How to Manage Low Estriol Levels in Pregnancies, One Center Experience
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 sulf...
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Galenos Publishing House
2022-03-01
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| Series: | Medeniyet Medical Journal |
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| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-22747 |
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| author | Elif YILMAZ GULEC Alper GEZDIRICI Akif AYAZ Fatma Nihal OZTURK Ibrahim POLAT |
| author_facet | Elif YILMAZ GULEC Alper GEZDIRICI Akif AYAZ Fatma Nihal OZTURK Ibrahim POLAT |
| author_sort | Elif YILMAZ GULEC |
| collection | DOAJ |
| description | 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.
Methods: 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.
Results: 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.
Conclusions: 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. |
| format | Article |
| id | doaj-art-dadf8d1db1394435845422af11a7ea90 |
| institution | Kabale University |
| issn | 2149-2042 2149-4606 |
| language | English |
| publishDate | 2022-03-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Medeniyet Medical Journal |
| spelling | doaj-art-dadf8d1db1394435845422af11a7ea902025-01-30T07:15:45ZengGalenos Publishing HouseMedeniyet Medical Journal2149-20422149-46062022-03-01371627010.4274/MMJ.galenos.2022.22747MEDJ-22747How to Manage Low Estriol Levels in Pregnancies, One Center ExperienceElif YILMAZ GULEC0Alper GEZDIRICI1Akif AYAZ2Fatma Nihal OZTURK3Ibrahim POLAT4Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, TurkeyUniversity of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Medical Genetics, Istanbul, TurkeyIstanbul Medipol University Faculty of Medicine, Department of Medical Genetics, Istanbul, TurkeyUniversity of Health Sciences Turkey, Istanbul Haseki Training and Research Hospital, Clinic of Medical Genetics, Istanbul, TurkeyUniversity of Health Sciences Turkey, Basaksehir Cam and Sakura City Hospital, Clinic of Obstetrics and Gynecology, Division of Perinatology, Istanbul, TurkeyObjective: 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. Methods: 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. Results: 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. Conclusions: 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-22747genetic counselinglow unconjugated estriolmaternal serum screeningprenatal cytogeneticssmith lemli opitz syndromesteroid sulfatase deficiency |
| spellingShingle | Elif YILMAZ GULEC Alper GEZDIRICI Akif AYAZ Fatma Nihal OZTURK Ibrahim POLAT How to Manage Low Estriol Levels in Pregnancies, One Center Experience Medeniyet Medical Journal genetic counseling low unconjugated estriol maternal serum screening prenatal cytogenetics smith lemli opitz syndrome steroid sulfatase deficiency |
| title | How to Manage Low Estriol Levels in Pregnancies, One Center Experience |
| title_full | How to Manage Low Estriol Levels in Pregnancies, One Center Experience |
| title_fullStr | How to Manage Low Estriol Levels in Pregnancies, One Center Experience |
| title_full_unstemmed | How to Manage Low Estriol Levels in Pregnancies, One Center Experience |
| title_short | How to Manage Low Estriol Levels in Pregnancies, One Center Experience |
| title_sort | how to manage low estriol levels in pregnancies one center experience |
| topic | genetic counseling low unconjugated estriol maternal serum screening prenatal cytogenetics smith lemli opitz syndrome steroid sulfatase deficiency |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-22747 |
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