Prenatal diagnosis of sirenomelia in the first trimester

Sirenomelia is a rare and fatal congenital anomaly. Incidence of sirenomelia one in 60,000 to 100,000 live births. Early prenatal diagnosis by first trimester scan should be the aim to minimize the physical and psychiatric trauma related to the termination of pregnancy at advanced gestation. Nullipa...

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Main Authors: Ahter Tanay Tayyar, Ahmet Tayyar, Mehmet Baki Senturk, Ayse Disli Gurler, Hulya Akgun, Mehmet Tayyar
Format: Article
Language:English
Published: Society of Turaz Bilim 2017-03-01
Series:Medicine Science
Subjects:
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=230365
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author Ahter Tanay Tayyar
Ahmet Tayyar
Mehmet Baki Senturk
Ayse Disli Gurler
Hulya Akgun
Mehmet Tayyar
author_facet Ahter Tanay Tayyar
Ahmet Tayyar
Mehmet Baki Senturk
Ayse Disli Gurler
Hulya Akgun
Mehmet Tayyar
author_sort Ahter Tanay Tayyar
collection DOAJ
description Sirenomelia is a rare and fatal congenital anomaly. Incidence of sirenomelia one in 60,000 to 100,000 live births. Early prenatal diagnosis by first trimester scan should be the aim to minimize the physical and psychiatric trauma related to the termination of pregnancy at advanced gestation. Nulliparous woman aged 23 years was referred for evaluation because of absence of legs at 12 weeks 6 days of gestation. The upper half of the fetus appeared normal .The lower extremities appeared to be fused together in fixed extension and mobility at the hip and knee joints was restricted. A single umbilical artery was demonstrated using color dopler, Also, omphalocole was detected and the final diagnosis was sirenomelia. Parents opted for the pregnancy termination due to the lethal prognosis for the fetus. Etiological factors of sirenomelia sequence are still unclear. Several heterogeneous risk factors have been reported, but all of them are debatable. Anomalies of kidneys, significant oligohydramnios and concomitant hypoplasia of the lungs make a very unfavorable prognosis for sirenomelia. Termination of the pregnancy is an option due to a lethal prognosis. It should be offered to the parents when diagnosis of the sirenomelia is made. First trimester diagnosis will give oppurtunity to the patient more safer and less traumatic termination procedure. [Med-Science 2017; 6(1.000): 125-7]
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spelling doaj.art-bf2297612d2940f4a9f6af17d8dc8f302024-02-03T06:40:39ZengSociety of Turaz BilimMedicine Science2147-06342017-03-0161125710.5455/medscience.2016.05.8511230365Prenatal diagnosis of sirenomelia in the first trimesterAhter Tanay Tayyar0Ahmet Tayyar1Mehmet Baki Senturk2Ayse Disli Gurler3Hulya Akgun4Mehmet Tayyar5Department of Obstetrics and Gynecology, Zeynep Kamil Maternity and Childrens Training and Research Hospital, Istanbul, Turkey. Obstetrics and Gynecology Private Doctor, Kayseri,Turkey Department of Obstetrics and Gynecology, Zeynep Kamil Maternity and Childrens Training and Research Hospital, Istanbul, Turkey. Department of Obstetrics and Gynecology, Erciyes University Faculty of Medicine, Kayseri, Turkey Department of Pathology, Erciyes University Faculty of Medicine, Kayseri, Turkey Department of Obstetrics and Gynecology, Erciyes University Faculty of Medicine, Kayseri, TurkeySirenomelia is a rare and fatal congenital anomaly. Incidence of sirenomelia one in 60,000 to 100,000 live births. Early prenatal diagnosis by first trimester scan should be the aim to minimize the physical and psychiatric trauma related to the termination of pregnancy at advanced gestation. Nulliparous woman aged 23 years was referred for evaluation because of absence of legs at 12 weeks 6 days of gestation. The upper half of the fetus appeared normal .The lower extremities appeared to be fused together in fixed extension and mobility at the hip and knee joints was restricted. A single umbilical artery was demonstrated using color dopler, Also, omphalocole was detected and the final diagnosis was sirenomelia. Parents opted for the pregnancy termination due to the lethal prognosis for the fetus. Etiological factors of sirenomelia sequence are still unclear. Several heterogeneous risk factors have been reported, but all of them are debatable. Anomalies of kidneys, significant oligohydramnios and concomitant hypoplasia of the lungs make a very unfavorable prognosis for sirenomelia. Termination of the pregnancy is an option due to a lethal prognosis. It should be offered to the parents when diagnosis of the sirenomelia is made. First trimester diagnosis will give oppurtunity to the patient more safer and less traumatic termination procedure. [Med-Science 2017; 6(1.000): 125-7]http://www.ejmanager.com/fulltextpdf.php?mno=230365Sirenomelia prenatal diagnosisfirst trimester
spellingShingle Ahter Tanay Tayyar
Ahmet Tayyar
Mehmet Baki Senturk
Ayse Disli Gurler
Hulya Akgun
Mehmet Tayyar
Prenatal diagnosis of sirenomelia in the first trimester
Medicine Science
Sirenomelia
prenatal diagnosis
first trimester
title Prenatal diagnosis of sirenomelia in the first trimester
title_full Prenatal diagnosis of sirenomelia in the first trimester
title_fullStr Prenatal diagnosis of sirenomelia in the first trimester
title_full_unstemmed Prenatal diagnosis of sirenomelia in the first trimester
title_short Prenatal diagnosis of sirenomelia in the first trimester
title_sort prenatal diagnosis of sirenomelia in the first trimester
topic Sirenomelia
prenatal diagnosis
first trimester
url http://www.ejmanager.com/fulltextpdf.php?mno=230365
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AT aysedisligurler prenataldiagnosisofsirenomeliainthefirsttrimester
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