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Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey
OBJECTIVE: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. PATIENTS AND METHODS: Pregnancies, having a diagnosis of fetal CH, detected between January 2010 and October 2016, were included in the study except...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905260/ https://www.ncbi.nlm.nih.gov/pubmed/31867191 http://dx.doi.org/10.4103/JMU.JMU_114_18 |
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author | Aymelek, Huri Sema Oğur, Gönül Tosun, Miğraci Abur, Ümmet Altundağ, Engin Çelik, Handan Kurtoğlu, Emel Malatyalıoğlu, Erdal Akar, Ömer Salih Alper, Tayfun |
author_facet | Aymelek, Huri Sema Oğur, Gönül Tosun, Miğraci Abur, Ümmet Altundağ, Engin Çelik, Handan Kurtoğlu, Emel Malatyalıoğlu, Erdal Akar, Ömer Salih Alper, Tayfun |
author_sort | Aymelek, Huri Sema |
collection | PubMed |
description | OBJECTIVE: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. PATIENTS AND METHODS: Pregnancies, having a diagnosis of fetal CH, detected between January 2010 and October 2016, were included in the study except fetuses having increased nuchal translucency. Fetal age/gender, maternal age, the age of pregnancy, types of fetal malformations, karyotype, and outcomes were evaluated. RESULTS: The average gestational age was 16.2 weeks. Nearly 47% of the pregnancies had multiple congenital anomalies, of which 58% had a chromosomal anomaly. Chromosomal anomaly rate was 68.2% in patients with hydrops fetalis. Aneuploidies were major chromosomal defects. All trisomies were of regular type except one with Robertsonian translocation (46, XY, +13, rob[13;14][q10;q10]). Seventy-four percentage pregnancies were terminated due to either fetal/karyotype anomaly. CONCLUSION: Characteristics of fetal CH were similar in different ethnical backgrounds. Aneuploidy is the dominant chromosomal constitution of fetal CH. Little information was known about the genes involved. Gene dosage effect implies that fetal CH is a complex genetic situation involving multiple genes interactions. For proper genetic counseling, each fetus with CH should be karyotyped, and fetal ultrasound examination should be performed. In the case of normal chromosome set, application of aCGH should be considered. |
format | Online Article Text |
id | pubmed-6905260 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-69052602019-12-20 Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey Aymelek, Huri Sema Oğur, Gönül Tosun, Miğraci Abur, Ümmet Altundağ, Engin Çelik, Handan Kurtoğlu, Emel Malatyalıoğlu, Erdal Akar, Ömer Salih Alper, Tayfun J Med Ultrasound Original Article OBJECTIVE: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey. PATIENTS AND METHODS: Pregnancies, having a diagnosis of fetal CH, detected between January 2010 and October 2016, were included in the study except fetuses having increased nuchal translucency. Fetal age/gender, maternal age, the age of pregnancy, types of fetal malformations, karyotype, and outcomes were evaluated. RESULTS: The average gestational age was 16.2 weeks. Nearly 47% of the pregnancies had multiple congenital anomalies, of which 58% had a chromosomal anomaly. Chromosomal anomaly rate was 68.2% in patients with hydrops fetalis. Aneuploidies were major chromosomal defects. All trisomies were of regular type except one with Robertsonian translocation (46, XY, +13, rob[13;14][q10;q10]). Seventy-four percentage pregnancies were terminated due to either fetal/karyotype anomaly. CONCLUSION: Characteristics of fetal CH were similar in different ethnical backgrounds. Aneuploidy is the dominant chromosomal constitution of fetal CH. Little information was known about the genes involved. Gene dosage effect implies that fetal CH is a complex genetic situation involving multiple genes interactions. For proper genetic counseling, each fetus with CH should be karyotyped, and fetal ultrasound examination should be performed. In the case of normal chromosome set, application of aCGH should be considered. Wolters Kluwer - Medknow 2019-04-10 /pmc/articles/PMC6905260/ /pubmed/31867191 http://dx.doi.org/10.4103/JMU.JMU_114_18 Text en Copyright: © 2019 Journal of Medical Ultrasound http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Original Article Aymelek, Huri Sema Oğur, Gönül Tosun, Miğraci Abur, Ümmet Altundağ, Engin Çelik, Handan Kurtoğlu, Emel Malatyalıoğlu, Erdal Akar, Ömer Salih Alper, Tayfun Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey |
title | Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey |
title_full | Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey |
title_fullStr | Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey |
title_full_unstemmed | Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey |
title_short | Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey |
title_sort | genetic burden and outcome of cystic hygromas detected antenatally: results of 93 pregnancies from a single center in the northern region of turkey |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905260/ https://www.ncbi.nlm.nih.gov/pubmed/31867191 http://dx.doi.org/10.4103/JMU.JMU_114_18 |
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