Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

Sha Lu; Nisile Kakongoma; Wen-Sheng Hu; Yan-Zhen Zhang; Nan-Nan Yang; Wen Zhang; Ai-Fen Mao; Yi Liang; Zhi-Fen Zhang

doi:10.1186/s12884-023-05428-5

Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory

BMC Pregnancy Childbirth. 2023 Feb 8;23(1):102. doi: 10.1186/s12884-023-05428-5.

Authors

Sha Lu^{1

2}, Nisile Kakongoma¹, Wen-Sheng Hu^{1

2}, Yan-Zhen Zhang², Nan-Nan Yang², Wen Zhang², Ai-Fen Mao², Yi Liang³, Zhi-Fen Zhang^{4

5}

Affiliations

¹ Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China.
² Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China.
³ Department of Neurobiology and Acupuncture Research, The Third School of Clinical Medicine, Zhejiang Chinese Medical University, Key Laboratory of Acupuncture and Neurology of Zhejiang Province, 548 Binwen Road, Binjiang District, Hangzhou, 310053, Zhejiang, People's Republic of China. liangyiwww@126.com.
⁴ Zhejiang Chinese Medical University, Hangzhou, Zhejiang, People's Republic of China. zhangzf@zju.edu.cn.
⁵ Prenatal Screening and Prenatal Diagnosis Center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), No. 369 Kunpeng Rd., Hangzhou, Zhejiang, 310008, People's Republic of China. zhangzf@zju.edu.cn.

Abstract

Background: A growing number of cytogenetic techniques have been used for prenatal diagnosis. This study aimed to demonstrate the usefulness of karyotyping, BACs-on-Beads (BoBs) assay and single nucleotide polymorphism (SNP) array in prenatal diagnosis during the second trimester based on our laboratory experience.

Methods: A total of 10,580 pregnant women with a variety of indications for amniocentesis were enrolled in this retrospective study between January 2015 and December 2020, of whom amniotic fluid samples were analysed in 10,320 women. The main technical indicators of participants in the three different technologies were summarized, and cases of chromosome abnormalities were further evaluated.

Results: The overall abnormality detection rate of karyotyping among all the amniotic fluid samples was 15.4%, and trisomy 21 was the most common abnormality (20.9%). The total abnormality detection rate of the BoBs assay was 5.6%, and the diagnosis rate of microdeletion/microduplication syndromes that were not identified by karyotyping was 0.2%. The detection results of the BoBs assay were 100.0% concordant with karyotyping analysis in common aneuploidies. Seventy (87.5%) cases of structural abnormalities were missed by BoBs assay. The total abnormality detection rate of the SNP array was 21.6%. The detection results of common aneuploidies were exactly the same between SNP array and karyotyping. Overall, 60.1% of structural abnormalities were missed by SNP array. The further detection rate of pathogenic significant copy number variations (CNVs) by SNP was 1.4%.

Conclusions: Karyotyping analysis combined with BoBs assay or SNP array for prenatal diagnosis could provide quick and accurate results. Combined use of the technologies, especially with SNP array, improved the diagnostic yield and interpretation of the results, which contributes to genetic counselling. BoBs assay or SNP array could be a useful supplement to karyotyping.

Keywords: Amniotic fluid sample; BoBs assay; Karyotyping; Prenatal diagnosis; SNP array.

MeSH terms

Amniotic Fluid
Aneuploidy
Chromosome Disorders* / diagnosis
DNA Copy Number Variations
Female
Humans
Pregnancy
Prenatal Diagnosis / methods
Retrospective Studies

Abstract

MeSH terms

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