Ye-Qing Qian1, Xiao-Qing Wang1, Min Chen1, Yu-Qin Luo1, Kai Yan1, Yan-Mei Yang1, Bei Liu1, Li-Ya Wang1, Ying-Zhi Huang1, Hong-Ge Li1, Hang-Yi Pan1, Fan Jin1, Min-Yue Dong2. 1. Women's Hospital, School of Medicine Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang, 310006, PR China; Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1 Xueshi Road, Hangzhou, Zhejiang, 310006, PR China; Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang, 310006, PR China. 2. Women's Hospital, School of Medicine Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang, 310006, PR China; Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, 1 Xueshi Road, Hangzhou, Zhejiang, 310006, PR China; Key Laboratory of Women's Reproductive Health of Zhejiang Province, 1, Xueshi Road, Hangzhou, Zhejiang, 310006, PR China. Electronic address: dongmy@zju.edu.cn.
Abstract
BACKGROUND: Fetal chromosome aberrations and sub-chromosomal copy number variations (CNVs) are not rare. There are several ways to detect duplications and deletions; cell-free DNA screening (cfDNA screening) is nowadays an accurate and safe detection method. The objective of this study is to report the feasibility of cfDNA screening as an indicator of parental balanced chromosome translocation. RESULTS: From February 2015 to March 2016, cfDNA screening was offered to 11344 pregnant women. 137 out of 11344 individuals tested positive for aneuploidies using cfDNA screening were confirmed by karyotyping. 6 additional cases also tested positive for other deletion/duplication were confirmed by chromosomal microarray analysis (CMA). 11201 patients tested negative and 10342 of them were confirmed through interviews after delivery. Among the 137 cases that were screened positive in cfDNA screening, 91 were common trisomies (63 cases of trisomy 21, 25 cases of trisomy 18 and 3 cases of trisomy 13) and 46 cases were positive for sex-chromosomal abnormalities. In addition, 6 cases were positive for other deletion/duplication in which 2 were identified as terminal duplication and deletion on different chromosomes. The cfDNA screening findings were confirmed by CMA or karyotyping, and the origins of CNVs were validated afterward by karyotyping or fluorescence in situ hybridization (FISH) using parental blood samples. CONCLUSION: CfDNA screening may help identify deletions and duplications in fetus, which in some cases may indicate risk of a parent being a balanced rearrangement carrier, and that the diagnostic follow-up testing is necessary.
BACKGROUND: Fetal chromosome aberrations and sub-chromosomal copy number variations (CNVs) are not rare. There are several ways to detect duplications and deletions; cell-free DNA screening (cfDNA screening) is nowadays an accurate and safe detection method. The objective of this study is to report the feasibility of cfDNA screening as an indicator of parental balanced chromosome translocation. RESULTS: From February 2015 to March 2016, cfDNA screening was offered to 11344 pregnant women. 137 out of 11344 individuals tested positive for aneuploidies using cfDNA screening were confirmed by karyotyping. 6 additional cases also tested positive for other deletion/duplication were confirmed by chromosomal microarray analysis (CMA). 11201 patients tested negative and 10342 of them were confirmed through interviews after delivery. Among the 137 cases that were screened positive in cfDNA screening, 91 were common trisomies (63 cases of trisomy 21, 25 cases of trisomy 18 and 3 cases of trisomy 13) and 46 cases were positive for sex-chromosomal abnormalities. In addition, 6 cases were positive for other deletion/duplication in which 2 were identified as terminal duplication and deletion on different chromosomes. The cfDNA screening findings were confirmed by CMA or karyotyping, and the origins of CNVs were validated afterward by karyotyping or fluorescence in situ hybridization (FISH) using parental blood samples. CONCLUSION: CfDNA screening may help identify deletions and duplications in fetus, which in some cases may indicate risk of a parent being a balanced rearrangement carrier, and that the diagnostic follow-up testing is necessary.
Authors: Yuqin Luo; Min Shen; Yixi Sun; Yeqing Qian; Liya Wang; Jialing Yu; Junjie Hu; Fan Jin; Minyue Dong Journal: Zhejiang Da Xue Xue Bao Yi Xue Ban Date: 2019-06-25