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  1. Article ; Online: A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing.

    Hui, Lisa / Halliday, Jane

    The Australian & New Zealand journal of obstetrics & gynaecology

    2022  

    Abstract: Prenatal screening for aneuploidy has undergone immense changes over the past two decades. In 2013 cell-free DNA-based non-invasive prenatal testing (NIPT) became a new self-funded option primarily for Down syndrome screening, but also other aneuploidies ...

    Abstract Prenatal screening for aneuploidy has undergone immense changes over the past two decades. In 2013 cell-free DNA-based non-invasive prenatal testing (NIPT) became a new self-funded option primarily for Down syndrome screening, but also other aneuploidies and genetic conditions. The numbers of Medicare item claims for prenatal diagnostic procedures have halved since the introduction of NIPT, while billings for serum screening fell by 40% over the same period, on a background of steady births. Australia is now observing historically low rates of prenatal diagnostic testing. These data provide an informative snapshot of historic changes in prenatal screening and diagnosis, as our sector prepares for the impending impacts of other advances in genomics on maternity care. They also highlight the need to address equity and quality issues that arise when consumers must bear the full costs of improved genomic tests in the absence of Medicare funding.
    Language English
    Publishing date 2022-12-18
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 390815-x
    ISSN 1479-828X ; 0004-8666
    ISSN (online) 1479-828X
    ISSN 0004-8666
    DOI 10.1111/ajo.13638
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  2. Article ; Online: Psychological consequences of a diagnosis of infertility in men: a systematic analysis.

    Biggs, Sarah N / Halliday, Jane / Hammarberg, Karin

    Asian journal of andrology

    2023  

    Abstract: Almost half of infertility cases involve male infertility. Understanding the consequence of a diagnosis of male infertility, as a sole or partial contributor to the couples' infertility, to the mental health of men is required to ensure clinical care ... ...

    Abstract Almost half of infertility cases involve male infertility. Understanding the consequence of a diagnosis of male infertility, as a sole or partial contributor to the couples' infertility, to the mental health of men is required to ensure clinical care meets their psychological needs. The aim of this systematic analysis was to synthesize the evidence regarding whether men diagnosed with male factor infertility experience greater psychological distress than (1) men described as fertile and (2) men in couples with other infertility diagnoses. Online databases were searched using a combination of Medical Subject Headings (MeSH) headings and keywords relating to male infertility and psychological distress. The search yielded 1016 unique publications, of which 23 were included: 8 case-control, 14 prospective cohort, and 1 data linkage studies. Seven aspects of psychological distress were identified depression, anxiety, self-esteem, quality of life, fertility-related stress, general psychological stress or well-being, and psychiatric conditions. Case-control studies reported that men with male factor infertility have more symptoms of depression, anxiety and general psychological distress, worse quality of some aspects of life, and lower self-esteem than controls. When men with male factor infertility were compared to men in couples with other causes of infertility, there were few differences in the assessed aspects of psychological distress. Despite methodological limitations within the studies, this systematic analysis suggests that the experience of infertility, irrespective of its cause, negatively affects men's mental health and demonstrates the need for assisted reproduction technology (ART) providers to consider men undergoing assisted reproduction as individuals with their own unique support needs.
    Language English
    Publishing date 2023-08-22
    Publishing country China
    Document type Journal Article
    ZDB-ID 2075824-8
    ISSN 1745-7262 ; 1008-682X
    ISSN (online) 1745-7262
    ISSN 1008-682X
    DOI 10.4103/aja202334
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  3. Article ; Online: Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies.

    Pynaker, Cecilia / Norris, Fiona / Hui, Lisa / Halliday, Jane

    Prenatal diagnosis

    2023  Volume 43, Issue 4, Page(s) 516–526

    Abstract: Objective: To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of uncertain significance (VUS); and to characterize these variants in terms of testing indication, genomic location, size, and ... ...

    Abstract Objective: To determine the perinatal outcomes of fetuses diagnosed with a pathogenic copy number variant (CNV) or variant of uncertain significance (VUS); and to characterize these variants in terms of testing indication, genomic location, size, and inheritance.
    Methods: Retrospective study of singleton pregnancies with a pathogenic CNV or VUS from a single laboratory during 2012-2018. Probabilistic record linkage between the prenatal diagnosis dataset and perinatal outcome data for births from 20 weeks gestation was performed. If no birth record was found, this implied a pregnancy loss <20 weeks.
    Results: We included 6945 prenatal microarray results; a pathogenic CNV was detected in 230 (3.3%, 95% CI: 2.9%-3.8%) and a VUS in 483 (7.0%, 95% CI: 6.4%-7.6%). Of pregnancies with a pathogenic CNV, 20.0% (95% CI: 15.3%-25.6%) had a live birth, 3.0% (95% CI: 1.5%-6.2%) had a perinatal death (stillbirth or neonatal death), and 77% (95% CI: 71.1%-81.9%) had no birth record. Of those with a VUS, 64.4% (95% CI: 60.0%-68.5%) had a live birth, 1.8% (95% CI: 1.0%-3.5%) had a perinatal death, and no birth record was found for 33.7% (95% CI: 29.7%-38.1%). Most pathogenic CNVs (61.1%) were <7 Mb in size. The most common microdeletion syndromes were DiGeorge, Wolf-Hirschhorn, and Cri-du-chat syndromes.
    Conclusion: This study provides an overview of perinatal outcomes and frequency of recurrent CNVs observed in the prenatal microarray era.
    MeSH term(s) Pregnancy ; Humans ; Female ; Perinatal Death ; Retrospective Studies ; DNA Copy Number Variations ; Fetus ; Genomics
    Language English
    Publishing date 2023-01-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6305
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  4. Article ; Online: Stereotactic Radiosurgery and Radiotherapy for Vestibular Schwannoma in NF2-Related Schwannomatosis.

    Shrivastava, Manu / Emmanouil, Beatrice / Mathew, Rajeev / Halliday, Dorothy / Parry, Allyson / Halliday, Jane / Mackeith, Samuel

    The Laryngoscope

    2023  Volume 134, Issue 5, Page(s) 2364–2371

    Abstract: Objectives: To determine the long-term control rates and hearing outcomes for growing vestibular schwannoma in NF2-related schwannomatosis (NF2) treated with stereotactic radiosurgery (SRS) and fractionated radiotherapy (FRT).: Methods: Retrospective ...

    Abstract Objectives: To determine the long-term control rates and hearing outcomes for growing vestibular schwannoma in NF2-related schwannomatosis (NF2) treated with stereotactic radiosurgery (SRS) and fractionated radiotherapy (FRT).
    Methods: Retrospective review of all patients treated with SRS/FRT between 1986 and2021 from a tertiary NF2 unit. Overall tumor control was defined as: (1) growth control (growth failure was defined as growth in any dimension of 3 millimetres or more from baseline post-SRS/FRT), and (2) treatment control (no need for further intervention). Loss of serviceable hearing was defined as a drop in speech discrimination score below 50% after SRS/FRT.
    Results: There were 81 cases, with a mean duration of follow-up of 125 months. Overall control rate was 72% (58/81), with 80% (65/81) growth control and 74% (60/81) treatment control. There was a 5-year actuarial survival of 77% and 10-year survival of 71%. Forty-three percent (30/69) of cases did not have serviceable hearing at baseline. Of those remaining, 49% (19/39) preserved serviceable hearing during follow-up at a mean of 106 months. Actuarial survival for preservation of serviceable hearing at 5 and 10 years was 69% and 53%. There were poorer outcomes with increasing genetic severity, and with baseline tumor size >3 cm. No cases of SRS/FRT-related malignancy were identified at a mean follow-up of 10 years.
    Conclusion: Stereotactic radiosurgery/fractionated radiotherapy are an effective option to treat growing vestibular schwannoma in patients with NF2 with the potential for hearing preservation in a proportion of patients.
    Level of evidence: 4-Case Series Laryngoscope, 134:2364-2371, 2024.
    MeSH term(s) Humans ; Follow-Up Studies ; Neurilemmoma ; Neurofibromatoses/surgery ; Neuroma, Acoustic/radiotherapy ; Neuroma, Acoustic/surgery ; Radiosurgery/adverse effects ; Retrospective Studies ; Skin Neoplasms/surgery ; Treatment Outcome
    Language English
    Publishing date 2023-11-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 80180-x
    ISSN 1531-4995 ; 0023-852X
    ISSN (online) 1531-4995
    ISSN 0023-852X
    DOI 10.1002/lary.31180
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    Ul II Zs.82: Show issues Location:
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  5. Article ; Online: State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions.

    Loughry, Lulu / Pynaker, Cecilia / White, Mary / Halliday, Jane / Hui, Lisa

    Prenatal diagnosis

    2022  Volume 43, Issue 2, Page(s) 156–161

    Abstract: Background: To analyze population-based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non-invasive prenatal testing (NIPT).: Methods: Retrospective state-wide data for all prenatal diagnoses performed < ... ...

    Abstract Background: To analyze population-based trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) since the availability of non-invasive prenatal testing (NIPT).
    Methods: Retrospective state-wide data for all prenatal diagnoses performed <25 weeks gestation from 2005 to 2020 in Victoria, Australia. Non-invasive prenatal testing became locally available from 2012. The prenatal diagnosis rates of SCA as proportions of all prenatal diagnostic tests and all births were calculated. Statistical significance was assessed with the χ
    Results: 46,518 amniocentesis and chorionic villus sampling were performed during the study period, detecting 617 SCAs. There was a significant increase in the rate of prenatal SCAs from 5.8 per 10,000 births in 2005 to 8.7 per 10,000 births in 2020 (p < 0.0001). This increase was predominantly due to 47,XXY cases, 91% of which were ascertained via positive NIPT for this condition in 2020. The prenatal diagnosis rate of 47,XXY significantly increased from 0.8 per 10,000 births in 2005 to 4.3 per 10,000 births in 2020 (p < 0.0001).
    Conclusion: Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population-wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.
    MeSH term(s) Pregnancy ; Child ; Female ; Humans ; Amniocentesis ; Klinefelter Syndrome/diagnosis ; Klinefelter Syndrome/epidemiology ; Klinefelter Syndrome/genetics ; Retrospective Studies ; Chorionic Villi ; Prenatal Diagnosis ; Chromosome Disorders/diagnosis ; Sex Chromosome Aberrations ; Chorionic Villi Sampling ; Victoria/epidemiology ; Sex Chromosomes ; Aneuploidy
    Language English
    Publishing date 2022-01-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.6103
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  6. Article ; Online: A new technique of endoscopic decompression of suprasellar craniopharyngioma cyst.

    Halliday, Jane / Cudlip, Simon

    Acta neurochirurgica

    2019  Volume 161, Issue 11, Page(s) 2285–2288

    Abstract: Introduction: Craniopharyngiomas represent a unique management challenge. Aggressive surgical management has traditionally been associated with high rates of morbidity. Modern surgical techniques, and increasing practice of subtotal resection followed ... ...

    Abstract Introduction: Craniopharyngiomas represent a unique management challenge. Aggressive surgical management has traditionally been associated with high rates of morbidity. Modern surgical techniques, and increasing practice of subtotal resection followed by radiosurgery, have reduced morbidity and mortality rates. One cause of postoperative morbidity, and indeed mortality, is aseptic meningitis from spill-out of craniopharyngioma cyst contents. We have developed a surgical technique for the management of large craniopharygngioma cysts extending into the third ventricle, to reduce this risk.
    Methods: We describe a technique of using an epidural catheter, inserted into the working channel of a neuroendoscope, to decompress the cystic portion of a craniopharyngioma cyst before opening the cyst wall widely, preventing spill-out of large volumes of cyst content into the ventricular system.
    Results: We have had no cases of aseptic meningitis, nor any complications, from use of the described technique.
    Discussion: We believe that this is a safe and effective technique of decompression and fenestration of large suprasellar craniopharyngioma cysts that reduces rates of aseptic meningitis and the associated morbidity and mortality from this.
    MeSH term(s) Central Nervous System Cysts/surgery ; Craniopharyngioma/surgery ; Decompression, Surgical/methods ; Endoscopy/methods ; Female ; Humans ; Male ; Pituitary Neoplasms/surgery ; Third Ventricle/surgery
    Language English
    Publishing date 2019-08-04
    Publishing country Austria
    Document type Journal Article
    ZDB-ID 80010-7
    ISSN 0942-0940 ; 0001-6268
    ISSN (online) 0942-0940
    ISSN 0001-6268
    DOI 10.1007/s00701-019-04024-x
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  7. Article ; Online: Pooling and patient satisfaction in non-instrumented lumbar decompressive surgery.

    Halliday, Jane / Holsgrove, Daniel

    British journal of neurosurgery

    2018  Volume 33, Issue 1, Page(s) 8–11

    Abstract: Objectives: To determine the effect of pooling of patients for elective non-instrumented lumbar decompression on patient satisfaction and waiting times.: Materials and methods: We performed a retrospective review of Spine Tango and Theatre Databases ... ...

    Abstract Objectives: To determine the effect of pooling of patients for elective non-instrumented lumbar decompression on patient satisfaction and waiting times.
    Materials and methods: We performed a retrospective review of Spine Tango and Theatre Databases of our Neurosurgical unit for patients who underwent elective primary non-instrumented lumbar decompression between January 2012 and 2016. Patient satisfaction scores at 3 and 12 months post-surgery were collected from the Spine Tango Registry, and patients categorised as pooled/non-pooled by searching theatre databases to determine their named listing and operating consultants. Results were analysed numerically and by performing chi-squared testing to determine if pooling affected patient satisfaction. Theatre records were analysed between January 2004-2006, January 2009-2011 and 2014-2016 to determine what effect implementation of the 18-week wait target system (2009) and of our pooled system (2012) had on waiting times to operation for patients undergoing elective primary non-instrumented lumbar decompression.
    Results: There is no significant difference in patient satisfaction levels between pooled and non-pooled patients at 3 (p = .052) and 12 months (p = .5) post primary elective lumbar decompression (significance p < .05). There was no difference in average waiting time between the pooled and non-pooled groups. Both setting of 18-week targets and pooling improved waiting times. Setting of 18-week targets affected average waiting times markedly while pooling most notably reduced the variability in waiting times between patients for the same procedure.
    Conclusions: Pooling of patients for elective non-instrumented lumbar decompression in our unit has improved waiting times, particularly the variability in them, with no detriment to patient satisfaction. We would recommend other units to consider developing a system of pooling such as ours, to help maximise use of their current resources and avoid highly variable waiting times for patients for the same procedure within the same department.
    MeSH term(s) Adult ; Aged ; Databases, Factual ; Decompression, Surgical/psychology ; Decompression, Surgical/statistics & numerical data ; Elective Surgical Procedures/psychology ; Elective Surgical Procedures/statistics & numerical data ; Female ; Humans ; Lumbar Vertebrae/surgery ; Male ; Middle Aged ; Neurosurgical Procedures/psychology ; Neurosurgical Procedures/statistics & numerical data ; Patient Satisfaction ; Procedures and Techniques Utilization ; Registries ; Retrospective Studies ; Time-to-Treatment/statistics & numerical data ; Waiting Lists
    Language English
    Publishing date 2018-11-19
    Publishing country England
    Document type Journal Article ; Video-Audio Media
    ZDB-ID 639029-8
    ISSN 1360-046X ; 0268-8697
    ISSN (online) 1360-046X
    ISSN 0268-8697
    DOI 10.1080/02688697.2018.1527014
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  8. Article ; Online: Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review.

    Hui, Lisa / Szepe, Emma / Halliday, Jane / Lewis, Celine

    Prenatal diagnosis

    2020  Volume 40, Issue 6, Page(s) 652–660

    Abstract: The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages ... ...

    Abstract The field of prenatal screening and diagnosis for fetal anomalies has been marked by a rapid succession of technological advances, including most notably, chromosomal microarray analysis, and next generation sequencing. Despite the diagnostic advantages of these technologies, their incorporation into prenatal testing has created additional challenges of revealing genomic variants of unknown or uncertain significance, and secondary findings. While detailed posttest counseling about uncertain variants is best performed by medical geneticists, many of the screening and diagnostic tests that lead to this information are actually ordered by general maternity health care professionals (HCPs), such as obstetricians, midwives, and family physicians. Maternity HCPs support pregnant women through to the conclusion of their pregnancy and the postpartum period, and thus are close observers of the psychosocial impart of fetal genomic uncertainty on women and their families. While there have been many studies exploring the handling of genomic uncertainty by genetics HCPs, there has been relatively less attention paid to maternity HCPs without speciality training in genetics. This review explores the current literature surrounding nongenetic maternity HCPs' views and experiences of genomic uncertainty and returning uncertain results in the prenatal setting.
    MeSH term(s) Attitude of Health Personnel ; Female ; Genomics ; High-Throughput Nucleotide Sequencing ; Humans ; Microarray Analysis ; Midwifery ; Obstetrics ; Physicians ; Physicians, Family ; Pregnancy ; Prenatal Diagnosis ; Uncertainty ; Whole Genome Sequencing
    Language English
    Publishing date 2020-04-20
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.5673
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  9. Article ; Online: Principles of Genomic Newborn Screening Programs: A Systematic Review.

    Downie, Lilian / Halliday, Jane / Lewis, Sharon / Amor, David J

    JAMA network open

    2021  Volume 4, Issue 7, Page(s) e2114336

    Abstract: Importance: Genomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial.: Objectives: To identify what has been discovered ... ...

    Abstract Importance: Genomic newborn screening (gNBS) may optimize the health and well-being of children and families. Screening programs are required to be evidence based, acceptable, and beneficial.
    Objectives: To identify what has been discovered following the reporting of the first gNBS pilot projects and to provide a summary of key points for the design of gNBS.
    Evidence review: A systematic literature review was performed on April 14, 2021, identifying 36 articles that addressed the following questions: (1) what is the interest in and what would be the uptake of gNBS? (2) what diseases and genes should be included? (3) what is the validity and utility of gNBS? and (4) what are the ethical, legal, and social implications? Articles were only included if they generated new evidence; all opinion pieces were excluded.
    Findings: In the 36 articles included, there was high concordance, except for gene disease inclusion, which was highly variable. Key findings were the need for equitable access, appropriate educational materials, and informed and flexible consent. The process for selecting genes for testing should be transparent and reflect that parents value the certainty of prediction over actionability. Data should be analyzed in a way that minimizes uncertainty and incidental findings. The expansion of traditional newborn screening (tNBS) to identify more life-threatening and treatable diseases needs to be balanced against the complexity of consenting parents of newborns for genomic testing as well as the risk that overall uptake of tNBS may decline. The literature reflected that the right of a child to self-determination should be valued more than the possibility of the whole family benefiting from a newborn genomic test.
    Conclusions and relevance: The findings of this systematic review suggest that implementing gNBS will require a nuanced approach. There are gaps in our knowledge, such as the views of diverse populations, the capabilities of health systems, and health economic implications. It will be essential to rigorously evaluate outcomes and ensure programs can evolve to maximize benefit.
    MeSH term(s) Genetic Testing/methods ; Genetic Testing/trends ; Humans ; Infant, Newborn ; Neonatal Screening/methods ; Program Development/methods
    Language English
    Publishing date 2021-07-01
    Publishing country United States
    Document type Journal Article ; Systematic Review
    ISSN 2574-3805
    ISSN (online) 2574-3805
    DOI 10.1001/jamanetworkopen.2021.14336
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  10. Article ; Online: Associations between low-moderate prenatal alcohol exposure and brain development in childhood.

    Thompson, Deanne K / Kelly, Claire E / Dhollander, Thijs / Muggli, Evelyne / Hearps, Stephen / Lewis, Sharon / Nguyen, Thi-Nhu-Ngoc / Spittle, Alicia / Elliott, Elizabeth J / Penington, Anthony / Halliday, Jane / Anderson, Peter J

    NeuroImage. Clinical

    2024  Volume 42, Page(s) 103595

    Abstract: Background: The effects of low-moderate prenatal alcohol exposure (PAE) on brain development have been infrequently studied.: Aim: To compare cortical and white matter structure between children aged 6 to 8 years with low-moderate PAE in trimester 1 ... ...

    Abstract Background: The effects of low-moderate prenatal alcohol exposure (PAE) on brain development have been infrequently studied.
    Aim: To compare cortical and white matter structure between children aged 6 to 8 years with low-moderate PAE in trimester 1 only, low-moderate PAE throughout gestation, or no PAE.
    Methods: Women reported quantity and frequency of alcohol consumption before and during pregnancy. Magnetic resonance imaging was undertaken for 143 children aged 6 to 8 years with PAE during trimester 1 only (n = 44), PAE throughout gestation (n = 58), and no PAE (n = 41). T
    Results: After adjustments, the right caudal anterior cingulate cortex volume (p
    Conclusion: This study reports a relationship between low-moderate PAE throughout gestation and cingulate cortex and cingulum tract alterations, suggesting a teratogenic vulnerability. Further investigation is warranted.
    Language English
    Publishing date 2024-03-21
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2701571-3
    ISSN 2213-1582 ; 2213-1582
    ISSN (online) 2213-1582
    ISSN 2213-1582
    DOI 10.1016/j.nicl.2024.103595
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