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The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominant on females. About 94% of cases with 18q deletion syndrome appearance are de novo, and the remaining 6% are the inherited from a parent carrying a balanced chromosomal translocation. We present the case of a 35-year-old female who was admitted in our Unit for a second ultrasound opinion after being diagnosed at the second trimester scan at gestational age of 21 weeks of pregnancy with multiple brain and heart malformations, having the recommendation for fetal magnetic resonance imaging (MRI). Further investigations included genetic analysis and pathological examination. Major malformations diagnosed and confirmed were agenesis of the corpus callosum, ventriculomegaly with dilated fourth ventricle, partial agenesis of vermis, bilateral anophthalmia with wide nasal base and left cleft lip. Additional, cardiac malformation, with an important ventricular septal defect and overriding aorta were noted. The results of the microarray analysis showed an abnormal fetal karyotype with a loss of 30.5 basis identified in the long arm of chromosome 18. Although most of the cases of 18q deletion are sporadically or de novo, could be cases where the possible existing syndromes can be inherited from a healthy or mild affected parent. Therefore, in order to establish the recurrence risk, parental karyotypes are recommended.

Described as a rare anomaly of the placenta, with a reported incidence of 0.02%, mesenchymal dysplasia is a benign condition characterized by placentomegaly, grape-like vesicles and by microscopic features resembling those of a molar pregnancy, such as hydropic villi, cistern formation and dysplastic blood vessels. We report a rare case of placental mesenchymal dysplasia diagnosed in a pregnancy with early symmetric fetal intrauterine growth restriction and a normal karyotype. Based on this case report, we discuss the particularities of this condition, emphasizing the ultrasonography and histopathological findings.

Polycythemia vera (PV) is a rare chronic myeloproliferative neoplasm which represents an additional thrombotic factor in pregnancy. PV may be difficult to diagnose, particularly as its incidence is extremely uncommon among young women. The main diagnostic method involves a bone marrow biopsy, and high hemoglobin and platelet counts are usually indicative of the condition, after excluding other more frequent pathologies. PV is associated with a high risk of thrombosis, particularly in pregnancy, and requires anti-platelet treatment. At present, only a limited number of PV cases in pregnancy have been reported in the literature, at least to the best of our knowledge, with the largest case series being a retrospective study that included 25 pregnancies in 15 women. The present study describes the case of a patient diagnosed with JAK2-positive PV and also discusses this rare condition with particular focus on the following: i) The management of PV in pregnancy along with the additional pathologies in this specific case; and ii) the particularities of the pregnancy course. By identifying women suffering from PV superimposed by other possible procoagulant factors and applying the latest standard in healthcare, fetal and maternal prognosis may be significantly improved.

Background Inherited (hereditary) thrombophilia is a genetic disorder that affects coagulation, being responsible for more than 60% of idiopathic (spontaneous or unprovoked) thromboembolic events. Association of inherited thrombophilia with pregnancy increases the risk of thromboembolic disease, and it may be related to many complications, such as preeclampsia, recurrent miscarriage intrauterine growth restriction, early detachment of placenta, and prematurity. Areas of uncertainty Interpretation of a positive test for thrombophilia in pregnant women is difficult because they have many natural changes in the coagulation system. Genetic diagnosis of thrombophilia, after a thrombotic event or during a pregnancy complication, has a major importance, not only to define its etiology but also to determine the duration of anticoagulant treatment and risk stratification for prophylaxis treatment. Data sources Literature search was performed using electronic database (PubMed) between April 1981 and November 2018. We used different keywords and MeSH terms to generate the most relevant results related to the inherited thrombophilia and its impact on pregnancy. Results Screening for inherited thrombophilia in young women is recommended in case of personal history of venous thromboembolism, first-degree relatives with a history of high-risk thrombophilia, or personal history of second-trimester miscarriage. Decision to recommend thromboprophylaxis with anticoagulant treatment in pregnant women with inherited thrombophilia is determined by history of venous thromboembolism, type and associated risk of inherited thrombophilia, and presence of additional risk factors. Low-molecular-weight heparins are the preferred agents for prophylaxis in pregnancy, while the doses vary depending on thrombophilia type, personal history, and associated risk factors. Conclusions Association between 2 procoagulant conditions, inherited thrombophilia and pregnancy, has an important impact for the mother and fetus. This review will summarize the impact of each inherited prothrombotic factor on cardiovascular and pregnancy outcomes and will discuss the role of anticoagulation treatment for women diagnosed with inherited thrombophilia.

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.

Human T-lymphotropic virus (HTLV) is considered to be the most highly oncogenic existing virus, being the cause of several fatal diseases such as adult T cell leukemia-lymphoma (ATL) and HTLV-I-associated myelopathy (HAM). The main transmission methods are unprotected sexual intercourse, vertical transmission and breastfeeding and direct exposure to infected blood or tissue. The identification of infected mothers prior to delivery is a highly important step in preventing mother to child transmission. Universal antenatal screening for HTLV is not recommended in Romania, although there are sufficient data demonstrating the risk of vertical transmission. We present the case of an HTLV-1-infected pregnant woman, with an aim to highlight: i) points of strategy for the management of HTLV during pregnancy; ii) the particularities of the course of pregnancy; and iii) the aspects that show the importance of knowing the status regarding the HTLV infection antepartum. The case was particular due to the ascendant proviral load during the pregnancy period, which led to the initiation of antiretroviral therapy and the particular pregnancy outcome with preterm rupture of membranes and fetal growth restriction. According to current recommendations, pregnant women infected with HTLV-1 should be advised to refrain from donating blood, body organs, or other tissues. There is no evidence of the number of individuals infected with this virus in Romania at present, and the diagnosis can only occur by chance. A specific treatment or immunization for HTLV infection does not currently exist, thus preventive methods are the only tool to reduce the prevalence and mortality of this infection.

Adolescent pregnancies are associated with a high number of risks for the newborn and mother. Hence, an increased number of emergency caesarean extractions are performed in this group of patients. The aim of this study was to analyze the pregnancy-related conditions, the way of delivery and the neonatal outcome of all the patients who delivered in the Department of Obstetrics and Gynecology of University Emergency Hospital in Bucharest, a tertiary unit in Romania in a period of 5 years. An observational, retrospective study was performed on a group of 686 patients, aged 12 to 19 years, who delivered in the Department of Obstetrics and Gynecology of University Emergency Hospital in Bucharest, between January 1, 2014 and December 31, 2018. The pregnant women were divided into two age groups. In the first group were pregnant patients aged under 18 years, and in the second group pregnant adolescents between 18 and 19 years. Whether the patients underwent prenatal screening was analyzed. Furthermore, the age of the patients, the rate of caesarean extraction and vaginal birth and the obstetrical complications were evaluated and compared. The outcome of the newborns was assessed based on Apgar score at 1 min and birth weight. Regarding the results, 464 of the 686 patients did not undergo any medical visits during pregnancy. In total, 52.76% of the patients delivered by caesarean section. The most frequent indications for caesarean extraction, in both analyzed groups, were Cephalo-pelvic disproportion, fetal distress and uterine scar after caesarean section. The lack of specific protocols regarding the ante-, peri- and post-natal management of adolescents is probably the cause of the alarmingly increasing number of patients pertaining to the group who deliver by caesarean section.

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.

Ankle fracture is one of the most common fractures in adults and among pregnant women. In pregnancy, the treatment must be prompt because of the risks and complications that could involve both mother and fetus. In this article, we reported the management of a patient with a bimalleolar fracture in pregnancy, its treatment, and evolution.

Endometriosis is a gynecological estrogen-dependent disease, characterized by the presence of active endometrial tissue, represented by glandular epithelial and stromal cells, outside the uterine cavity. There have been described three types of endometriosis: peritoneal superficial endometriosis, ovarian endometriomas, and deep infiltrating endometriosis (DIE). DIE is deffined from a histologically perspective as a lesion that extends more than 5 mm into the peritoneal space or which affects the wall of the pelvic organs. Endometriosis of the bladder is considered to be a form of deeply infiltrating endometriosis. The relation with infertility involves multiple and complex mechanisms. It is estimated that over half of the patients affected by this condition are subfertile. Many women with either minimal, mild or severe endometriosis experience difficulties in conceiving or maintaining a pregnancy. We report the case of a women diagnosed with a severe form of infiltrating endometriosis, with endometrioma in the bladder, who obtained a pregnancy and delivered in the 39 week of gestation by caesarean section and had a good evolution.

Metastatic colorectal cancer during pregnancy and postpartum is rather rare, but it represents major diagnostic and therapeutic challenges for obstetricians and surgeons. Cancer itself rarely affects the placenta or growing baby directly. However, metastatic disease is much more common than in nonpregnant patients and detecting cancer while pregnant can be complicated for both the mother and the health care team. In this article, we report a case of moderately differentiated colon adenocarcinoma in pregnancy that was diagnosed in an advanced stage, implying a complex diagnostic and therapeutic approach. The classic histological and immunohistochemical (IHC) study on this case reveals that tumorous areas have lost goblet cells and, implicitly, mucus; also, there are absent estrogen and progesterone receptors, possible causes of neoplasm in pregnancy, the rate of tumor proliferation is increased, the IHC reaction that highlights the protein responsible for cytoplasmatic anchoring of cadherins is intense positive, and the enzyme responsible for inflammation and pain is increased in these areas.

The spectacular evolution of the ultrasound equipment and techniques has allowed the assessment of the fetal heart increasingly earlier during the gestation, as well as the diagnosis of the fetal abnormalities in the first trimester of pregnancy. Transvaginal ultrasound and transabdominal ultrasound are used in early fetal echocardigraphy. Studies have shown that the heart defects diagnosed early in gestation are more complex and have a high degree of association with chromosomal abnormalities, compared to those diagnosed in the second trimester of pregnancy. There are many studies on the correlation between the increase in the nuchal translucency (NT) and congenital heart defects, NT being one of the most frequently studied and efficient screening parameters in maternal-fetal medicine. The morphology of the umbilical cord can be assessed in the first trimester of pregnancy by colour Doppler examination. Numerous anomalies associated with single umbilical artery are described. The principles of fetal echocardiography in the first trimester are similar to those of the morphological examination in the second trimester of pregnancy, with certain peculiarities and differences. The complete examination of the fetal heart, with minimal false results, can be done under the conditions of a trained and experienced examiner within the range of 12-13 gestational weeks. The examination route must be adapted to the particularities of the case. Early fetal echocardigraphy should be recommended only in the presence of a precise medical indication.

Before the use of ultrasound, many ovarian tumors remained undiagnosed until cesarean section oruntil they became symptomatic. Now, many symptomatic or non-symptomatic adnexal tumors arediagnosed by ultrasound during pregnancy follow-up.In most cases, the adnexal tumors discoveredduring pregnancy are benign with a maximum diameter of 5 cm. Approximately 70% of the cysticadnexal tumors identified in the first trimester resorb spontaneously until the beginning of thesecond trimester (usually those are functional cysts). Persistent adnexal tumors larger than 5 cmare generally mature teratomas (dermoid).In this case, at the emergency room a 34 year-old-women came with almost 20 weeks pregnancy, accusing acute abdominal pain, nausea andvomiting. One week before, the patient went for a routine ultrasound for pregnancy and the doctordiscovered a giant tumor larger than 15 cm (due to the size it could not be measured) with fluidcontent. Two days before the symptoms, the patient went for an abdominal MRI where a voluminouspelvic-abdominal cyst with almost 30 cm in diameter was discovered. Differential diagnosis:ovarian torsion or ruptured cyst complicating pregnancy. What is the correct diagnosis and what isto be done since there is a 20 weeks pregnancy?

A pregnancy becomes at high-risk when the life of the mother or the fetus is becoming fragile. Nowadays, many health problems come to different women before pregnancy and then extended during and after pregnancy. Health problems can occur before a woman becomes pregnant or during pregnancy. We report the management of a 48 -year- old female patient with pregnancy obtained via in vitro fertilization with the use of donor oocytes and prophylactic transabdominal cerclage for history of cervical amputation, diagnosed with gestational diabetes mellitus. During the 38 week of pregnancy she delivered by cesarean section, a healthy fetus.

Cystic cervical hygroma or cervical cystic lymphangioma is a congenital benign disease of the lymphatic system that is characterized by the accumulation of lymph in the jugular lymphatic sacs of the nuchal region. The factor that causes this pathology is not clarified yet but the physiopathological mechanism seems to be multifactorial. The incidence and prevalence of cervical hygroma are increased in patients with Turner syndrome, Down syndrome, Klinefelter syndrome, Edwards syndrome, Patau syndrome, Noonan syndrome, pterygium syndrome, Cantrell pentalogy, Fryns syndrome, Apert syndrome, Pena-Shokeir syndrome and achondroplasia. The gold standard method in establishing the antenatal diagnosis is ultrasonography, a non-invasive and low-cost procedure. We report four cases of fetuses who were diagnosed antepartum with cervical hygroma in the Department of Obstetrics and Gynecology of the University Emergency Hospital in Bucharest, Romania. Two products of conception were send to the Department of Anatomy of the "Carol Davila" University of Medicine and Pharmacy, Bucharest, for an extensive morphological analysis. Cervical cystic hygroma is a congenital condition of variable expression in terms of both morphology and chronology. A complete ultrasound examination, performed by an experimented specialist in maternal-fetal medicine is essential in establishing the diagnosis of cervical hygroma. Screening for aneuploidies, between the 11th and 14th weeks of pregnancy is also mandatory due to the frequent association between cervical hygroma and congenital anomalies.

The incidence of fetal growth restriction is variable, being known that is more frequent in resource-limited countries. The mechanism of fetal growth restriction is considered to be multifactorial, resulting from a combination of maternal, placental and fetal factors, the uteroplacental insufficiency being the dominant cause. Our purpose in this study was to determine the impact and the incidence of various maternal factors encountered among cases with fetal growth restriction delivered at term. The studied parameters were: the birth weight, the sex of the newborn, the way of delivery, the Apgar score at one minute, the maternal age, the maternal gestation and parity, the presence of presentation dystocia, the pregnancy monitoring by specialist, the presence of infectious factor, the presence of abnormal placental insertion or umbilical cord abnormalities, the status of the fetus and the presence of pregnancy-induced hypertension, preeclampsia or eclampsia. Results. During the 3-year period of the study, there were registered 12987 births in our hospital. The incidence of newborns with low birth weight at term was 1.5%. The average weight at birth was 2302 grams, with the lowest value 1750 grams, and the female fetuses were more affected (57.6%). The incidence of placental condition within the studied group was only 2%; also, the pregnancy-induced hypertension was present only in 6% of cases. Conclusion. Fetal growth restriction requires an accurate diagnosis with a clear distinction of constitutional small fetuses from the abnormal small ones. Ultrasound monitorization is mandatory for the diagnosis and the assessment of the fetal status

Backround Prolonged pregnancy is defined as any pregnancy exceeding 294 days or more. It is now well known that prolonged pregnancy is associated with an increased risk of perinatal mortality and morbidity, both maternal and fetal, particularly in intrauterine growth restricted fetuses. Material and methods We analysed in a retrospective study all births complicated by intrauterine growth restriction of all births in the period 2010–2012. Criteria for inclusion in the study were represented by the diagnosis of intrauterine growth restriction and prolonged pregnancy. Results Rates of transient tachypnea, hypoxia, neonatal apnea, sepsis, thrombocytopenia and hypoglycemia were higher in the postdated growth restricted newborns. An increased frequency of children who needed intensive care after birth, a longer period of hospitalisation and a higher frequency of oligohydramnios were observed in patients who associated both pathologies. Conclusions Chronologically prolonged pregnancies associated with intrauterine growth restriction represent a pathology that requires close monitoring in order to anticipate possible materno-fetal complications.