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1.
Acta Paediatr ; 112(9): 1926-1935, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37272253

RESUMO

AIM: The aim of the study was to explore the perspectives of adults born prematurely on guidelines for management at extreme premature birth and personalisation at the limit of viability. METHODS: We conducted four 2-h online focus group interviews in the Netherlands. RESULTS: Twenty-three participants born prematurely were included in this study, ranging in age from 19 to 56 years and representing a variety of health outcomes. Participants shared their perspectives on different types of guidelines for managing extremely premature birth. They agreed that a guideline was necessary to prevent arbitrary treatment decisions and to avoid physician bias. All participants favoured a guideline that is based upon multiple prognostic factors beyond gestational age. They emphasised the importance of discretion, regardless of the type of guideline used. Discussions centred mainly on the heterogeneity of value judgements about outcomes after extreme premature birth. Participants defined personalisation as 'not just looking at numbers and statistics'. They associated personalisation mainly with information provision and decision-making. Participants stressed the importance of involving families in decision-making and taking their care needs seriously. CONCLUSION: Adults born prematurely prefer a periviability guideline that considers multiple prognostic factors and allows for discretion.


Assuntos
Recém-Nascido Prematuro , Nascimento Prematuro , Recém-Nascido , Gravidez , Feminino , Humanos , Adulto , Adulto Jovem , Pessoa de Meia-Idade , Idade Gestacional , Prognóstico , Parto
4.
Prenat Diagn ; 36(12): 1083-1090, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27750376

RESUMO

OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study). METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome. RESULTS: Between 1 April and 1 September 2014, 1413/23 232 (6%) women received a high-risk FCT result. Of these, 1211 (85.7%) chose NIPT. One hundred seventy-nine women had NIPT based on medical history. In total, 1386/1390 (99.7%) women received a result, 6 (0.4%) after redraw. Mean turn-around time was 14 days. Follow-up was available in 1376 (99.0%) pregnancies. NIPT correctly predicted 37/38 (97.4%) trisomies 21, 18 or 13 (29/30, 4/4 and 4/4 respectively); 5/1376 (0.4%) cases proved to be false positives: trisomies 21 (n = 2), 18 (n = 1) and 13 (n = 2). Estimated reduction in invasive testing was 62%. CONCLUSION: Introduction of NIPT in the Dutch National healthcare-funded Prenatal Screening Program resulted in high uptake and a vast reduction of invasive testing. Our study supports offering NIPT to pregnant women at increased risk for fetal trisomy. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.


Assuntos
Transtornos Cromossômicos/diagnóstico , DNA/sangue , Análise de Sequência de DNA/métodos , Adulto , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Síndrome de Down/diagnóstico , Reações Falso-Negativas , Reações Falso-Positivas , Feminino , Seguimentos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Países Baixos , Medição da Translucência Nucal , Gravidez , Primeiro Trimestre da Gravidez , Fatores de Tempo , Trissomia/diagnóstico , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18 , Ultrassonografia Pré-Natal
6.
Expert Rev Hematol ; 15(11): 987-998, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36264850

RESUMO

INTRODUCTION: Hemolytic disease of the fetus and newborn (HDFN) is a condition caused by maternal alloantibodies against fetal red blood cells (RBCs) that can cause severe morbidity and mortality in the fetus and newborn. Adequate screening programs allow for timely prevention and intervention resulting in significant reduction of the disease over the last decades. Nevertheless, HDFN still occurs and with current treatment having reached an optimum, focus shifts toward noninvasive therapy options. AREAS COVERED: This review focusses on the timely identification of high risk cases and antenatal management. Furthermore, we elaborate on future perspectives including improvement of screening, identification of high risk cases and promising treatment options. EXPERT OPINION: In high-income countries mortality and morbidity rates due to HDFN have drastically been reduced over the last decades, yet worldwide anti-D mediated HDFN still accounts for 160,000 perinatal deaths and 100,000 patients with disabilities every year. Much of these deaths and disabilities could have been avoided with proper identification and prophylaxis. By implementing sustainable prevention, screening, and disease treatment measures in all countries this will systemically reduce unnecessary perinatal deaths. There is a common responsibility to engage in this cause.


Assuntos
Anemia , Eritroblastose Fetal , Doenças Fetais , Morte Perinatal , Recém-Nascido , Humanos , Feminino , Gravidez , Eritroblastose Fetal/diagnóstico , Eritroblastose Fetal/etiologia , Eritroblastose Fetal/prevenção & controle , Hemólise , Doenças Fetais/diagnóstico , Doenças Fetais/etiologia , Doenças Fetais/terapia , Isoanticorpos
7.
Artigo em Inglês | MEDLINE | ID: mdl-35457577

RESUMO

The COVID-19 pandemic has a major impact on society, particularly affecting its vulnerable members, including pregnant women and their unborn children. Pregnant mothers reported fear of infection, fear of vertical transmission, fear of poor birth and child outcomes, social isolation, uncertainty about their partner's presence during medical appointments and delivery, increased domestic abuse, and other collateral damage, including vaccine hesitancy. Accordingly, pregnant women's known vulnerability for mental health problems has become a concern during the COVID-19 pandemic, also because of the known effects of prenatal stress for the unborn child. The current narrative review provides a historical overview of transgenerational effects of exposure to disasters during pregnancy, and the role of maternal prenatal stress. We place these effects into the perspective of the COVID-19 pandemic. Hereby, we aim to draw attention to the psychological impact of the COVID-19 pandemic on women of reproductive age (15-49 year) and its potential associated short-term and long-term consequences for the health of children who are conceived, carried, and born during this pandemic. Timely detection and intervention during the first 1000 days is essential to reduce the burden of transgenerational effects of the COVID-19 pandemic.


Assuntos
COVID-19 , COVID-19/epidemiologia , Feminino , Humanos , Pandemias , Parto/psicologia , Gravidez , Gestantes/psicologia , Estresse Psicológico/epidemiologia , Estresse Psicológico/etiologia
10.
Patient Educ Couns ; 93(3): 641-5, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24011429

RESUMO

OBJECTIVE: To investigate the attitude among pregnant women regarding non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21) and to quantify their willingness to pay for NIPT. METHODS: A questionnaire was administered to pregnant women who received counselling for first-trimester screening (FTS) in two hospitals and nine midwife practices in the Netherlands. RESULTS: A total of 147 women completed the questionnaire, yielding a response rate of 43%. If NIPT for detecting T21 were available, 81% stated they would choose to have this test, and 57% of women who elected not to undergo FTS in their current pregnancy would perform NIPT if available. Willingness to pay for NIPT was correlated with age and income, but not education level. The price that participants were willing to pay for NIPT was similar to the current price for FTS. CONCLUSION: The pregnant women in our study had a positive attitude regarding NIPT for T21, and more than half of the women who rejected prenatal screening would receive NIPT if available. PRACTICE IMPLICATIONS: Due to the elimination of iatrogenic miscarriage, caregivers should be aware that informed decision-making can change with respect to prenatal screening with the introduction of NIPT.


Assuntos
Síndrome de Down/diagnóstico , Preferência do Paciente , Diagnóstico Pré-Natal/métodos , Adulto , Cromossomos Humanos Par 21 , Tomada de Decisões , Síndrome de Down/economia , Síndrome de Down/genética , Honorários e Preços , Feminino , Gastos em Saúde , Humanos , Consentimento Livre e Esclarecido , Países Baixos , Gravidez , Diagnóstico Pré-Natal/economia , Fatores Socioeconômicos , Inquéritos e Questionários , Adulto Jovem
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