Reliability, Accuracy and Cost-effectiveness of Prenatal Screening Tests

Nowadays in most countries worldwide and in Albania as well, it has become standard in prenatal care to offer screening tests for neural tube defects and genetic abnormalities. There have been some changes in the recommended method of prenatal screening over the past few years, and research to improve detection rates with better combinations of maternal serum analytes is ongoing. Up to recent years there was mostly in use ultrasound examination of the fetus combined with double, triple and quadruple test as non invasive screening test, followed by diagnostic test like amniocentesis, chorionic villus sampling, cordocentesis when need to confirm the diagnosis. In the past 4 years there have been introduced other tests named; harmony, panorama, verify and materniT21, that are grouped as non invasive prenatal test (NIPT) or known as well as non invasive prenatal screening (NIPS), when the testing was being developed, it was thought it would be diagnostic. However, it still had false positives and false negatives, rendering it not a diagnostic test, but a screening test. As the science and technology advance in clinical practical basis we look not only to reliability but also at the cost-effectiveness of these prenatal screenings. Whereas in developed countries with well functioning health care system, prenatal screening test are covered, in Albania such prenatal screening tests are contemporaneous choices of pregnancy care with up to date information provided by obstetrician, nevertheless, the expenditure of these tests remain uncovered by our health care system therefore these costs remain part of patient’s personal budget. In conclusion, application of prenatal screening test and obstetrical ultrasound examination are very important to be in use for every pregnant woman. In Albania, this can be done as part of high standard of care only when medical protocols, reliability and cost-effectiveness of these tests are part of integral promotion under service of national health care for an excellence care during pregnancy. Keywords: Prenatal screening, genetic abnormalities, reliability, cost-effectivenes

Social Proficiency of Down Syndrome People in Today’s Era

The point of view of children with Down syndrome in respect of socially competency/proficiency has not been supported by empirical data. Conversely, the emerging evidence indicates that beginning in infancy and throughout the lifespan, individuals with DS show difficulties interpreting social and emotional cues, communicating about social and emotional experiences, understanding mental states such as desires and beliefs in self and others; and, regulating and acting on cognitions and emotions in an adaptive way during peer interactions. These developmental skills are considered key components of social competence and may be implicated in the challenges that individuals with DS often face with regard to social adaptation regardless of their IQ status. In particular, difficulties in social competence may be linked to several adjustment problems observed among individuals with DS later in life, including the areas of self-identity development, peer relationships, and mental health. This paper will focus on social competence in individuals with Down syndrome and the developmental implications of social ability across the lifespan. Keywords: Children, Down syndrome, social competency, mental stat

Safety and Concerns of Diagnostic Imaging Utilisation during Pregnancy

Pregnancy is special situation where human body of pregnant woman undergoes various physiological changes. These changes are complex and involve in a way all anatomical systems. Medical care during pregnancy is interesting and often challenging as it often engages medical management and diagnostic procedures that can place at risk the fetus and the mother as well. Diagnostic imaging modalities are available for diagnostic use during pregnancy. These include X-ray, ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT), and other modalities as well. Ultrasonography so far is the most common diagnostic imaging modality used during pregnancy; however, other modalities may be required to be employed. Diagnostic X-ray is the most frequent cause of anxiety for obstetricians and patients as well. To a great extent of this concern is secondary to a general belief that any radiation exposure is harmful and will result in an anomalous fetus. This anxiety could lead to inappropriate therapeutic abortion and lawsuit. Actually, most diagnostic radiologic procedures are associated with little, if any, known significant fetal risks. The concern and anxiety among obstetricians, physicians in general and patients as well is present in almost all of them in Albania, though, concerns of this kind exist even in well organised medical systems in developed countries. Having mentioned that, however, in latter one they are isolated cases as physicians are well informed as medical specialists work in close collaboration with interdisciplinary approach of health care delivery as a team. On the other hand, patient education is a great tool in transmitting proper professional information to interested population in regards of this matter. Conclusions: Since according to the American College of Radiology and American College of Obstetricians and Gynecologists, no single diagnostic X-ray procedure results in radiation exposure to a degree that would threaten the well-being of the developing preembryo, embryo, or fetus, Albanian physician must counsel patients appropriately about the potential risks and measures that can reduce diagnostic X-ray exposure.Keywords: Diagnostic imaging modalities, pregnancy, exposure, risk, utilisation, appropriate

Use of Biochemical Markers in Predictive and Diagnostic Means in Diagnosing Obstetrical Pathologies in Albania

Background: The majority of published scientific papers concerning the role of biochemical markers of first trimester such as PAPP-A and free-ß-hCG in predicting future pregnancy complications enhance the importance of these parameters. Objective: To evaluate the role of biochemical markers parameters in other pregnancy disorders after first trimester such as Fetal Growth Restriction, Preeclampsia, Preterm Birth, Stillbirth, Fetal Macrosomia. Materials and methods: As a part of a prospective study, we did study 866 patients that were followed from the beginning of pregnancy to delivery, after giving their agreement. Quantity and quality research methods were used and data was analyzed by IBM SPSS Statistics. Results: Our data of showed that 11.4% of this cohort presented one of the above respective pathologies. The risk was better related to MoM PAPP-A than free-ß-hCG. Patients with MoM PAPP-A less than cut off 0.5, has double risk of having the pathology comparing to those patients with Conclusions: Consequently, the value of counseling the patient so early, with the information taken from evidence based medicine, has importance for them, in order to be more careful after having the results, and make regular control with their physician. Keywords: Biochemical markers, pregnancy complications, Down syndrome

Infections during Pregnancy; Accessibility, Consequences, Challenges and Appropriate Management Approach in Albania

Infections during pregnancy represent a unique medical challenge in diagnosis as there is the management of the infected woman and the developing fetus to consider. Perinatal counselling requires a discussion of risks of transmission, interventions to possibly prevent transmission in-utero or postnatally, diagnosis of infection in the fetus or newborn and finally, postnatal management of the infant. Many congenital infections are asymptomatic at birth, but some can be associated with significant long term sequelae. Some congenital infections can be successfully prevented provided adequate strategies are implemented in a timely manner. The anxiety for parents cannot be underestimated. Informed counselling aims to assist parents with the process. In conclusion, prevention, early diagnosis and proper management of medical problems like infections during pregnancy often involves a broad spectrum of medical specialists, and a superior of such care can only be done only in harmonised medical interdisciplinary service under a current clinical protocols supported by functional Albanian National Health Service. Keywords: infections, pregnancy, mother, fetus, diagnosis, consequence