In:
Prenatal Diagnosis, Wiley, Vol. 32, No. 4 ( 2012-04), p. 329-335
Abstract:
We previously reported on the validation of Prenatal BACs‐on‐Beads TM on retrospectively selected and prospective prenatal samples. This bead‐based multiplex assay detects chromosome 13, 18, 21 and X/Y aneuploidies and the nine most frequent microdeletion syndromes. We demonstrated that Prenatal BACs‐on‐Beads TM is a new‐generation, prenatal screening tool. Here, we describe the experience of five European prenatal diagnosis laboratories concerning the ongoing use of Prenatal BACs‐on‐Beads TM . Methods Some 1653 samples were analyzed. All results were confirmed by conventional karyotyping or another appropriate technique. All indications for invasive prenatal diagnosis were included. Amniotic fluid and chorionic villus samples were analyzed in equivalent proportions. Results The failure rate was 3.3% and the overall abnormality detection rate was ~1/10. Eighty‐five percent of the detected abnormalities were common aneuploidies. Eleven microdeletions and duplications were identified, thus giving an overall yield for microdeletion and microduplication detection of 1/145. Compared with QF‐PCR, Prenatal BACs‐on‐Beads TM provides an additional detection rate of ~1/250 for low‐risk pregnancies. The false positive and negative rates were both 〈 1%. Conclusion When associated with conventional karyotyping, the Prenatal BACs‐on‐Beads TM assay combines a short turnaround time (typical of rapid aneuploidy detection tests) with valuable detection of the most frequent microdeletion syndromes that cannot be detected in cytogenetic analyses. © 2012 John Wiley & Sons, Ltd.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2012
detail.hit.zdb_id:
1491217-X
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