Marseglia Lucia M, Nicotera Antonio, Salpietro Vincenzo, Giaimo Elisa, Cardile Giovanna, Bonsignore Maria, Alibrandi Angela, Caccamo Daniela, Manti Sara, D'Angelo Gabriella, Mamì Carmelo, Di Rosa Gabriella
Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Neonatal Intensive Care, University of Messina, Messina, Italy.
Department of Pediatric, Gynecological, Microbiological and Biomedical Sciences, Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.
Oxid Med Cell Longev. 2015;2015:543134. doi: 10.1155/2015/543134. Epub 2015 Feb 10.
Higher total homocysteine (tHcy) levels, and C677T and A1298C methylenetetrahydrofolate (MTHFR) polymorphisms, have been reported in preterm or full term newborns with neonatal encephalopathy following perinatal hypoxic-ischemic insult. This study investigated the causal role of tHcy and MTHFR polymorphisms together with other acquired risk factors on the occurrence of brain white matter abnormalities (WMA) detected by cranial ultrasound scans (cUS) in a population of late preterm and full term infants. A total of 171 newborns (81 M, 47.4%), 45 (26.3%) born <37 wks, and 126 (73.7%) born ≥37 wks were recruited in the study. cUS detected predominant WMA pattern in 36/171 newborns (21.1%) mainly characterized by abnormal periventricular white matter signal and mild-to-moderate periventricular white matter volume loss with ventricular dilatation (6/36, 16.6%). WMA resulted in being depending on tHcy levels (P < 0.014), lower GA (P < 0.000), lower Apgar score at 1 minutes (P < 0.000) and 5 minutes (P < 0.000), and 1298AC and 677CT/1298AC genotypes (P < 0.000 and P < 0.000). In conclusion, both acquired and genetic predisposing antenatal factors were significantly associated with adverse neonatal outcome and WMA. The role of A1298C polymorphism may be taken into account for prenatal assessment and treatment counseling.
据报道，在围产期缺氧缺血性损伤后患有新生儿脑病的早产或足月新生儿中，总同型半胱氨酸（tHcy）水平升高，以及C677T和A1298C亚甲基四氢叶酸还原酶（MTHFR）基因多态性存在。本研究调查了tHcy和MTHFR基因多态性以及其他后天危险因素对晚期早产和足月婴儿群体中经头颅超声扫描（cUS）检测到的脑白质异常（WMA）发生的因果作用。该研究共招募了171名新生儿（81名男性，占47.4%），其中45名（26.3%）出生时孕周<37周，126名（73.7%）出生时孕周≥37周。cUS在36/171名新生儿（21.1%）中检测到主要的WMA模式，主要表现为脑室周围白质信号异常以及轻度至中度脑室周围白质体积减少伴脑室扩张（6/36，16.6%）。结果显示，WMA取决于tHcy水平（P<0.014）、较低的孕周（P<0.000）、1分钟（P<0.000）和5分钟（P<0.000）时较低的阿氏评分，以及1298AC和677CT/1298AC基因型（P<0.000和P<0.000）。总之，后天和遗传易感性产前因素均与不良新生儿结局和WMA显著相关。A1298C基因多态性的作用在产前评估和治疗咨询中可能需要考虑。
