评估妊娠中期筛查试验、超声和羊膜穿刺术在高危病例smith-lemli-optiz综合征诊断中的关系

F. Bahadori, Mina Behdad, A. Vahabi
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摘要

背景与目的:Smith-Lemli-Opitz综合征(SLOs)是一种常染色体隐性遗传的发育障碍。在怀孕期间,如果妊娠中期的筛查试验显示slo风险增加,则进行额外的补充研究,包括超声和羊水基因检测。本研究旨在探讨妊娠中期筛查试验、超声和羊膜穿刺术结果与SLOs发生的关系。材料与方法:本研究为横断面描述性研究。44名转诊至Shahid Motahari医学教育中心的围产科,slo阳性结果的孕妇被纳入研究。测定妊娠中期筛查试验、超声和羊膜穿刺术结果在确认slo和常见IVS8-1G>C突变方面的DHCR7基因表达的相关性。结果:资料显示44例slo高危妊娠中期筛查试验中1例DHCR7基因IVS8-1G>C突变阳性。结论:研究结果表明,虽然阳性筛查试验是新的筛查方法,但基因检测也需要明确的诊断。
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EVALUATION OF THE RELATIONSHIP BETWEEN SECOND TRIMESTER SCREENING TESTS, ULTRASOUND AND AMNIOCENTESIS FINDINGS IN THE DIAGNOSIS OF SMITH-LEMLI-OPTIZ SYNDROME IN HIGH-RISK CASES
Background & Aims : Smith-Lemli-Opitz syndrome (SLOs) is a developmental disorder with an autosomal recessive pattern of inheritance. During pregnancy, if screening tests in the second trimester of pregnancy show an increased risk of SLOs, additional complementary studies including ultrasound and genetic testing on amniotic fluid are performed. This study aimed to investigate the relationship between second trimester screening tests, ultrasound, and amniocentesis findings in SLOs occurrence. Materials & Methods : This study was a cross-sectional descriptive study. 44 pregnant women referred to the perinatology department of Shahid Motahari Medical Education Center with positive results for SLOs were included in the study. The correlation between second trimester screening tests, ultrasound and amniocentesis findings in confirming SLOs as well as DHCR7 gene expression in terms of common IVS8-1G>C mutation were measured. Results : Data showed that one of 44 cases with high-risk second trimester screening test for SLOs was positive for IVS8-1G>C mutation of DHCR7 gene. Conclusion : The findings showed that although positive screening tests are new screening methods for SLOs, genetic tests are also needed for definitive diagnosis.
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