Kemper Alex R, Uren Rebecca L, Moseley Kathryn L, Clark Sarah J
Department of Pediatrics, Duke University, Durham, North Carolina, USA.
Pediatrics. 2006 Nov;118(5):1836-41. doi: 10.1542/peds.2006-1639.
Although primary care physicians are responsible for providing follow-up care after a positive newborn screen, little is known about their willingness or ability to do so.
A national mail survey of a random sample of 350 general pediatricians and 350 family physicians was conducted from April to June 2006.
The response rate was 63% among pediatricians and 50% among family physicians. Most pediatricians (89.7%) and nearly one half of family physicians (44.1%) had had a patient with a positive newborn screen within the past 5 years. Most respondents thought that primary care physicians should be responsible for informing families about a positive newborn screen (73.2%), arranging confirmatory testing (66.0%), and coordinating subspecialty referral (85.3%). However, more than one half (56.2%) would prefer newborn screening programs to provide the initial evaluation of positive newborn screening results. Some respondents (but fewer pediatricians than family physicians) reported that they were not competent to discuss conditions included in newborn screening panels (eg, 22.6% of pediatricians and 53.2% of family physicians for phenylketonuria and 8.8% of pediatricians and 40.4% of family physicians for congenital hypothyroidism). More than one half (58.3%) thought that families with a child diagnosed as having congenital hypothyroidism should receive formal genetic counseling. Respondents were less likely to think that families with a child with sickle cell trait, compared with families with a child who is a cystic fibrosis carrier, should receive formal genetic counseling (69.3% vs 84.1%).
Many primary care physicians are not prepared to manage the follow-up care of children with a positive newborn screen, including initial counseling, diagnosis, and subspecialty referral. New strategies are needed to ensure appropriate and equitable health care delivery.
尽管初级保健医生负责在新生儿筛查呈阳性后提供后续护理，但对于他们这样做的意愿或能力知之甚少。
2006年4月至6月，对350名普通儿科医生和350名家庭医生的随机样本进行了全国性邮寄调查。
儿科医生的回复率为63%，家庭医生的回复率为50%。大多数儿科医生（89.7%）和近一半的家庭医生（44.1%）在过去5年内曾有过新生儿筛查呈阳性的患者。大多数受访者认为初级保健医生应负责告知家庭新生儿筛查呈阳性（73.2%）、安排确诊检测（66.0%）以及协调专科转诊（85.3%）。然而，超过一半（56.2%）的人更希望新生儿筛查项目对新生儿筛查阳性结果进行初步评估。一些受访者（儿科医生比家庭医生少）报告称，他们没有能力讨论新生儿筛查项目中包含的病症（例如，22.6%的儿科医生和53.2%的家庭医生对于苯丙酮尿症，8.8%的儿科医生和40.4%的家庭医生对于先天性甲状腺功能减退症）。超过一半（58.3%）的人认为，孩子被诊断为患有先天性甲状腺功能减退症的家庭应接受正式的遗传咨询。与孩子是囊性纤维化携带者的家庭相比，受访者认为孩子患有镰状细胞性状的家庭接受正式遗传咨询的可能性较小（69.3%对84.1%）。
许多初级保健医生没有准备好管理新生儿筛查呈阳性儿童的后续护理，包括初始咨询、诊断和专科转诊。需要新的策略来确保提供适当和公平的医疗服务。
