Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2023-02-10 DOI:10.1186/s13039-022-00633-x

Yanhong Zhou, Siqi Wu, Jin Han, Li Zhen, Xin Yang, Ru Li, Yongling Zhang, Xiangyi Jing, Fucheng Li, Huishu Liu

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引用次数: 0

Abstract

Background: There are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in fetuses with different USMs.

Methods: This study included fetuses with USMs who underwent invasive prenatal diagnosis for karyotype and/or chromosomal microarray (CMA) by categorizing into two groups: a single USM (SUSM) and multiple USMs (MUSMs).

Results: Of the 358 cases with USMs, CSCA occurred in 3.09% (8/259) and 8.08% (8/99) of the SUSM and MUSM groups, respectively (P < 0.05). Of 16 cases identified with CSCA, theoretically 68.75% (11/16) could be detected by karyotype, while 31.25% (5/16) could be recognized only by CMA. Among CSCA cases, the most frequent USM was an absent or hypoplastic nasal bone (62.5%, 10/16). In cases with negative karyotypes and/or CMA, follow-up results were available in 307 cases, including 292 term deliveries, 6 preterm deliveries, 8 terminations of pregnancy due to USMs, and 1 still birth.

Conclusion: MUSMs increased the risk of chromosomal abnormalities. An absent or hypoplastic nasal bone was the most clinically significant marker either alone or in combination with other USMs. Most of SUSM had a good prognosis.

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中国大陆单一医疗中心超声软标记物产前诊断研究

背景:目前对超声软标记(USMs)染色体畸变的研究较少。本研究的目的是确定不同USMs胎儿临床显著性染色体异常(CSCA)的检出率。方法:本研究纳入了有创产前核型和/或染色体微阵列(CMA)诊断的USMs胎儿，将其分为两组:单USM (SUSM)和多USM (musm)。结果:358例USMs中，SUSM组和MUSM组CSCA发生率分别为3.09%(8/259)和8.08% (8/99)(P结论:MUSM增加了染色体异常的风险。鼻骨缺失或发育不良是最具临床意义的标志，无论是单独还是与其他USMs联合。绝大多数急性肾衰患者预后良好。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.