Center for Advanced Studies and Technology (CAST), "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Nutrients. 2023 May 13;15(10):2297. doi: 10.3390/nu15102297.
Expanded newborn screening (NBS) is a preventive program that allows for the early identification of over 40 congenital endocrine-metabolic diseases by analyzing dried blood spot samples collected from the newborn's heel within 48-72 h of birth. The determination of amino acids and acyl-carnitines by Flow Injection Analysis Tandem Mass Spectrometry (FIA-MS/MS) may also highlight metabolic alterations resulting from external factors, such as maternal nutrition. In the present study, we developed a questionnaire to investigate the eating habits of 109 women during pregnancy and statistically correlated the results from the investigation on dietary habits with the data obtained by the NBS laboratory of Abruzzo region (Italy). Parameters such as smoking, physical activity, and the intake of iodized salt, drugs, and supplements were analyzed. This study aimed to highlight how maternal lifestyle, diet, and drug intake during pregnancy may affect the neonatal metabolic profile, possibly generating false positive or false negative results in the NBS test. The results pointed out how the knowledge of maternal nutrition and lifestyle may also be precious in preventing misinterpretations of the neonatal metabolic profile, thereby reducing unnecessary stress for newborns and their parents and limiting costs for the health system.
扩展新生儿筛查(NBS)是一项预防计划,通过分析新生儿出生后 48-72 小时内从脚跟采集的干血斑样本,可早期识别 40 多种先天性内分泌代谢疾病。采用流动注射分析串联质谱法(FIA-MS/MS)测定氨基酸和酰基肉碱,也可能突出因母体营养等外部因素导致的代谢改变。在本研究中,我们开发了一份问卷,调查了 109 名孕妇的饮食习惯,并将饮食习惯的调查结果与意大利阿布鲁佐地区 NBS 实验室的数据进行了统计学相关性分析。分析了吸烟、体力活动以及摄入碘盐、药物和补品等参数。本研究旨在强调孕妇在怀孕期间的生活方式、饮食和药物摄入如何可能影响新生儿的代谢谱,从而导致 NBS 测试产生假阳性或假阴性结果。结果表明,母体营养和生活方式的知识也可能有助于预防对新生儿代谢谱的误解,从而减少对新生儿及其父母的不必要压力,并限制卫生系统的成本。