Antenatal Ultrasound Findings in Fetus with Down Syndrome
OBJECTIVE: The aim of the present study is to assess the importance and role of the ultrasound imaging in the diagnosis of Down syndrome based on our own experience. STUDY DESIGN: The study was conducted in Erciyes University, Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between...
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| Format: | Article |
| Language: | English |
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Medical Network
2016-04-01
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| Series: | Gynecology Obstetrics & Reproductive Medicine |
| Subjects: | |
| Online Access: | http://gorm.com.tr/index.php/GORM/article/view/120 |
| _version_ | 1797912580078960640 |
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| author | Mehmet Serdar KÜTÜK Mahmut Tuncay ÖZGÜN Mehmet Dolanbay Gülsüm Uysal Aslı Uzak Elif Kulengir Semih Uludağ Mustafa Başbuğ |
| author_facet | Mehmet Serdar KÜTÜK Mahmut Tuncay ÖZGÜN Mehmet Dolanbay Gülsüm Uysal Aslı Uzak Elif Kulengir Semih Uludağ Mustafa Başbuğ |
| author_sort | Mehmet Serdar KÜTÜK |
| collection | DOAJ |
| description | OBJECTIVE: The aim of the present study is to assess the importance and role of the ultrasound imaging in the diagnosis of Down syndrome based on our own experience.
STUDY DESIGN: The study was conducted in Erciyes University, Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010-2012. The data of 67 fetus prenatally diagnosed as Down syndrome were analyzed retrospectively with special emphasizes on ultrasound findings.
RESULTS: A total of 67 women were included in the study. The main maternal age 33.5 (min-max: 18-46). The most common indication for invasive testing was advanced maternal age (23.8%). The invasive testing consisted of chorionic villus sampling (10.4%), amniocentesis (83.5%), and cordocentesis (5.9%). In 54 patients, the ultrasonographic evaluation revealed major malformation and/or Down syndrome marker (80.5%), and 38 cases had more than one marker/malformation (56.7%). The most common Down syndrome marker was mild pyelectasia (25.3%), and the most common major congenital anomaly was atrioventricular canal defect that was seen in six fetuses (8.9%).
CONCLUSION: Despite improvement in ultrasound technology and experiences, no anomaly and/or aneuploidy marker can be detected with ultrasound in a considerable proportion of fetus with Down syndrome. Therefore, invasive prenatal testing should be standard of care in the presence of abnormal serum screening for Down syndrome and/or in pregnant women of advanced maternal age. |
| first_indexed | 2024-04-10T11:58:08Z |
| format | Article |
| id | doaj.art-5595ce88b6114d418f8ee3c3c84f8dcb |
| institution | Directory Open Access Journal |
| issn | 1300-4751 |
| language | English |
| last_indexed | 2024-04-10T11:58:08Z |
| publishDate | 2016-04-01 |
| publisher | Medical Network |
| record_format | Article |
| series | Gynecology Obstetrics & Reproductive Medicine |
| spelling | doaj.art-5595ce88b6114d418f8ee3c3c84f8dcb2023-02-15T16:16:44ZengMedical NetworkGynecology Obstetrics & Reproductive Medicine1300-47512016-04-0120162Antenatal Ultrasound Findings in Fetus with Down SyndromeMehmet Serdar KÜTÜK0Mahmut Tuncay ÖZGÜN1Mehmet Dolanbay2Gülsüm Uysal3Aslı Uzak4Elif Kulengir5Semih Uludağ6Mustafa Başbuğ7Erciyes University Faculty of Medicine, KayseriErciyes University Faculty of Medicine, KayseriErciyes University Faculty of Medicine, KayseriErciyes University Faculty of MedicineErciyes University Faculty of MedicineErciyes University Faculty of MedicineErciyes University Faculty of MedicineErciyes University Faculty of MedicineOBJECTIVE: The aim of the present study is to assess the importance and role of the ultrasound imaging in the diagnosis of Down syndrome based on our own experience. STUDY DESIGN: The study was conducted in Erciyes University, Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010-2012. The data of 67 fetus prenatally diagnosed as Down syndrome were analyzed retrospectively with special emphasizes on ultrasound findings. RESULTS: A total of 67 women were included in the study. The main maternal age 33.5 (min-max: 18-46). The most common indication for invasive testing was advanced maternal age (23.8%). The invasive testing consisted of chorionic villus sampling (10.4%), amniocentesis (83.5%), and cordocentesis (5.9%). In 54 patients, the ultrasonographic evaluation revealed major malformation and/or Down syndrome marker (80.5%), and 38 cases had more than one marker/malformation (56.7%). The most common Down syndrome marker was mild pyelectasia (25.3%), and the most common major congenital anomaly was atrioventricular canal defect that was seen in six fetuses (8.9%). CONCLUSION: Despite improvement in ultrasound technology and experiences, no anomaly and/or aneuploidy marker can be detected with ultrasound in a considerable proportion of fetus with Down syndrome. Therefore, invasive prenatal testing should be standard of care in the presence of abnormal serum screening for Down syndrome and/or in pregnant women of advanced maternal age.http://gorm.com.tr/index.php/GORM/article/view/120Down syndrome, Ultrasonography, Prenatal diagnosis |
| spellingShingle | Mehmet Serdar KÜTÜK Mahmut Tuncay ÖZGÜN Mehmet Dolanbay Gülsüm Uysal Aslı Uzak Elif Kulengir Semih Uludağ Mustafa Başbuğ Antenatal Ultrasound Findings in Fetus with Down Syndrome Gynecology Obstetrics & Reproductive Medicine Down syndrome, Ultrasonography, Prenatal diagnosis |
| title | Antenatal Ultrasound Findings in Fetus with Down Syndrome |
| title_full | Antenatal Ultrasound Findings in Fetus with Down Syndrome |
| title_fullStr | Antenatal Ultrasound Findings in Fetus with Down Syndrome |
| title_full_unstemmed | Antenatal Ultrasound Findings in Fetus with Down Syndrome |
| title_short | Antenatal Ultrasound Findings in Fetus with Down Syndrome |
| title_sort | antenatal ultrasound findings in fetus with down syndrome |
| topic | Down syndrome, Ultrasonography, Prenatal diagnosis |
| url | http://gorm.com.tr/index.php/GORM/article/view/120 |
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