Trial reportHuman genetics2012
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Trial report in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
- Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25).Experimental and therapeutic medicine · 2026Article
- Article
- Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China.Frontiers in genetics · 2024Article
- Clinical and radiographic characteristics of diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma: a single institution review.Journal of neuro-oncology · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Nanoparticle-Enhanced Surface Plasmon Resonance Imaging Enables the Ultrasensitive Detection of Non-Amplified Cell-Free Fetal DNA for Non-Invasive Prenatal Testing.Analytical chemistry · 2022Article
- Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.Medicina (Kaunas, Lithuania) · 2021Article
- Prenatal ultrasound findings in Koolen-de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome.Molecular genetics & genomic medicine · 2021Article
- Prenatal Diagnosis by Chromosome Microarray Analysis, An Indian Experience.Journal of obstetrics and gynaecology of India · 2021Article
- Variants of uncertain significance in prenatal microarrays: a retrospective cohort study.BJOG : an international journal of obstetrics and gynaecology · 2021Article
- Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.Journal of clinical laboratory analysis · 2020Article
- Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong.BMC pregnancy and childbirth · 2020Article
- Medical Genetics for Practicing Obstetrician.Journal of obstetrics and gynaecology of India · 2020Review
- Autism Spectrum Disorders: Prenatal Genetic Testing and Abortion Decision-Making among Taiwanese Mothers of Affected Children.International journal of environmental research and public health · 2020Article
- Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.Journal of genetic counseling · 2018Article
- Pregnant Genetic Counselors in an Era of Advanced Genomic Tests: What Do the Experts Test Prenatally?Journal of genetic counseling · 2018Article
- Prenatal diagnosis by chromosomal microarray analysis.Fertility and sterility · 2018Review
- Clinical utility of array comparative genomic hybridisation in prenatal setting.BMC medical genetics · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown. We have conducted a comparative study of currently available methodologies for detection of chromosomal abnormalities after invasive prenatal sampling.A multicentric collection of a 1-year series of fetal samples with indication for prenatal invasive sampling was simultaneously evaluated using three screening methodologies: (1) karyotype and quantitative fluorescent polymerase chain reaction (QF-PCR), (2) two panels of multiplex ligation-dependent probe amplification (MLPA), and (3) chromosomal microarray-based analysis (CMA) with a targeted BAC microarray. A total of 900 pregnant women provided informed consent to participate (94% acceptance rate). Technical performance was excellent for karyotype, QF-PCR, and CMA (~1% failure rate), but relatively poor for MLPA (10% failure). Mean turn-around time (TAT) was 7 days for CMA or MLPA, 25 for karyotype, and two for QF-PCR, with similar combined costs for the different approaches. A total of 57 clinically significant chromosomal aberrations were found (6.3%), with CMA yielding the highest detection rate (32% above other methods). The identification of variants of uncertain clinical significance by CMA (17, 1.9%) tripled that of karyotype and MLPA, but most alterations could be classified as likely benign after proving they all were inherited. High acceptability, significantly higher detection rate and lower TAT, could justify the higher cost of CMA and favor targeted CMA as the best method for detection of chromosomal abnormalities in at-risk pregnancies after invasive prenatal sampling.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.