Beckwith-Wiedemann Syndrome

The Beckwith-Wiedemann syndrome (BWS) is a complex congenital disorder with omphalocele, macroglossia, and gigantism as its most common neonatal features. However, in individual cases, the phenotypic expression of this condition is variable. Antenatal diagnosis in previously unsuspected cases depends upon the identification of a number of specific ultrasonic findings. We report a case in which the antenatal diagnosis of BWS was made, and review the previously described cases, noting the specific ultrasonic findings that suggest the correct in utero diagnosis.     

Effect of Maternal Factors and Fetomaternal Glucose Homeostasis on Birth Weight and Postnatal Growth

Objective:It is important to identify the possible risk factors for the occurrence of large for gestational age (LGA) in newborns and to determine the effect of birth weight and metabolic parameters on subsequent growth. We aimed to determine the effects of maternal weight, weight gain during pregnancy, maternal hemoglobin A1c (HbA1c), C-peptide and insulin as well as cord C-peptide and insulin levels on birth weight and postnatal growth during the first two years of life.Methods:Healthy, non-diabetic mothers and term singleton newborns were included in this prospective case-control cohort study. Fasting maternal glucose, HbA1c, C-peptide and insulin levels were studied. Cord blood was analyzed for C-peptide and insulin. At birth, newborns were divided into two groups according to birth size: LGA and appropriate for GA (AGA). Infants were followed at six-month intervals for two years and their length and weight were recorded.Results: Forty LGA and 43 AGA infants were included in the study. Birth weight standard deviation score (SDS) was positively correlated with maternal body mass index (BMI) before delivery (r=0.2, p=0.04) and with weight gain during pregnancy (r=0.2, p=0.04). In multivariate analyses, the strongest association with macrosomia was a maternal C-peptide level >3.85 ng/mL (OR=20). Although the LGA group showed decreased growth by the 6-month of follow-up, the differences between the LGA and AGA groups in weight and length SDS persisted over the 2 years of follow-up.Conclusion: The control of maternal BMI and prevention of overt weight gain during pregnancy may prevent excessive birth weight. The effect of the in utero metabolic environment on the weight and length SDS of infants born LGA persists until at least two years of age.     

妊娠糖尿病孕妇接受低血糖生成指数食物干预效果的系统评价

目的为研究低血糖生成指数食物干预妊娠期糖尿病的效果,对国外已发表的相关临床随机对照研究进行系统评价。方法检索MEDLINE等外文主要数据库,应用Rev.Man 5.2软件进行Meta分析,选用风险比(RR)作为效应量,绘制森林图。结果共获得符合标准的研究5个,对于母体的疗效方面,LGI干预减少胰岛素使用的合并RR值为0.67,95%CI[0.44~1.00],其结果虽趋向于得出保护性结论,但由于缺乏统计学意义,因此尚无法确证LGI干预可以减少胰岛素的使用。对于新生儿,LGI干预可减少巨大儿分娩,合并RR值为0.27,95%CI[0.10~0.71]。排除具有膳食纤维差异的试验后,对于胰岛素使用情况,合并RR值为0.69,95%CI[0.52~0.92],即"单纯"LGI干预也可以减少胰岛素的使用。进一步分析LGI伴随高纤维的研究显示,对于分娩巨大儿情况,各合并RR值为0.17,95%CI[0.04~0.71]。结论 LGI对GDM作用更直接地体现在减少高血糖的不良影响。有效的LGI干预主要发挥了直接的降血糖效果。     

常州出生巨大儿幼儿时期生长发育状况的研究

目的 对巨大儿和正常出生体重儿在婴幼儿期超重和肥胖的发生情况进行比较,以便采取积极有效的干预措施改善儿童的生长发育状况.方法 随机选择足月巨大儿145例和足月正常出生体重儿145例(对照组),进行体格测量及数据评价.结果 巨大儿组平均体重、平均身高1周岁时为11.27±1.24kg、78.64±2.62cm,2周岁时为14.01±1.69kg、91.10±3.18cm,2岁时身体质量指数为16.83±1.46 kg/m2,各指标均高于对照组,并有统计学差异(P<0.05);巨大儿组和对照组幼儿期超重和肥胖儿的发生率,1周岁时分别为17.24%和4.14%,χ2=13.039,P<0.05;2周岁时分别为11.03%和4.83%,χ2=3.825,P=0.05.巨大儿造成1岁幼儿超重和肥胖的风险是正常出生体重儿的4.83倍(P<0.05).结论 胎儿期的肥胖可影响至婴幼儿期,预防肥胖症的发生应该从孕前开始,应注重出生后第1年的喂养方式,提倡母乳喂养,以降低后期肥胖的发生率.     

孕妇体重指数变化对新生儿体重的影响

目的：探讨孕妇体重指数变化对新生儿体重的影响。方法：对近2年来我院产检并分娩的447例初产妇的妊娠初期体重指数、妊娠37周后体重指数及其新生儿体重,应用Logistic回归分析评估其与巨大儿的关系。结果：496例产妇中,共有447例用于分析,检出巨大儿56例,检出率为12.5%。与非巨大儿母亲孕期体重指数增量〉6者的构成比（90/391,23.0%）相比,巨大儿母亲孕期体重指数增量〉6者的构成比（43/56,76.8%）较高（P〈0.01）。Logistic回归分析显示,孕期体重指数增量〉6是巨大儿的危险因素（RR=11.016,95%CI为5.650～21.477,P〈0.01）,而年龄和孕次对巨大儿发生率的影响不明显。结论：初产妇孕期体重指数增量〉6与巨大儿有关。