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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Development of a Maternal-Fetal Questionnaire to A ...
Development of a Maternal-Fetal Questionnaire to Aid in the Improvement of Prenatal Care for Lymphatic Anomalies
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Pdf Summary
Complex lymphatic anomalies (CLAs) are a diverse set of disorders characterized by malformations of the lymphatic system. They can manifest as localized or diffuse abnormalities and may present during pregnancy with symptoms such as fetal hydrops, effusions, or polyhydramnios. However, there is currently no systematic evaluation of the management options offered to fetuses with these symptoms.<br /><br />The purpose of the study mentioned in the document is to identify diagnostic and treatment options and support provided to parents of children diagnosed with lymphatic anomalies in order to develop guidelines for best practices. As part of the study, a parental questionnaire has been developed and will be used to gather information from affected individuals and their first-degree relatives.<br /><br />The questionnaire aims to gather information on various aspects of prenatal care for lymphatic anomalies, such as the providers involved in the diagnosis, the referrals given, psychosocial support provided, available resources, and the effects on parents' mental health during and after pregnancy. It also explores factors related to the understanding of the diagnosis, genetic testing and management barriers, treatment options discussed and offered, and the etiology of the diagnosis.<br /><br />Recruitment for the study began in February 2023, with the first patient expected in April 2023. Once implemented, the questionnaire will provide valuable information that can inform further research and contribute to improved care practices for families with CLAs. The ultimate goal is to enhance the consistency and quality of care for individuals with lymphatic anomalies.<br /><br />The authors acknowledge the support of the Eunice Kennedy Shriver National Institute of Child Health and Human Development for their research. They also reference relevant publications on vascular anomalies and the diagnosis and management of complex lymphatic anomalies.<br /><br />Overall, this document provides an overview of the study's purpose, methodology, and expected outcomes, highlighting the need for improved care practices and the potential impact of the parental questionnaire in achieving that goal.
Asset Subtitle
Presenting Author - Andrea I. Bowling, MSN, APRN, FNP-C; Co-Author - Kristina M. Woodis, BS; Co-Author - Sarah E. Sheppard; Co-Author - Erica Schindewolf, MS;
Meta Tag
Congenital Anomaly
Malformation
Natural History
Co-Author
Kristina M. Woodis, BS
Co-Author
Sarah E. Sheppard
Co-Author
Erica Schindewolf, MS
Presenting Author
Andrea I. Bowling, MSN, APRN, FNP-C
Keywords
Complex lymphatic anomalies
lymphatic system malformations
fetal hydrops
effusions
polyhydramnios
parental questionnaire
prenatal care
mental health
genetic testing
improved care practices
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