Microarray analysis of cell-free fetal DNA in amniotic fluid: a prenatal molecular karyotype

American Journal of Human Genetics
Paige B LarrabeeDiana W Bianchi

Abstract

Metaphase karyotype analysis of fetal cells obtained by amniocentesis or chorionic villus sampling is the current standard for prenatal cytogenetic diagnosis, particularly for the detection of trisomy 21. We previously demonstrated that large quantities of cell-free fetal DNA (cffDNA) are easily extracted from amniotic fluid (AF). In this study, we explored potential clinical applications of AF cffDNA by testing its ability to hybridize to DNA microarrays for comparative genomic hybridization (CGH) analysis. cffDNA isolated from 11 male fetuses showed significantly increased hybridization signals on SRY and decreased signals on X-chromosome markers, compared with female reference DNA. cffDNA isolated from six female fetuses showed the reverse when compared with male reference DNA. cffDNA from three fetuses with trisomy 21 had increased hybridization signals on the majority of the chromosome 21 markers, and cffDNA from a fetus with monosomy X (Turner syndrome) had decreased hybridization signals on most X-chromosome markers, compared with euploid female reference DNA. These results indicate that cffDNA extracted from AF can be analyzed using CGH microarrays to correctly identify fetal sex and aneuploidy. This technology facilita...Continue Reading

References

May 17, 2000·Current Opinion in Obstetrics & Gynecology·E Pergament
Feb 13, 2002·American Journal of Medical Genetics·Leslie G Biesecker
Nov 20, 2002·American Journal of Obstetrics and Gynecology·Thomas LeeDiana W Bianchi
Jun 17, 2003·Journal of Medical Genetics·B B A De VriesC van Ravenswaaij-Arts
Sep 13, 2003·Reproduction : the Official Journal of the Society for the Study of Fertility·Maj A HulténBarbara Pertl
Jan 8, 2004·Clinical Chemistry·K C Allen ChanY M Dennis Lo

❮ Previous
Next ❯

Citations

Feb 15, 2005·Prenatal Diagnosis
Nov 23, 2006·Human Genetics·Elif UzTayfun Ozcelik
Sep 24, 2005·European Journal of Medical Genetics·L RickmanM Bobrow
Sep 24, 2005·European Journal of Medical Genetics·Damien SanlavilleSerge Pierrick Romana
Nov 17, 2005·European Journal of Human Genetics : EJHG·William W LockwoodWan L Lam
Jan 5, 2006·European Journal of Human Genetics : EJHG·Ron HochstenbachMartin Poot
Jun 1, 2006·European Journal of Human Genetics : EJHG·Joris Robert Vermeesch, Anita Rauch
Oct 7, 2010·Human Reproduction Update·L Hui, D W Bianchi
Apr 8, 2006·Current Opinion in Obstetrics & Gynecology·Ignatia B Van den Veyver, Arthur L Beaudet
Nov 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dorothy J HuangSinuhe Hahn
Nov 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Trilochan SahooChristine M Eng
Nov 14, 2006·Current Opinion in Pediatrics·Joris A Veltman
Oct 4, 2005·Journal of Medical Genetics·L RickmanM Bobrow
Aug 30, 2005·Annual Review of Genomics and Human Genetics·Daniel Pinkel, Donna G Albertson
Jul 22, 2006·Pediatric Research·Anat Bar-ShiraAvi Orr-Urtreger
Nov 18, 2008·Prenatal Diagnosis·Ignatia B Van den VeyverArthur L Beaudet
Sep 7, 2006·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Sevgi BagislarTayfun Ozcelik
Nov 17, 2006·Annals of the New York Academy of Sciences·Diana W BianchiKirby L Johnson
Sep 17, 2008·Prenatal Diagnosis·Weimin BiLisa D White
Apr 3, 2012·Prenatal Diagnosis·Paul D Brady, Joris R Vermeesch
Jul 29, 2010·Prenatal Diagnosis·Kiyonori MiuraHideaki Masuzaki
May 25, 2010·Obstetrics and Gynecology Clinics of North America·Gary Fruhman, Ignatia B Van den Veyver
Apr 21, 2009·American Journal of Obstetrics and Gynecology·H Christina FanStephen R Quake
Mar 5, 2005·American Journal of Obstetrics and Gynecology·Kenneth J Moise
May 1, 2012·Biochimica Et Biophysica Acta·Andrea G Edlow, Diana W Bianchi
Jun 5, 2016·European Journal of Obstetrics, Gynecology, and Reproductive Biology·Yong Wook JungDong Hyun Cha
Mar 20, 2009·Placenta·N M FiskM H F Sullivan
May 19, 2007·Prenatal Diagnosis·Olav LapaireDiana W Bianchi
Aug 28, 2007·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·T-H Bui
Mar 20, 2018·Pediatric Radiology·Kathryn J Gray, Louise E Wilkins-Haug
Jul 13, 2011·Expert Review of Molecular Diagnostics·Melissa StrassbergIgnatia B Van den Veyver
Feb 15, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Jill L Maron, Diana W Bianchi
Feb 10, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Lisa G Shaffer, The-Hung Bui
Nov 1, 2005·Expert Review of Molecular Diagnostics·Benjamin B RoaSau Wai Cheung

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.