新生儿先天性肾上腺增生筛检:液相色谱串联质谱作为二次测试的效用。

IF 1.2 Q4 ENDOCRINOLOGY & METABOLISM
Clinical Pediatric Endocrinology Pub Date : 2025-01-01 Epub Date: 2024-11-25 DOI:10.1297/cpe.2024-0069
Toshihiro Tajima
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引用次数: 0

摘要

在日本,先天性肾上腺增生症(CAH)的新生儿筛查(NBS)始于1989年。NBS有助于早期诊断和防止性别误认,然而,与新生儿筛查发现的其他疾病相比,它对CAH的假阳性率更高。最近,使用液相色谱串联质谱(LC-MS/MS)进行二级检测可以减少假阳性率和重复血液采样。LC-MS/MS通常测量皮质醇(F)、雄烯二酮(A4)、11-脱氧皮质醇(11DOF)、21-脱氧皮质醇(21DOF)和17-羟基孕酮(17OHP)水平。(21DOF+17OHP)/F和(17OHP+A4)/F的比值被用来建立二级测试的临界值。在日本,二级测试使用11DOF/17OHP比率以及(21DOF+17OHP)/F和(17OHP+A4)/F比率来降低召回率。目前,由于设备成本的原因,使用LC-MS/MS进行CAH新生儿筛查的二级检测在日本所有地区都是不可行的,然而,它有望在未来在全国范围内实现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.

Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.

Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.

Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.

In Japan, newborn screening (NBS) for congenital adrenal hyperplasia (CAH) began in 1989. NBS is useful for early diagnosis and preventing gender misidentification, however, it has a higher false positive rate for CAH compared to other diseases detected by neonatal screening. Recently, it has become clear that using liquid chromatography with tandem mass spectrometry (LC-MS/MS) for second-tier testing reduces false positive rates and repeat blood sampling. LC-MS/MS commonly measures cortisol (F), androstenedione (A4), 11-deoxycortsiol (11DOF), 21-deoxycortisol (21DOF), and 17-hydroxyprogesterone (17OHP) levels. The ratios for (21DOF+17OHP)/F and (17OHP+A4)/F have been used to establish cut-off values for the second-tier test. In Japan, the recall rate is reduced using the 11DOF/17OHP ratio as well as the ratios for (21DOF+17OHP)/F and (17OHP+A4)/F for the second-tier test. Currently, second-tier testing using LC-MS/MS for CAH neonatal screening is unfeasible in all regions of Japan due to equipment costs, however, it will hopefully be available nationwide in the future.

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来源期刊
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.40
自引率
7.10%
发文量
34
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