Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advancements in NIPT sequencing technology are becoming promising and more reliable, the ability to detect beyond aneuploidies and to expand detection of submicroscopic genomic alterations, as well as single-gene disorders might become possible. Here we present a case of a 34-year-old pregnant woman, G2P1, who had NIPT screening which detected a terminal microduplication of 10.34 Mb on the long arm of chromosome 15 (15q26.1q26.3). Subsequent prenatal diagnostic testing including karyotype, microarray and fluorescence in situ hybridization (FISH) analyses were performed. Microarray testing confirmed and particularized a copy number gain of 10.66 Mb of the distal end of the long arm of chromosome 15. The G-banding cytogenetic studies yielded results consistent with unbalanced translocation between chromosome 15 and 18. To further characterize the abnormality involving the long arm of chromosome 18 and to map the genomic location of the duplicated 15q more precisely, FISH analysis using specific sub-telomeric probes was performed. FISH analysis confirmed that the extra duplicated segment of chromosome 15 is translocated onto the distal end of the long arm of chromosome 18 at band 18q23. Parental karyotype and FISH studies were performed to see if this unbalanced rearrangement was inherited from a healthy balanced translocation carrier versus being a de novo finding. Parental chromosomal analysis provided no evidence of a rearrangement between chromosome 15 and chromosome 18. The final fetal karyotype was reported as 46,XX,der(18)t(15;18)(q26.2;q23)dn. In this case study, the microduplication of fetal chromosome 15q26.1q26.3 was accurately detected using NIPT. Our results suggest that further refinements in NIPT have the potential to evolve to a powerful and efficient screening method, which might be used to detect a broad range of chromosomal imbalances. Since microduplications and microdeletions are a potential reportable result with NIPT, this must be included in pre-test counseling. Prenatal diagnostic testing of such findings is strongly recommended.

Introduction: Many factors affect the growth and development of the mandible. The most common one is micrognathia; this can pose and neonatal emergency. Early recognition of mandibular and other face anomalies could provide immediate care for these infants, and presence of neonatologist or other doctors in the delivery room. The aim: Aim of this study was to develop normal ranges of the facial markers: mandibular length, jaw index and the facial angle in the fetus using 3D ultrasound. Material and methods: The research was conducted as a cross-sectional study in the second trimester of pregnancy. Fetuses (female n=23 and male n=27) from singleton pregnancy between 29-37 week of gestation were examined by ultrasound. All images were acquired transabdominally, using Voluson E16. Ultrasound was performed by an experienced operator (SM) and measured the values of head circumference, abdominal circumference, biparietal diameter, femur length, body mass. For mandibular length, inferior facial angle, and the jaw index was calculated (Jaw Index =AP mandibular diameter / BPD * 100), the profile images were used (only images in the exact midsagittal plane were used). The characteristics of the fetal profiles were determined by the Schwartz and Ricketts profile analysis using soft tissue landmarks and analysis of the profile photographs. Results: The results show that the jaw index ranged from 25.33 and 34.06 with an average of 26.00 for all examined fetuses. Conclusion: The physiological position of the mandible is retrognathic and that the average physiological length of the mandible in the third trimester is 2.31cm. There is no difference in mandibular length between genders. Corresponding Author: Samra Salga-Nefic Rosenweg 2a, 3125 Toffen, Switzerland, e-mail: samrasalaga@gmail.com A determination of the standards of morphometrics variables of the stomatognathic system of a fetus INTRODUCTION Many factors affect the growth and development of the mandible: genes, irregular cell migration, low growth potential, feeding habits, and other habits acquired by newborns.1 The most common anomalies are microgenia (weak mandible growth) and retrogenia (small mandible growth in the sagittal plane).1 Deviation of physiological mandibular growth and development may incapacitate the essential functions of the stomatognathic system. Fetuses with mandible anomalies are at risk of airway obstruction through retro-positioning of the tongue-base into posterior pharyngeal airway.2 Micrognathia is frequently seen in Pierre Robin sequence, however it can be found in many genetic syndromes.3 Antenatal diagnosis of anomalies by ultrasound is widely used nowadays. The aim of this study was to develop normal ranges of the facial marker: mandibular length, jaw index and the facial angle in the fetus using 3D ultrasound. MATERIAL AND METHODS The research was conducted as a cross-sectional study in the second trimester of pregnancy. Fetuses (female n=23 and male n=27) from singleton pregnancy between 29-37 week of gestation were examined by ultrasound. All images were acquired transabdominally, using ultrasound Voluson E16, GE Healthcare, Austria GmbH & Co OG. Salaga-Nefic S., Mehmedbasic S., Kozadra J., Zukanovic A., Tiro, A., Dzemidzic, V., Nakas E. A determination of the standards of morphometrics variables of the stomatognathic system of a fetus. South Eur J Orthod Dentofac Res. 2019;6(1):6-11. Submitted: July 30, 2018; Revised: March 7, 2019; Published: April 30, 2019 6 South Eur J Orthod Dentofac Res Salaga-Nefic S. et al. Morphometrics variables of the fetus

The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology “Mehmedbasic” for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman’s) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for feedback was 98.8%. The results presented in this paper prove that an expert diagnostic system based on neural networks can be efficiently used for classification of five aneuploidy syndromes, covered with this study, based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics. Developed Expert System proved to be simple, robust, and powerful in properly classifying prenatal aneuploidy syndromes.

Introduction: The aim of prenatal diagnosis is to detect fetal structural and genetic abnormalities. Used are different medical methods, procedures, processes and techniques. For this reason we can speak about the prevention and detection of hereditary diseases and congenital anomalies in the unborn fetus. Material and methods: The authors analyzed the results of early amniocentesis tests performed during 2009 in Institute for Gynecology, Infertility and Perinatology “Mehmedbasic” in Sarajevo. Performed is 299 analysis of amniotic fluid after amnion puncture done in the Institute or at the Clinic of Gynecology and Obstetrics (GAK) Sarajevo. Results and Discussion: Indications for the performance of early amniocentesis were: age greater over 35 (84.9%), positive ultrasound markers (1.6%), positive biochemical markers (5.6%) and positive family history for hereditary diseases (7.9%). Detected was 19 pathological cariograms or very high 7% of the total annual number of amniocentesis. An analysis of the distribution of pregnant women in relation to the indication of the result of cytogenetic analysis for each table made positive predictive value (PPV). For indicator age PPV was 0.11, 0.66 for ultrasound markers, for biochemical markers 0.13, for other indications–0.04. The logistic regression model (odds -ratio 11.234 ) indicate a positive ultrasound findings in relation to the year indicates that the risk to gain abnormal fetal karyotype 13 times higher when using only age as an indication for early amniocentesis. Of the 19 pathological cariogram largest number refers to M.Down (10), Sy. Edwards was detected in 2 patients, Sy. Klinefelter in 3, mosaicism in 3 and translocation gene in two of the fetus. Conclusion: The authors would like to acknowledge a very high percentage of pathological cariogram risk groups, the extension of indications for RAC indicate the value of ultrasound markers as a good screening methods and the need for social incentives to perform screening tests and early amniocentesis in B&H in order to prevent genetic abnormalities.