Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.

IF 2.1 3区 医学 Q2 OBSTETRICS & GYNECOLOGY Archives of Gynecology and Obstetrics Pub Date : 2024-10-21 DOI:10.1007/s00404-024-07789-4
Xiaojin Luo, Xiaohang Chen, Xiaoyi Cong, Hongyan Niu, Fei Zhou, Jinshuang Song, Liang Hu, Yuanyuan Pei, Yanyun Guo
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Abstract

Objective: Analyze the ultrasound findings, single-nucleotide polymorphism array (SNP-array) results, and pregnancy outcomes of fetuses with 17q12 deletions and duplications in the second and third trimesters. Explore the prenatal ultrasound characteristics and pregnancy outcomes of these fetuses.

Methods: Retrospective data were collected for 16 fetuses diagnosed with 17q12 deletion and seven fetuses with 17q12 duplication through SNP-array during prenatal diagnosis at a single Chinese tertiary medical center from January 2017 to December 2023. Maternal demographics, ultrasound findings of the fetuses, SNP-array results, pregnancy outcomes, and follow-up information were reviewed and analyzed. Peripheral blood from the parents was extracted to determine whether the CNVs in the fetuses were inherited or de novo.

Results: The copy-number variation (CNV) sizes ranged from 1.39 to 1.94 Mb in cases of 17q12 deletion and from 1.42 to 1.91 Mb in cases of 17q12 duplication. These CNVs included 15 OMIM genes, such as HNF1B, LHX1, and ACACA. In fetuses with a 17q12 deletion, the primary manifestation was renal abnormalities (93.8%, 15/16). Of these, 13 cases (81.3%, 13/16) exhibited bilateral or unilateral hyperechogenic kidneys, and 12 cases (75%, 12/16) had multicystic hyperechogenic kidneys. Two cases (12.5%, 2/16) showed multiple organ structural abnormalities. In fetuses with a 17q12 duplication, four cases (57.1%, 4/7) revealed cardiovascular system abnormalities, including tetralogy of fallot, pulmonary artery stenosis, ventricular septal defect, and tricuspid regurgitation. Two cases (28.6%, 2/7) presented with upper gastrointestinal obstruction. Additionally, one case was particularly unique, characterized by multiple structural malformations, such as ventricular septal defect, microcephaly, cleft lip, and palate. Nine cases opted for pregnancy termination, and 14 chose to continue the pregnancy. Two cases underwent surgical treatment after birth for upper gastrointestinal obstruction, and the prognosis was good. Among the 10 cases of 17q12 deletion, six cases showed consistent prenatal ultrasound findings and postnatal clinical features. Four cases were found to have discrepancies with prenatal ultrasound findings; while the renal ultrasound phenotype appeared normal during the last follow-up, two of these cases were subsequently diagnosed with neuropsychiatric phenotypes.

Conclusion: Our study expanded the clinical phenotype spectrum of fetuses with 17q12 deletion and duplication, and conducted a preliminary evaluation of prenatal ultrasound findings and postnatal clinical phenotypes in follow-up cases. We further demonstrated a high correlation between fetuses with 17q12 deletion and hyperechogenic, multicystic kidneys. The primary manifestations in fetuses with 17q12 duplication are likely cardiovascular system malformations, which also exhibit a broad spectrum of phenotypic features.

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17q12缺失和重复综合征的产前诊断、超声检查结果和妊娠结局:回顾性病例系列。
目的分析17q12缺失和重复胎儿在第二和第三个孕期的超声检查结果、单核苷酸多态性阵列(SNP-array)结果和妊娠结局。探讨这些胎儿的产前超声特征和妊娠结局:2017年1月至2023年12月,在一家中国三级医疗中心的产前诊断过程中,通过SNP-array收集了16个被诊断为17q12缺失的胎儿和7个17q12重复的胎儿的回顾性数据。研究人员回顾并分析了产妇的人口统计学特征、胎儿的超声检查结果、SNP-阵列结果、妊娠结局以及随访信息。提取了父母的外周血,以确定胎儿的 CNV 是遗传的还是新生的:结果:17q12缺失病例的拷贝数变异(CNV)大小从1.39到1.94 Mb不等,17q12重复病例的拷贝数变异大小从1.42到1.91 Mb不等。这些 CNV 包括 15 个 OMIM 基因,如 HNF1B、LHX1 和 ACACA。在 17q12 缺失的胎儿中,主要表现为肾脏异常(93.8%,15/16 例)。其中,13 例(81.3%,13/16)表现为双侧或单侧低回声肾,12 例(75%,12/16)表现为多囊性低回声肾。两个病例(12.5%,2/16)显示多器官结构异常。在 17q12 重复的胎儿中,4 例(57.1%,4/7)显示心血管系统异常,包括法洛氏四联症、肺动脉狭窄、室间隔缺损和三尖瓣反流。两个病例(28.6%,2/7)出现上消化道梗阻。此外,有一个病例特别特殊,具有多种结构畸形,如室间隔缺损、小头畸形、唇腭裂。9 例选择终止妊娠,14 例选择继续妊娠。2 例在出生后因上消化道梗阻接受了手术治疗,预后良好。在 10 例 17q12 缺失病例中,有 6 例的产前超声检查结果与产后临床特征一致。结论:我们的研究扩大了17q12缺失儿的临床表型范围:我们的研究扩展了 17q12 缺失和重复胎儿的临床表型谱系,并对随访病例的产前超声结果和产后临床表型进行了初步评估。我们进一步证实了 17q12 缺失胎儿与高回声多囊肾之间的高度相关性。17q12 缺失胎儿的主要表现可能是心血管系统畸形,其表型特征也很广泛。
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来源期刊
CiteScore
4.70
自引率
15.40%
发文量
493
审稿时长
1 months
期刊介绍: Founded in 1870 as "Archiv für Gynaekologie", Archives of Gynecology and Obstetrics has a long and outstanding tradition. Since 1922 the journal has been the Organ of the Deutsche Gesellschaft für Gynäkologie und Geburtshilfe. "The Archives of Gynecology and Obstetrics" is circulated in over 40 countries world wide and is indexed in "PubMed/Medline" and "Science Citation Index Expanded/Journal Citation Report". The journal publishes invited and submitted reviews; peer-reviewed original articles about clinical topics and basic research as well as news and views and guidelines and position statements from all sub-specialties in gynecology and obstetrics.
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