Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction

作者：Zhu, Hui; Lin, Shaobin; Huang, Linhuan; He, Zhiming; Huang, Xuan; Zhou, Yi; Fang, Qun; Luo, Yanmin^*

来源：Prenatal Diagnosis, 2016, 36(7): 686-692.

DOI：10.1002/pd.4844

• COPY NUMBER VARIANTS
• COCKAYNE-SYNDROME
• ULTRASOUND
• ANOMALIES
• RETARDATION
• PREGNANCIES
• HEAD

ObjectiveTo investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of chromosomal abnormalities in fetal growth restriction (FGR) cases. @@@ MethodThe ultrasound findings of 107 FGR cases subjected to invasive prenatal diagnostic testing from March 2013 to October 2015 were retrospectively reviewed. Karyotyping was performed in all cases, and CMA was performed in 80 cases. @@@ ResultsIn our study, karyotype analysis identified chromosomal aberrations in 9.3% (10/107) of the cases, while CMA detected abnormalities in 18.8% (15/80) of the cases. CMA achieved a 11.4% detection rate of chromosomal abnormalities among FGR cases with a normal karyotype. Among 53 FGR cases without malformations, CMA increased (9.4%; 95%CI, 1.6%-17.3%) the detection rate of chromosomal abnormalities. CMA identified more chromosomal abnormalities (50.0%; 95%CI, 19.0%-81.0%) than karyotyping (30.0%; 95%CI, 7.0%-65.0%) among the cases diagnosed during the second trimester. Further, the detection rate in cases with asymmetric FGR was higher with CMA (33.3%; 95%CI, 10.0%-65.0%) than with karyotyping (16.7 %; 95%CI, 2.0%-48.0%). @@@ ConclusionOur study highlights the added value of CMA compared with karyotyping in evaluation of asymmetric FGR cases diagnosed during the second trimester without sonographic anomalies.

• 出版日期2016-7
• 单位中山大学