Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

scientific article published on 12 March 2019

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies is …
instance of (P31):
scholarly articleQ13442814

External links are
P6179Dimensions Publication ID1112768812
P356DOI10.1186/S40246-019-0198-2
P932PMC publication ID6419401
P698PubMed publication ID30871627

P50authorHailiang LiuQ35939046
P2093author name stringLi Wang
Ying Yang
Peng Zhou
Hua Hu
Jiayan Wu
Jingli Fu
Weiyi Cai
Jiuchen Sun
P2860cites workIncidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western SwedenQ24675242
Clinical diagnosis of the Usher syndromes. Usher Syndrome ConsortiumQ28252128
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesQ28261842
Copy-number variation and false positive prenatal aneuploidy screening resultsQ30643919
Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development--a retrospective analysis of 11-year dataQ30738434
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingQ33665399
Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal TestingQ33686861
Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samplesQ34301776
Robertsonian translocations--reproductive risks and indications for preimplantation genetic diagnosisQ34518990
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplicationsQ36269719
Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNAQ36332125
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal AbnormalitiesQ36473401
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the futureQ36957670
Leigh and Leigh-like syndrome in children and adultsQ37274737
WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme.Q37631891
Chromosome 10q26 deletion syndrome: Two new cases and a review of the literatureQ37707735
Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities.Q39431976
Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology.Q40458595
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.Q41566460
Microdeletion 3q syndrome.Q41934698
A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis.Q43463097
Clinical Experience of Non-Invasive Prenatal Chromosomal Aneuploidy Testing in 190,277 Patient Samples.Q45974391
Cell-free DNA analysis for noninvasive examination of trisomyQ46784231
Congenital respiratory tract disorders in 22q11.2 deletion syndromeQ47668198
Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?Q48095131
Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA.Q48285694
11q23 deletion syndrome (Jacobsen syndrome) with severe bleeding: a case reportQ48523056
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2.Q50483633
New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities.Q51741188
Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms.Q51848454
Cutis laxa in a patient with 1p36 deletion syndrome.Q52610942
22q11.2 deletion syndrome in diverse populations.Q52780478
DiGeorge syndrome : Relevance of psychiatric symptoms in undiagnosed adult patients.Q54989188
Presence of fetal DNA in maternal plasma and serumQ57075132
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!Q73840764
Microdeletion and microduplication syndromesQ83587486
Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks' gestation and the combined test at 11-13 weeksQ85632797
Accurate description of DNA-based noninvasive prenatal screeningQ87033149
Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancyQ87418439
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)14
P577publication date2019-03-12
P1433published inHuman genomicsQ26842690
P1476titleNoninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies
P478volume13

Reverse relations

cites work (P2860)
Q98291733A Novel Graphic-Aided Algorithm (gNIPT) Improves the Accuracy of Noninvasive Prenatal Testing
Q92340995A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
Q99584006The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results

Search more.