ArticleActa informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH2013
Early amniocentesis as a method of choice in diagnosing gynecological diseases.
Article in Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 12 citations in OpenAlex.
- Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.PeerJ · 2022Article
- Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.BMC medical genomics · 2021Article
- Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis.The journal of obstetrics and gynaecology research · 2021Article
- Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases.Molecular genetics & genomic medicine · 2019Article
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2 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
introductionThe 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
methodsThe 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.
conclusionThe 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.
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