title: [Edwards syndrome--most frequent indications for genetic amniocentesis. Analysis of the last 5 years].
abstract: Edwards syndrome (trisomy 18) occurs in 1: 8000 live births and is closely related to the mother's age. Most of the embryos and fetuses with trisomy of 18 chromosome pair undergo natural abortion. Change in number and structure of chromosomes usually takes place spontaneously. However, the incidence of chromosome mutations increases with the presence of mutagenic factors. One of the chemical mutagenic factors is benzopyrene - present in cigarette smoke. Prenatal cytogenetic diagnostic is used for detecting diseases and clinical syndromes conditioned by chromosome aberrations. To this date the "golden standard" of this diagnostic is the assessment of the fetus karyotype by means of analysis of chromosome banding pattern from amniotic fluid-derived cells. The aim of the study was the analysis of indications for genetic amniocenteses carried out in the last 5 years and in case of which trisomy of chromosome 18 (Edwards syndrome) was diagnosed. The analysis covered 1593 results of fetus karyotypes obtained from Cytogenetic Laboratory of the Central Gynecological-Obstetric Clinical Hospital in Poznań over the last 5 years. The study procedure consisted in producing cell culture from amniotic fluid, appliance of appropriate color techniques and thorough microscopic analysis of chromosome banding pattern. As a result of the analysis it was discovered that in 1538 cases the karyotype was normal, and in 55 cases trisomy 18 was diagnosed, which constituted 3% of all cytogenetic tests. The highest number of trisomy 18 cases was noted in 2009 - 19 cases, which constitutes 5% of all tests. In 2010 and 2011 the results included respectively 2% and 3% of diagnosed trisomy 18 (Edwards syndrome). In the last 5 years normal results for karyotypes constituted 87%, in 10% cases other aberrations were diagnosed through cystogenetic tests, whereas 3% of the results have shown trisomy 18 (Edwards syndrome The most frequent indications for performing genetic amniocentesis, as a result of which trisomy 18 was diagnosed, were defects in ultrasound image, including fetal hydrops which constituted 27.3% of all indications. Malformation syndrome in fetus and hydramnion constituted only 9.1% of indications for cytogenetic tests where trisomy 18 was diagnosed. The highest incidence rate of trisomy 18 was diagnosed in fetuses of women aged between 30 and 34. These were followed by 29 fetuses with Edwards syndrome in mothers aged between 25 and 29.
authors: Centralne Laboratorium, Ginekologiczno-Połozniczy Szpital Kliniczny, Uniwersytet Medyczny im. Karola Marcinkowskiego ul. Polna 33, 60-535 Poznań. mchuch@gpsk.am.poznan.pl
authors: Marek
authors: M
authors: Chuchracki
authors: Justyna
authors: J
authors: Janiak
authors: Katarzyna
authors: K
authors: Ziółkowska
authors: Anna
authors: A
authors: Sedziak
authors: Tomasz
authors: T
authors: Opala
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D000328:Adult; D000649:Amniocentesis; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D059785:Karyotype; D007621:Karyotyping; D008423:Maternal Age; D011044:Poland / Q000453:epidemiology; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*