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• W4221008319 abstract "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.Fifteen pregnancies with very low uE3 levels and high risk for trisomy and/or SLOS in screening tests were evaluated and tested for STS deficiency and SLOS.Seven of the pregnancies had STS microdeletion syndrome, while additional two cases were supposed to have STS gene mutation according to family and/or postnatal history. Although one fetal death was recorded, no chromosomal abnormality, SLOS, or congenital malformation was recorded in our series.SLOS is a very severe and rare syndrome. The risk estimation for SLOS in screening tests causes stress for pregnant women and healthcare givers. We recommend the addition of risk estimation for STS deficiency when a low uE3 level is detected in the screening test.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.Tarama testlerinde uE3 seviyeleri çok düşük olan ve trizomi ve/veya SLOS açısından yüksek risk taşıyan on beş gebelik STS eksikliği ve SLOS açısından değerlendirilmiş ve test edilmiştir.Gebeliklerin yedisinde STS mikrodelesyon sendromu bulunurken, ek iki olguda aile ve/veya doğum sonrası öyküye dayanarak STS gen mutasyonu düşünüldü. Bir fetal ölüm tespit edildi. Ek kromozom anomalisi, SLOS veya konjenital malformasyon tespit edilmedi.SLOS çok ağır seyreden ve nadir görülen bir sendromdur. Tarama testlerinde SLOS için risk tahmini hamileler ve sağlık çalışanları için strese neden olmaktadır. Anksiyeteyi önlemek için tarama testlerinde düşük bir uE3 seviyesi tespit edildiğinde STS eksikliği için risk tahmininin eklenmesini öneririz." @default.
• W4221008319 created "2022-04-03" @default.
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• W4221008319 date "2022-03-18" @default.
• W4221008319 modified "2023-10-04" @default.
• W4221008319 title "How to Manage Low Estriol Levels in Pregnancies, One Center Experience" @default.
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• W4221008319 doi "https://doi.org/10.4274/mmj.galenos.2022.22747" @default.
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