No abstract available.
Fetal Macrosomia*

OBJECTIVETo study the growth of macrosomic infants, the incidence of overweight and the factors related to overweight at 18 months old.

METHODSEighty-four macrosomic infants without underlying diseases were enrolled in this study. Their growth was followed up regularly. Factors related to overweight at 18 months old were investigated.

RESULTSTwenty infants (24%) showed as overweight at 18 months old. More male infants were overweight than female infants (30% vs 11%; P<0.05). The overweight infants at 18 months old had a higher proportion of overweight at 6 months (80% vs 22%; P<0.01) and at 12 months old (80% vs 13%; P<0.01) than non-overweight infants at 18 months. The spearman correlation analysis demonstrated that weight-for-length Z score at 18 months old was positively correlated with birth weight and weight gain between 0 to 6 months, 7 to 12 months and 13 to 18 months (P<0.05). The strongest correlation was observed between weight gain form 0 to 6 months and weight-for-length Z score at 18 months old (r=0.597, P<0.01).

CONCLUSIONSMore attention should be given to the aspect of rapid weight gain in the first 6 months of life in macrosomic infants, especially males, to prevent obesity in early childhood.

Child Development ; Female ; Fetal Macrosomia ; physiopathology ; Follow-Up Studies ; Growth ; Humans ; Infant ; Infant, Newborn ; Male ; Overweight

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential variant in the proband. Candidate variant was verified by Sanger sequencing. The pathogenicity of candidate variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). RESULTS: The results of WES showed that the proband has harbored compound heterozygous variants of the DIS3L2 gene, namely c.2109delC and c.1829.c.1830insC, which were respectively inherited from her mother and father. The results were confirmed by Sanger sequencing. Based on the ACMG guidelines, the two novel variants were both predicted to be pathogenic (PVS1+PS2+PM2). CONCLUSION The compound heterozygous variants of the DIS3L2 gene probably underlay the Perlman syndrome in this patient. Above finding has enriched the spectrum of DIS3L2 gene mutations.
Exoribonucleases ; Female ; Fetal Macrosomia ; Genetic Testing ; Genomics ; Humans ; Mutation ; Whole Exome Sequencing ; Wilms Tumor

Perlman syndrome is a rare autosomal recessive congenital overgrowth syndrome caused by pathogenic variants of the DIS3L2 gene at 2q37 region. Clinically this syndrome is characterized by polyhydramnios, macrosomia, distinctive facial appearance, and renal dysplasia. Prognosis of the disease is poor, and survivors usually have mental delay and a high risk of developing Wilms tumor. At present, the pathogenesis of this disease is still poorly understood. This article intends to provide a review for this disease.
Female ; Fetal Macrosomia ; Humans ; Kidney Tubules, Proximal ; Pregnancy ; Syndrome ; Wilms Tumor

Objective: The objective of the study was to determine the effectiveness of myoinositol (MI) supplementation in the prevention of gestational diabetes mellitus (GDM) among high-risk patients. Materials and Methods: Comprehensive and systemic online searches were performed on PubMed, MEDLINE, Ovid, and Cochrane. Cross-referencing from related articles was also done. Only studies published in English were included in the study. We selected all randomized controlled trials on MI and singleton pregnant women with high risk for GDM. Data Collection and Analysis: Five randomized controlled trials were evaluated by two independent reviewers. For each comparison, the quality of evidence was assessed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Cochrane Collaboration tool. Review Manager 5.3 was used to generate the risk of bias evaluation and the analysis of the results. Main Results: The present study identified five randomized controlled trials involving 871 participants. The comparison of the studies showed a statistically significant reduction in the incidence of GDM in MI supplementation versus the control group (odds ratio [OR] = 0.32, 95% confidence interval [CI] = 0.19–0.53, P = 0.0001, Z = 4.36) by 68%. Similarly, there is a greater reduction in the incidence of fetal macrosomia among patients in the MI group than the controlled group (OR = 0.24, 95% CI = 0.07–0.78; P = 0.02, Z = 2.36) by 78%. However, there was no difference in terms of incidence of gestational hypertension (OR = 0.61, 95% CI = 0.19–2.01; P = 0.42, Z = −0.81), cesarean section (OR = 0.89, 95% CI = 0.65–1.22; P = 0.47, Z = 0.72), and neonatal hypoglycemia (OR = 0.35, 95% CI = 0.01–8.80; P = 0.53, Z = 0.63) outcomes. Conclusion MI supplementation taken at 4 g daily would decrease the incidence of GDM and fetal macrosomia. There was no statistically significant reduction in the risk of gestational hypertension, cesarean section, and neonatal hypoglycemia in the supplementation of MI.
Cesarean section ; fetal macrosomia ; gestational diabetes mellitus ; gestational hypertension ; myoinositol ; neonatal hypoglycemia

OBJECTIVE: To determine obstetric outcome in infants > or =4,500 g according to delivery mode. METHODS: Records of 271 mothers and infants weighing > or =4,500 g over a 11-year period (1993~2003) were retrospectively reviewed. Maternal and perinatal outcomes were compared in relation to delivery mode. RESULTS: The frequency of macrosomia ranged 0.38% in 4,500 g or more. Vaginal delivery was achievable in 78/271 (28.8%) of women allowed to labor, of which 71.2% were operative. In macrosomia frequency correlations to parity showed 33.9% (92 cases) in primiparous women, 66.9% (179 cases) in multiparous women. According to the type of delivery, cesarean section has proven to be the most popular mode. The cesarean section group had a higher incidence of maternal BMI (> 25 kg/m2). The frequency of diabetes, hypertension, low Apgar score at 5 and 10 minutes was similar in both groups. CONCLUSION: It would be appropriate to have definite diagnostic schemes and adequate choice of delivery method for macrosomia. Maternal height, weight, BMI (body mass index) may associated with fetal body weight and delivery mode.
Apgar Score ; Cesarean Section ; Female ; Fetal Macrosomia* ; Fetal Weight ; Humans ; Hypertension ; Incidence ; Infant ; Mothers ; Parity ; Pregnancy ; Retrospective Studies

BACKGROUND: Fetal weight is an important parameter to ensure maternal and child safety. The purpose of this study was to use three-dimensional (3D) limb volume ultrasound combined with fetal abdominal circumference (AC) measurement to establish a model to predict fetal weight and evaluate its efficiency. METHODS: A total of 211 participants with single pregnancy (28-42 weeks) were selected between September 2017 and December 2018 in the Beijing Obstetrics and Gynecology Hospital of Capital Medical University. The upper arm (AVol)/thigh volume (TVol) of fetuses was measured by the 3D limb volume technique. Fetal AC was measured by two-dimensional ultrasound. Nine cases were excluded due to incomplete information or the interval between examination and delivery >7 days. The enrolled 202 participants were divided into a model group (134 cases, 70%) and a verification group (68 cases, 30%) by mechanical sampling method. The linear relationship between limb volume and fetal weight was evaluated using Pearson Chi-squared test. The prediction model formula was established by multivariate regression with data from the model group. Accuracy of the model formula was evaluated with verification group data and compared with traditional formulas (Hadlock, Lee2009, and INTERGROWTH-21st) by paired t-test and residual analysis. Receiver operating characteristic curves were generated to predict macrosomia. RESULTS: AC, AVol, and TVol were linearly related to fetal weight. Pearson correlation coefficient was 0.866, 0.862, and 0.910, respectively. The prediction model based on AVol/TVol and AC was established as follows: Y = -481.965 + 12.194TVol + 15.358AVol + 67.998AC, R2adj = 0.868. The scatter plot showed that when birth weight fluctuated by 5% (i.e., 95% to 105%), the difference between the predicted fetal weight by the model and the actual weight was small. A paired t-test showed that there was no significant difference between the predicted fetal weight and the actual birth weight (t = -1.015, P = 0.314). Moreover, the residual analysis showed that the model formula's prediction efficiency was better than the traditional formulas with a mean residual of 35,360.170. The combined model of AVol/TVol and AC was superior to the Lee2009 and INTERGROWTH-21st formulas in the diagnosis of macrosomia. Its predictive sensitivity and specificity were 87.5% and 91.7%, respectively. CONCLUSION: Fetal weight prediction model established by semi-automatic 3D limb volume combined with AC is of high accuracy, sensitivity, and specificity. The prediction model formula shows higher predictive efficiency, especially for the diagnosis of macrosomia. TRIAL REGISTRATION ClinicalTrials.gov, NCT03002246; https://clinicaltrials.gov/ct2/show/NCT03002246?recrs=e&cond=fetal&draw=8&rank=67.
Birth Weight ; Child ; Female ; Fetal Macrosomia ; Fetal Weight ; Humans ; Pregnancy ; Prospective Studies ; Thigh/diagnostic imaging* ; Ultrasonography, Prenatal

Maternai diabetes is the most important known risk factor for development of fetal macrosomia. An attempt to study macrosomia and gestational diabetes was made using oral glucose tolerance test (OGTT) in early puerperium. Patients were divided into two groups: The macrosomia group was mothers who delivered largc fetuses over 4Kg. The control group was mothers who delivered normal weight fetuses (3.5-3.9Kg). The 75g OGTI' was done within 48 hours after delivery. The results were that 12% of the macrosomia group had abnormal glucose intolerance but only 2% of controi group showed an abnomal glucose level. Definite diabetes were not seen in either groups. In conclusion, if a glucose tolerance test has not been performed prenatally, the 75g oral glucose toleranre test has some usefulness within 48 hours postpartum in the macrosomia group which has the possibility of gestational diabetes.
Diabetes, Gestational ; Female ; Fetal Macrosomia ; Fetus ; Glucose ; Glucose Intolerance ; Glucose Tolerance Test* ; Humans ; Mothers ; Postpartum Period* ; Pregnancy ; Risk Factors

OBJECTIVETo understand the awareness rate of macrosomia related knowledge and influencing factors among pregnant women in Zhejiang province and provide evidence for the improvement of pre-gestational and prenatal care.

METHODSA face to face questionnaire survey was conducted among 1 512 pregnant women selected through multistage cluster random sampling from 20 counties (district) in Zhejiang. Macrosomia-related awareness and related factors were analyzed.

RESULTSA total of 1 494 valid questionnaires were analyzed, the awareness rate was 40.7% for macrosomia diagnostic criteria (95% CI: 38.2%-43.2%), 55.0% for the cause of macrosomia (95% CI: 52.4%-57.6%) and 62.4% for prevention related knowledge (95% CI: 59.9%-64.9%) and the awareness rate of both the cause and the prevention related knowledge was 49.0% (95% CI: 46.4%-51.6%). Multivariate logistic regression analysis showed that the third trimester of pregnancy (OR = 1.906, 95% CI: 1.128-3.221), urban residence (OR = 1.335, 95% CI: 1.014-1.756), educational level of junior college (OR = 2.474, 95% CI: 1.635-3.744) and educational level of regular college or above (OR = 2.072, 95% CI: 1.338-3.209), receiving health education about health pregnancy (OR = 1.936, 95% CI: 1.509-2.484) and self-learning about the knowledge of health pregnancy (OR = 2.065, 95%CI: 1.338-3.189) were the influencing factors to the awareness rate of macrosomia diagnostic criteria and prevention related knowledge of macrosomia among pregnant women. The awareness rate of the cause and prevention related knowledge of macrosomia was higher in older age group (OR = 2.103, 95% CI: 1.330-3.323).

CONCLUSIONAmong the pregnant women in Zhejiang, the awareness rate of macrosomia diagnostic criteria was less than 50%. Therefore, it was necessary to strengthen the health education during pre-gestational and gestational periods among reproductive women, especially the education about pregnancy health in rural area.

China ; epidemiology ; Female ; Fetal Macrosomia ; epidemiology ; Health Knowledge, Attitudes, Practice ; Humans ; Pregnancy ; Pregnant Women ; psychology ; Surveys and Questionnaires

Beckwith-Wiedemann Syndrome (BWS) is a rare congenital overgrowth disorder due to alterations in specific genes in chromosome 11p15. It has a variable clinical picture. Infants may exhibit a combination of the following characteristics: macroglossia, macrosomia, abdominal wall defects, ear creases or posterior helical pits, hypoglycemia, polyhydramnios and prematurity. Presented is a case of a 24-year-old gravida 3 para 2 (2002) who manifested with preterm labor and polyhydramnios. She delivered a preterm live baby girl who was diagnosed to have Beckwith-Wiedemann syndrome. The rarity of this condition, as well as the significant maternal and perinatal complications associated with it, is discussed in this paper.

Human ; Female ; Adult ; Infant Newborn ; Pregnancy ; Congenital Macroglossia ; Macroglossia ; Beckwith-wiedemann Syndrome ; Polyhydramnios ; Abdominal Wall ; Fetal Macrosomia ; Hypertrophy ; Chromosomes ; Hypoglycemia