{Reference Type}: Evaluation Study
{Title}: Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China.
{Author}: Luo X;Zhu H;Wang L;Xiao B;Fan Y;Ye H;Ying X;Qiu W;Zhang H;Han L;Gu X;Yu Y;Wang L;
{Journal}: Taiwan J Obstet Gynecol
{Volume}: 60
{Issue}: 2
{Year}: Mar 2021
{Factor}: 1.944
{DOI}: 10.1016/j.tjog.2021.01.008
{Abstract}: <B>OBJECTIVE: </B>The present study aimed to determine the diagnostic value of prenatal chromosomal microarray analysis (CMA) for fetuses with several indications of being at high risk for various conditions.<BR><B>METHODS: </B>This retrospective analysis included 1256 pregnancies that were prenatally evaluated due to high-risk indications using invasive CMA. The indications for invasive prenatal diagnosis mainly included ultrasound anomalies, high-risk for maternal serum screening (MSS), high-risk for non-invasive prenatal tests (NIPT), family history of genetic disorders or birth defects, and advanced maternal age (AMA). The rate of clinically significant genomic imbalances between the different groups was compared.<BR><B>RESULTS: </B>The overall prenatal diagnostic yield was 98 (7.8%) of 1256 pregnancies. Clinically significant genomic aberrations were identified in 2 (1.5%) of 132 patients with non-structural ultrasound anomalies, 36 (12.7%) of 283 with structural ultrasound anomalies, 2 (4.5%) of 44 at high-risk for MSS, 38 (26.6%) of 143 at high-risk for NIPT, 11 (3.8%) of 288 with a family history, and 7 (2.1%) of 328 with AMA. Submicroscopic findings were identified in 29 fetuses, 19 of whom showed structural ultrasound anomalies.<BR><B>CONCLUSIONS: </B>The diagnostic yields of CMA for pregnancies with different indications greatly varied. CMA could serve as a first-tier test for structural anomalies, especially multiple anomalies, craniofacial dysplasia, urinary defects, and cardiac dysplasia. Our results have important implications for genetic counseling.