Since determination of E3 is a simple, sensitive, noninvasive and cheap method, its use as an obligatory prenatal screening test should be accepted as a standard practice in Serbia.

SummaryBackgroundGenetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum.MethodsWe tested the sensitivity, specificity, positive and negative expected values of each marker with the aim of setting a model for prenatal screening readings. Statistical data treatment has been performed on a sample of 340 pregnant women with positive results of prenatal screening.ResultsSensitivity of PAPP-A was 0.6250 (probability 62.50%), free beta HCG 0.5893 (58.93%), NT 0.1785 (17.85%). Specificity of PAPP-A was 0.5106 (probability 51.06%), free beta HCG 0.5246 (52.46%), NT 0.9718 (97.18%). Positive expected value of PAPP-A was 0.2011 (probability 20.11%), free beta HCG 0.1964 (19.64%), NT 0.556 (55.56%). Negative expected value of PAPP-A was 0.8735 (probability 87.35%), free beta HCG 0.8662 (86.62%), NT 0.8571 (85.71%). The NT marker has a significantly higher specificity, which means that its normal value will significantly reduce the final risk of trisomy 21. The sensitivity of NT is much lower than that of biochemical markers, which means that a pathological value of NT does not have a significant influence on the final risk, i.e. the significantly higher sensitivity of biochemical markers will reduce the final risk of trisomy 21.ConclusionsThe analyses stress the importance of using a software which has the possibility to separate the level of a biochemical risk by correlating PAPP-A and free beta HCG and, by adding the NT marker, calculate the level of a final risk of Down syndrome.

Kratak sadr`aj: Kod 2000 trudnica ura|en je u prvom trimestru trudno}e genetski skrining na hromozomopatije odre |ivanjem biomarkera Pregnancy associated plasma protein-A i free-beta-HCG u maternalnom serumu. Posle dobijanja normalnog kariotipa fetusa, patolo{ke vrednosti bio markera su korelisane sa drugim poreme}ajima trud no }e kako bi se ispitali mogu}i uzroci pozitivnog genetskog skrinin ga. Otkriveno je ukupno 340 la`no pozitivnih nalaza biomar kera (17%). Zna~ajan udeo imao je povi{eni free-beta--HCG (48,24%). Utvr|ena je zna~ajna povezanost (p>0,01) povi {enog free-beta-HCG i krvarenja u trudno}i. U 78,52% trudno}a sa patolo{kim biomarkerima nastale su kompli kacije: 13,82% MISSed, 10,88% spontani poba ~aj, 8,82% indu kovani prekid trudno}e zbog anomalija ploda i 45% poro |aja sa poreme}ajem fetalnog vitaliteta. Rezultati istra`i vanja su pokazali veoma zna~ajnu poveza nost (p>0,01) izme|u pove}ane vrednosti biomarkera free-beta-HCG i fetalne hipoksije. La`no pozitivan genetski skri ning uzrok o van povi{e nim free-beta-HCG mo`e da bude pokazatelj pla centarne disfunkcije i poreme}aja fetalnog vitaliteta.

The Importance of Determining Human Placental Lactogen in the Third Trimester of Pregnancy Human placental lactogen (HPL) is a hormone produced by the placenta with a role in the regulation of fetoplacental growth. In this paper, the results of HPL determination in the third trimester of pregnancy are presented with the aim of testing the sensitivity of this biochemical marker for detecting placental dysfunction, fetal vitality and risk of bad outcome. The tests were performed on 370 women with high-risk pregnancy, between the 20th and 36th week of pregnancy. HPL was determined by an ELISA method using Bioserv Diagnostics tests and the results were read by a STAT-FAX 303+ reader. When compared to normal pregnancy, a significant decrease in the level of HPL biomarker was identified in preeclampsia (p<0.01), whereas in diabetes the serum level of HPL was significantly higher (p<0.01). A significant positive correlation between the level of HPL during pregnancy and the weight of a newborn child, its head circumference and Apgar score was obtained. The results of the research indicate that the maternal concentration of the HPL biomarker is directly connected to the vitality of placental tissue, so that HPL in the third trimester of pregnancy can be used as an indicator of placental insufficiency and fetal vitality.

Mucopolysaccharidoses (MPS) are recessive inheritable, progressive diseases of disordered degradation and storage of acid glucosaminoglycans. A five-year old child with psychomotor development retardation, which started at his age of two, was presented in our study. Clinical examination showed big head with rough facial features, skeleton deformities and hepatosplenomegaly. The diagnosis Dysostosis epifisealis multiplex was also confirmed by the X-ray examination of skeleton. Karyotype: 46, XY. Mental retardation: IQ--48. Clinically suspected mucopolysaccharidosis called for metabolic screening of first morning urine and the positive toluidine blue test result indicated the increased excretion of mucopolysaccharides. Further enzyme analyses of peripheral blood leucocytes confirmed the heparin sulphate sulphatase deficiency on the basis of which A (MPS III) Sanfilippo syndrome was defined. Our patient was born as a twin sibling. The other sibling is clinically healthy and of normal metabolic screening. It was not possible to define precisely the healthy heterozygote by testing the enzyme activities. A large number of mutations at various loci and big genetic heterogeneity of mucopolysaccharidoses made molecular diagnostics difficult. In the subsequent pregnancy, the mother was recommended prenatal diagnostics by enzyme analysis from the cultured chorionic villus. The prognosis of the presented patient is bad, the course of the disease is progressive and the patient can be expected to die in spastic tetraplegia in the second decade of life. The treatment is symptomatic for the time being.