Background Birth defects are common in human development. Approximately 3% of newborns have a recognizable major anomaly, and at least 5% will ultimately be diagnosed with a congenital defect. Because of improvements in other areas of prenatal care, birth defects are the single most common cause of perinatal mortality in developed countries, accounting 20 to 25% of perinatal deaths. Now, many genetic and other disorders can be diagnosed early in pregnancy. Screening examinations during pregnancy are an essential part of prenatal care. Among the various screening tests that are now offered to pregnant women, ultrasound (US) has the broadest diagnostic spectrum. There is no modality that can detect as many abnormalities during pregnancy as US. A priority goal in screening is the early detection of major fetal anomalies, which are defined as malformations that affect fetal viability and/or quality of life. During the past 10 years, some multicentric studies in Europe and USA show the successfulness of US diagnostics in detecting congenital abnormalities, even in women with low-risk pregnancy. Definition of fetal anomalies Any deviation from the normal range during morphogenesis, constitutes an anomaly. Major anomalies are malformations that affect viability and/or the quality of life and require intervention, and minor anomalies are malformations that are definitely present, but are minimal and usually have no functional significance (e.g. ear tags). Incidence data on major congenital anomalies vary considerably, depending on the type of detecting system used. The passive detection system reports 2 to 3% of newborns, meanwhile the active detection system, in which newborns are systematically examined by trained obstetricians, reports the incidence of congenital defects in 7.3% of all newborns. Etiology About 20% of anomalies in live-born infants are based on a defective gene, 10% are due to chromosomal abnormalities and 10% are mainly due to exogenous injury to the conceptus. Some 60% of all congenital anomalies are indeterminate or multifactorial causes (hereditary factors and environmental influences). Ultrasound can detect about 74% of major birth defects and possibly a higher number, when conducted by a well-trained specialist. We have demonstrated in this paper some fetal anomalies found by US during our practice in Kosovo. There are some different anomalies of almost all systems of the organs of the fetal body, some of them more frequent and some very rare anomalies. Conclusion Ultrasound diagnostic is a very useful method for evaluating the fetal health, fetal anomalies, anomalies of placenta and amniotic fluid as well as umbilical cord. How to cite this article Sylejmani S, Syla B, Shala S. Diagnosis of Congenital Anomalies during Routine Fetal Surveillance. Donald School J Ultrasound Obstet Gynecol 2015; 9(2):159-174.
Background: Congenital abnormalities account 20 to 25% of perinatal deaths. Now, many genetic and other disorders can be diagnosed early in pregnancy. Screening examinations during pregnancy are an essential part of prenatal care. Among the various screening tests that are now offered to pregnant women, ultrasound (US) has the broadest diagnostic spectrum. There is no modality that can detect as many abnormalities during pregnancy as US. A priority goal in screening is the early detection of major fetal anomalies, which are defined as malformations that affect fetal viability and/or quality of life. During the past 10 years, some multicentric studies in Europe and USA show the successfulness of US diagnostics in detecting congenital abnormalities, even in women with low-risk pregnancy. The term sonoembryology designates the description of the embryonic anatomy, the normal anatomic relations and the development of abnormalities as visualized by ultrasound. To confirm the presence of normal anatomy or to make the diagnosis of an anomaly, we need knowledge of the normal embryonic development, including the appearance of the normal embryo.
Background: Our aim was to present our experience in diagnosing and managing the ectopic pregnancy, developing in a previous Cesarean section scar. Methods and Results: Between 2005 and 2008, six patients were diagnosed with Cesarean scar pregnancy, with transvaginal and Color flow Doppler ultrasound. Five of them were diagnosed during routine scans for confirmation of pregnancy (5 + 2/7weeks, 6 + 1/7weeks, 6 + 4/7week, 7 + 3/7weeks, 5 + 4/7weeks), and one of them because of vaginal hemorrhage (8 + 4/7weeks). Ultrasound demonstrated gestational sac or viable embryo, in the region of the previous Cesarean scar. All the patients had at least one previous Cesarean section. Five of them, after diagnosis, underwent transcervical aspiration of the gestational sac under ultrasound guidance. One of them (5 + 4/7weeks GA) decided to undergo medical treatment and follow-up scans. Firstly, she had mifepriston + misoprostol treatment. She had normal bleeding pattern during six days. In the follow-up scan (day 7), ultrasound showed a viable embryo (6 + 5/7weeks). Then, she had methotrexhate + misoprostol treatment. On day 12, the scan showed again a viable embryo (7 + 4/7weeks). After that, the patient underwent transcervical aspiration under ultrasound guidance. From six patients, in four of them, termination of pregnancy needed no more interventions. In one of them, the patient went again through transcervical aspiration under ultrasound guidance because of residua. In one of them (6 + 2/7weeks), it ended with hysterectomy due to massive bleeding. Conclusions: Transvaginal ultrasound is a reliable tool for early diagnosis of ectopic pregnancy in Cesarean scar. We would advise termination of pregnancy during the first trimester, with aspiration under ultrasound guidance, better than tempting medical treatment.
The [W(CO)5]‐catalyzed cycloisomerization reaction of 1,1‐disubstituted 4‐pentyn‐1‐ol derivatives has been studied from both, an experimental and theoretical point of view. Three different catalytic systems have been evaluated {preformed [(thf)W(CO)5], [W(CO)6]/excess Et3N, and [W(CO)6]/2 mol % Et3N]. We have found that the reaction proceeds to give the formal endo‐ or exo‐cycloisomerization products depending on the amount of Et3N used and on the substitution along the alkyl chain of the starting alkynol. The theoretical study allowed us to find the mechanisms of the reactions which explain the formation of the formal endo‐ or exo‐cycloisomerization products.
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