Department of Pathology and Laboratory Medicine, Chemical Pathology, Aga Khan University, Karachi, Pakistan.
Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
PLoS One. 2023 Jan 6;18(1):e0279931. doi: 10.1371/journal.pone.0279931. eCollection 2023.
The study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.
DBS samples were collected within 48-72 hours of life. Samples were analyzed for biochemical markers on tandem mass spectrometer at the University of Iowa. Comparison of RI across various categorical variables were performed.
A total of 610 reference samples were selected based on exclusion criteria; 53.2% being females. Mean gestational age (GA) of mothers at the time of delivery was 38.7±1.6 weeks; 24.5% neonates were of low birth weight and 14.3% were preterm. Out of the total 610 neonates, 23.1% were small for GA. Reference intervals were generated for eleven amino acids, thirty-two acylcarnitines and succinylacetone concentrations. Markers were evaluated with respect to the influence of gender, GA, weight and time of sampling and statistically significant minimal differences were observed for some biomarkers.
RI for amino acids, succinylacetone and acylcarnitine on DBS has been established for healthy neonates, which could be of use in the clinical practice. Clinically significant effect of GA, weight, gender and time of sampling on these markers were not identified.
本研究旨在确定新生儿干血斑（DBS）-氨基酸、酰基肉碱和丁酰基辅酶 A 的参考区间（RI），并评估分析前变量对其的影响。
在出生后 48-72 小时内采集 DBS 样本。在爱荷华大学的串联质谱仪上对样本进行生化标志物分析。对各种分类变量的 RI 进行了比较。
根据排除标准，共选择了 610 份参考样本；其中 53.2%为女性。分娩时母亲的平均胎龄（GA）为 38.7±1.6 周；24.5%的新生儿为低出生体重儿，14.3%为早产儿。在总共 610 名新生儿中，有 23.1%的新生儿为 GA 小于胎龄儿。生成了 11 种氨基酸、32 种酰基肉碱和丁酰基辅酶 A 浓度的 RI。根据性别、GA、体重和采样时间对标志物进行了评估，发现一些生物标志物存在统计学上的显著最小差异。
本研究建立了健康新生儿 DBS 中氨基酸、丁酰基辅酶 A 和酰基肉碱的 RI，这可能对临床实践有用。未发现 GA、体重、性别和采样时间对这些标志物有临床意义的影响。
