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Zhonghua Fu Chan Ke Za Zhi. 2016 Jul 25;51(7):484-90. doi: 10.3760/cma.j.issn.0529-567X.2016.07.002.

[Application of chromosomal microarray analysis for fetuses with talipes equinovarus].

[Article in Chinese]

Author information

1
Institute of Perinatology and Birth Health, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China.

Abstract

OBJECTIVE:

To investigate the application of fetuses with talipes equinovarus(TE)using chromosomal microarray analysis(CMA)technology.

METHODS:

From May 2012 to June 2015, 54 fetuses were found with TE and with or without other structural anomalies by prenatal ultrasound. Karyotyping was taking for them all, and the fetuses with normal karyotypes took another CMA test. The data were analyzed with CHAS software. Finally all the cases were followed up to know about their pregnancy outcomes.

RESULTS:

One of the 54 cases was detected with abnormal karyotype which was trisomy 18(2%, 1/54). CMA was undertaken to the remaining fetuses, they were divided into 2 groups, including isolated TE group(n= 38)and complex TE group(n=15). The detection rate of clinical significant copy number variations(CNV)by CMA was 11%(6/53), while isolated and complex TE group were 5%(2/38)and 4/15, respectively(P= 0.047). Of the 53 cases, 51 cases were successfully followed up. Eleven cases were found without TE after birth, and the false positive rate(FPR)of TE was 22%(11/51).

CONCLUSIONS:

Whole-genome high-resolution CMA increased the detection rate by 11% in fetuses with TE. With the FPR and the detection rate of the clinical significant CNV of 2 groups, whole-genome CMA could be recommended to the fetuses with complex TE group but normal karyotypes. A series of ultrasonic tests should be suggested to the isolate TE group, while with the abnormal ultrasound, fetuses would be suggested to have CMA test for decreasing the rates of invasive prenatal diagnosis and FPR.

[Indexed for MEDLINE]

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