Prenatal diagnosis of fetuses with increased nuchal translucency using an approach based on quantitative fluorescent polymerase chain reaction and genomic microarray

European Journal of Obstetrics, Gynecology, and Reproductive Biology
Min PanDong Zhi Li

Abstract

To assess the clinical value of prenatal diagnosis of fetuses with increased nuchal translucency (NT) using an approach based on quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray (CMA). From January 2013 to October 2014, we included 175 pregnancies with fetal NT ≥ 3.5mm at 11-13 weeks' gestation who received chorionic villus sampling. QF-PCR was first used to rapidly detect common aneuploidies. The cases with a normal QF-PCR result were analyzed by CMA. Of the 175 cases, common aneuploidies were detected by QF-PCR in 53 (30.2%) cases (30 cases of trisomy 21, 12 cases of monosomy X, 7 cases of trisomy 18, 3 cases of trisomy 13 and 1 case of 47, XXY). Among the 122 cases with a normal QF-PCR result, microarray detected additional pathogenic copy number variants (CNVs) in 5.7% (7/122) of cases. Four cases would have expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving three cases (2.5%; 3/118) with pathogenic CNVs only detectable by CMA. It is rational to use a diagnostic strategy in which CMA is preceded by the less expensive, rapid, QF-PCR to detect common aneuploidies. CMA allows detection of a number of pathogenic chromosomal aberra...Continue Reading

References

Oct 30, 2004·Human Reproduction Update·Umberto NicoliniThe-Hung Bui
Jan 6, 2006·Obstetrics and Gynecology·Karl Oliver KaganKypros H Nicolaides
Feb 10, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Lisa G Shaffer, The-Hung Bui
Feb 28, 2009·Prenatal Diagnosis·Daniela GiardinoLeda Dalprà
Dec 3, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K V SchouK Sundberg
Feb 15, 2011·Seminars in Fetal & Neonatal Medicine·Brigitte H W FaasThe-Hung Bui
Mar 15, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·T Y LeungK W Choy
May 27, 2011·Journal of Human Genetics·Arivudainambi RamalingamShihui Yu
Apr 3, 2012·Prenatal Diagnosis·Kathy Mann, Caroline Mackie Ogilvie
Dec 12, 2012·The New England Journal of Medicine·Ronald J WapnerLaird Jackson
Feb 13, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·F ScottA McLennan
Apr 5, 2013·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·C Liao, D-Z Li
Jul 31, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M C de WitA T J I Go
Jan 31, 2014·Human Molecular Genetics·Keren J CarssMatthew E Hurles
Apr 11, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J HuangK H Nicolaides
Nov 14, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·I C B LundE M Vestergaard
Apr 23, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M GrandeA Borrell
Aug 16, 2015·Prenatal Diagnosis·Suzanne DruryLyn S Chitty

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Citations

Mar 11, 2018·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Yu YangDong-Zhi Li
Aug 21, 2018·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·Min PanCan Liao
May 23, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P SinajonK Chong
Sep 10, 2016·Molecular Cytogenetics·Malgorzata I SrebniakDiane Van Opstal
Jan 1, 2017·Journal of Medical Ultrasound·Yen-Ni ChenShin-Wen Chen

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