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1.
Acta Obstet Gynecol Scand ; 103(2): 351-359, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37986093

RESUMEN

INTRODUCTION: In this register-based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome aberrations). Additionally, we aimed to disentangle the maternal age-related effect on fetal aneuploidies by cases with translocation trisomies and mosaicisms. MATERIAL AND METHODS: We followed a nationwide cohort of 542 375 singleton-pregnant women attending first trimester screening in Denmark between 2008 and 2017 until delivery, miscarriage or termination of pregnancy. We used six maternal age categories and retrieved information on genetically confirmed aneuploidies of the fetus and infant from the national cytogenetic register. RESULTS: We confirmed the known associations between advanced maternal age and higher risk of trisomy 21, 18, 13 and other sex chromosome aberrations, especially in women aged ≥35 years, whereas we found no age-related associations with triploidy or monosomy X. Cases with translocation trisomies and mosaicisms did not influence the overall reported association between maternal age and aneuploidies. CONCLUSION: This study provides insight into the accurate risk of fetal aneuploidies that pregnant women of advanced ages encounter.


Asunto(s)
Trastornos de los Cromosomas , Síndrome de Down , Síndrome de Turner , Femenino , Embarazo , Humanos , Edad Materna , Síndrome de Down/epidemiología , Síndrome de Down/genética , Síndrome de Down/diagnóstico , Trisomía/genética , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/epidemiología , Trastornos de los Cromosomas/genética , Diagnóstico Prenatal , Estudios de Cohortes , Triploidía , Aneuploidia , Aberraciones Cromosómicas Sexuales , Síndrome de la Trisomía 18/epidemiología , Feto , Mosaicismo , Dinamarca/epidemiología
2.
Eur J Cancer ; 162: 34-44, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34953441

RESUMEN

BACKGROUND: Long-term follow-up (LTFU) care, although endorsed, is not available for the majority of adult survivors of childhood, adolescence and young adult (CAYA) cancer. Barriers to implementation include lack of time, knowledge, personnel and funding. Sustainable solutions are urgently needed to address the needs of CAYA cancer survivors to improve the quality of life and reduce the burden of late effects on survivors, health care systems and society. The European Union-funded PanCareFollowUp project, initiated by the Pan-European Network for Care of Survivors after Childhood and Adolescent Cancer, was established to facilitate the implementation of person-centred survivorship care across Europe. PATIENTS AND METHODS: The PanCareFollowUp Care Intervention was co-developed with survivors as part of the PanCareFollowUp project. It is a person-centred approach to survivorship care, supported by guidelines and with flexibility to adapt to local health care settings. The Care Intervention consists of three steps: (1) previsit completion of a Survivor Questionnaire (by the survivor) and Treatment Summary (by the health care provider [HCP]), (2) a clinic visit including shared decision-making, and (3) a follow-up call to finalise the individualised Survivorship Care Plan. RESULTS: We developed the key components of the PanCareFollowUp Care Intervention: a PanCareFollowUp Survivor Questionnaire, Treatment Summary template, Survivorship Care Plan template, and educational materials for HCPs and survivors. Wide implementation of the PanCareFollowUp Care Intervention will be supported with a freely distributed Replication Manual on completion of the PanCareFollowUp project. CONCLUSIONS: The PanCareFollowUp Care Intervention will support the implementation of person-centred, guideline-based LTFU care in different health care settings across Europe to improve survivors' health and well-being.


Asunto(s)
Supervivientes de Cáncer , Neoplasias , Adolescente , Humanos , Neoplasias/terapia , Calidad de Vida , Sobrevivientes , Supervivencia , Adulto Joven
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