Prenatal diagnosis and 47,XXY.

scientific article published on February 2013

Prenatal diagnosis and 47,XXY. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1002/AJMG.C.31356
P8608Fatcat IDrelease_faik6i4wpvhknhidan7m7cmfdq
P698PubMed publication ID23359597
P5875ResearchGate publication ID235381023

P2093author name stringJoe Leigh Simpson
Carole Samango-Sprouse
P2860cites workFirst-trimester or second-trimester screening, or both, for Down's syndromeQ46799629
Klinefelter syndrome: expanding the phenotype and identifying new research directionsQ47388441
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variantsQ50310344
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.Q51349861
First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal bloodQ53751217
Presence of fetal DNA in maternal plasma and serumQ57075132
Executive summaryQ57839617
ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal AbnormalitiesQ22242787
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic lociQ24632266
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencingQ28742844
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Randomised controlled trial of genetic amniocentesis in 4606 low-risk womenQ34385464
Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophyQ34418944
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyQ34482155
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalitiesQ34497611
Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalitiesQ35856339
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnanciesQ36379133
Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomyQ36406163
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
Invasive procedures for prenatal diagnosis: any future left?Q38022987
Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.Q40028555
Isolating fetal cells from maternal blood. Advances in prenatal diagnosis through molecular technologyQ40775838
Abortion mortality, United States, 1972 through 1987.Q41012829
Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal bloodQ44645735
Comparison of chorion villus sampling and early amniocentesis for karyotyping in 1,492 singleton pregnanciesQ46361605
Chromosomal abnormality rates at amniocentesis and in live-born infantsQ46381824
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factorsQ46446186
P433issue1
P304page(s)64-70
P577publication date2013-02-01
P1433published inAmerican Journal of Medical Genetics Part C: Seminars in Medical GeneticsQ15749239
P1476titlePrenatal diagnosis and 47,XXY.
P478volume163C

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cites work (P2860)
Q27003962Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma
Q26764809Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues
Q24627800SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

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