Umbilical cord abnormalities are not rare, and are often associated with structural or chromosomal abnormalities, fetal intrauterine growth restriction, and poor pregnancy outcomes; the latter can be a result of prematurity, placentation deficiency or, implicitly, an increased index of cesarean delivery due to the presence of fetal distress, higher admission to neonatal intensive care, and increased prenatal mortality rates. Even if the incidence of velamentous insertion, vasa praevia and umbilical knots is low, these pathologies increase the fetal morbidity and mortality prenatally and intrapartum. There is a vast heterogeneity among societies’ guidelines regarding the umbilical cord examination. We consider the mandatory introduction of placental cord insertion examination in the first and second trimester to practice guidelines for fetal ultrasound scans. Moreover, during the mid-trimester scan, we recommend a transvaginal ultrasound and color Doppler assessment of the internal cervical os for low-lying placentas, marginal or velamentous cord insertion, and the evaluation of umbilical cord entanglement between the insertion sites whenever it is incidentally found. Based on the pathological description and the neonatal outcome reported for each entity, we conclude our descriptive review by establishing a new, clinically relevant classification of these umbilical cord anomalies.

Anencephaly is a severe malformation of the central nervous system (CNS), being one of the most common types of neural tube defects. It is defined as total or partial absence of the calvarium , with absence of the brain. Anencephaly has an incidence of 1 to 5 in every 1000 births, and the mortality rate is 100% during intrauterine life or within hours or days after birth. The etiology of anencephaly remains unclear, but various maternal-related environmental and genetic risk factors have been reported, which include diabetes, obesity, exposure to different drugs or toxins, genetic polymorphisms and mutations, as well as positive family history for neural tube defects. One of the most important nutritional factors in the development of anencephaly is folate deficiency. Methylenetetrahydrofolate reductase ( MTHFR ) gene codes the enzyme involved in the intracellular metabolism of folic acid; the 677C-T polymorphism of this gene causes the thermolability of the enzyme and decreased enzymatic activity, which is also dependent of folate plasmatic level. Etiopathogenesis of anencephaly includes several mutations in various other genes, such as: platelet-derived growth factor receptor alpha ( PDGFRA ), cadherin epidermal growth factor (EGF) laminin G (LAG) seven-pass G-type receptor 1 ( CELSR1 ), Vang-like 1 ( VANGL1 ) and Vang-like 2 ( VANGL2 ), the last two being involved in the process of neurulation. Screening tests include maternal serum alpha-fetoprotein level and ultrasound (US) examination. During the first trimester US screening, anencephaly is now detected in all cases, but in order to decrease the complication rate of pregnancy termination, the diagnosis should be established as soon as possible, during the pregnancy confirmation US. We conclude that given that anencephaly is a severe malformation of the CNS, morphological characterization could improve the screening by US that is mandatory in the first trimester in order to plan the best, safe and early management.

Systemic candidiasis is a frequent complication in neonatal units, but congenital systemic candidiasis is an unusual diagnosis, observed in both full-term and preterm infants, with less than 50 cases reported to date. Congenital candidiasis presents with a wide spectrum of symptoms, ranging from diffuse skin eruptions to severe systemic disease, resulting in fetal demise or early neonatal death. Although management guidelines have been published almost two decades ago, due to the rarity of this type of infection, conclusive recommendations are difficult to establish, since they are based on anecdotal experience. In this paper, we present a comprehensive meta-analysis of the current scientific knowledge regarding congenital candidiasis, which spans 54 years and includes a total of 44 cases.

Breast cancer remains the most common cause of morbidity and mortality by cancer in females worldwide, even though it is largely preventable through population screening. Despite notable progress in the last years in the EU, breast cancer screening programs still maintain wide variations among countries and socio-economic groups. This statistical review aimed to investigate the breast cancer-related health gaps in Romanian women compared to the average EU female population after 10 years of accession (2007)(2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016). We evaluated breast cancer-related deaths, age-standardized mortality rates and contribution of breast cancer to life expectancy. Trends and percentage changes were compared between Romania and EU-27 for breast cancer, all cancer and all causes of mortality. We found a higher increase of breast cancer deaths in Romania, an increasing trend of mortality (opposite to EU) and a contribution to life expectancy at birth that increased gradually from 0.45 to 0 48 years. All these health gaps compared to EU are aggravated by the fact that no population screening for breast cancer is organized in the country. The opportunities for organizing such a program are consistent, but they should be increased in the future, in order to control the health gap between Romania and EU.

Thrombophilia is a group of genetical disorders that cause blood to clot abnormally. Thrombophilia is linked to recurrent pregnancy loss, foetal growth restriction, late miscarriages, stillbirth and preeclampsia. Clinicians usually apply the term thrombophilia only to patients with atypical thrombosis. A successful outcome of pregnancy requires an efficient uteroplacental circulation. Since this system may be compromised by disorders associated with a prothrombotic state, it was postulated that maternal thrombophilia might be a risk factor for preeclampsia and intrauterine growth retardation. The study included 459 pregnant women with gestational ages ranging from 14 weeks to 28 weeks and the patients in the study were tested for hereditary thrombophilia. The type of thrombophilic mutation most common found was the MTHFR mutation (25.7%), followed by the prothrombin gene mutation (20.9%) and the Leiden factor V mutation (15.7%). Also 15.03% patients had been diagnosed with preeclampsia and 6.75% of the pregnant women had IUGR fetuses.