Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

Rulin Dai,Haibo Zhu,Yang Yu,Xiaonan Hu,Qi Xi,Ruixue Wang,Ruizhi Liu

doi:10.1186/s13039-019-0457-x

Rulin Dai, Haibo Zhu + Show 5 more

Open Access

https://doi.org/10.1186/s13039-019-0457-x

Copy DOI

Abstract

BackgroundSeveral different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal prenatal indications and to determine the relationships between fetal chromosomal abnormalities and indicators of prenatal abnormalities in Northeast China.MethodsWe evaluated 4953 16- to 23-week singleton gestation cases using amniocentesis and a total of 3583 participants received serological screening. Fetal chromosomal analyses were performed for all samples using fluorescence in situ hybridization and karyotyping.ResultsAmong these samples, 204 (4.12%) had fetal chromosomal abnormalities. A total of 3583 participants received serological screening, among whom 102 (2.85%) exhibited positive results. A total of 309 participants had ultrasonography; 42 (13.6%) of these had abnormalities. Among 97 participants who had non-invasive prenatal testing (NIPT), 59 (61%) had positive results. Among 1265 participants with advanced maternal age, 78 (6.2%) had abnormal results.ConclusionThe serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates. Although they are both prenatal screening techniques, maternal serum screening cannot be replaced by NIPT. The pregnancy women should accept NIPT in a qualified prenatal diagnostic center. We recommend that pregnant women at high or critical risk undergoing prenatal screening should confirm the fetal karyotype through amniocentesis. Moreover, if women receive a positive result via NIPT, they should not have a pregnancy termination without undergoing further prenatal diagnosis.

Highlights

Several different technologies are used for prenatal genetic screening procedures and diagnostic technology, including ultrasonography, the double-marker test, the triple marker test, non-invasive prenatal testing (NIPT) [1]
We found that the rate of fetal chromosomal abnormalities was 4.12% through amniocentesis
The serological screening and NIPT that were included in the prenatal screening methods all had false positive and false negative rates

Summary

Introduction

Several different technologies are used for prenatal genetic screening procedures and diagnostic technology, including ultrasonography, the double-marker test, the triple marker test, non-invasive prenatal testing (NIPT) [1]. Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities [2]. Amniocentesis is a reliable and low-risk method of achieving suitable genetic material [3]. Fluorescence in situ hybridization (FISH) has been used for rapid prenatal diagnosis of the most common aneuploidies in pregnant woman at high risk. The main advantages of FISH technology are that it is rapid and reliable [5, 6]. Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies.

Objectives

Methods

Results

Discussion

Conclusion