Pregnancy in fanconi anaemia with bone marrow failure: A case report and review of the literature

BACKGROUND: Fanconi anaemia is a rare inherited disease characterized by congenital abnormalities, progressive bone marrow failure and predisposition to malignancy. Successful pregnancies in transplanted patients have been reported. In this paper we will describe the pregnancy of a patient with Fanconi anaemia without transplantation. CASE PRESENTATION: A 34-year-old nulliparous woman with Fanconi anaemia was referred to our institution. Pregnancy was complicated by progressive pancytopenia and two severe infections. C-section was performed at 36 weeks. Both infant and mother are well. CONCLUSION: Successful pregnancy in a Fanconi anaemia patient with bone marrow failure is possible. The mode of delivery in patients with bone marrow failure should be determined by obstetric indications. The case highlights the safe outcome of the pregnancy with strict clinical and laboratory control by a multidisciplinary team

The 75-Gram Glucose Load in Pregnancy

OBJECTIVE—To investigate, in pregnant women without gestational diabetes mellitus (GDM), the relation among obstetric/demographic characteristics; fasting, 1-h, and 2-h plasma glucose values resulting from a 75-g glucose load; and the risk of abnormal neonatal anthropometric features and then to verify the presence of a threshold glucose value for a 75-g glucose load above which there is an increased risk for abnormal neonatal anthropometric characteristics. RESEARCH DESIGN AND METHODS—The study group consisted of 829 Caucasian pregnant women with singleton pregnancy who had no history of pregestational diabetes or GDM, who were tested for GDM with a 75-g, 2-h glucose load, used as a glucose challenge test, in two periods of pregnancy (early, 16–20 weeks; late, 26–30 weeks), and who did not meet the criteria for a GDM diagnosis. In the newborns, the following abnormal anthropometric characteristics were considered as outcome measures: cranial/thoracic circumference (CC/TC) ratio ≤10th percentile for gestational age (GA), ponderal index (birth weight/length3 × 100) ≥90th percentile for GA, and macrosomia (birth weight ≥90th percentile for GA), on the basis of growth standard development for our population. For the first part of the objective, logistic regression models were used to identify 75-g glucose load values as well as obstetric and demographic variables as markers for abnormal neonatal anthropometric characteristics. For the second part, the receiver operating characteristic (ROC) curve was performed for the 75-g glucose load values to determine the plasma glucose threshold value that yielded the highest combined sensitivity and specificity for the prediction of abnormal neonatal anthropometric characteristics. RESULTS—In both early and late periods, maternal age >35 years was a predictor of neonatal CC/TC ratio ≤10th percentile and macrosomia, with fasting 75-g glucose load values being independent predictors of neonatal CC/TC ratio ≤10th percentile. In both periods, 1-h values gave a strong association with all abnormal neonatal anthropometric characteristics chosen as outcome measures, with maternal age >35 years being an independent predictor for macrosomia. The 2-h, 75-g glucose load values were significantly associated in both periods with neonatal CC/TC ratio ≤10th percentile and ponderal index ≥90th percentile, whereas maternal age >35 years was an independent predictor of both neonatal CC/TC ratio ≤10th percentile and macrosomia. In the ROC curves for the prediction of neonatal CC/TC ratio ≤10th percentile for GA in both early and late periods of pregnancy, inflection points were identified for a 1-h, 75-g glucose load threshold value of 150 mg/dl in the early period and 160 mg/dl in the late period. CONCLUSIONS—This study documented a significant association, seen even in the early period of pregnancy, between 1-h, 75-g glucose load values and abnormal neonatal anthropometric features, and provided evidence of a threshold relation between 75-g glucose load results and clinical outcome. Our results would therefore suggest the possibility of using a 75-g, 1-h oral glucose load as a single test for the diagnosis of GDM, adopting a threshold value of 150 mg/dl at 16–20 weeks and 160 mg/dl at 26–30 weeks

FIGO (international Federation of Gynecology and obstetrics) initiative on fetal growth: best practice advice for screening, diagnosis, and management of fetal growth restriction

Fetal growth restriction (FGR) is defined as the failure of the fetus to meet its growth potential due to a pathological factor, most commonly placental dysfunction. Worldwide, FGR is a leading cause of stillbirth, neonatal mortality, and short- and long-term morbidity. Ongoing advances in clinical care, especially in definitions, diagnosis, and management of FGR, require efforts to effectively translate these changes to the wide range of obstetric care providers. This article highlights agreements based on current research in the diagnosis and management of FGR, and the areas that need more research to provide further clarification of recommendations. The purpose of this article is to provide a comprehensive summary of available evidence along with practical recommendations concerning the care of pregnancies at risk of or complicated by FGR, with the overall goal to decrease the risk of stillbirth and neonatal mortality and morbidity associated with this condition. To achieve these goals, FIGO (the International Federation of Gynecology and Obstetrics) brought together international experts to review and summarize current knowledge of FGR. This summary is directed at multiple stakeholders, including healthcare providers, healthcare delivery organizations and providers, FIGO member societies, and professional organizations. Recognizing the variation in the resources and expertise available for the management of FGR in different countries or regions, this article attempts to take into consideration the unique aspects of antenatal care in low-resource settings (labelled “LRS” in the recommendations). This was achieved by collaboration with authors and FIGO member societies from low-resource settings such as India, Sub-Saharan Africa, the Middle East, and Latin America

Perinatal and 2-year neurodevelopmental outcome in late preterm fetal compromise: the TRUFFLE 2 randomised trial protocol

Introduction: Following the detection of fetal growth restriction, there is no consensus about the criteria that should trigger delivery in the late preterm period. The consequences of inappropriate early or late delivery are potentially important yet practice varies widely around the world, with abnormal findings from fetal heart rate monitoring invariably leading to delivery. Indices derived from fetal cerebral Doppler examination may guide such decisions although there are few studies in this area. We propose a randomised, controlled trial to establish the optimum method of timing delivery between 32 weeks and 36 weeks 6 days of gestation. We hypothesise that delivery on evidence of cerebral blood flow redistribution reduces a composite of perinatal poor outcome, death and short-term hypoxia-related morbidity, with no worsening of neurodevelopmental outcome at 2 years. Methods and analysis: Women with non-anomalous singleton pregnancies 32+0 to 36+6 weeks of gestation in whom the estimated fetal weight or abdominal circumference is <10th percentile or has decreased by 50 percentiles since 18-32 weeks will be included for observational data collection. Participants will be randomised if cerebral blood flow redistribution is identified, based on umbilical to middle cerebral artery pulsatility index ratio values. Computerised cardiotocography (cCTG) must show normal fetal heart rate short term variation (≥4.5 msec) and absence of decelerations at randomisation. Randomisation will be 1:1 to immediate delivery or delayed delivery (based on cCTG abnormalities or other worsening fetal condition). The primary outcome is poor condition at birth and/or fetal or neonatal death and/or major neonatal morbidity, the secondary non-inferiority outcome is 2-year infant general health and neurodevelopmental outcome based on the Parent Report of Children's Abilities-Revised questionnaire. Ethics and dissemination: The Study Coordination Centre has obtained approval from London-Riverside Research Ethics Committee (REC) and Health Regulatory Authority (HRA). Publication will be in line with NIHR Open Access policy. Trial registration number: Main sponsor: Imperial College London, Reference: 19QC5491. Funders: NIHR HTA, Reference: 127 976. Study coordination centre: Imperial College Healthcare NHS Trust, Du Cane Road, London, W12 0HS with Centre for Trials Research, College of Biomedical & Life Sciences, Cardiff University. IRAS Project ID: 266 400. REC reference: 20/LO/0031. ISRCTN registry: 76 016 200

Nutrition in pregnancy and lactation: how a healthy infant is born

Maternal nutrition during pregnancy and lactation influences the growth and potential development of the fetus and contributes to the maturity of a healthy baby. The lack of sufficient calories, of macro- and micronutrients, can lead to deficiencies in building materials for the development and growth of the fetus: moreover there is growing evidence that the maternal nutritional status can alter the epigenetic state of the fetal genome, therefore alterations in nutrition during crucial periods of fetal development may result in developmental adaptations that permanently change the physiology, the metabolism of the offspring, and, as a consequence, predispose these individuals to diseases as adults. In this review we collected indications for the recommended intake of calories and nutrients for a healthy diet during pregnancy and lactation, also analyzing some nutritional choices that may increase the risk of nutritional deficiencies and the way to prevent them. Pregnancy-related dietary changes should begin prior to conception, with appropriate modifications throughout pregnancy and lactation, and appropriate supplementation of vitamins and minerals.   Proceedings of the 11th International Workshop on Neonatology and Satellite Meetings · Cagliari (Italy) · October 26th-31st, 2015 · From the womb to the adult Guest Editors: Vassilios Fanos (Cagliari, Italy), Michele Mussap (Genoa, Italy), Antonio Del Vecchio (Bari, Italy), Bo Sun (Shanghai, China), Dorret I. Boomsma (Amsterdam, the Netherlands), Gavino Faa (Cagliari, Italy), Antonio Giordano (Philadelphia, USA

The Impact of Autoimmune Disorders and Adverse Pregnancy Outcome

Autoimmune diseases are a group of heterogeneous disorders equally characterized by the same pathogenetic mechanism: an immunological reaction against self antigens promoted by antibodies, immuno-complex formation, and self-reactive T lymphocytes. Autoimmune diseases may be separated into organ-restricted diseases and systemic ones. The damage of single organs produced by antibodies focused against specific cellular antigens characterizes the first group of diseases, whereas the latter are produced by a systemic inflammatory process initiated by inappropriate and excess immune activation that leads to immuno-complex formation and deposition onto sensitive tissues. Since connective and vascular tissue are principally damaged in these disorders, systemic autoimmune diseases are more commonly known as “connective tissue diseases” (CTD) and include: systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, Sjogren syndrome, and others. Although they are considered as different from a pathogenetic point of view, they overlap in many aspects, such as general symptoms as fever and fatigue, chronical ongoing, steroid therapy. As patients suffering from CTD are predominantly young women between the ages of 20 and 40 years, which is the period of the highest childbearing potential, particular interest must be regarded to the impact that these diseases and their therapies have on pregnancy and, conversely, the effect of pregnancy on these disorders, which may have long-lasting implications for mothers and neonates. Adverse fetal outcomes, maternal disease flares, and drug potential teratogenic risk are the main reasons why women suffering from CTD and who are pregnant or intend to become pregnant are considered a high-risk population. These patients require integrated, interdisciplinary care, addressing every aspect of rheumatology, obstetrics, and neonatology to reduce maternal, fetal, and neonatal complications