20 results on '"Jane Halliday"'
Search Results
2. Maternity health care professionals' views and experiences of fetal genomic uncertainty: A review
- Author
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Celine Lewis, Jane Halliday, Lisa Hui, and Emma Jane Szepe
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Attitude of Health Personnel ,Genetic counseling ,education ,Prenatal diagnosis ,030105 genetics & heredity ,Midwifery ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Physicians ,Prenatal Diagnosis ,Health care ,medicine ,Humans ,Uncertain significance ,Genetics (clinical) ,030219 obstetrics & reproductive medicine ,Whole Genome Sequencing ,business.industry ,Uncertainty ,High-Throughput Nucleotide Sequencing ,Physicians, Family ,Obstetrics and Gynecology ,Genomics ,Microarray Analysis ,medicine.disease ,Obstetrics ,Family medicine ,Medical genetics ,Female ,business ,Psychosocial ,Postpartum period - 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 post-test counselling 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. Whilst 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 non-genetic maternity HCPs' views and experiences of genomic uncertainty and returning uncertain results in the prenatal setting. This article is protected by copyright. All rights reserved.
- Published
- 2020
3. Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing
- Author
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A Poulton, Lisa Hui, Allanah Howard-Bath, and Jane Halliday
- Subjects
Adult ,0301 basic medicine ,medicine.medical_specialty ,Victoria ,Sex Chromosome Disorders of Sex Development ,Population ,Turner Syndrome ,Aneuploidy ,Chorionic villus sampling ,Trisomy ,Prenatal diagnosis ,030105 genetics & heredity ,Ultrasonography, Prenatal ,03 medical and health sciences ,Klinefelter Syndrome ,0302 clinical medicine ,Pregnancy ,Prenatal Diagnosis ,XYY Karyotype ,medicine ,Humans ,Advanced maternal age ,education ,Sex Chromosome Aberrations ,Genetics (clinical) ,Retrospective Studies ,Chromosomes, Human, X ,education.field_of_study ,030219 obstetrics & reproductive medicine ,medicine.diagnostic_test ,Mosaicism ,Obstetrics ,business.industry ,Obstetrics and Gynecology ,medicine.disease ,Chorionic Villi Sampling ,Cell-free fetal DNA ,Amniocentesis ,Female ,business - Abstract
OBJECTIVE: To assess the impact of non-invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births. METHOD: Retrospective population-based cohort study from 1986-2016 of all women undergoing prenatal diagnosis before 25 weeks gestation in the Australian state of Victoria. Statistical significance was tested using the chi-square test for trend or proportions. RESULTS: There were 2,043,345 births and 842 SCA diagnoses from 1986-2016. The percentage of prenatal diagnostic tests leading to a SCA diagnosis increased significantly from 0.95% in 2010 to 2.93% in 2016 (p
- Published
- 2018
4. Prenatal and preimplantation genetic diagnosis for single gene disorders: A population-based study from 1977 to 2016
- Author
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Sharon Lewis, Jane Halliday, A Poulton, and Lisa Hui
- Subjects
0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Databases, Factual ,Victoria ,Population ,Prenatal diagnosis ,Single gene ,030105 genetics & heredity ,Preimplantation genetic diagnosis ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Statistical significance ,Prenatal Diagnosis ,medicine ,Humans ,Genetic Testing ,education ,Genetics (clinical) ,Preimplantation Diagnosis ,Genetic testing ,Retrospective Studies ,education.field_of_study ,030219 obstetrics & reproductive medicine ,medicine.diagnostic_test ,business.industry ,Genetic Diseases, Inborn ,Obstetrics and Gynecology ,Retrospective cohort study ,medicine.disease ,Female ,business - Abstract
OBJECTIVE: To examine the statewide utilisation of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT-M) for single gene disorders. METHODS: Population-based study of all women utilising PNDx in the Australian state of Victoria from 1977 to 2016. Single gene disorders were categorised using a systematic approach that aimed to reflect aspects of the PNDx decision-making process. Data on PGT-M for single gene disorders from 2005 to 2016 were similarly examined for comparison. Statistical significance testing was performed with χ2 test. RESULTS: Following an initial uptake period, annual PNDx rates for single gene disorders stabilised between 1.3 and 2.2 per 1000 births after the year 2000. The majority of PNDx (72%) was performed for disorders that primarily impair physical ability, while PNDx for adult onset conditions was rare (3%). PGT-M for single gene disorders has seen rapid growth since its introduction, and annual numbers now equal that of PNDx. In contrast to PNDx, one quarter of PGT-M tests were performed for adult onset conditions. CONCLUSIONS: Our population-wide analysis has demonstrated a steady demand for PNDx for single gene disorders over the past decade, in contrast to the rapidly increasing utilisation of PGT-M. PGT-M appears to be the preferred testing modality for adult onset disorders.
- Published
- 2018
5. Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure
- Author
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Jane Halliday, Ingrid B. Sinnerbrink, Amanda Sherwen, Edwin P. Kirk, Elizabeth Evans, Felicity Rea, Elizabeth Waters, Bettina Meiser, David J. Amor, and Belinda Rahman
- Subjects
medicine.medical_specialty ,Pregnancy ,medicine.diagnostic_test ,business.industry ,media_common.quotation_subject ,Obstetrics and Gynecology ,Retrospective cohort study ,Prenatal diagnosis ,medicine.disease ,Mental health ,Clinical research ,medicine ,Anxiety ,medicine.symptom ,Worry ,Psychiatry ,business ,Genetics (clinical) ,Genetic testing ,media_common - Abstract
Objective This study aims to assess the impact of prenatal diagnosis of de novo apparently balanced chromosome rearrangements (ABCRs) on maternal stress, family functioning and maternal plans of disclosure of genetic information to their child. Methods All liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994–2003) were retrospectively ascertained. Of 39 eligible cases, 16 (41%) participated in the study. Mothers of these children completed a questionnaire using standardized measures to assess family functioning, parental distress, parent–child interaction and child characteristics, with open-ended questions regarding disclosure. Results The majority of mothers appeared to experience normal levels of parenting stress, quality of parent–child interaction and healthy family functioning. However, most mothers recalled experiencing a significant degree of worry at the time of receiving their prenatal test results, and some mothers (4/15) reported receiving uncertain or conflicting results. Most mothers (13/15) conveyed an understanding of the importance of disclosing this genetic information to their child, and 12/15 conveyed their intention to make this disclosure. Conclusion Most mothers reported normal parenting stress and family functioning, despite experiencing significant worry upon receiving results. Some children are at risk of nondisclosure of their carrier status. © 2014 John Wiley & Sons, Ltd.
- Published
- 2014
6. Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement
- Author
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Edwin P. Kirk, Elizabeth Waters, Jane Halliday, Belinda Rahman, Amanda Sherwen, Elizabeth Evans, Bettina Meiser, Ingrid B. Sinnerbrink, Felicity Rea, and David J. Amor
- Subjects
Pediatrics ,medicine.medical_specialty ,education.field_of_study ,Pregnancy ,business.industry ,Population ,MEDLINE ,Obstetrics and Gynecology ,Prenatal diagnosis ,Retrospective cohort study ,medicine.disease ,Mental health ,Child development ,Test (assessment) ,medicine ,education ,business ,Genetics (clinical) - Abstract
Objective This study aimed to determine if liveborn children with prenatally detected de novo apparently balanced chromosome rearrangements (ABCR) have more long-term health, developmental or behavioural concerns compared with children in a normal Australian population. Methods This was a retrospective ascertainment of all liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994–2003). Child health, development and behaviour were assessed by maternal report using standardised measures; educational ability and achievement were measured by direct child assessment. Data were compared with relevant population norms, and one sample t-test performed to test for statistical differences. Results Of 39 eligible cases, 16 (41%) participated in the study. One child (6%) was born with a congenital anomaly, and two children (12.5%) reported a chronic health concern. Compared with population norms, no significant differences were observed with respect to intelligence, mental health, child development and educational ability; children had significantly higher scores indicative of better functioning on bodily pain, social–emotional behaviour and physical functioning. No child satisfied the criteria for having a special health care need. Conclusion Children in this study with a prenatally detected de novo ABCR have similar long-term health, developmental and behavioural outcomes compared with population norms. © 2013 John Wiley & Sons, Ltd.
- Published
- 2013
7. How do prospective parents prefer to receive information about prenatal screening and diagnostic testing?
- Author
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Sian K Smith, Jane Halliday, Sharon Lewis, Amanda M. Willis, Cécile Muller, and Bettina Meiser
- Subjects
medicine.medical_specialty ,Truth Disclosure ,medicine.diagnostic_test ,business.industry ,Information seeking ,Obstetrics and Gynecology ,Diagnostic test ,Prenatal diagnosis ,Patient preference ,Prenatal screening ,Family medicine ,medicine ,Amniocentesis ,Health information ,business ,Genetics (clinical) - Abstract
What's already known about this topic? Women prefer to receive information about prenatal testing options face-to-face from a health professional.Increasing numbers of people are accessing health-related information online. What does this study add?In spite of increased online access of health information, both women and partners still prefer to receive information about prenatal testing options face-to-face.High rates of information seeking were observed among pregnant women and partners, despite seemingly high satisfaction with information provided.
- Published
- 2014
8. Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism
- Author
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Mark D. Pertile, Jane Halliday, David J. Amor, Wee Thong Neo, Elizabeth Waters, and Helen Heussler
- Subjects
Male ,medicine.medical_specialty ,Developmental Disabilities ,Health Status ,Placenta ,Chorionic villus sampling ,Prenatal diagnosis ,Congenital Abnormalities ,Cohort Studies ,Pregnancy ,Risk Factors ,Prenatal Diagnosis ,parasitic diseases ,Humans ,Medicine ,Child ,Confined placental mosaicism ,Genetics (clinical) ,Retrospective Studies ,Fetal Growth Retardation ,medicine.diagnostic_test ,Mosaicism ,business.industry ,Obstetrics ,Incidence ,Incidence (epidemiology) ,Pregnancy Outcome ,Obstetrics and Gynecology ,Retrospective cohort study ,medicine.disease ,Child, Preschool ,embryonic structures ,Cohort ,Female ,business ,human activities ,Cohort study - Abstract
Objective To determine the long-term health and development of a cohort of children in whom confined placental mosaicism (CPM) was diagnosed at prenatal diagnosis. Methods A retrospective cohort study was performed comparing 36 children in whom CPM had been diagnosed prenatally with 195 controls subjects in whom a normal karyotype had been detected prenatally. Data comprising birth information, health, health service utilisation, growth, development, behaviour, and the family were collected by a maternal questionnaire administered when the subjects were aged between 4 and 11 years. Results CPM cases did not differ from controls across a broad range of health measures and there were no major health problems or birth defects among the CPM group. No increase was detected in the incidence of intrauterine growth retardation (IUGR) among CPM cases; however, postnatal growth was reduced compared with controls (p = 0.047). Development and behaviour in CPM cases was similar to that of controls. Conclusions The prenatal diagnosis of CPM is not associated with an increased risk of birth defects or developmental problems, but may be associated with decreased growth. Copyright (C) 2006 John Wiley & Sons, Ltd.
- Published
- 2006
9. Prenatal diagnosis for women aged 37 years and over: to have or not to have
- Author
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Robin J. Bell, Rosemary Warren, Geraldine McDonald, Jane Halliday, Lyndsey Watson, and Pranee Liamputtong Rice
- Subjects
Adult ,Rural Population ,Pediatrics ,medicine.medical_specialty ,Urban Population ,Pregnancy, High-Risk ,Gestational Age ,Prenatal diagnosis ,Abortion ,Treatment Refusal ,Pregnancy ,Prenatal Diagnosis ,Surveys and Questionnaires ,Odds Ratio ,Humans ,Medicine ,Risk factor ,Genetics (clinical) ,Reference group ,Language ,Marital Status ,medicine.diagnostic_test ,business.industry ,Obstetrics ,Obstetrics and Gynecology ,Middle Aged ,Test (assessment) ,Logistic Models ,Prenatal screening ,Chorionic Villi Sampling ,Patient Satisfaction ,Amniocentesis ,Gestation ,Female ,business ,Maternal Age - Abstract
Forty percent of pregnant women aged 37 years and over do not have prenatal diagnosis despite being eligible for a free test. The present study aimed to determine how often, and which, untested women were making a choice about this, how many declined an offer and why. A questionnaire was given to untested women, aged 37 years and over, at no less than 24 weeks gestation. A total of 375 (81.5%) women declined, 72 (16%) were not offered a test and 13 presented too late antenatally. There was a three-fold increased likelihood (OR 3.10 95% CI 1.44, 6.65) of no offer for urban non-English speaking background women, compared with the reference group (metropolitan, English speaking). Unpartnered women were also significantly less likely to receive an offer (OR 3.18, 95% CI 1.19, 8.46). Risk to the baby was the main reason for declining. When offered non-invasive prenatal screening, most decliners of prenatal diagnosis accepted, even those who declined because they were opposed to abortion. We estimate that overall 33% of older pregnant women were being offered and declining amniocentesis and/or chorion villus sampling (CVS). Only 6% were not offered a test, but this small proportion is over-represented by minority groups who must be given equal opportunity to make this choice.
- Published
- 2001
10. Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure
- Author
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Ingrid B, Sinnerbrink, Bettina, Meiser, Jane, Halliday, Amanda, Sherwen, David J, Amor, Elizabeth, Waters, Felicity, Rea, Elizabeth, Evans, Belinda, Rahman, and Edwin P, Kirk
- Subjects
Adult ,Chromosome Aberrations ,Family Health ,Male ,Mothers ,Disclosure ,Intention ,Anxiety ,Pregnancy ,Child, Preschool ,Prenatal Diagnosis ,Humans ,Female ,Genetic Testing ,Parent-Child Relations ,Child ,Stress, Psychological ,Retrospective Studies - Abstract
This study aims to assess the impact of prenatal diagnosis of de novo apparently balanced chromosome rearrangements (ABCRs) on maternal stress, family functioning and maternal plans of disclosure of genetic information to their child.All liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994-2003) were retrospectively ascertained. Of 39 eligible cases, 16 (41%) participated in the study. Mothers of these children completed a questionnaire using standardized measures to assess family functioning, parental distress, parent-child interaction and child characteristics, with open-ended questions regarding disclosure.The majority of mothers appeared to experience normal levels of parenting stress, quality of parent-child interaction and healthy family functioning. However, most mothers recalled experiencing a significant degree of worry at the time of receiving their prenatal test results, and some mothers (4/15) reported receiving uncertain or conflicting results. Most mothers (13/15) conveyed an understanding of the importance of disclosing this genetic information to their child, and 12/15 conveyed their intention to make this disclosure.Most mothers reported normal parenting stress and family functioning, despite experiencing significant worry upon receiving results. Some children are at risk of nondisclosure of their carrier status.
- Published
- 2013
11. Fetal outcome and maternal morbidity after early amniocentesis
- Author
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C. Webley, Leslie J. Sheffield, Jane Halliday, and Veronica Collins
- Subjects
Gynecology ,medicine.medical_specialty ,education.field_of_study ,medicine.diagnostic_test ,business.industry ,Obstetrics ,Population ,Obstetrics and Gynecology ,Gestational age ,Abortion ,medicine.disease ,Cohort ,Amniocentesis ,Medicine ,Gestation ,business ,education ,Premature rupture of membranes ,Genetics (clinical) ,Cohort study - Abstract
We have studied a large population-based cohort of women who had amniocentesis at 14 weeks' gestation (early amniocentesis) in Victoria, a state of Australia, to determine fetal loss rates and maternal morbidity. This was done by linking two registers--one containing information on all prenatal diagnostic tests in the state, and the other a register of all births at or after 20 weeks' gestation. Almost complete follow-up was achieved. The spontaneous fetal loss rate was significantly higher for women of age 37 years and over having early amniocentesis (2.5 per cent), as compared with the fetal loss rate found previously on the same geographically defined population who had amniocentesis at about 16 weeks' gestational age (1.1 per cent). Three classes of maternal morbidity reported to the birth register (post 20 weeks' gestation) were also analysed. The most significant finding was a reduced rate of premature rupture of membranes with early amniocentesis when compared with a group having later amniocentesis, or the background population not having any amniocentesis. There was no significant increase in the occurrence of antepartum bleeding or genito-urinary tract infection for women having early amniocentesis. These data agree with other studies in showing that early amniocentesis is associated with a significant increased risk of fetal loss, as compared with later amniocentesis. In addition we have shown no significant increase in the occurrence of three indicators of maternal morbidity, reported at or after 20 weeks' gestation.
- Published
- 1998
12. Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement
- Author
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Ingrid B, Sinnerbrink, Amanda, Sherwen, Bettina, Meiser, Jane, Halliday, David J, Amor, Elizabeth, Waters, Felicity, Rea, Elizabeth, Evans, Belinda, Rahman, and Edwin P, Kirk
- Subjects
Adult ,Chromosome Aberrations ,Adolescent ,Infant, Newborn ,Pregnancy Outcome ,Translocation, Genetic ,Child Development ,Health ,Pregnancy ,Child, Preschool ,Prenatal Diagnosis ,Humans ,Female ,Child ,Retrospective Studies - Abstract
This study aimed to determine if liveborn children with prenatally detected de novo apparently balanced chromosome rearrangements (ABCR) have more long-term health, developmental or behavioural concerns compared with children in a normal Australian population.This was a retrospective ascertainment of all liveborn children with prenatally detected de novo ABCRs in two Australian states over a 10-year period (1994-2003). Child health, development and behaviour were assessed by maternal report using standardised measures; educational ability and achievement were measured by direct child assessment. Data were compared with relevant population norms, and one sample t-test performed to test for statistical differences.Of 39 eligible cases, 16 (41%) participated in the study. One child (6%) was born with a congenital anomaly, and two children (12.5%) reported a chronic health concern. Compared with population norms, no significant differences were observed with respect to intelligence, mental health, child development and educational ability; children had significantly higher scores indicative of better functioning on bodily pain, social-emotional behaviour and physical functioning. No child satisfied the criteria for having a special health care need.Children in this study with a prenatally detected de novo ABCR have similar long-term health, developmental and behavioural outcomes compared with population norms.
- Published
- 2012
13. New estimates of down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population
- Author
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Lyndsey Watson, Jane Halliday, Judith Lumley, David M. Danks, and Leslie J. Sheffield
- Subjects
Adult ,Down syndrome ,medicine.medical_specialty ,Pregnancy, High-Risk ,Genetic counseling ,Population ,Chorionic villus sampling ,Prenatal diagnosis ,Pregnancy ,Risk Factors ,medicine ,Humans ,Advanced maternal age ,education ,Genetics (clinical) ,education.field_of_study ,medicine.diagnostic_test ,business.industry ,Obstetrics ,Obstetrics and Gynecology ,Middle Aged ,medicine.disease ,Chorionic Villi Sampling ,Amniocentesis ,Regression Analysis ,Female ,Down Syndrome ,business ,Maternal Age - Abstract
Current measures of livebirth prevalence of Down syndrome are derived from data obtained up to 20 years ago, before the introduction of the prenatal diagnostic tests amniocentesis and chorionic villus sampling (CVS). For women aged 36-52 years, but who were not tested prenatally, we proposed to make a direct estimate of current livebirth prevalence of Down syndrome. We could also determine prevalence at the time of CVS and amniocentesis in women of the same age undergoing prenatal testing. Differences in these prevalences allow an estimation of the relative loss of Down syndrome during pregnancy. In Victoria, Australia, we identified 3041 women having CVS, 7504 having amniocentesis, and 13,139 having no test. Smoothed regression estimates of age-specific livebirth prevalence were found to be higher than in the early studies. The estimate of spontaneous loss was 17 per cent between the time of CVS and amniocentesis, and 18 per cent after the time of amniocentesis. The latter figure is lower than previous estimates and may be explained by a greater likelihood of a Down syndrome fetus surviving to be liveborn, given the modern approach to early obstetric intervention. These current risk estimates of livebirth may be useful updates for genetic counselling, but perhaps more importantly, may be used as precise maternal age-related risk figures, necessary in the design and implementation of prenatal screening programmes for Down syndrome.
- Published
- 1995
14. Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome
- Author
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Jane Halliday, Evelyne Muggli, Ivan Francis, David J. Amor, Alice M. Jaques, Leslie J. Sheffield, and Veronica Collins
- Subjects
Adult ,medicine.medical_specialty ,Down syndrome ,Victoria ,Decision Making ,Prenatal diagnosis ,Trisomy ,Pregnancy ,Prenatal Diagnosis ,medicine ,Humans ,Mass Screening ,Genetics (clinical) ,Mass screening ,Genetic testing ,Gynecology ,medicine.diagnostic_test ,business.industry ,Obstetrics ,Obstetrics and Gynecology ,Abortion, Induced ,medicine.disease ,Clinical research ,Amniocentesis ,Female ,Down Syndrome ,business ,Chromosomes, Human, Pair 18 ,Record linkage ,Algorithms ,Program Evaluation - Abstract
Objectives To map prenatal screening and diagnostic testing pathways in Victorian pregnant women during 2003 to 2004; measure the impact of prenatal diagnostic testing uptake on the effectiveness of prenatal screening for Down syndrome; and assess factors influencing uptake of diagnostic testing following screening. Methods State-wide data collections of prenatal screening and diagnostic tests were linked to all Victorian births and pregnancy terminations for birth defects. Results Overall, 52% of women had a prenatal test (65 692/126 305); screening (44.9%), diagnostic testing (3.9%), or both (3.2%). Uptake of diagnostic testing was 71.4% (2390/3349) after an increased risk screen result, and 2.5% (1381/54 286) after a low risk result. Variation in uptake of diagnostic testing reduced the effectiveness of the screening program by 11.2%: from 87.4% (sensitivity − 125/143) to 76.2% (prenatal diagnoses of Down syndrome − 109/143). In both the increased and low risk groups, uptake was influenced by absolute numerical risk, as well as by the change in numerical risk from a priori risk. Conclusions This comprehensive follow-up demonstrates clearly that numerical risk is being used to aid in decision making about confirmatory diagnostic testing. Collectively, these fundamental individual decisions will impact on the overall effectiveness of screening programmes for Down syndrome. Copyright © 2010 John Wiley & Sons, Ltd.
- Published
- 2010
15. Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit
- Author
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Sharon, Lewis, George, McGillivray, Shelley, Rowlands, and Jane, Halliday
- Subjects
Male ,Perinatal Care ,Fetus ,Prenatal Diagnosis ,Infant Mortality ,Infant, Newborn ,Humans ,Female ,Gestational Age ,Perinatal Mortality ,Congenital Abnormalities - Abstract
To determine the perinatal outcomes of the first 1057 cases seen at a fetal management unit (FMU).Record linkage of FMU data with the Victorian Birth data and the Victorian Births Defects Register (BDR).Ninety-nine percent of cases were followed up with 811 (77%) linked to the BDR and 202 (22%) linked to the birth data. Almost two-thirds of cases with birth defects (528) were live births surviving 28 days, 52 (6%) were neonatal deaths, 26 (3%) were stillbirths and 205 (25%) were terminations. The birth defects most prevalent were of the heart/circulatory system (31%). Cases that resulted in a termination were significantly more likely to have multiple birth defects [OR 2.43 (95% CI 1.70, 3.48)], a chromosomal birth defect [OR 3.30 (95% CI 1.96, 5.57)], a lethal birth defect [OR 1.32 (95% CI 1.25, 1.38)], or a syndrome [OR 4.81 (95% CI 2.54, 9.11)]. In this setting, 61% of cases of Down syndrome resulted in a live birth.Over three-quarters of cases referred to the FMU were confirmed with a birth defect and notified to the BDR. Notably, two-thirds of the cases (with or without a birth defect) were live births surviving 28 days.
- Published
- 2010
16. A comparison of Australian and UK obstetricians' and midwives' preferences for screening tests for Down syndrome
- Author
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Sharon Lewis, Fiona Cullinane, Theresa M. Marteau, Amanda J. Bishop, Lyn S. Chitty, and Jane Halliday
- Subjects
Adult ,Male ,Down syndrome ,Cross-sectional study ,Attitude of Health Personnel ,education ,Prenatal diagnosis ,Midwifery ,Nursing ,Obstetrics and gynaecology ,Pregnancy ,Prenatal Diagnosis ,Surveys and Questionnaires ,Health care ,medicine ,Humans ,reproductive and urinary physiology ,health care economics and organizations ,Genetics (clinical) ,business.industry ,Australia ,Obstetrics and Gynecology ,Questionnaire ,Middle Aged ,medicine.disease ,female genital diseases and pregnancy complications ,United Kingdom ,Test (assessment) ,Obstetrics ,Cross-Sectional Studies ,Female ,Down Syndrome ,business - Abstract
Objective To establish and compare obstetricians' and midwives' preferences for hypothetical prenatal screening tests for Down syndrome. Methods A cross-sectional questionnaire survey was completed by 296 obstetricians and midwives at two teaching hospitals: one in Melbourne, Australia (n = 175), and one in London, UK (n = 94). Conjoint analysis was undertaken using random effects probit regression. Results No significant differences were seen in any measurements when comparing obstetricians in Australia and the UK or midwives in Australia and the UK. Obstetricians and midwives shared similar relative values regarding the importance of the detection rate of the screening tests. However, obstetricians placed higher relative values on both timing of prenatal tests and risk associated with the subsequent diagnostic test than did midwives when considering optimal tests to offer women. Marginal rates of substitution suggest that, compared with midwives, obstetricians would wait longer and accept a greater decrease in detection rate for a test if it was safer. Younger midwives placed higher value on both detection rate and safety of prenatal tests than older midwives. Female obstetricians placed higher value on the timing of a test than male obstetricians. Conclusion Obstetricians in Australia and UK placed almost identical importance on test attributes, as did the midwives in the two countries. However, different attitudes towards tests were seen between obstetricians and midwives.
- Published
- 2005
17. Informed choice in women attending private clinics to undergo first-trimester screening for Down syndrome
- Author
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Jane Halliday, Leslie J. Sheffield, and Alice M. Jaques
- Subjects
Adult ,Informed choice ,medicine.medical_specialty ,Down syndrome ,Victoria ,Cross-sectional study ,Prenatal diagnosis ,Choice Behavior ,McNemar's test ,Informed consent ,Pregnancy ,Prenatal Diagnosis ,Surveys and Questionnaires ,medicine ,Humans ,Mass Screening ,Genetics (clinical) ,Mass screening ,Gynecology ,Informed Consent ,business.industry ,Obstetrics and Gynecology ,medicine.disease ,Test (assessment) ,Pregnancy Trimester, First ,Cross-Sectional Studies ,Family medicine ,Educational Status ,Female ,Down Syndrome ,business - Abstract
Objectives Informed choice for prenatal screening has long been considered an essential aspect of service provision, and has been researched extensively in the second trimester. This study aims at examining whether women having first-trimester screening in a private clinic had made an informed choice. Methods A cross-sectional survey recruited women having first-trimester screening at specialist ultrasound practices. Two questionnaires containing a validated Multidimensional Measure of Informed Choice (MMIC) were self-administered pre- and post-screening. Results MMIC was completed by 81% (163/202) of women. Ninety-nine percent of women had a positive attitude towards screening, therefore informed choice was essentially measured on knowledge alone. Pre-screening, 68% made an informed choice, compared with 74% post-screening (χ2 = 1.6, p = 0.21 (McNemar)). Knowledge was associated with education level, information sources and perception of screening as routine or optional. Conclusions The Australasian Guidelines on prenatal screening state that all women having testing should be provided with written information, and it should be ensured that they have appropriate understanding of the test(s). These guidelines are not being met, even in private clinical care. Health professionals should ensure that all women are provided with suitable information about prenatal screening that is tailored to their level of education and individual needs, and should emphasise that screening is optional. Copyright © 2005 John Wiley & Sons, Ltd.
- Published
- 2005
18. Uptake of prenatal screening for chromosomal anomalies: impact of test results in a previous pregnancy
- Author
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Veronica Collins, Jane Halliday, and Robert Williamson
- Subjects
Adult ,Chromosome Aberrations ,medicine.medical_specialty ,Pregnancy ,Wales ,business.industry ,Obstetrics ,Previous pregnancy ,Obstetrics and Gynecology ,Prenatal diagnosis ,medicine.disease ,Test (assessment) ,Treatment Refusal ,Parity ,Prenatal screening ,England ,Prenatal Diagnosis ,Medicine ,Humans ,Female ,business ,Parity (mathematics) ,Genetics (clinical) - Published
- 2003
19. Utilization of prenatal cytogenetic diagnosis in women of advanced maternal age in Australia, 1979–1982
- Author
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J. Pearn, Grant R. Sutherland, Jane Halliday, S. Purvis-Smith, N. Martin, M. Mulcahy, J. Ford, Judith A. Bell, and G. Cohen
- Subjects
Adult ,Pediatrics ,medicine.medical_specialty ,Pregnancy, High-Risk ,Chromosome Disorders ,Prenatal diagnosis ,Pregnancy ,Humans ,Medicine ,Genetic Testing ,Advanced maternal age ,Genetics (clinical) ,Chromosome Aberrations ,medicine.diagnostic_test ,business.industry ,Australia ,Obstetrics and Gynecology ,Amniotic Fluid ,medicine.disease ,Amniocentesis ,Female ,business ,Utilization rate ,Maternal Age ,Demography - Abstract
This paper reports the results of a complete national survey to measure utilization rates of prenatal cytogenetic diagnosis (P.C.D.) in women of advanced maternal age in Australia. P.C.D. has been available throughout Australia for the last decade. Every laboratory in Australia providing a P.C.D. service for the years 1979-1982 took part in this study. Utilization rates (both National and State rates) by ages of mothers, are presented. Big interstate differences exist. The 1982 National P.C.D. utilization rate for pregnant women who were 40 years of age and over was 38.8 per cent, and this rate has shown an average annual increase of 9 per cent. In those four States which offered P.C.D. to pregnant women of 35 years or over the median utilization rate was 20 per cent. These Australian rates indicate an under-utilization of P.C.D. services with (in 1982) 50-80 per cent of 'at risk' women not being tested. Factors which influence this are discussed.
- Published
- 1985
20. Uptake of prenatal screening for chromosomal anomalies: impact of test results in a previous pregnancy.
- Author
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Robert Williamson, Veronica Collins, and Jane Halliday
- Published
- 2003
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