Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities

Liubing Lan; Dandan Luo; Jianwen Lian; Lingna She; Bosen Zhang; Hua Zhong; Huaxian Wang; Heming Wu

doi:10.2147/IJGM.S483290

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities

Int J Gen Med. 2024 Oct 14:17:4645-4658. doi: 10.2147/IJGM.S483290. eCollection 2024.

Authors

Liubing Lan^{1

2}, Dandan Luo^{1

2}, Jianwen Lian¹, Lingna She^{1

3}, Bosen Zhang^{1

3}, Hua Zhong¹, Huaxian Wang¹, Heming Wu¹

Affiliations

¹ Department of Prenatal Diagnostic Center, Meizhou People's Hospital, Meizhou, People's Republic of China.
² Department of Obstetrics, Meizhou People's Hospital, Meizhou, People's Republic of China.
³ Department of Ultrasound, Meizhou People's Hospital, Meizhou, People's Republic of China.

Abstract

Objective: Chromosomal microarray analysis (CMA) is a first-line test to assess the genetic etiology of fetal ultrasound abnormalities. The aim of this study was to evaluate the effectiveness of CMA in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities, including structural abnormalities and non-structural abnormalities.

Methods: A retrospective study was conducted on 368 fetuses with abnormal ultrasound who received interventional prenatal diagnosis at Meizhou People's Hospital from October 2022 to December 2023. Samples of villi, amniotic fluid, and umbilical cord blood were collected according to different gestational weeks, and karyotype and CMA analyses were performed. The detection rate of chromosomal abnormalities in different ultrasonic abnormalities was analyzed.

Results: There were 368 fetuses with abnormal ultrasound, including 114 (31.0%) with structural abnormalities, 225 (61.1%) with non-structural abnormalities, and 29 (7.9%) with structural combined with non-structural abnormalities. The detection rate of aneuploidy and pathogenic (P)/likely pathogenic (LP) copy number variations (CNVs) of CMA in fetuses with structural abnormalities was 5.26% (6/114), the detection rate of karyotype was 2.63% (3/114), and the additional diagnosis rate of CMA was 2.63%. In the fetuses with ultrasonic non-structural abnormalities, the detection rate of karyotype was 6.22% (14/225), the detection rate of aneuploidy and P/LP CNVs in fetuses with ultrasonic structural abnormalities was 9.33% (21/225), and the additional diagnosis rate of CMA was 3.11%. There was no significant difference in chromosome abnormality detection rate of CMA among structural abnormality, non-structural abnormality, and structural abnormality combined with non-structural abnormality groups (5.3%, 9.3%, and 13.8%, p = 0.241), also among multiple ultrasonic abnormality and single ultrasonic abnormality groups (14.8%, and 7.3%, p = 0.105).

Conclusion: CMA can significantly improve the detection rate of genetic abnormalities in prenatal diagnosis of ultrasonic abnormal fetuses compared with karyotype analysis. CMA is a more effective tool than karyotyping alone in detecting chromosomal abnormalities in fetuses with ultrasound abnormalities.

Keywords: abnormal ultrasound fetus; chromosomal microarray analysis; copy number variation; prenatal diagnosis.

Grants and funding

This study was supported by and the Scientific Research Cultivation Project of Meizhou People’s Hospital (Grant No.: PY-C2024018), and the Science and Technology Program for Social Development of Meizhou (Grant No.: 2023B37, and 2023B38).