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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...

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Autores principales: Aymelek, Huri Sema, Oğur, Gönül, Tosun, Miğraci, Abur, Ümmet, Altundağ, Engin, Çelik, Handan, Kurtoğlu, Emel, Malatyalıoğlu, Erdal, Akar, Ömer Salih, Alper, Tayfun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
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.
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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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