Postnatal outcomes of fetal variants of unknown significance in prenatal CMA: A single-center study.

IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Fetal Diagnosis and Therapy Pub Date : 2024-10-20 DOI:10.1159/000542147
Lizhong Yin, Jing Wang, Bin Zhang, Wenli Wang, Bin Yu
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Abstract

Introduction: Chromosome microarray analysis(CMA) can identify clinically significant microdeletions and microduplications, providing valuable insights into the genetic basis of various disorders. Our study was to evaluate clinical management and prognosis of fetuses with prenatal variants of unknown significance (VOUS) and determine diagnostic approaches for subsequent pregnancies.

Methods: This study included 2,953 fetuses undergoing chromosome microarray analysis (CMA) at the Prenatal Diagnostic Center of Changzhou Maternal and Child Health Care Hospital from January 2018 to December 2022, identifying 162 cases with VOUS. Parent-of-origin testing determined the origin of copy number variations (CNVs). Prenatal genetic counseling was provided, and outcomes were followed for 3-36 months post-birth.

Results: All 162 VOUS cases received prenatal genetic counseling. Among these, 123 continued the pregnancy; 22 chose termination, and 17 were lost to follow-up. Of the continuations, 116 delivered at term, and 7 preterm. Post-birth follow-up showed 5/123 live-born fetuses developed relevant clinical phenotypes. Parent-of-origin testing in 21 cases identified 18 hereditary and 3 de novo variants. Additionally, five subsequent pregnancies were monitored, with two undergoing amniocentesis and three receiving low-risk non-invasive prenatal testing (NIPT), all with positive outcomes.

Conclusion: VOUS, occurring in approximately 5% of cases, require comprehensive prenatal genetic counseling and show generally favorable outcomes. Despite low association with adverse clinical phenotypes, the importance of postnatal follow-up and regular report updates is emphasized to detect potential clinical associations early.

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产前 CMA 中意义不明的胎儿变异的产后结局:一项单中心研究。
简介染色体微阵列分析(CMA)可识别具有临床意义的微缺失和微重复,为了解各种疾病的遗传基础提供有价值的信息。我们的研究旨在评估产前意义不明变异(VOUS)胎儿的临床管理和预后,并确定后续妊娠的诊断方法:本研究纳入了2018年1月至2022年12月在常州市妇幼保健院产前诊断中心接受染色体微阵列分析(CMA)的2953例胎儿,共发现162例VOUS。亲本检测确定了拷贝数变异(CNV)的来源。提供产前遗传咨询,并对出生后3-36个月的结果进行随访:所有 162 例 VOUS 均接受了产前遗传咨询。结果:162 例 VOUS 均接受了产前遗传咨询,其中 123 例继续妊娠,22 例选择终止妊娠,17 例失去随访机会。在继续妊娠的孕妇中,116 人足月分娩,7 人早产。产后随访显示,5/123 的活产胎儿出现了相关的临床表型。对 21 个病例的原发父母进行了检测,发现了 18 个遗传变异和 3 个新生变异。此外,还对五例后续妊娠进行了监测,其中两例进行了羊膜腔穿刺术,三例接受了低风险无创产前检测(NIPT),结果均为阳性:结论:VOUS 的发生率约为 5%,需要进行全面的产前遗传咨询,其结果普遍良好。尽管VOUS与不良临床表型的相关性较低,但强调了产后随访和定期报告更新的重要性,以便及早发现潜在的临床关联。
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来源期刊
Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy 医学-妇产科学
CiteScore
4.70
自引率
9.10%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The first journal to focus on the fetus as a patient, ''Fetal Diagnosis and Therapy'' provides a wide range of biomedical specialists with a single source of reports encompassing the common discipline of fetal medicine.
期刊最新文献
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