Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.

Journal of Human Genetics
Shoko MiuraTadayuki Ishimaru

Abstract

Cell-free fetal DNA (cffDNA) in the supernatant of amniotic fluid, which is usually discarded, can be used as a sample for prenatal diagnosis. For rapid prenatal diagnosis of frequent chromosome abnormalities, for example trisomies 13, 18, and 21, and monosomy X, using cffDNA, we have developed a targeted microarray-based comparative genomic hybridization (CGH) panel on which BAC clones from chromosomes 13, 18, 21, X, and Y were spotted. Microarray-CGH analysis was performed for a total of 13 fetuses with congenital anomalies using cffDNA from their uncultured amniotic fluid. Microarray CGH with cffDNA led to successful molecular karyotyping for 12 of 13 fetuses within 5 days. Karyotypes of the 12 fetuses (one case of trisomy 13, two of trisomy 18, two of trisomy 21, one of monosomy X, and six of normal karyotype) were later confirmed by conventional chromosome analysis using cultured amniocytes. The one fetus whose molecular-karyotype was indicated as normal by microarray CGH actually had a balanced translocation, 45,XY,der(14;21)(q10;q10). The results indicated that microarray CGH with cffDNA is a useful rapid prenatal diagnostic method at late gestation for chromosome abnormalities with copy-number changes, especially when c...Continue Reading

References

Sep 2, 1999·Nature Genetics·J R PollackP O Brown
Sep 15, 2000·European Journal of Obstetrics, Gynecology, and Reproductive Biology·D W Bianchi
Jan 11, 2001·Archives of Pathology & Laboratory Medicine·I J BarrettD K Kalousek
Nov 16, 2001·Annals of the New York Academy of Sciences·D W Bianchi, Y M Lo
Jan 31, 2002·Clinics in Perinatology·D A Nyberg, V L Souter
Jul 15, 2004·Annals of the New York Academy of Sciences·Tuangsit Wataganara, Diana W Bianchi
Jul 15, 2004·American Journal of Human Genetics·Paige B LarrabeeDiana W Bianchi
Feb 16, 2005·Prenatal Diagnosis·Jae Hyug YangMoon Young Kim
Mar 8, 2005·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Y M Dennis Lo
Mar 8, 2005·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·Joris R VermeeschKoen Devriendt
Mar 11, 2005·Current Opinion in Obstetrics & Gynecology·Tze Kin Lau, Tse Ngong Leung
Jan 19, 2006·American Journal of Medical Genetics. Part a·Noriko MiyakeNaomichi Matsumoto

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Citations

Jul 20, 2007·European Journal of Human Genetics : EJHG·Joris Robert VermeeschOrsetta Zuffardi
Oct 7, 2010·Human Reproduction Update·L Hui, D W Bianchi
Mar 30, 2010·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·P Jonveaux
Dec 28, 2010·Gynécologie, obstétrique & fertilité·F Vialard, D Molina Gomes
Nov 18, 2008·Prenatal Diagnosis·Ignatia B Van den VeyverArthur L Beaudet
Apr 3, 2012·Prenatal Diagnosis·Paul D Brady, Joris R Vermeesch
Jul 29, 2010·Prenatal Diagnosis·Kiyonori MiuraHideaki Masuzaki
Oct 9, 2013·Journal of Ovarian Research·Ghassan HaddadWeihua Wang
Apr 21, 2009·American Journal of Obstetrics and Gynecology·H Christina FanStephen R Quake
May 1, 2012·Biochimica Et Biophysica Acta·Andrea G Edlow, Diana W Bianchi
Nov 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Trilochan SahooChristine M Eng
Nov 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dorothy J HuangSinuhe Hahn
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Eugene Pergament
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
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
Jan 21, 2011·Journal of the American Chemical Society·Hao WuShao Q Yao

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