P734: Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA

In 2016, ACOG and SMFM issued joint guidelines recommending chromosomal microarray (CMA) as a first-tier genetic test for prenatal cases undergoing invasive procedures with major structural abnormalities identified by fetal ultrasound and instances of fetal death or stillbirth. Since then, the UCLA cytogenetics laboratory has routinely performed prenatal testing on chorionic villus sampling (CVS), amniotic fluid (AF), and products of conception (POC) specimens, with an annual volume of approximately 400 tests per annum.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103103
Primary Topic
Congenital Heart Disease Studies
Type
article
Field-Weighted Citation Impact
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article

P734: Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA

Sung‐Hae Kang, Fumin Lin, T. Niroshi Senaratne, Wenjuan Zhang et al.
Genetics in Medicine Open
Congenital Heart Disease Studies
article

P734: Implementing a prenatal-specific reference markedly improves call quality and reduces repeat testing for clinical CMA

Sung‐Hae Kang, Fumin Lin, T. Niroshi Senaratne, Wenjuan Zhang, Alden Huang
article en

Abstract

In 2016, ACOG and SMFM issued joint guidelines recommending chromosomal microarray (CMA) as a first-tier genetic test for prenatal cases undergoing invasive procedures with major structural abnormalities identified by fetal ultrasound and instances of fetal death or stillbirth. Since then, the UCLA cytogenetics laboratory has routinely performed prenatal testing on chorionic villus sampling (CVS), amniotic fluid (AF), and products of conception (POC) specimens, with an annual volume of approximately 400 tests per annum.

Genetics in Medicine OpenVol. 3
University of California, Los Angeles (US)
Openalex Percentile: Top 93%
Congenital Heart Disease Studies
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