Genetic Analysis in Pregnancy with Fetal Pathologic Ultrasound Findings
| Autor: | Ayşegül Türkyılmaz, Selda Şimşek, Halit Akbas, Ahmet Yalinkaya, Turgay Budak, Diclehan Oral, Selahaddin Tekes |
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| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Biotechnology & Biotechnological Equipment. 27:3829-3833 |
| ISSN: | 1314-3530 1310-2818 |
| DOI: | 10.5504/bbeq.2013.0018 |
| Popis: | The aim of this study was to investigate the relationship between fetal abnormal karyotype and fetal abnormal ultrasound examination in pregnancy. A total of 191 women were analyzed for karyotyping after detection of a soft marker or of major malformations at the routine antenatal USG, for the period 2007–2011. A total of 191 amniotic fluid samples were analyzed for chromosome aberrations and the fetal karyotype was abnormal in 24.6% (47/191) of all cases. Among them, 13 cases were with trisomy 21; 5 cases with trisomy 18; 1 case with trisomy 13; 2 cases with triploidy; 7 cases with karyotype of 45, X; 1 case with karyotype 47, XXY; and 18 cases with other abnormal chromosome structures. One hundred and fifty-two karyotyping procedures were done due to the finding of a single sonographic marker. Within this group, 17.1 % of the karyotypes were abnormal. Thirty-nine karyotyping procedures were done due to the finding of a multiple sonographic marker. In this group, 53.8 % of the karyotypes were abn... |
| Databáze: | OpenAIRE |
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