Academic literature on the topic 'Kariotipas'

SEMI OTOMATISASI KARIOTIPE UNTUK DETEKSI ABERASI KROMOSOM AKIBAT PAPARAN RADIASI. Proses analisis citra kromosom dilakukan dengan mengklasifikasikan kromosom berdasarkan panjang dan bentuknya sehingga dihasilkan ideogram. Proses tersebut dinamakan kariotipe. Kariotipe umumnya dilakukan dengan cara mengambil citra sel pada saat metafase sehingga kromosom terlihat jelas terlebih dahulu, kemudian menggunting setiap citra kromosom dan mengidentifikasi masing­masing kromosom untuk dibuat ideogramnya. Proses kariotipe dapat digunakan untuk mendeteksi aberasi kromosom akibat paparan radiasi. Proses pembuatan kariotipe sangat menyita waktu dan tenaga sehingga telah banyak dikembangkan perangkat lunak untuk membantu kariotipe kromosom baik yang otomatis maupun semiotomatis. Salah satu perangkat lunak tersebut adalah Cytovision 3.6. Selain perangkat lunak yang bersifat komersil terdapat perangkat lunak lain yang dapat di unduh dan digunakan secara bebas uotuk membantu proses kariotipe yaitu SmartType Express. Tujuan kegiatan yang dilakukan adalah untuk membandingkan kemampuan perangkat lunak semi otomatis komersil dan yang bersifat bebas dalam membantu proses pembuatan ideogram untuk mendetek si aberasi kromosom akibat paparan radiasi. Metode yang digunakan adalah membandingkan waktu yang dibutuhkan oleh Cytovision 3.6 dan SmartType Express untuk menghilangkan kesepuluh background citra dan meningkatkan intensitas warna gelap pada pita kromosom juga pemisahan citra kromosom tumpang tindih hingga terbentuk citra kromosom yang lebih mudah untuk diklasifikasi dan dibuat ideogramnya. Data yang didapat kemudian diolah secara statistik menggunakan Uji Wilcoxon dengan hipotesis bahwa H0 adalah tidak terdapat perbedaan waktu secara nyata menggunakan kedua perangkat lunak untuk menghasilkan citra kromosom yang lebih baik dan H1 terdapat perbedaan secara nyata menggunakan kedua perangkat lunak untuk menghasilkan citra kromosom yang lebih baik. Taraf nyata yang digunakan (a) adalah 0,05. Hasil pengolahan secara statistik menunjukkan bahwa pengolahan citra kromosom mengunakan SmartType Express cukup baik dan tidak berbeda dengan perangkat lunak komersil Cytovision 3.6.

Latar belakang: Sindrom Down (trisomi 21) terjadi karena aberasi numerik sebagaiakibat kegagalan proses replikasi dan pemisahan sel anak (non-disjunction). Bentukkariotip aberasi ini dapat berbentuk aberasi penuh dan dapat pula berbentuk mosaik,yang diduga mempunyai implikasi terhadap berat ringannya kelainan fenotip. Di sampingpenting untuk konseling genetik, penelaahan secara cepat di bangsal perinatologi jugadiperlukan untuk asumsi sementara dalam menjawab pertanyaan keluarga pasien.Tujuan: tujuan penelitian untuk mengetahui hubungan jenis kariotip dengan beratnyaaberasi penuh terhadap beratnya fenotip sindrom Down.Metoda: penelitian dilakukan pada 147 anak usia 0-5 tahun di Yayasan Suryakanti, RSDr. Hasan Sadikin dan Yayasan Dian Grahita Jakarta. Penentuan fenotip sindrom Downdilakukan dengan penelaahan gejala utama dari kelainan tersebut. Dilakukan wawancarariwayat perinatal dan latar belakang keluarga serta pemeriksaan dermatoglifik,pemeriksaan antropometrik khusus dan pengambilan sampel darah untuk pemeriksaankromosom dari kultur limfosit.Hasil: didapatkan 146 anak mempunyai kelainan kariotip, yang ternyata semuanya trisomi21, sedangkan seorang anak menunjukkan kariotip normal. Hasil analisis menunjukkandermatoglifik, kelainan mata dan kelainan tangan dan kaki mempunyai hubungan yangsignifikan dengan kariotip. Pada dermatoglifik abnormal 78,2% mengarah ke kariotipaberasi penuh. Kelainan jantung bawaan, kelainan mata dan kelainan tangan dan kaki,terdapat masing-masing 82,4%, 77,7% dan 77,6%. Secara bersama-sama yang memberikannilai risiko tertinggi adalah kelainan gerak, kemudian kelainan mata dan dermatoglifik.Sebanyak 47 anak (32%) menunjukkan kariotip mosaik dan 99 anak (68%) jenis aberasipenuh. Diperoleh besarnya risiko terjadinya kariotip aberasi penuh adalah 9,5 kali padakeempat variabel fenotip abnormal dibandingkan dengan subjek tanpa gangguan fenotipdan dermatoglifik. Kelainan dermatoglifik, kelainan mata dan kelainan tangan serta kakisecara bermakna menunjukkan adanya hubungan antara satu variabel dengan lainnya,makin rendah persentase sel normal pada kariotip aberasi penuh, makin abnormal keadaandermatoglifik dan fenotip organ tubuh tersebut.Kesimpulan: pasien kelainan aberasi kromosom numerik, khususnya trisomi 21,mempunyai kelainan gabungan dermatoglifik serta kelainan organ tertentu dalam derajatyang maksimal, dan cenderung menunjukkan kariotip jenis aberasi penuh.

Latar belakang. Sindrom Turner adalah kumpulan gejala dengan karakteristik fisik dan hilangnya satukromosom X baik secara komplit maupun parsial, dan sering pula berupa sel mosaik.Tujuan. Untuk mengetahui karakteristik pasien sindrom Turner yang meliputi kariotip, umur saatdiagnosis, perawakan, kelainan penyerta, status pubertas, kadar follicle stimulating hormone (FSH), danusia tulang.Metode. Penelitian merupakan studi deskriptif. Data diperoleh dari Perkumpulan Turner Jakarta dancatatan medik pasien yang berkunjung ke Poliklinik Endokrin Anak RSCM dari tahun 1997-2006.Hasil. Dari 20 kasus yang berhasil dikumpulkan, 17 di antaranya dengan kariotip 45,X, sisanya mosaik.Rerata umur saat diagnosis adalah 7,75 tahun (rentang 0-15 tahun); rerata berat lahir 2590 gram; perawakanpendek 18 pasien (18/20). Terdapat 8 pasien dengan kelainan penyerta yaitu 4 anak kelainan jantung, 3gangguan telinga, dan 1 orang dengan hipertensi. Saat diagnosis tujuh pasien, mengalami pubertas terlambat.Rerata kadar FSH dari 16 pasien adalah 82,94 IU/liter (rentang 13,8-188 IU/liter). Data usia tulang (16pasien) menunjukkan retarded (11 pasien), dan sisanya average.Kesimpulan. Pada penelitian ini karakteristik utama sindrom Turner adalah kariotip 45,X dengankarakteristik fisik perawakan pendek dan pubertas terlambat disertai kelainan penyerta

<p>The objective of this research was to find the caryotype of the endemic ornamental fish, Celebes rainbow <em>(Telmatherina ladigesi) </em>from Maros River South Sulawesi, Indonesia. The experimental fish were caught from the branches of Maros River, those are Bantimurung River, Pattunuangasue River and Makkatoang River. Tissue collection and slide preparation were carried out using the solid tissue technique with slight modification. The amount of chromosome pairs found from those three rivers (three population) were 2n = 48. These chromosomes were divided into 13 pairs big chromosomes (>1 urn) and 11 pairs small chromosomes (<1 u.m). The caryotype of each population were 3 submetacentric (Sm), 7 subtelocentric (St) and 14 telocentric (t) for population in Pattunuangasue River, 2Sm-8St-14t in Bantimurung River and lSm-7St-16t in Makkatoang River. Based on the above caryotype datas it was concluded that the population of Celebes rainbow in Maros River have been different.</p> <p>Key words : <em>Celebes Rainbow, endemic, caryotype, chromosome, Maros River </em></p> <p> </p> <p>ABSTRAK</p> <p>Penelitian ini bertujuan untuk mengetahui kariotip dari ikan hias endemik rainbow Sulawesi <em>(Telmatherina ladigesi). </em>Ikan uji rainbow Sulawesi diambil dari beberapa anak Sungai Maros yaitu Sungai Bantimurung, Sungai Pattunuangasue dan Sungai Makkatoang. Pembuatan preparat kromosom dilakukan dengan menggunakan teknik jaringan padat dengan sedikit modifikasi. Jumlah kromosom semua ikan uji rainbow Sulawesi adalah 48 buah atau 24 pasang (2n = 48). Kromosom tersebut terdiri atas 13 pasang kromosom besar (>I u,m) dan 11 pasang kromosom kecil (<1 urn ). Pola kariotip yang diperoleh yaitu masing-masing 3 submetasentrik (Sm), 7 subtelosentrik (St) dan 14 telosentrik (t) untuk ikan rainbow Sulawesi di Sungai Pattunuangasue, 2Sm-8St-14t di Sungai Bantimurung dan lSm-7St-16t di Sungai Makkatoang. Perbedaan pola kariotip ini menunjukkan adanya kemungkinan perbedaan populasi.</p> Kata kunci : <em>rainbow Sulawesi, endemik, kariotip, kromosom, Sungai Maros</em>

<zakljucak> U savremenoj perinatologiji skriningu hromozomopatija posvecuje se velika paznja i postojece metode se stalno unapredjuju. Bez obzira koji test koristili, treba biti samokritican - ultrazvucni pregled u prvom trimestru je veoma vazan ne samo zbog markera hromozomopatija, nego i iskljucivanja postojanja velikih defekata fetusa, te je potrebno napraviti detaljan pregled. Merenje nuhalne translucencije je jedan od najvaznijih koraka ovog procesa, i preporucuje se da svi operateri koji pristupaju proceni rizika od hromozomopatija prodju adekvatnu obuku i sertifikaciju Fondacije za fetalnu medicinu, radi postizanja adekvatnog nivoa pregleda i reproducibilnosti rezultata. Laboratorije koje se bave biohemijskim skriningom i u prvom i u drugom trimestru moraju biti sertifikovane za to, te imati stalnu spoljnu kontrolu kvaliteta rezultata, jer je u protivnom vise kako lazno pozitivnih, tako i lazno negativnih nalaza, sto smanjuje stopu detekcije. Veoma je vazno da se pacijentima uvek napomene i to da se radi o procesu skrininga, ma koliko efikasan on bio, a ne definitivne dijagnoze i da se dijagnoza moze postaviti samo na osnovu invazivne intervencije i odredjivanja kariotipa ploda. .

Optimal chromosome preparations were obtained from stimulated lymphocyte cultures with a new method based on a combination and modification of several techniques. Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus have somatic chromosome numbers of 44, 42 and 44, respectively. Chromosome pairs L1 and L2 are easily identified in all the karyotypes and distinctive of the tilapias. Tilapia sparrmanii has one additional large metacentric chromosome pair(L3), which occurs concurrently with the reduction of two in the total chromosome number. The F chromosomes were divided into two groups, viz a submetacentric (sm) and a telocentric (t) group. T. rendalli has 8 sm chromosomes, while both T. sparrmanii and O. mossambicus have 6 chromosomes in the sm group. The rest of the F chromosomes were telocentric. The identification of the sex chromosomes in the karyotypes of tilapia has thus far not been possible using standard techniques.

IntroductionThe diagnosis of schizophrenia in children is rare. Less than 4% of schizophrenic patients begin before age 15 being much less stable than in adults as an entity in time. It is estimated that only 50% of diagnoses of schizophrenia in patients under 15 years are maintained over time. The most frequent differential diagnoses are bipolar disorder, post-traumatic stress disorder and dissociative disorder.Objective and methodsA case of a patient of 18 years old admitted in our service with diagnosis of paranoid schizophrenia due to the presence of delusional symptoms at age of 14 and due his evolution with impaired overall performance is presented. Upon arrival he presented delusions, self-referentiality and a strange phenotype with a pitched voice. Clinical history included presence of sexual abuse prior to debut of psychotic symptoms and rare medical comorbidity (diagnosed at age 15 of hypertension and paroxysmal sinus tachycardia). A kariotipe was done in a previous admission with normal results.ResultsDuring hospitalization symptomatic remission was achieved in just two days by decreasing antipsychotic potency of the treatment, he also presented elevated metanephrines and also elevated plasma aldosterone and renin in blood tests.ConclusionsWe discuss the differential diagnosis including schizophrenia, post-traumatic stress disorder with dissociative symptoms and endocrine pathology (pheochromocytoma and hyperaldosteronism).L. Galindo is a Rio Hortega fellowship (ISC III; CM14/00111).Disclosure of interestThe authors have not supplied their declaration of competing interest.

The article concentrates on the water management situation of two transboundary basins of different scales taking into consideration the individual characteristics of the system of water resources using. The water management and environmental problems of the Euphrates (Turkey-Syria) and Karkotis (Cyprus) rivers are analyzed and their water management potential is estimated based on their generalized hydrological parameters. The chosen river basins have catchment areas (440 thousand km2 and 90 km2) that differ by several orders of magnitude, but the essence of the problems remains regardless of the scale and requires an equally detailed analysis and an individual methodological approach. The historically tense Mesopotamian region in terms of water resources is considered on the example of the Euphrates River. The existing and projected hydraulic units and water management systems in the Euphrates basin on the territory of Turkey and Syria predetermine a potential conflict of interests. Without focusing on the political aspects of the problem, the current situation and the real water potential on the border of Turkey and Syria are analyzed. The Karkotis River (another name for Klarios), originates in the north-east of the Troodos mountain range and fl ows into the Morphou gulf, Mediterranean Sea. The project «Kariotis» (the name of the project differs a little from the river name) was created in the 90s of the last century by a group of Soviet specialists on the terms of a contract. The project was not implemented for political reasons, but it is of interest in terms of the project tasks to be solved and cross-border features. The most important areas of the scientifi c research related to the hydrological and water management justification of project solutions for water resources management are formulated. This is a primary condition for effective joint water use in transboundary basins.

Darbo tikslas buvo nustatyti Ternerio sindromo fenotipo ryšį su nustatyta chromosomine konstitucija ir jo įtaką šeiminei homeostazei. TS paplitimas, dažnis ir ligonių amžius diagnozavimo metu iki šiol nebuvo aprašytas mūsų tirtoje populiacijoje. KMU biologijos katedros citogenetikos laboratorijoje buvo ištirti kariotipai 1271 asmeniui, kuriam galima buvo įtarti TS: naujagimiai su įgimtomis sklaidos ydomis; mergaitės su fizinio vystymosi atsilikimais; mergaitės su brendimo atsilikimu; moterys su pirmine amenorėja; moterys su antrine amenorėja; moterys, tirtos dėl persileidimų ir nevaisingumo. Kariotipo pakitimai, būdingi TS, diagnozuoti 236 asmenims (18,6 proc.). Išskirti trys pagrindiniai kariotipo pakitimų variantai ir įvertinta, ar vienoda jų įtaka fenotipui. Tirta, ar yra skirtumas šių ligonių grupių fenotipe pagal tirtuosius parametrus: nėštumo trukmę, naujagimių kūno ilgį ir svorį, mergaičių ūgį ir svorį iki 18 metų amžiaus, tėvų amžių gimstant vaikui, sibsų amžių, paciento, kuriam įtariamas TS, amžių kariotipo tyrimo metu. Ištirta ir aprašyta keletas retų chromosomų disbalanso variantų. Nustatyta, kad monosominiai ligoniai dažniau vienintelę X chromosomą paveldi iš motinos (80,5 proc.), negu iš tėvo. Pirmą kartą atliktas šeiminis daugiaveiksniškai paveldimų požymių tyrimas (elektrokardiogramos ir gliukozės toleravimo mėginys) ne tik probandams, sergantiems TS, bet ir jų pirmosios eilės giminėms. Lietuvoje bent pusė TS atvejų lieka neatpažinti, todėl, siekiant kuo... [toliau žr. visą tekstą]<br>The aim of this study is to evaluate the link of chromosome constitution in Turner syndrome and in disruption of familial homeostasis. The distribution and incidence of TS in population nor the age of patients at the moment of diagnosis were not described previously. Cytogenetical laboratory at the Department of biology has investigated karyotypes for 1271. The number of abnormal karyotypes found is 236 (18.6%). We divided the patients into three groups according to logical, in our opinion, changes in their karyotypes. The aim of our research was to find out, if there were significant differences in phenotypes within those groups. Such traits were chosen for the comparison: the duration of pregnancy, length and weight of newborns, height and weight of the girls under 18 years old, the age of parents at birth of propositus, the age of the siblings, and the age at which TS was diagnosed for the patient. We predicted, that in a case of complete 45,X monosomy the clinical manifestation of the syndrome should be more severe, and this group of patients would differ from other karyological groups. We have found that in 80.5% of cases X chromosome had the maternal origin and in the rest 19.5% – paternal. To investigate the multifactorially inherited traits (electrocardiograms and glucose tolerance test) in relatives of Turner syndrome patients. We suggest that for the earlier diagnosis of TS, it is reasonable to investigate all girls, whose height is less than 3rd percentile.

Darbo tikslas: ištirti karvių genomo nestabilumo ryšį su pieno produktyvumu. Darbo uždaviniai: 1. Surinkti ir išanalizuoti mokslinę literatūrą apie galvijų chromosomų skaičiaus ir struktūros pakitimus bei jų ryšį su produktyvumo savybėmis. 2. Paruošti karvių chromosomų preparatus. 3. Ištirti chromosomų skaičiaus ir struktūros pakitimus aukšto ir žemo produktyvumo pieninėms karvėms. 4. Apskaičiuoti chromosomų skaičiaus ir struktūros pakitimų dažnį ir spektrą aukšto ir žemo produktyvumo pieninėms karvėms. 5. Nustatyti ryšį tarp chromosomų skaičiaus ir struktūros pakitimų ir pieno produkcijos kiekio. Darbo metodai: mokslinės literatūros, straipsnių, statistinių duomenų analizė. Praktinėje dalyje atlikti karvių chromosomų tyrimai. Rezultatai aptarti juos apibendrinus. Darbe remtasi įvairiais užsienio ir lietuvių moksliniais darbais, straipsniais, tyrimų medžiaga, darbe analizuojama tema. Darbo objektas: citogenetinė analizė atlikta 20 karvių iš LSMU VA praktinio mokymo ir bandymų centro, 10 aukšto produktyvumo karvių ir 10 žemo produktyvumo karvių. Tyrimai atlikti standartiniu citogenetiniu metodu. Rezultatai ir aptarimas: žemo produktyvumo karvės turėjo žymiai daugiau chromosominių pakitimų. Daugiausiai chromosomų struktūros pakitimų, t.y. 37,5 proc., sudaro spragos vienoje chromatidėje (S1), 15,6 proc. – spragos abiejose chromatidėse (S2), 17,2 proc. – chromatidžių trūkiai (D1), 9,4 proc. – fragmentai (F). Mažiausią dalį chromosomų struktūros pakitimų, t. y. 3,1 proc. sudaro... [toliau žr. visą tekstą]<br>The Object of the work: cytogenetic analysis was performed on 20 cows from LSMU VA practice and research centre, 10 productive cows and 10 unproductive cows. The research was performed by standard citogenetical laboratory. The aim of the work: to evaluate the influence of chromosomal aberrations on cow high productivity. The tasks of the work: collect and analyze scientific literature on bovine chromosome number and structure of the environment and their relationship with performance traits. Prepared bovine chromosome preparations. To investigate the chromosome number and structure changes in high and low productivity of dairy cows. Calculate the number of chromosomes and structural changes in the frequency and range of high and low productivity of dairy cows. Determine the relationship between chromosome number and structure changes and milk production levels. The results and their discussion: after the examination of the unproductive cows the structural and numeral variations of chromosomes were identified. Most part of structural variations in chromosomes, i.e. 37,5 proc., consisted of gaps in one chromatid (S1), 15,6 proc.of gaps in both chromatids (S2), 17,2 proc. of cracks in chromatids (D1) .There were 10,9 proc. of poliploidies (P) found in numeral variations of chromosomes. There were also identified both the structural and numerical variations of chromosomes after examining the productive cows. These structural variations of chromosomes were identified: 34,6 proc... [to full text]

Darbo uždaviniai: surinkti ir išanalizuoti mokslinę literatūrą apie chromosominius pakitimus ir jų poveikį galvijų reprodukcijai. Paruošti ir ištirti galvijų chromosomų preparatus. Įvertinti chromosomų skaičiaus ir struktūros pakitimus bei jų įtaką reprodukcinėms savybėms. Rezultatai ir aptarimas: ištyrus karves, kurioms nustatyti reprodukcijos sutrikimai, buvo identifikuoti ir chromosomų struktūros, ir chromosomų skaičiaus pakitimai. Didžiąją dalį chromosomų struktūros pakitimų, t. y. 38,2 proc., sudarė spragos vienoje chromatidėje (S1), 16,9 proc. spragos abiejose chromatidėse (S2) ir 16,9 proc. – chromatidžių trūkiai (D1). Fragmentai (F) sudarė 12,4 proc. Mažiausią dalį chromosomų struktūros aberacijų, t. y. 2,2 proc., sudarė žiedinės chromosomos (Ž) ir 2,2 proc. – chromosomų trūkiai (D2). Iš chromosomų skaičiaus pakitimų rasta 7,9 proc. poliploidijų (P). Ištyrus karves, kurioms nenustatyti reprodukcijos sutrikimai, taip pat buvo identifikuoti tiek chromosomų struktūros, tiek skaičiaus pakitimai. Iš chromosomų struktūros pakitimų nustatyta: 28,6 proc. spragų vienoje chromatidėje (S1), 11,4 proc. chromatidžių trūkių (D1), 11,4 proc. fragmentų (F), 8,6 proc. spragų abiejose chromatidėse (S2). Žiedinių chromosomų ir dicenrikų nenustatyta. Iš chromosomų skaičiaus pakitimų aptikta 34,3 proc. poliploidijų (P) ir 2,9 proc. trisomijų (Tr). Karvių grupėje, turinčių reprodukcijos sutrikimų, ląstelių su pakitimais pasitaiko 3,3 karto dažniau (p<0,001) nei kontrolinėje grupėje... [toliau žr. visą tekstą]<br>The Object of the work: cytogenetic analysis was performed on 26 cows from animal farm in Giraitė, 12 cows with reproductive disorder and 14 cows with no reproductive disorder (the control group). The research was performed by standard citogenetical approach modified in laboratory. The extent of the work: 48 pages. There are 4 tables and 10 pictures included. The aim of the work: to evaluate the influence of chromosomal aberrations on reproductive features of the cattle. The tasks of the work: to collect and analyze scientific literature on chromosomal changes and their impact on reproduction of cattle. To prepare and investigate the preparation of cattle chromosomes, estimate the structural and numeral variations of chromosomes and their influence on reproductive characteristics. The results and their discussion: after the examination of the cows with reproductive disorders the structural and numeral variations of chromosomes were identified. The major part of structural variations in chromosomes, i.e. 38.2%, consisted of gaps in one chromatid (S1), 16.9% of gaps in both chromatids (S2), 16.9% of cracks in chromatids (D1) and 12.4% of fragments (F). The least part (2.2%) of structural aberrations of chromosomes consisted of circular chromosomes (Ž) and 2.2% of cracks in chromosomes (D2). There were 7.9% of poliploidies (P) found in numeral variations of chromosomes. There were also identified both the structural and numerical variations of chromosomes after examining the... [to full text]

UVOD Prenatalna dijagnostika predstavlja skup metoda i postupaka čiji je cilj da potvrde ili isključe postojanje kongenitalnih anomalija ploda. Prenatalni skrining može biti ne invazivni i invazivni. Ne invazivni skrining treba da ima visku senzitivnost i da omogući adekvatnu selekciju trudnica kojima će se predložiti genetsko ispitivanje ploda iz uzoraka dobijenih invazivnim metodama prenatalne dijagnostike. Prenatalni skrining prvog trimestra trudnoće obuhvata ultrazvučni pregled debljine nuhalne translucencije i laboratorijsku analizu dva biohemijska markera od 11 do 14 nedelje trudnoće, Prenatalni skrining drugog trimestra trudnoće koji se zasniva na biohemijskom skriningu i tripl testu iako je jedini koji se primenjuje zbog niske senzitivnosti od 20% do 40%, ne može se smatrati validnim. Integrativni biohemijski test prvog i drugog trimestra imaj veću senzitivnost (od 40 do 60%) ali ni on nije dao očekivane rezultate u adekvatnoj selekciji trudnica za genetsku analizu ploda zbog visoke stope lažno pozitivnih rezultata. Drugi trimestar trudnoće omogućava sonografskim pregledima i biohemijskim analizama dopunski način a u nekim slučajevima i jedini u proceni postojanja rizika Daunovog sindroma ili nekih drugih hromozomskih aberacija ploda Zato je primena integrativnih prenatalnih ne invazivnih metoda prvog i drugog trimestra trudnoće veoma značaja u pobolj&scaron;anju dijagnostičkih vrednosti prenatalnih skrining testova i ima za cilj da smanji procenat invazivnih procedura zbog mogućih komplikacija i ne potrebnih finansijskih tro&scaron;kova. Daunov sindrom(trizomija 21 para hromozoma) je najče&scaron;ća hromozomska numerička aberacija praćena mentalnom retardacijom dece (I.Q&lt;70. ) Deca sa Daunovim sindromom su karakterističnog fenotipskog izgleda i sa čestim kongenitalnim anomailjama koje im onemogućavaju normalan život a često su i uzrok njihove prerane smrtnosti. Kongenitalne anomalije su zastupljene kod 2% do 5% živo rođene dece, predstavljaju 25 % perinatalne smrtnosti, četvrtina su uslovljnene hromozomskim aberacijama ili naslednom osnovom, od čega 0, 2%-0, 4% su sa Daunovim sindromom. CILJEVI Ciljevi četrorogodi&scaron;njeg istraživanja su bili da se pobolj&scaron;a dijagnostička vrednost postojećih prenatalnih testova, da se potvrdi značaj ultrazvučnog skrininga drugog trimestra trudnoće analizom debljine vratne brazde i dužine butne kosti ploda te da se pobolj&scaron;a njegova senzitivnost korporativnom sonografskom analizom cefaličnog indexa, intraorbitalnog rastojanja i dužine fronto-talamične distance. MATERIJAL I METODE Ukupan broj trudnica obuhvaćen četvorogodi&scaron;njim ispitivanjem koje su ultrazvučno pregledane i kojima je savetovano genetsko ispitivanje ploda blio je 4552. Tokom Retrospektivnog dvogodi&scaron;njieg ( 2010.2011)bila je 2169 dok je prospektivnom dvogodi&scaron;njom analizom (2012, 2013)je bilo obuhvaćeno 2383 trudnica. Ispitivana grupa su bile trudnice kod kojih je genetskom analizom otkriven patolo&scaron;ki kariotip ploda, kontrolna grupa je obuhvatila sve ostale trudnice kod je kariotip ploda bio normalan od kojih su 124 trudnice odabrane metodom slučajnog izbora. Retrospektivnom studijom ultrazvučna je pregledana dužina vratne brazde(&gt;6mm i dužina butne kosti&lt;0, 6 od 14 do 22 nedelje trudnoće. Analizirana je cirkulacija fetalne krvi kroz duktus venosus ploda( a talas) i postojanje nosne kosti ploda(+, -). Prospektivnom analizom je ultrazvučnim pregledom ploda dodatno analiziran cefalični index(&gt;85%), i intraorbitalna distanca i duzina fronto-talamične distance(&lt;80%) ploda. Kori&scaron;ćene su metode deskriptivne statističke analize, aritmetička sredina, standardna devijacija, najmanja i najveća vrednost kod parametrijskih obeležja dok su za ne parametrijska postojanje nosne kosti i alfa talasa duktusu venozusu kori&scaron;ćene druge statističke metode, a komparativnim statističkim metodama kod normalnih, patolo&scaron;kih i kariotipova sa Daunovim sindromom ploda. Statistička značajnost je dokazana t testom a definisana nivoom p&lt;0, 05 i p&lt;0, 001 odnosom kod normalnih, patolo&scaron;kih kariotipova i Daunovog sindroma. Multifaktorskom regresivnom logističkom analizom je urađena procena senzitvnosti prenatalnog ultrazvučnog skrininga sa ispitivanim obeležjima drugog trimestra trudnoće REZULTATI I DISKUSIJA Od ukupnog broja ultrazvučno pregledaninh trudnica 4552 kojima je savetovano genetska analiza ploda citogenetskom analizom je otkriveno 66 patolo&scaron;kih kariotipova 1, 49%, sa Dunovim sindromom 31 0, 68%. Deskriptivnom statističkom obradom ultrazvučno ispitivanih obeležja od 14 do 22 nedelje trudnoće, uočeno je odstupanje i potvrđen značaj starije životne dobi trudnica, debljine vratne brazde i dužine frontotalamične distance u odnosu na normalne nalaze katiotipova ploda u predikciji Daunovog sindroma.Vrednosti dužine butne kosti, cefaličnog indeksa i intraorbitalnog rastojanja nisu imala veća odstupanja u poređenju pato&scaron;kokih i normalnih nalaza kariotipova.Studentovim t testom je i dokazano p&lt;0, 001 za debljinu vratne brazde i dužinu fronto-talamične distance, dok je za stariju životnu dob trudnice potvrđeno a;0, 001. Senzitivnost prenatalnog skrininga drugog trimestra analizom debljine vratne brazde i dužine butne kosti je veća u odnosu na standardno primenjivan biohemijski skrining drugog trimestra tripl testa (senzitivnost 40%-60) sa velikom stopom lažno pozitivnih rezultata.Dokazan je značaj pobolj&scaron;anja senzitivnosti prenatalnih skrining testova dopunskom analizom tri ultrazvučna parametra, dužine fronto-talamične distance, cefaličnog indeksa i intraorbitalnog rastojanja u predikciji Daunovog sindroma, ali i kod ostalih hromozomskih aberacija ploda u periodu od 14 do 22 nedelje trudnoće primenomi multifaktorske logističke regresivne analize senzitivnost preko 93% sa 7% lažno pozitivnih rezultata. Postojanje korelacije između debljine vratne brazde i dužine fronto-talamične distance ploda pobolj&scaron;avai senzitivnost prenatalnih ultrazvučnog skrininga. Integrativnim pristupom ultrazvučnog i biohemijskog skrininga drugog trimesra trudnoće, tripl testa očekuje se pobolj&scaron;ati dijagnostičkih vrednosti prenatalnog skrininga senzitivnost ne invazivnog skrininga u predikciji Daunovog sindroma i ostalih hromozomskih aberacija ploda. ZAKLJUČCI 1Potvrđen je značaj starije životne dobi trudnice u povećanju rizika Daunovog sindoma, i ostalih hromozomskih aberacija ploda ( p&lt;0, 001) Potvrđen je značaj zadebljanja vratne brazde ploda &gt;6mm(p&lt;0, 001) i skraćenja butne kosti kod Daunovog sindroma ploda od 14 do 22 nedelje trudnoće u prenatalnom otkrivanju Dunovog sindroma i ostalih hromozomskih aberacija ploda i selekciji trudnica kojima će se predložiti genetsko ispitivanje ploda.Potvrđena je hipoteza da skraćenje fronto-talamične distance pobolj&scaron;ava senzitivnost ultrasonografskog skrininga, jer če&scaron;će postoji kod Daunovog sindroma ploda ali i ostalih numeričkih hromozomskih aberacija tipa, nego kod normalnih nalaza kariotipa ploda( p&lt;0, 001).Komparativnom analzom ultrazvučnim pregledom fronto-talamična distance debljine vratne brazde i dužine butne kosti ploda od 14 do 22 nedelje trudnoće može se značajno pobolj&scaron;ati vrednost dijagnostičkih prenatalnih testova u predikciji Daunovog sindroma. Postojanje korelacija između fronto-talamične distance i debljine vratne brazde dopunjuje ultrazvučni skrining i povećava njegovu senzitivnost na preko 90%, &scaron;to je multifaktorskom regresivnom logaritamskom analizom i potvrđeno. Značaj multidisciplinarnog pristupa pogotovo je izražen u predikciji Daunovog sindroma, obzirom na različite specijalnosti koje u njemu učestvuju. Cost &ndash; benefit analiza. Visoka senzitivnost ne invazivnog prenatalnog skrininga u predikciji Daunovog sindroma, smanjuje tro&scaron;kove za pojedince i državu jer je njihova cena i do dest puta manja od cene citogenetskih analiza, a i trudnice se ne izlažu riziku mogućih komplikacija prilikom izvođenja invazivnih metoda<br>INTRODUCTIONS Prenatal diagnostic procedure represent a set of methods and techniques with the aim to afirmate or eliminate the presence of Down&rsquo;s syndrome and other congenital anomalies Can be non-invasive and invasive methods. Non-invasive methods (laboratory or ultrasonographic) have the aim to make possible the most valid assessment of the risk of presence of an affected fetus in the pregnancy, selected pregnancy for invasive diagnostics procedures and citogenetics analisseskariotipingfoeti. Down&rsquo;s syndrome, aneuploidy with trisomy 21 chromosomal, is the most common chromosomal numerical aberration associated with mental retardation of children (IQ&lt; 70). Children with Down&rsquo;s syndrome have characteristic phenotypic appearance with high frequent congenital anomalies that preclude a normal life and are frequently the cause of their earlier death. AIM The aim of the four year long investigation was to confirm the importance of ultrasound screening by the analyses of the basic ultrasound parameters for the second trimester, the thickness of the nuchal fold and the length of the femur of the fetus in the prediction of Down&rsquo;s syndrome and other chromosomal aberrations of the fetus, as well as to improve other existing ultrasonic screenings of the first and second trimester of pregnancy by ultrasonic examination and analyses of the cephalic index and intraorbital space and the length of the fronto-thalamic distance. MATERIAL AND METODS Retrospective investigation (2010. 2011) and prospective investigation (2012.2013) includes 4655 pregnant women. For all pregnant women the genetic investigation of the fetus was performed. A total of 68 were found with chromosomal aberrations, 38 with Down&rsquo;s syndrome. The method of haphazard choice in retrospective study and in prospective study ultrasound markers are examined. In retrospective analyses of the nuchal fold (&lt;6mm and the length of femur &lt;0.6, that represent basic ultrasound screening of the second trimester and are analyzed as parametric signs of the second trimester, and are analyzed as parametric markers, and analyses of the circulation of fetal blood through ductus venosus of the fetus. In the retrospective study the length of the nuchal fold (&gt;6mm in length, that represent a basic ultrasound screening of the second trimester, and are analyzed as parametric markers in the prediction of Down&rsquo;s syndrome and other chromosomal aberrations. RESULTS AND DISCUSION Cytogenetic analyses revealed 66 (1, 49%) pathologic karyotypes and Down syndrome were present in 31 (0, 68%) cases. All pathologic karyotypes were obtained after ultrasound examinations of 4552 pregnant women. Ultrasound markers for period 14th-22nd GW were analyzed with descriptive statistical methods and importance of pregnancy in older women, thickness of nuchal fold and lengths frontal thalamic distance were proofed in case of Down syndrome. Femoral bone lengths, cephalic index and intraorbital distances were similar for both groups, normal and pathologic karyotypes. Student&rsquo;s t test revealed statistical significance with p&lt;0, 001 values for nuchal fold thickness, frontal thalamic distance and older ages.Three additional ultrasound markers (frontal thalamic distance, cephalic index, intraorbital distance) improve prediction of Down syndrome and other chromosomal aberrations between 14th and 22nd GW as well. Multifactorial logistic regressive analyses revealed 93% sensitivity with 7% false positive results. Corelation between nuchal fold thickness and frontal thalamic distance improve prenatal ultrasound screening sensitivity. Using both ultrasound and biochemical screening (triple test) is way to improve sensitivity of non invasive screening in prediction of Down syndrome and other chromosomal aberrations. CONCLUSIONS Importance of pregnant women ages and higher risk for Down syndrome and other chromosomal aberrations was proofed (p&lt;0, 001).Importance of nuchal fold thickness above 6mm (p&lt;0, 001) and shorter femoral bone marker in period from 14th to 22nd GW in prediction of Down syndrome and other chromosomal aberrations are proofed (p&lt;0, 001). Hypothesses that frontal thalamic distance improve ultrasound screening sensitivity was proofed was proofed (p&lt;0, 001) since it is significantly shorter in Down syndrome and other chromosomal aberrations in comparison with fetuses with normal karyotypes. Comparative analyses of frontothalamic distance, nuchal fold thickness and femoral bone length in period from 14th to 22nd GW can signifi cantly improve prenatal diagnostic testing in Down syndrome prediction. Correlation between frontothalamic distance and nuchal fold thickness improve ultrasound screening sensitivity on 93% that is proofed with multifactorial logistic regressive analyses. Significance of multidisciplinary approach is high in Down syndrome prediction. Cost-benefit: High sensitivity of non invasive prenatal screening in Down syndrome prediction reduces costs for families and government since it costs ten time less than cytogenetic analyses and risk with invasive procedures is avoided.