| Title |
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
|
|---|---|
| Published in |
Human Genetics, October 2011
|
| DOI | 10.1007/s00439-011-1095-5 |
| Pubmed ID | |
| Authors |
Lluís Armengol, Julián Nevado, Clara Serra-Juhé, Alberto Plaja, Carmen Mediano, Fe Amalia García-Santiago, Manel García-Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luis Fernández, María Ángeles Mori, Lidia García-Pérez, Pablo Daniel Lapunzina, Luis Alberto Pérez-Jurado |
| 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 5 | 83% |
| Unknown | 1 | 17% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 50% |
| Scientists | 2 | 33% |
| Practitioners (doctors, other healthcare professionals) | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 97 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Colombia | 2 | 2% |
| Netherlands | 1 | 1% |
| Italy | 1 | 1% |
| United Kingdom | 1 | 1% |
| Singapore | 1 | 1% |
| Unknown | 91 | 94% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 20 | 21% |
| Other | 12 | 12% |
| Student > Master | 12 | 12% |
| Student > Bachelor | 12 | 12% |
| Student > Ph. D. Student | 9 | 9% |
| Other | 23 | 24% |
| Unknown | 9 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 35 | 36% |
| Agricultural and Biological Sciences | 20 | 21% |
| Biochemistry, Genetics and Molecular Biology | 19 | 20% |
| Mathematics | 2 | 2% |
| Nursing and Health Professions | 1 | 1% |
| Other | 8 | 8% |
| Unknown | 12 | 12% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 19 May 2016.
All research outputs
#6,194,543
of 22,659,164 outputs
Outputs from Human Genetics
#786
of 2,948 outputs
Outputs of similar age
#37,088
of 133,865 outputs
Outputs of similar age from Human Genetics
#8
of 21 outputs
Altmetric has tracked 22,659,164 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 2,948 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has gotten more attention than average, scoring higher than 73% of its peers.
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