Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma

Clinical Chemistry
Taylor J JensenMathias Ehrich

Abstract

Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma. Sequencing analysis of such ccf DNA has been shown to enable accurate prenatal detection of fetal aneuploidies, including trisomies of chromosomes 21, 18, and 13. We sought to extend these analyses to examine subchromosomal copy number variants through the sequencing of ccf DNA. We examined a clinically relevant genomic region, chromosome 22q11.2, the location of a series of well-characterized deletion anomalies that cause 22q11.2 deletion syndrome. We sequenced ccf DNA isolated from maternal plasma samples obtained from 2 patients with confirmed 22q11.2 deletion syndrome and from 14 women at low risk for fetal chromosomal abnormalities. The latter samples were used as controls, and the mean genomic coverage was 3.83-fold. Data were aligned to the human genome, repetitive regions were removed, the remaining data were normalized for GC content, and z scores were calculated for the affected region. The median fetal DNA contribution for all samples was 18%, with the affected samples containing 17%-18% fetal DNA. Using a technique similar to that used for sequencing-based fetal an...Continue Reading

References

Jul 20, 2005·The Journal of Pediatrics·Nathaniel H Robin, Robert J Shprintzen
Sep 5, 2006·Prenatal Diagnosis·Lucia BrownStephen Brown
Oct 8, 2008·Proceedings of the National Academy of Sciences of the United States of America·H Christina FanStephen R Quake
Jun 3, 2010·European Journal of Endocrinology·Stefano StagiChiara Azzari
Aug 24, 2010·Clinical Chemistry·Anders O H NygrenMathias Ehrich
Dec 15, 2010·Science Translational Medicine·Y M Dennis LoRossa W K Chiu
Oct 19, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiJacob A Canick
Nov 11, 2011·The New England Journal of Medicine·David PetersAleksandar Rajkovic
Jan 28, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiJacob A Canick

❮ Previous
Next ❯

Citations

Sep 8, 2012·Current Opinion in Hematology·Nancy Bo Yin Tsui, Yuk Ming Dennis Lo
Apr 25, 2013·PloS One·Stephanie C Y YuRossa W K Chiu
Sep 7, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Monica A LutgendorfLisa M Foglia
Apr 30, 2014·Annual Review of Genomics and Human Genetics·Corey T WatsonHeather C Mefford
May 21, 2014·Proceedings of the National Academy of Sciences of the United States of America·Stephanie C Y YuY M Dennis Lo
Mar 29, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Carmen J BeamonNeeta L Vora
Dec 3, 2014·Seminars in Perinatology·David G PetersAleksandar Rajkovic
Feb 3, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L Hui
Jun 2, 2015·Expert Review of Molecular Diagnostics·Karen WouJoe Leigh Simpson
Oct 17, 2015·Annual Review of Medicine·Felix C K Wong, Y M Dennis Lo
Dec 29, 2015·American Journal of Human Genetics·Kitty K LoLyn S Chitty
Jun 3, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R LiC Liao
Jun 15, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P BennE Pergament
Jan 24, 2014·Prenatal Diagnosis·Tianjiao ChuDavid G Peters
Jun 11, 2015·Prenatal Diagnosis·Nilesh G DharajiyaYoshimasa Kamei
Apr 14, 2015·Clinical Genetics·P BradyJ R Vermeesch
Dec 10, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M I SrebniakR-J H Galjaard
Jun 19, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lily VanAnne S Bassett
Dec 6, 2014·American Journal of Obstetrics and Gynecology·Ronald J WapnerPeter Benn
Jan 15, 2013·American Journal of Human Genetics·Anupama SrinivasanRichard P Rava
Aug 1, 2012·Biochimie·Alexandre How KitJörg Tost
Jul 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Graziano PesciaBernard Conrad
Apr 20, 2017·Prenatal Diagnosis·Francesco FiorentinoFrancesca Spinella
Jul 23, 2014·Obstetrics and Gynecology·Neeta L Vora, Barbara M OʼBrien
Apr 26, 2014·Circulation·Mary T DonofrioUNKNOWN American Heart Association Adults With Congenital Heart Disease Joint Committee of the Council on Cardiovascular Disease in

❮ 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.

Related Papers

The New England Journal of Medicine
David PetersAleksandar Rajkovic
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
T K LauXiuqing Zhang
Proceedings of the National Academy of Sciences of the United States of America
Rossa W K ChiuY M Lo
© 2021 Meta ULC. All rights reserved