Day S W, Brunson G E, Wang W C
Mid-South Sickle Cell Center, Le Bonheur Children's Medical Center in Memphis, TN, USA.
Pediatr Nurs. 1997 Nov-Dec;23(6):557-61.
Every year more than 50,000 infants with sickle cell trait are identified through newborn screening programs. An infant with trait provides a "genetic window" into a family that may be at risk for having a child with sickle cell disease. No national standards have been established for newborn trait follow-up and family counseling. In the United States, counseling to families having an infant with trait is usually very limited in scope and, in many cases, nonexistent. In West Tennessee, the Mid-South Sickle Cell Center (MSSCC) and the Department of Health have jointly developed an effective, practical, and affordable trait counseling program. A five-step counseling protocol, an accompanying counseling manual, a documentation checklist, and a fact sheet for parents were developed to support trait counselling. By training and using health department nurses, this program has provided counseling to a large percentage of families in which an infant tests positive for sickle cell trait.
每年通过新生儿筛查项目可识别出超过50000名患有镰状细胞特征的婴儿。携带该特征的婴儿为一个家庭提供了一扇“基因窗口”,该家庭可能有生育患有镰状细胞病孩子的风险。目前尚未制定关于新生儿特征后续跟进及家庭咨询的国家标准。在美国,对有携带特征婴儿的家庭进行的咨询通常范围非常有限,而且在很多情况下根本不存在。在田纳西州西部,中南部镰状细胞中心(MSSCC)和卫生部联合制定了一项有效、实用且经济实惠的特征咨询项目。制定了一个五步咨询方案、一本配套的咨询手册、一份文件清单以及一份给家长的情况说明书来支持特征咨询。通过培训和使用卫生部门的护士,该项目已为很大比例的婴儿镰状细胞特征检测呈阳性的家庭提供了咨询服务。