Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Complete discrepancy between QF‐PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS

8 Feb 2007

Abstract excerpt

OBJECTIVE: To investigate complete discrepancies in the prenatal diagnosis of trisomy 21 between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in three chorion villus samples. METHODS: Clinical details were obtained from all three patients. Follow-up studies were undertaken where possible by evaluation of chromosome 21 copy number with QF-PCR, interphase FISH, MLPA and karyotyping, and by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17286305
DOI: 10.1002/pd.1675

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complete discrepancy between QF‐PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVSPMID 17286305Read ↗

Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicismSemantic proximity Read ↗

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesisSemantic proximity Read ↗

Cytogenetic results from the U.S. collaborative study on CVSSemantic proximity Read ↗

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal DiagnosisSemantic proximity Read ↗

Incidence of placental mosaicism leading to discrepant results between QF‐PCR and karyotyping in 22,825 chorionic villus samplesSemantic proximity Read ↗

(Potential) false-negative diagnoses in chorionic villi and a review of the literatureSemantic proximity Read ↗

Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)—diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986–1992Semantic proximity Read ↗

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21Semantic proximity Read ↗

Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studiesSemantic proximity Read ↗

Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. dataSemantic proximity Read ↗

Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping.Semantic proximity Read ↗

Prenatally detected trisomy 20 mosaicismSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.