review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Svetlana A Yatsenko | |
Aleksandar Rajkovic | |||
Urvashi Surti | |||
David G Peters | |||
P2860 | cites work | Update on Procedure-Related Risks for Prenatal Diagnosis Techniques | Q22241937 |
DNA Sequencing versus Standard Prenatal Aneuploidy Screening | Q22250872 | ||
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci | Q24632266 | ||
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood | Q24657306 | ||
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities | Q28296227 | ||
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease | Q28301461 | ||
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies | Q28752220 | ||
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study | Q30414408 | ||
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. | Q30478819 | ||
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. | Q30704921 | ||
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay | Q33265858 | ||
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound | Q33649327 | ||
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma | Q33682367 | ||
Fetal RhD genotyping from maternal plasma | Q33780684 | ||
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution | Q33844453 | ||
Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages | Q33910274 | ||
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study | Q34029044 | ||
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 | ||
Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth | Q61841168 | ||
Enrichment of erythrocytes of fetal origin from adult-fetal blood mixtures via selective hemolysis of adult blood cells: an aid to antenatal diagnosis of hemoglobinopathies | Q67522275 | ||
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 management | Q74233883 | ||
Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience | Q80797568 | ||
Fetal rhesus D mRNA is not detectable in maternal plasma | Q81391735 | ||
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting | Q83395075 | ||
??? | Q94720111 | ||
Fetal DNA in maternal plasma: biology and diagnostic applications | Q34098822 | ||
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing | Q34256640 | ||
Clinical diagnosis by whole-genome sequencing of a prenatal sample | Q34315784 | ||
Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department | Q34333648 | ||
The promise of whole-exome sequencing in medical genetics | Q34382912 | ||
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 women | Q34385464 | ||
Rapid clearance of fetal DNA from maternal plasma | Q34388637 | ||
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy | Q34418944 | ||
Noninvasive prenatal molecular karyotyping from maternal plasma | Q34683906 | ||
High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm | Q34701186 | ||
Karyotype versus microarray testing for genetic abnormalities after stillbirth | Q34966044 | ||
Noninvasive prenatal diagnosis of a fetal microdeletion syndrome | Q35020502 | ||
A microfluidics approach for the isolation of nucleated red blood cells (NRBCs) from the peripheral blood of pregnant women | Q35786191 | ||
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies | Q36379133 | ||
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy | Q36406163 | ||
Chromosomal microarray versus karyotyping for prenatal diagnosis | Q36546668 | ||
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma | Q36595101 | ||
Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review | Q36927303 | ||
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma | Q37010246 | ||
Carrier testing for severe childhood recessive diseases by next-generation sequencing | Q37086582 | ||
Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands | Q37441813 | ||
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis | Q37775574 | ||
Clinical utility of single nucleotide polymorphism arrays | Q37961249 | ||
Non-invasive prenatal testing for aneuploidy: current status and future prospects | Q38114375 | ||
Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic disease | Q39993125 | ||
Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma | Q44554684 | ||
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 findings | Q45333905 | ||
Fetal and perinatal mortality, United States, 2005. | Q46334345 | ||
First-trimester or second-trimester screening, or both, for Down's syndrome | Q46799629 | ||
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 plasma | Q47391690 | ||
A randomised trial of two methods of issuing prenatal test results: the ARIA (Amniocentesis Results: Investigation of Anxiety) trial | Q47599164 | ||
Amniocentesis results: investigation of anxiety. The ARIA trial | Q47600441 | ||
The effect of Mendelian disease on human health: a measurement | Q50160885 | ||
Unique monoclonal antibodies specifically bind surface structures on human fetal erythroid blood cells. | Q50488961 | ||
P433 | issue | 1 | |
P304 | page(s) | 44-54 | |
P577 | publication date | 2014-11-28 | |
P1433 | published in | Seminars in Perinatology | Q15763431 |
P1476 | title | Recent advances of genomic testing in perinatal medicine | |
P478 | volume | 39 |
Q58197729 | A Pathologist’s Approach to Nonimmune Hydrops |
Q64113568 | Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis |
Q36312158 | Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing |
Q39251832 | Improving the Health and Well-Being of Adults With Conditions of a Genetic Origin: Views from Professionals, Syndrome Support Groups and Parents |
Q55042995 | Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. |
Q47312945 | Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly |
Q92555536 | Personalized Medicine and the Power of Electronic Health Records |
Q30009184 | Phelan-McDermid Syndrome and SHANK3: Implications for Treatment. |
Q39307767 | Strategies for investigating the maternal-fetal interface in the first trimester of pregnancy: What can we learn about pathology? |
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