Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance

scientific article published on 6 November 2013

Expanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance is …
instance of (P31):
scholarly articleQ13442814
editorialQ871232

External links are
P356DOI10.1002/BDRA.23195
P932PMC publication ID4519034
P698PubMed publication ID24265126

P2093author name stringCharlotte M Druschel
Stuart K Shapira
Jodi M Jackson
P2860cites workTrisomies 13 and 18: prenatal diagnosis and epidemiologic studies in Hawaii, 1986-1997.Q46355638
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Q50770539
Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.Q51961768
Differential detection of deletion 22q11.2 syndrome by specialty and indication.Q52036970
Presence of fetal DNA in maternal plasma and serumQ57075132
Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observationsQ57492877
Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortionsQ67265730
Antenatal detection of hereditary disordersQ68425739
Chromosome analysis of human amniotic-fluid cellsQ70063171
Study of Down syndrome in 238,942 consecutive birthsQ74584649
Chromosomic diagnosis of mongolismQ78820342
Microarray analysis for constitutional cytogenetic abnormalitiesQ81304481
ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosisQ82958875
THE CHROMOSOME NUMBER OF MANQ22065646
Immunological method for mapping genes on Drosophila polytene chromosomesQ24630484
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemiaQ27861076
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesQ28296227
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesQ28752220
Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probesQ30450044
Quantification of Fetal DNA by Use of Methylation-Based DNA DiscriminationQ30987480
Prevalence of 22q11 microdeletionQ33677732
A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).Q33970028
A new trisomic syndromeQ33970598
A case of human intersexuality having a possible XXY sex-determining mechanismQ34245719
Chromosome studies on normal and leukemic human leukocytesQ34262444
Multiple congenital anomaly caused by an extra autosomeQ34262478
A population study of chromosome 22q11 deletions in infancyQ35261188
Banding analysis of abnormal karyotypes in spontaneous abortionQ35570250
Noninvasive whole-genome sequencing of a human fetus.Q36048523
Prenatal diagnosis: progress through plasma nucleic acidsQ36673937
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysisQ37059519
Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasmaQ38087410
ACMG statement on noninvasive prenatal screening for fetal aneuploidy.Q38096182
Prenatal diagnosis, pregnancy terminations and prevalence of Down syndrome in AtlantaQ38477368
A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the populationQ39653732
The annual incidence of DiGeorge/velocardiofacial syndromeQ41871255
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literatureQ41938125
Q-banding of chromosomes in human spontaneous abortionsQ44440381
Pregnancy outcome distribution and prenatal diagnosis of autosomal abnormalities, Hawaii, 1986-1999.Q44503691
Epidemiology of Down syndrome (Trisomy 21), Hawaii, 1986-97.Q44759524
P433issue11
P921main subjectcytogeneticsQ246128
P304page(s)726-729
P577publication date2013-11-06
P1433published inBirth Defects Research Part A: Clinical and Molecular TeratologyQ15724446
P1476titleExpanding diagnostic testing beyond cytogenetics: implications for birth defects research and surveillance
P478volume97

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