. 2022; 37(1): 62-70 | DOI: 10.4274/MMJ.galenos.2022.22747 | |||
How to Manage Low Estriol Levels in Pregnancies, One Center ExperienceElif YILMAZ GULEC1, Alper GEZDIRICI2, Akif AYAZ3, Fatma Nihal OZTURK4, Ibrahim POLAT51Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey2University of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Medical Genetics, Istanbul, Turkey 3Istanbul Medipol University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey 4University of Health Sciences Turkey, Istanbul Haseki Training and Research Hospital, Clinic of Medical Genetics, Istanbul, Turkey 5University of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Obstetrics and Gynecology, Division of Perinatology, Istanbul, Turkey Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ichthyosis, a microdeletion syndrome with mild ichthyosis, which causes steroid sulfatase (STS) deficiency, is the most common genetic cause, second-trimester screening tests calculate the risk for a less common and severe disorder known as the Smith Lemli Opitz syndrome (SLOS). We aimed to investigate the outcomes of pregnancies with low uE3 levels in Down syndrome screening and emphasize the high prevalence of STS deficiency instead of SLOS in such cases. Gebeliklerde Düşük Östriyol Düzeyleri Nasıl Yönetilir, Tek Merkez DeneyimiElif YILMAZ GULEC1, Alper GEZDIRICI2, Akif AYAZ3, Fatma Nihal OZTURK4, Ibrahim POLAT51Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey2University of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Medical Genetics, Istanbul, Turkey 3Istanbul Medipol University Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey 4University of Health Sciences Turkey, Istanbul Haseki Training and Research Hospital, Clinic of Medical Genetics, Istanbul, Turkey 5University of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Obstetrics and Gynecology, Division of Perinatology, Istanbul, Turkey Amaç: İkinci trimester Down sendromu tarama testlerindeki düşük östriyol (uE3) seviyesi, fetal ölüm, konjenital anormallikler veya fetüsün çeşitli genetik hormonal bozukluklarından kaynaklanabilir. Steroid sülfataz (STS) eksikliğine neden olan ve hafif iktiyozla seyreden bir mikrodelesyon sendromu olan X’e bağlı iktiyoz en yaygın genetik neden olmasına rağmen, ikinci trimester tarama testleri daha az yaygın ve daha şiddetli bir hastalık olan Smith Lemli Opitz Sendromu (SLOS) için risk hesaplamaktadır. Down sendromu taramasında uE3 düzeyi düşük olan gebeliklerin sonuçlarını araştırmayı ve bu gibi durumlarda SLOS yerine STS eksikliğinin yüksek prevalansını vurgulamayı amaçladık. Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT. How to Manage Low Estriol Levels in Pregnancies, One Center Experience. . 2022; 37(1): 62-70 Corresponding Author: Elif YILMAZ GULEC, Türkiye |
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