Using Ductus Venous Blood Flow Waveform as a Clinical Biomarker for the Detection of Aneuploidies-A Meta Analysis

Yibing Ge ,Lili Xia ,Eugene Chao

doi:10.20900/mo.20170017

Abstract

Background: Ductus venosus (DV) Doppler has been suggested as a biomarker for the early screening of fetal aneuploidy. However, results from different studies are not always consistent. The aim of this study is to investigate the relationship between DV and fetal aneuploidy by systematically reviewing the published literature and performing a meta-analysis.Methods: DV-Aneuploidy relationship data were extracted from previous publications, including 35,122 pregnant women. Among these, 613 fetuses had aneuploidy, 1522 had abnormal DV, and 382 had both abnormal DV and aneuploidy. Literature search was performed using PubMed Central, Medline, RePORTER and Elsevier Full-text Articles.Results: Results from random-effects model showed that DV and aneuploidy are strongly correlated (Log odds ratio: 3.86 0.35, p-value 0.27).Conclusion: This study shows that abnormal DV is significantly associated with the incidence of aneuploidies, supporting the use of DV as a clinical maker for fetal aneuploidy screening. Further study will explore the influence factors for DV-Aneuploidy relationship that lead to variations among different sample groups.

Highlights

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, e.g., a human cell with 45 or 47 chromosomes instead of the normal number 46 [1]
The p-value for the regression coefficient of the constant term of 0.499 indicates that, for two given studies, the probability is about 50 % for them to present significantly different mean log odds ratio (LOR). These results suggest that influential factors exist for the Ductus venosus (DV)-aneuploidy relations, leading to significant variances between different sample groups
1) DV is suitable for the aneuploidy screen for pregnant women of all ages; 2) The DVaneuploidy relation has been consistent during the past 19 years for a given sample group; 3) The LOR for a given sample group is generally stable regardless of sample size. While these results suggest the robustness of the DV-aneuploidy relationship, this indicates that there are other influential factors that lead to the variance of the effect size of different studies, which are worthy of further study

Summary

Introduction

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, e.g., a human cell with 45 or 47 chromosomes instead of the normal number 46 [1]. An extra or missing chromosome is a common cause of genetic disorders, including some human birth defects [2]. Aneuploidy is a major cause of perinatal morbidity and mortality, highlighting the importance of early detection. The first trimester (11 to 13 week) scan is widely accepted as an important component of early screening for aneuploidy, structural defects and preeclampsia. Previous studies suggested that abnormal Doppler flow patterns of the DV are associated with an increased risk of fetal aneuploidy [3]. Extensive studies have demonstrated that abnormal flow in this vessel is associated with an increased risk for cardiac defects and other adverse pregnancy outcomes linked to chromosome abnormalities . Ductus venosus (DV) Doppler has been suggested as a biomarker for the early screening of fetal aneuploidy. The aim of this study is to investigate the relationship between DV and fetal aneuploidy by systematically reviewing the published literature and performing a meta-analysis

Objectives

Methods

Discussion

Conclusion