Portuguese versus Fenton Curve: Which one better explains maternal and neonatal outcomes in Portuguese women with gestational diabetes?

BACKGROUND AND AIMS: Growth charts are commonly used to identify foetal growth alterations, playing an important role as extreme growth centiles correlate with worse foetal and neonatal outcomes. This study aim was to compare birthweight classification (small for gestational age (SGA), adequate for gestational age and large for gestational age (LGA)) from women with gestational diabetes mellitus (GDM) by applying the population-based growth chart (Fenton Curve) and the standard chart customised for our country (Portuguese Curve). Moreover, we compared obstetric and neonatal outcomes according to birthweight classification between these curves. METHODS: A multicentre observational study with prospectively collected data from 19,470 pregnant women diagnosed with GDM (30 Portuguese institutions) was conducted. RESULTS: The proportion of SGA neonates was higher with Fenton Chart than with Portuguese standard chart (12.7% vs 10.9%) and the prevalence of LGA was higher using the Portuguese Chart (4.1%vs 10.9%). Statistically significant differences in the classifications given by the two curves and for maternal/neonatal outcomes were found. The Area Under the Curve and Akaike Information Criterion pointed out to a better correlation between weight classification of the Portuguese Curves and the majority of expected maternal and neonatal outcomes: gestational hypertension, preeclampsia, hydramnios, vaginal dystocic labour, hyperbilirubinemia, respiratory distress syndrome, trauma from delivery, admission in neonatal intensive care unit, prematurity and neonatal morbidity. CONCLUSION: Our study highlights the importance of having a standard birthweight curve specifically designed for each population. Neonates' weight classification carries prognostic implication and misclassification could lead to potential mistreatment or overtreatment.

HbA1c as a predictor of postpartum diabetes mellitus after gestational diabetes mellitus.

AIMS: Women diagnosed with Gestational Diabetes Mellitus (GDM) should be evaluated postpartum with an Oral Glucose Tolerance Test (OGTT). Nevertheless, women frequently fail to it. We intend to evaluate the performance of third trimester HbA1c in the prediction of postpartum diabetes mellitus (PDM). METHODS: We conducted a retrospective study of 10245 women with GDM based on the National Registry of GDM. A receiver-operating characteristic (ROC) curve was plotted to evaluate the diagnostic performance of third trimester HbA1c in PDM prediction. RESULTS: The mean third trimester HbA1c level was 5.81% (SD 0.69%) in women who developed PDM, 5.40% (SD 0.52%) in women with pre-diabetes and 5.21% (SD 0.43%) in women with normal glucose tolerance in postpartum OGTT, with statistically significant differences (p < 0.0001). As to the ROC curve ability to predict PDM was fair, with an optimal cut-off point of HbA1c of 5.4%. Women presenting HbA1c values ≥ 5.4% were 6.1 times more likely to develop PDM. CONCLUSIONS: A third trimester HbA1c level ≥5.4% is associated with a significant higher risk of PDM (p < 0.0001). It could be used as a reliable tool for screening women with GDM and detect who will benefit the most from a close follow-up after pregnancy.

Benefit of insufficient gestational weight gain in obese women with gestational diabetes mellitus: A multicenter study in Portugal.

BACKGROUND: Both obesity and gestational diabetes mellitus (GDM) are independent risk factors for adverse maternal and fetal outcomes. The Institute of Medicine (IOM) recommends different targets for an adequate gestational weight gain (GWG), depending on the prepregnancy body mass index, but they have been questioned. We aim to compare obese pregnant women with GDM according to GWG stratification (insufficient, adequate and excessive) with regard to maternal and neonatal outcomes and to clarify whether insufficient GWG can be associated with better outcomes. METHODS: A multicenter observational study with prospectively collected data of obese singleton pregnant women with GDM was conducted. GWG was expressed according to the 2009 IOM's recommendations. RESULTS: Of 4563 obese women with GDM, 34.5%, 30.4% and 35.2% registered insufficient, adequate and excessive GWG, respectively. Multiple logistic regression analysis revealed that women with insufficient GWG had lower odds of gestational hypertension, preeclampsia, caesarean section, large for gestational age (LGA) neonates and prediabetes in postpartum. Despite the higher incidence of small for gestational age (SGA) neonates, they were not associated with adverse outcomes. Women with excessive GWG had higher odds of caesarean section, macrosomic and LGA neonates. CONCLUSIONS: Insufficient GWG in obese women with GDM was beneficial due to better maternal and neonatal outcomes. In clinical practice, we should be strict with regard to weight gain in obese pregnant women with GDM and encourage a reduced GWG, provided an adequate fetal growth is guaranteed.

A Rare Case of Spontaneous Intrauterine Skull Fracture.

Skull fractures are rare in newborns and normally caused by maternal abdominal trauma or complicated deliveries. However, in rare cases, these fractures are found in neonates born after an uneventful pregnancy and delivery. We report a case of a primigravida who underwent cesarean delivery due to failure of descent and malpositioning of the fetal head. After birth, a right temporoparietal fracture and congenital muscular torticollis were diagnosed. The newborn's blood tests showed hypocalcemia and relative hypoparathyroidism. Both mother and newborn presented low vitamin D levels. Serial imaging control showed gradual resolution of the lesions, with the newborn being discharged at the 10th day of life with vitamin D supplementation. This is an interesting case because the combination of three conditions - maternal and fetal hypovitaminosis D, congenital torticollis and malposition of the cephalic pole during labor - may have synergistically contributed to a spontaneous intrauterine skull fracture.

As fraturas do crânio são raras em recém-nascidos, sendo mais comummente causadas por trauma abdominal ou como complicação do parto. Contudo, em casos mais raros, estas fraturas são encontradas isoladamente, sem associação a intercorrências da gravidez ou do parto. Apresentamos o caso de uma primigesta submetida a cesariana por ausência de descida da apresentação e mau posicionamento da mesma no canal de parto. Após o nascimento, foi diagnosticada fratura temporoparietal direita e torcicolo congénito. Analiticamente, o recém-nascido apresentava hipocalcemia e hipoparatiroidismo relativo. A díade mãe - recém-nascido apresentaram hipovitaminose D. Estudos imagiológicos seriados demonstraram resolução gradual das lesões, possibilitando a alta do recém-nascido ao 10º dia de vida com suplementação de vitamina D. Este caso é interessante porque se conjugam três condições ­ hipovitaminose D materna e fetal, torcicolo congénito e má orientação do polo cefálico ­ que, conjuntamente, podem ter contribuído para a ocorrência de fratura craniana intrauterina espontânea.

Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families.

OBJECTIVE: The purpose of this work was to characterize the Met34Thr variant in a group of patients with nonsyndromic hearing loss, in order to establish a genotype-phenotype correlation. METHODS: 13 cases from 4 unrelated Portuguese families were selected, in which one or more hearing-impaired members had Met34Thr variant. RESULTS: Met34Thr variant was identified in 11/13 cases. Two cases have an additional mutation - Val153Ile and 35delG. Hearing loss was mild in 2 patients (Met34Thr/Val153Ile; Met34Thr/Met34Thr), moderate in 3(Met34Thr/WT; Met34Thr/35delG; Met34Thr/Met34Thr), severe in 2 (2 Met34Thr/WT) and profound in 1 (Met34Thr/WT). Three individuals with Met34Thr had normal hearing thresholds. CONCLUSION: The present data corroborate the hypothesis that the Met34Thr variant is associated with mild-to-severe forms of deafness and that this variant seems to segregate with a dominant hearing loss with incomplete penetrance and a variable expression of the phenotype. However, other factors are likely to also have a pathologic effect.

Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.

OBJECTIVE: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. METHODS: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of "Hereditary Hearing-loss" in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. RESULTS: Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03-3.68) and 1 homozygous (95% Confidence Interval 0.01-1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03-3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11-12.8) were heterozygous and 7 (95% Confidence Interval 3.61-15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13-8.31) and 2 homozygous (95% Confidence Interval 0.13-8.31). CONCLUSION: The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss.