Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed?
Central nervous system (CNS) abnormalities are often isolated but can accompany various genetic syndromes. In this study, we evaluated conventional karyotype results and associated findings of fetuses that were diagnosed with CNS abnormalities. Cases included in the study were diagnosed with fetal C...
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MDPI AG
2018-02-01
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| Series: | Medical Sciences |
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| Online Access: | http://www.mdpi.com/2076-3271/6/1/10 |
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| author | Emre Ekmekci Emine Demirel Servet Gencdal |
| author_facet | Emre Ekmekci Emine Demirel Servet Gencdal |
| author_sort | Emre Ekmekci |
| collection | DOAJ |
| description | Central nervous system (CNS) abnormalities are often isolated but can accompany various genetic syndromes. In this study, we evaluated conventional karyotype results and associated findings of fetuses that were diagnosed with CNS abnormalities. Cases included in the study were diagnosed with fetal CNS anomalies and underwent conventional karyotyping. Conventional karyotype results of subjects were compared with karyotype results of fetal karyotyped patients as a result of maternal anxiety in a two-year period. In this period, 69 patients were diagnosed with fetal CNS anomalies and 64 of them underwent invasive fetal karyotyping. Of these, 32 patients had isolated CNS anomalies, while 32 were associated with other anomalies. There was no significant difference between karyotype results when compared with the control group (p = 0.76). Apart from some specific anomalies, the aneuploidy rate does not significantly differ between fetuses with CNS anomalies and the control group. Advanced genetic evaluation may provide additional diagnostic benefits, especially for this group. |
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| format | Article |
| id | doaj.art-fe122b5bd9df49c7825be219a72dc3f3 |
| institution | Directory Open Access Journal |
| issn | 2076-3271 |
| language | English |
| last_indexed | 2024-12-11T23:26:24Z |
| publishDate | 2018-02-01 |
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| series | Medical Sciences |
| spelling | doaj.art-fe122b5bd9df49c7825be219a72dc3f32022-12-22T00:46:12ZengMDPI AGMedical Sciences2076-32712018-02-01611010.3390/medsci6010010medsci6010010Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed?Emre Ekmekci0Emine Demirel1Servet Gencdal2Maternal-Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Izmir Katip Celebi University, Izmir 35330, TurkeyMaternal-Fetal Medicine Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Izmir Katip Celebi University, Izmir 35330, TurkeyObstetrics and Gynecology Clinic, Izmir Ataturk Education and Research Hospital, Ministry of Health, Izmir 35330, TurkeyCentral nervous system (CNS) abnormalities are often isolated but can accompany various genetic syndromes. In this study, we evaluated conventional karyotype results and associated findings of fetuses that were diagnosed with CNS abnormalities. Cases included in the study were diagnosed with fetal CNS anomalies and underwent conventional karyotyping. Conventional karyotype results of subjects were compared with karyotype results of fetal karyotyped patients as a result of maternal anxiety in a two-year period. In this period, 69 patients were diagnosed with fetal CNS anomalies and 64 of them underwent invasive fetal karyotyping. Of these, 32 patients had isolated CNS anomalies, while 32 were associated with other anomalies. There was no significant difference between karyotype results when compared with the control group (p = 0.76). Apart from some specific anomalies, the aneuploidy rate does not significantly differ between fetuses with CNS anomalies and the control group. Advanced genetic evaluation may provide additional diagnostic benefits, especially for this group.http://www.mdpi.com/2076-3271/6/1/10aneuploidycentral nervous system anomaliesconventional karyotypingkaryotypeprenatal diagnosis |
| spellingShingle | Emre Ekmekci Emine Demirel Servet Gencdal Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed? Medical Sciences aneuploidy central nervous system anomalies conventional karyotyping karyotype prenatal diagnosis |
| title | Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed? |
| title_full | Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed? |
| title_fullStr | Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed? |
| title_full_unstemmed | Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed? |
| title_short | Conventional Chromosome Analysis of Fetuses with Central Nervous System Anomalies and Associated Anomalies: Is Anything Changed? |
| title_sort | conventional chromosome analysis of fetuses with central nervous system anomalies and associated anomalies is anything changed |
| topic | aneuploidy central nervous system anomalies conventional karyotyping karyotype prenatal diagnosis |
| url | http://www.mdpi.com/2076-3271/6/1/10 |
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