Prenatal diagnosis of sirenomelia in the first trimester

Medicine Science

Mehmet Tayyar¹  Ayse Disli Gurler¹  Mehmet Baki Senturk²  Hulya Akgun³  Ahmet Tayyar⁴  Ahter Tanay Tayyar⁵ 

[1] Department of Obstetrics and Gynecology, Erciyes University Faculty of Medicine, Kayseri, Turkey;Department of Obstetrics and Gynecology, Zeynep Kamil Maternity and Childrens Training and Research Hospital, Istanbul, Turkey.;Department of Pathology, Erciyes University Faculty of Medicine, Kayseri, Turkey;Obstetrics and Gynecology Private Doctor, Kayseri,Turkey;Department of Obstetrics and Gynecology, Zeynep Kamil Maternity and Childrens Training and Research Hospital, Istanbul, Turkey.;

关键词: Sirenomelia;    prenatal diagnosis;    first trimester;   

DOI  :  10.5455/medscience.2016.05.8511

来源: DOAJ

【 摘 要 】

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 referredfor 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 oppurtunityto the patient more safer and less traumatic termination procedure. [Med-Science 2017; 6(1.000): 125-7]

【 授权许可】

Unknown