Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
S LiuF Yang

Abstract

To compare the performance of traditional G-banding karyotyping with that of copy number variation sequencing (CNV-Seq) for detection of chromosomal abnormalities associated with miscarriage. Products of conception (POC) were collected from spontaneous miscarriages. Chromosomal abnormalities were detected using high-resolution G-banding karyotyping and CNV sequencing. Quantitative fluorescent polymerase chain reaction analysis of maternal and POC DNA for short tandem repeat (STR) markers was used to both monitor maternal cell contamination and confirm the chromosomal status and sex of the miscarriage tissue. A total of 64 samples of POC, comprising 16 with an abnormal and 48 with a normal karyotype, were selected and coded for analysis by CNV-Seq. CNV-Seq results were concordant for 14 (87.5%) of the 16 gross chromosomal abnormalities identified by karyotyping, including 11 autosomal trisomies and three sex chromosomal aneuploidies (45,X). Of the two discordant results, a 69,XXX polyploidy was missed by CNV-Seq, although supporting STR marker analysis confirmed the triploidy. In contrast, CNV-Seq identified a sample with 45,X karyotype as a 45,X/46,XY mosaic. In the remaining 48 samples of POC with a normal karyotype, CNV-Seq d...Continue Reading

References

Jan 1, 1984·Prenatal Diagnosis·R G Worton, R Stern
Oct 1, 1980·Annals of Human Genetics·T HassoldP A Jacobs
Sep 1, 1994·Clinical Obstetrics and Gynecology·J L Byrne, K Ward
Oct 16, 1999·British Journal of Obstetrics and Gynaecology·S G CarrollP W Soothill
Apr 3, 2001·Nature Reviews. Genetics·T Hassold, P Hunt
Oct 3, 2002·Nature Reviews. Genetics·Barbara J Trask
Jun 9, 2004·Clinical Biochemistry·Dominique F C M Smeets
Oct 1, 2008·Seminars in Reproductive Medicine·Stephen Brown
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Aug 18, 2010·Current Medicinal Chemistry·N Suzumori, M Sugiura-Ogasawara
Feb 12, 2011·Cytogenetic and Genome Research·I Lebedev
Dec 14, 2011·Seminars in Reproductive Medicine·Ruth B LathiJane Tsung Chueh
May 2, 2013·Genomics·Frank S OngJian-Bing Fan
Jun 20, 2013·Journal of Applied Genetics·Chiara Donatella ViaggiM Pierluigi
Aug 22, 2013·Human Molecular Genetics·Jennifer J Johnston, Leslie G Biesecker
Nov 7, 2013·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Leanne Baxter, Nandini Adayapalam
Apr 26, 2014·Genetics and Molecular Biology·Mariluce Riegel
Jul 8, 2014·The Journal of Molecular Diagnostics : JMD·Desheng LiangLingqian Wu

❮ Previous
Next ❯

Citations

Jan 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zirui DongZhengfeng Xu
Sep 21, 2016·Acta Obstetricia Et Gynecologica Scandinavica·Lan YangJingying Xiang
Jul 10, 2019·Journal of Perinatal Medicine·Xiaoxi Zhao, Lin Fu
Apr 29, 2020·Journal of Clinical Laboratory Analysis·Liubing LanZhiyuan Zheng
Apr 8, 2020·Experimental and Therapeutic Medicine·Lan YangJianping Xiao
Jul 12, 2017·Current Protocols in Human Genetics·Zirui DongHui Jiang
Aug 15, 2019·Analytical and Bioanalytical Chemistry·Huan HuangGuoying Zhang
Oct 22, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·H SunY He
Feb 6, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Qingxian ChangYu Lan
Feb 9, 2021·Frontiers in Cardiovascular Medicine·Hairui SunYihua He
Mar 7, 2021·Journal of Personalized Medicine·David Y GoldrichJames R Broach
Jun 1, 2021·Frontiers in Molecular Biosciences·Songchang ChenDaru Lu

❮ Previous
Next ❯

Related Concepts

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.