PMID- 29929010 OWN - NLM STAT- MEDLINE DCOM- 20190305 LR - 20190305 IS - 1878-0849 (Electronic) IS - 1769-7212 (Linking) VI - 62 IP - 2 DP - 2019 Feb TI - Detection of fetal subchromosomal aberration with cell-free DNA screening led to diagnosis of parental translocation: Review of 11344 consecutive cases in a university hospital. PG - 115-123 LID - S1769-7212(17)30330-0 [pii] LID - 10.1016/j.ejmg.2018.06.012 [doi] AB - 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. CI - Copyright (c) 2018 Elsevier Masson SAS. All rights reserved. FAU - Qian, Ye-Qing AU - Qian YQ AD - 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. FAU - Wang, Xiao-Qing AU - Wang XQ AD - 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. FAU - Chen, Min AU - Chen M AD - 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. FAU - Luo, Yu-Qin AU - Luo YQ AD - 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. FAU - Yan, Kai AU - Yan K AD - 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. FAU - Yang, Yan-Mei AU - Yang YM AD - 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. FAU - Liu, Bei AU - Liu B AD - 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. FAU - Wang, Li-Ya AU - Wang LY AD - 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. FAU - Huang, Ying-Zhi AU - Huang YZ AD - 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. FAU - Li, Hong-Ge AU - Li HG AD - 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. FAU - Pan, Hang-Yi AU - Pan HY AD - 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. FAU - Jin, Fan AU - Jin F AD - 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. FAU - Dong, Min-Yue AU - Dong MY AD - 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. LA - eng PT - Case Reports PT - Journal Article DEP - 20180619 PL - Netherlands TA - Eur J Med Genet JT - European journal of medical genetics JID - 101247089 RN - 0 (Cell-Free Nucleic Acids) SB - IM MH - Adult MH - Cell-Free Nucleic Acids/*genetics MH - Chromosome Aberrations MH - Chromosome Disorders/diagnosis/epidemiology/*genetics MH - Female MH - Genetic Testing/*methods MH - Hospitals, University/statistics & numerical data MH - Humans MH - Karyotyping/*methods MH - Maternal Serum Screening Tests/*methods MH - Pregnancy OTO - NOTNLM OT - Balanced translocation OT - CfDNA screening OT - Chromosome microarray analysis OT - Fluorescence in situ hybridization EDAT- 2018/06/22 06:00 MHDA- 2019/03/06 06:00 CRDT- 2018/06/22 06:00 PHST- 2017/05/25 00:00 [received] PHST- 2018/01/03 00:00 [revised] PHST- 2018/06/17 00:00 [accepted] PHST- 2018/06/22 06:00 [pubmed] PHST- 2019/03/06 06:00 [medline] PHST- 2018/06/22 06:00 [entrez] AID - S1769-7212(17)30330-0 [pii] AID - 10.1016/j.ejmg.2018.06.012 [doi] PST - ppublish SO - Eur J Med Genet. 2019 Feb;62(2):115-123. doi: 10.1016/j.ejmg.2018.06.012. Epub 2018 Jun 19.