Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.

scientific article published on 23 February 2018

Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1371/JOURNAL.PONE.0193476
P932PMC publication ID5825123
P698PubMed publication ID29474437

P2093author name stringShruti Goel
Harini Ravi
Brynn Levy
Allison Ryan
Zachary P Demko
Nathan Hunkapiller
Gabriel McNeill
Steven D Meltzer
P2860cites workPresence of fetal DNA in maternal plasma and serumQ57075132
Cell-free fetal DNA in maternal circulation after amniocentesisQ73552686
The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcomeQ81376555
Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screeningQ87205083
Practical guidelines for managing patients with 22q11.2 deletion syndromeQ28237543
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesQ28261842
Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromesQ34452242
Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndromeQ34507393
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndromeQ35695641
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplicationsQ36269719
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
22q11.2 deletion syndromeQ36988231
Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testingQ37279297
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndromeQ37340281
Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variantsQ39980269
The effect of chorionic villus sampling on the fraction of cell-free fetal DNA in maternal plasmaQ41202120
The annual incidence of DiGeorge/velocardiofacial syndromeQ41871255
Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletionsQ46081566
Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test.Q46480890
Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT resultsQ48235938
Noninvasive prenatal testing: the paradigm is shifting rapidlyQ48240788
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)e0193476
P577publication date2018-02-23
P1433published inPLOS OneQ564954
P1476titleValidation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.
P478volume13

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cites work (P2860)
Q102061414High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening
Q64232954Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment
Q92905974Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures
Q89966092The Genetics and Epigenetics of 22q11.2 Deletion Syndrome

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