Stewart, Kristine, Best, Stephanie, Boggs, Kirsten, Ebzery, Camron, Edwards, Samantha, Fehlberg, Zoe, Fitzgerald, Lara, Halliday, Jane, Harrison, Katrina, Kennedy, Jillian, Long, Janet, Massie, John, Tutty, Erin, Allcock, Richard, Caruana, Jade, Casella, Rachael, Davis, Mark, Hardy, Tristan, Jelenich, Sarah, Lunke, Sebastian, McGaughran, Julie, Ravenscroft, Gina

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"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result by Wilkins, Ella J., Archibald, Alison D., Sahhar, Margaret A., White, Susan M.

“…Chromosomal microarray is an increasingly utilized diagnostic test, particularly in the pediatric setting. However, the clinical significance of copy number…”
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"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia by Beard, Catherine A., Amor, David J., Di Pietro, Louisa, Archibald, Alison D.

“…Advancing genetic testing technologies mean that population‐based carrier screening for multiple inherited conditions is now available. As the number of…”
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Fragile X population carrier screening by Metcalfe, Sylvia A, Delatycki, Martin B, Cohen, Jonathan, Archibald, Alison D, Emery, Jon D

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts by Kraan, Claudine M., Bui, Quang M., Field, Mike, Archibald, Alison D., Metcalfe, Sylvia A., Christie, Louise M., Bennetts, Bruce H., Oertel, Ralph, Smith, Melanie J., du Sart, Desiree, Bruno, Damien, Wotton, Tiffany L., Amor, David J., Francis, David, Godler, David E.

“…Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However,…”
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Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers by Kraan, Claudine M., Hocking, Darren R., Georgiou-Karistianis, Nellie, Metcalfe, Sylvia A., Archibald, Alison D., Fielding, Joanne, Trollor, Julian, Bradshaw, John L., Cohen, Jonathan, Cornish, Kim M.

“…Fragile X Mental Retardation 1 (FMR1) premutation carriers (PM‐carriers) have a defective trinucleotide expansion on the FMR1 gene that is associated with…”
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Paternal retraction of a fragile X allele to normal size, showing normal function over two generations by Bartlett, Essra, Archibald, Alison D., Francis, David, Ling, Ling, Thomas, Rob, Chandler, Gabrielle, Ward, Lisa, O'Farrell, Gemma, Pandelache, Alison, Delatycki, Martin B., Bennetts, Bruce H., Ho, Gladys, Fisk, Katrina, Baker, Emma K., Amor, David J., Godler, David E.

“…The FMR1 premutation (PM:55‐199 CGG) is associated with fragile X‐associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of…”
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