{"id":3171,"date":"2019-10-01T09:12:58","date_gmt":"2019-10-01T09:12:58","guid":{"rendered":"https:\/\/www.clg.cz\/?page_id=3171"},"modified":"2022-06-22T08:14:54","modified_gmt":"2022-06-22T08:14:54","slug":"array-cgh-examination","status":"publish","type":"page","link":"https:\/\/www.clg.cz\/en\/array-cgh-examination\/","title":{"rendered":"Examination of amniocenthesis"},"content":{"rendered":"<p>[vc_row][vc_column][vc_column_text]<\/p>\n<h2>Array CGH examination<\/h2>\n<p>The purpose of this method is to detect small unbalanced rearrangements on chromosomes (losses and gains of genetic material) that cannot be captured by G-banding. Detected rearrangements may cause the patient a serious clinical condition or significantly increase the risk for his\/her descendants due to loss (or over-function or lack of function) of affected genes.<\/p>\n<p>The principle of the method is to compare control DNA from a healthy person with the DNA of a tested person.\u00a0During the procedure both control and tested DNAs are marked with fluorescent dyes, hybridized to microarray chip with high quality probes and\u00a0than processed for\u00a0image analysis by\u00a0Agilent\u00a0Cytogenomics\u00a0software.\u00a0This step is followed by detailed analysis to evaluate the significance of device-marked aberrations and their\u00a0relevance\u00a0to individual proband health conditions (or ultrasound findings in the fetus).\u00a0The final results are described with regards to the worldwide medical databases and academic literature with the same or similar findings, thus refining the outcome of the\u00a0genetic consultation performed by a physician in our center.<\/p>\n<p>The disadvantage of this method is its high sensitivity to the quality of the input\u00a0material\u00a0and it does not\u00a0detect\u00a0chromosome aberrations without gain or loss of genetic material. Therefore it cannot be used to\u00a0detect clinically healthy carriers of small balanced chromosomal rearrangements who have a high risk of repeated pregnancy loss or childbirth of a disabled child.<\/p>\n<p><strong>Sample computer analysis output \u2013 normal male profile<\/strong><\/p>\n<p><a href=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/a.png\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-2622\" src=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/a.png\" alt=\"\" width=\"600\" height=\"450\" srcset=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/a.png 1600w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/a-300x225.png 300w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/a-768x576.png 768w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/a-1024x768.png 1024w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/a>[\/vc_column_text][vc_empty_space][vc_column_text]<\/p>\n<h2>Karyotypization &#8211; chromosomal screening<\/h2>\n<p><strong>\u00a0<\/strong><\/p>\n<p><strong>Karyotypization is a cytogenetic examination used to determine<\/strong> the chromosomal set of the individual.\u00a0We can examine peripheral blood cells, amniotic fluid, and the chorionic villus or fetal tissue of a miscarriage as needed.<\/p>\n<p>The biological material is cultivated under sterile conditions in a\u00a0nutrient medium in order to contain a large number of dividing cells.\u00a0The\u00a0grown cell suspension is then used as a sample on a glass slide and stained.\u00a0The\u00a0number and structure of chromosomes in dividing cells can be evaluated\u00a0under a\u00a0microscope. The complete karyotype can be determined after examining the sufficient number of cells.<\/p>\n<p>&nbsp;<\/p>\n<p>The human karyotype has 46 chromosomes;\u00a022 pairs (one set from each parent) and two sex chromosomes: two X chromosomes in a female and X and Y chromosomes in a male.\u00a0Each chromosome has a specific shape and a certain sequence of light and dark bands (G bands). The chromosomes are evaluated according to the international system of cytogenetic nomenclature\u00a0ISCN.\u00a0Variations in the structure or number of chromosomes are considered pathological findings.<\/p>\n<p><strong>Our laboratory is accredited according to \u010cSN EN ISO 15189.<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>Female karyotype 46, XX<\/p>\n<p><a href=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/b.tif\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-2623\" src=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/b.tif\" alt=\"\" width=\"1\" height=\"1\" \/><\/a><a href=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/bb.png\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-2624\" src=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/bb.png\" alt=\"\" width=\"600\" height=\"529\" srcset=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/bb.png 1016w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/bb-300x265.png 300w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/bb-768x677.png 768w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/a><\/p>\n<p>Male karyotype 46,\u00a0XY<\/p>\n<p><a href=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/dd.png\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-2626\" src=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/dd.png\" alt=\"\" width=\"600\" height=\"529\" srcset=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/dd.png 1016w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/dd-300x265.png 300w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/dd-768x677.png 768w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/a>[\/vc_column_text][vc_empty_space][vc_column_text]<\/p>\n<h2>Examination using the FISH method<\/h2>\n<p>&nbsp;<\/p>\n<p>FISH screening in\u00a0our\u00a0laboratory\u00a0is used\u00a0to\u00a0determine\u00a0and\u00a0specify the\u00a0variations\u00a0in\u00a0the <strong>number\u00a0and\u00a0structure\u00a0of chromosomes<\/strong>\u00a0in\u00a0biological\u00a0material\u00a0\u2013\u00a0specifically\u00a0and primarily in blood\u00a0and\u00a0amniotic\u00a0water.<\/p>\n<p>FISH,\u00a0or\u00a0<strong>Fluorescence In Situ Hybridization<\/strong>,\u00a0utilizes\u00a0artificially\u00a0prepared\u00a0color-coded\u00a0DNA\u00a0segments,\u00a0known as probes, that are\u00a0bound\u00a0to\u00a0the corresponding\u00a0portions of\u00a0the chromosomal\u00a0DNA of\u00a0the examined\u00a0sample.\u00a0Hybridization\u00a0takes place\u00a0<em>in situ<\/em>, or\u00a0\u201con\u00a0site\u201d, specifically on\u00a0a microscopic\u00a0backing\u00a0slide\u00a0directly\u00a0on\u00a0the cores of the\u00a0examined\u00a0sample.\u00a0The result\u00a0shows the\u00a0presence\u00a0or\u00a0absence\u00a0of <strong>whole\u00a0chromosomes<\/strong>,\u00a0or\u00a0<strong>certain\u00a0segments\u00a0of DNA<\/strong>,\u00a0the number\u00a0of copies\u00a0of these\u00a0sections,\u00a0and sometimes even their\u00a0locations\u00a0on\u00a0the chromosomes.\u00a0\u00a0The presence of the\u00a0examined\u00a0section\u00a0is\u00a0visible\u00a0in color\u00a0in a\u00a0fluorescent\u00a0microscope\u00a0thanks to the\u00a0bound\u00a0and marked probe.<\/p>\n<p>&nbsp;<\/p>\n<p>A sample\u00a0of the translocation (transfer)\u00a0of part\u00a0of chromosomes\u00a016 and 7 (in the\u00a0latter\u00a0case, chromosomes\u00a012 and 18) to\u00a0form derived\u00a0chromosomes:\u00a0the examined material\u00a0in\u00a0these\u00a0cases is peripheral\u00a0blood.<a href=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f1.png\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-2628 size-full aligncenter\" src=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f1.png\" alt=\"\" width=\"716\" height=\"369\" srcset=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f1.png 716w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f1-300x155.png 300w\" sizes=\"auto, (max-width: 716px) 100vw, 716px\" \/><\/a><\/p>\n<p>A sample\u00a0routine\u00a0examination\u00a0of a numerical\u00a0aberration\u00a0of chromosomes\u00a0X, Y\u00a0, 13, 18, 21:\u00a0the examined material\u00a0is\u00a0amniotic\u00a0water.<\/p>\n<p style=\"text-align: center;\"><a href=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f2.png\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-2629\" src=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f2.png\" alt=\"\" width=\"343\" height=\"190\" srcset=\"https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f2.png 343w, https:\/\/www.clg.cz\/wp-content\/uploads\/2018\/09\/f2-300x166.png 300w\" sizes=\"auto, (max-width: 343px) 100vw, 343px\" \/><\/a><\/p>\n<p>[\/vc_column_text][vc_empty_space][vc_column_text]<\/p>\n<h2>Examination by QF PCR method<\/h2>\n<p>&nbsp;<\/p>\n<p><strong>Molecular genetic examination (QF\u00a0PCR)\u00a0<\/strong>is a method performed in patients at high risk of fetal chromosomal abnormalities (older age, positive biochemical screening,\u00a0ultrasound\u00a0fetal\u00a0abnormalities,\u00a0etc.).<strong>\u00a0<\/strong><\/p>\n<p>The fetal DNA is obtained from chorionic villus collection (CVS) or amniotic fluid (AC).\u00a0The QF-PCR\u00a0method\u00a0(quantitative fluorescent\u00a0PCR) allows for rapid prenatal detection of aneuploidies for chromosomes, most frequently 13, 18, 21, X and Y. The polymerase reaction with fluorescently labeled\u00a0primers\u00a0allows for the separation and quantification of specific markers on an automated genetic analyzer.\u00a0The mother\u2019s DNA is also analyzed for comparison.<\/p>\n<p>The advantage of this examination is its speed and accuracy (results can be processed by the next working day).[\/vc_column_text][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text] Array CGH examination The purpose of this method is to detect small unbalanced rearrangements on chromosomes (losses and gains of genetic material) that cannot be captured by G-banding. Detected rearrangements may cause the patient a serious clinical condition or significantly increase the risk for his\/her descendants due to loss (or over-function or lack of [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-3171","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Examination of amniocenthesis - Centrum l\u00e9ka\u0159sk\u00e9m genetiky - MUDr. David \u010cutka<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.clg.cz\/en\/array-cgh-examination\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Examination of amniocenthesis - Centrum l\u00e9ka\u0159sk\u00e9m genetiky - MUDr. David \u010cutka\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column][vc_column_text] Array CGH examination The purpose of this method is to detect small unbalanced rearrangements on chromosomes (losses and gains of genetic material) that cannot be captured by G-banding. 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