Recent advances of genomic testing in perinatal medicine

scientific article published on 28 November 2014

Recent advances of genomic testing in perinatal medicine is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1053/J.SEMPERI.2014.10.009
P932PMC publication ID4883661
P698PubMed publication ID25444417

P2093author name stringSvetlana A Yatsenko
Aleksandar Rajkovic
Urvashi Surti
David G Peters
P2860cites workUpdate on Procedure-Related Risks for Prenatal Diagnosis TechniquesQ22241937
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative studyQ30414408
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.Q30478819
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Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assayQ33265858
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasoundQ33649327
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasmaQ33682367
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Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.Q54390352
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Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirthQ61841168
Enrichment of erythrocytes of fetal origin from adult-fetal blood mixtures via selective hemolysis of adult blood cells: an aid to antenatal diagnosis of hemoglobinopathiesQ67522275
Detection and isolation of fetal cells from maternal blood using the flourescence-activated cell sorter (FACS)Q70257213
Maternal anxiety induced by prenatal diagnostic techniques: detection and managementQ74233883
Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experienceQ80797568
Fetal rhesus D mRNA is not detectable in maternal plasmaQ81391735
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
???Q94720111
Fetal DNA in maternal plasma: biology and diagnostic applicationsQ34098822
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Clinical diagnosis by whole-genome sequencing of a prenatal sampleQ34315784
Prevalence and patterns of presentation of genetic disorders in a pediatric emergency departmentQ34333648
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Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Randomised controlled trial of genetic amniocentesis in 4606 low-risk womenQ34385464
Rapid clearance of fetal DNA from maternal plasmaQ34388637
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophyQ34418944
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High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithmQ34701186
Karyotype versus microarray testing for genetic abnormalities after stillbirthQ34966044
Noninvasive prenatal diagnosis of a fetal microdeletion syndromeQ35020502
A microfluidics approach for the isolation of nucleated red blood cells (NRBCs) from the peripheral blood of pregnant womenQ35786191
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Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomyQ36406163
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasmaQ36595101
Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic reviewQ36927303
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Carrier testing for severe childhood recessive diseases by next-generation sequencingQ37086582
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the NetherlandsQ37441813
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysisQ37775574
Clinical utility of single nucleotide polymorphism arraysQ37961249
Non-invasive prenatal testing for aneuploidy: current status and future prospectsQ38114375
Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic diseaseQ39993125
Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasmaQ44554684
Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.Q45026733
Application of chromosomal microarray in the evaluation of abnormal prenatal findingsQ45333905
Fetal and perinatal mortality, United States, 2005.Q46334345
First-trimester or second-trimester screening, or both, for Down's syndromeQ46799629
Cell-free DNA in maternal plasma: is it all a question of size?Q47313732
Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasmaQ47391690
A randomised trial of two methods of issuing prenatal test results: the ARIA (Amniocentesis Results: Investigation of Anxiety) trialQ47599164
Amniocentesis results: investigation of anxiety. The ARIA trialQ47600441
The effect of Mendelian disease on human health: a measurementQ50160885
Unique monoclonal antibodies specifically bind surface structures on human fetal erythroid blood cells.Q50488961
P433issue1
P304page(s)44-54
P577publication date2014-11-28
P1433published inSeminars in PerinatologyQ15763431
P1476titleRecent advances of genomic testing in perinatal medicine
P478volume39

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Q58197729A Pathologist’s Approach to Nonimmune Hydrops
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Q36312158Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing
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Q55042995Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities.
Q47312945Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly
Q92555536Personalized Medicine and the Power of Electronic Health Records
Q30009184Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.
Q39307767Strategies for investigating the maternal-fetal interface in the first trimester of pregnancy: What can we learn about pathology?

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