Zetterström Rolf H, Karlsson Leif, Falhammar Henrik, Lajic Svetlana, Nordenström Anna
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
Int J Neonatal Screen. 2020 Aug 28;6(3):71. doi: 10.3390/ijns6030071.
Congenital adrenal hyperplasia (CAH) was the fourth disorder added to the national Swedish neonatal screening program in 1986, and approximately 115,000 newborns are screened annually. Dried blood spot (DBS) screening with measurement of 17-hydroxyprogesterone (17OHP) is also offered to older children moving to Sweden from countries lacking a national DBS screening program. Here, we report an update on the CAH screening from January 2011 until December 2019. : During the study period, 1,030,409 newborns and 34,713 older children were screened. In total, 87 newborns were verified to have CAH, which gives an overall positive predictive value (PPV) of 11% and 21% for term infants. Including the five missed CAH cases identified during this period, this gives an incidence of 1:11,200 of CAH in Sweden. Among the older children, 12 of 14 recalled cases were found to be true positive for CAH. All patients were genotyped as part of the clinical follow-up and 70% of the newborns had salt wasting (SW) CAH and 92% had classic CAH (i.e., SW and simple virilizing (SV) CAH). In the group of 12 older children, none had SW CAH and two had SV CAH. : The incidence of classic CAH is relatively high in Sweden. Early genetic confirmation with genotyping has been a valuable complement to the analysis of 17OHP to predict disease severity, make treatment decisions and for the follow-up and evaluation of the screening program.
先天性肾上腺皮质增生症（CAH）是1986年被纳入瑞典国家新生儿筛查项目的第四种疾病，每年约有11.5万名新生儿接受筛查。对于从缺乏国家干血斑（DBS）筛查项目的国家移居至瑞典的大龄儿童，也会提供通过检测17-羟孕酮（17OHP）进行的DBS筛查。在此，我们报告2011年1月至2019年12月期间CAH筛查的最新情况。：在研究期间，对1,030,409名新生儿和34,713名大龄儿童进行了筛查。总共87名新生儿被确诊患有CAH，足月婴儿的总体阳性预测值（PPV）为11%，21%。包括在此期间发现的5例漏诊的CAH病例，瑞典CAH的发病率为1:11,200。在大龄儿童中，14例召回病例中有12例被发现CAH确诊。作为临床随访的一部分，所有患者都进行了基因分型，70%的新生儿患有失盐型（SW）CAH，92%患有典型CAH（即SW型和单纯男性化型（SV）CAH）。在12名大龄儿童组中，无人患有SW型CAH，2人患有SV型CAH。：瑞典典型CAH的发病率相对较高。通过基因分型进行早期基因确认是对17OHP分析的有价值补充，可用于预测疾病严重程度、做出治疗决策以及对筛查项目进行随访和评估。
