{"title":"无细胞DNA无创产前筛查","authors":"Christine Mladenka","doi":"10.1097/JXX.0000000000000710","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>Noninvasive prenatal screening using cell-free DNA involves analysis of a sample of maternal blood for DNA fragments of fetal chromosomes from the fetal-placental unit to detect common chromosome abnormalities, trisomy 21, trisomy 13, trisomy 18, and sex chromosomes as early as 10 weeks' gestation when the fetal fraction is usually more than 4%. It is the most sensitive and specific prenatal screening option for these conditions. Because it is a screening test, false-positive and false-negative results can occur. Positive screen results necessitate further evaluation for diagnosis to confirm a medical condition, before critical decisions regarding pregnancy are made. Professional organizations provide clinical recommendations to providers regarding prescreen and postscreen counseling and management of results.</p>","PeriodicalId":48812,"journal":{"name":"Journal of the American Association of Nurse Practitioners","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Noninvasive prenatal screening using cell-free DNA.\",\"authors\":\"Christine Mladenka\",\"doi\":\"10.1097/JXX.0000000000000710\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Abstract: </strong>Noninvasive prenatal screening using cell-free DNA involves analysis of a sample of maternal blood for DNA fragments of fetal chromosomes from the fetal-placental unit to detect common chromosome abnormalities, trisomy 21, trisomy 13, trisomy 18, and sex chromosomes as early as 10 weeks' gestation when the fetal fraction is usually more than 4%. It is the most sensitive and specific prenatal screening option for these conditions. Because it is a screening test, false-positive and false-negative results can occur. Positive screen results necessitate further evaluation for diagnosis to confirm a medical condition, before critical decisions regarding pregnancy are made. Professional organizations provide clinical recommendations to providers regarding prescreen and postscreen counseling and management of results.</p>\",\"PeriodicalId\":48812,\"journal\":{\"name\":\"Journal of the American Association of Nurse Practitioners\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2022-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the American Association of Nurse Practitioners\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/JXX.0000000000000710\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"HEALTH CARE SCIENCES & SERVICES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the American Association of Nurse Practitioners","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/JXX.0000000000000710","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"HEALTH CARE SCIENCES & SERVICES","Score":null,"Total":0}
Noninvasive prenatal screening using cell-free DNA.
Abstract: Noninvasive prenatal screening using cell-free DNA involves analysis of a sample of maternal blood for DNA fragments of fetal chromosomes from the fetal-placental unit to detect common chromosome abnormalities, trisomy 21, trisomy 13, trisomy 18, and sex chromosomes as early as 10 weeks' gestation when the fetal fraction is usually more than 4%. It is the most sensitive and specific prenatal screening option for these conditions. Because it is a screening test, false-positive and false-negative results can occur. Positive screen results necessitate further evaluation for diagnosis to confirm a medical condition, before critical decisions regarding pregnancy are made. Professional organizations provide clinical recommendations to providers regarding prescreen and postscreen counseling and management of results.
期刊介绍：
The Journal of the American Association of Nurse Practitioners (JAANP) is a monthly peer-reviewed professional journal that serves as the official publication of the American Association of Nurse Practitioners.
Published since 1989, the JAANP provides a strong clinical focus with articles related to primary, secondary, and tertiary care, nurse practitioner education, health policy, ethics and ethical issues, and health care delivery. The journal publishes original research, integrative/comprehensive reviews, case studies, a variety of topics in clinical practice, and theory-based articles related to patient and professional education. Although the majority of nurse practitioners function in primary care, there is an increasing focus on the provision of care across all types of systems from acute to long-term care settings.
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