Prenatal diagnosis of cleft lip and palate: a study of clinical utility

Author:

Zhang Yan1,Wang Degang2,Wang Degang3,Lu Jian1,Yin Aihua1,Tan Haowen4,Lu Jiaqi1,Ji Xueqi1,Ding Hongke1,Liu Qian1,Tang Hui1,Wang Limin1,Huang Yanlin1,Zhang Victor Wei5,Wang Chunli5,Liu Fenghua1

Affiliation:

1. Guangdong Women and Children Hospital

2. Boai Hospital of Zhongshan

3. Southern Medical University

4. Aegicare Biotech

5. AmCare genomics laboratory

Abstract

Abstract Background When a fetus was found has cleft lip palate (CL/P) by prenatal anatomical ultrasound assessment, it is difficult to determine the CL/P is isolated or companied with other animalities such as intellectual disability. We preformed comprehensive genetic test to support prenatal genetic counselling for CL/P fetus which is detected by ultrasound screening. Results 105 unrelated fetuses with CL/P were enrolled. After excluding aneuploidy cases, SNP array and clinical exome sequencing (CES) were preformed simultaneously. All the fetuses were followed-up. Fetuses with CL/P were divided into two groups, cleft lip (CL)and cleft palate with or without cleft lip (CP/CLP). The detection rate was 12.4% (13/105) of the cases, in which SNP array contributed 3.8% (4/105) while CES added 8.6% yields. The positive rate of the CL group was lower than that of the CP/CLP group (0% (0/23) versus 15.9% (13/82), P = 0.067). CP/CLP with additional anomalies has higher positive rate than that of the apparently isolated CP/CLP (53.3% (8/15) versus 7.5% (5/67), P < 0.001). Furthermore, midline or bilateral CP/CLP had different yields in subgroups of CP/CLP. The rate of termination of pregnancy in positive group is much higher than that of the negative group (84.6% (11/13) versus 36.9% (31/84)). Conclusions Prenatal diagnosis with SNP array companied with CES was helpful for etiology analysis of fetuses with CL/P. Genetic etiology analysis was more valuable for CP/CLP than for CL. Moreover, SNP array companied with CES could change the clinical outcome for prenatal CL/P fetuses and reduce the residual risk for negative cases.

Publisher

Research Square Platform LLC

Reference24 articles.

1. Radiology of cleft lip and palate: Imaging for the prenatal period and throughout life;Abramson ZR;Radiographics.,2015

2. Practice guideline: Joint ccmg-sogc recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in canada;Armour CM;J Med Genet.,2018

3. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes;Basha M;J Med Genet.,2018

4. Copy number changes identified using whole exome sequencing in nonsyndromic cleft lip and palate in a honduran population;Cai Y;Birth Defects Res.,2017

5. Committee opinion no.682: Microarrays and next-generation sequencing technology: The use of advanced genetic diagnostic tools in obstetrics and gynecology;Committee on G, the Society for Maternal-Fetal M;Obstet Gynecol.,2016

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3