Related Experiment Video
Updated: Aug 2, 2025
Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to
Kritsada Singha1,2, Supawadee Yamsri1, Attawut Chaibunruang1
1Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Muang, Khon Kaen, Thailand.
Insights
Unnecessary prenatal diagnosis for hemoglobinopathies occurred in 13.1% of cases, highlighting a need for improved risk assessment. This practice poses risks and incurs costs, emphasizing the importance of accurate genetic screening for pregnant women.
Area of Science:
- Medical Genetics
- Obstetrics and Gynecology
- Public Health
Background:
- Hemoglobinopathies, such as thalassemia, are significant genetic disorders requiring accurate diagnosis.
- Prenatal diagnosis plays a crucial role in managing genetic risks during pregnancy.
- Assessing the necessity of prenatal diagnostic procedures is vital for optimizing healthcare resources and minimizing patient risks.
Purpose of the Study:
- To determine the frequency of unnecessary prenatal diagnostic tests for hemoglobinopathies.
- To investigate the reasons behind these unnecessary tests over a 12-year period.
- To evaluate the implications of unnecessary prenatal diagnoses in a Thai university center.
Main Methods:
- A retrospective cohort analysis of prenatal diagnoses performed between 2009 and 2021.
- Analysis of 4,946 fetal specimens using PCR-based methods for mutation identification.
- Monitoring of maternal contamination using the D1S80 VNTR locus.
Main Results:
- A total of 645 (13.1%) of the 4,934 analyzed fetuses were identified as having unnecessary prenatal diagnostic requests.
- The majority of at-risk fetuses were screened for severe thalassemia diseases (78.6%).
- Inadequate parental data contributed to 8.3% of cases requiring assessment.
Conclusions:
- The study found a high frequency of unnecessary prenatal diagnoses for hemoglobinopathies.
- Unnecessary testing increases risks of procedural complications, psychological distress, and healthcare costs.
- There is a clear need to refine referral criteria and improve risk assessment for prenatal hemoglobinopathy testing.
Objective:
To determine the frequency and etiology of unnecessary prenatal diagnosis for hemoglobinopathies during 12 years of services at a single university center in Thailand.
Methods:
We conducted a retrospective cohort analysis of prenatal diagnosis during 2009-2021. A total of 4,932 couples at risk and 4,946 fetal specimens, including fetal blood (5.6%), amniotic fluid (92.3%), and chorionic villus samples (2.2%) were analyzed. Identification of mutations causing hemoglobinopathies was carried out by PCR-based methods. Maternal contamination was monitored by analysis of the D1S80 VNTR locus.
Results:
Among 4,946 fetal specimens, 12 were excluded because of poor PCR amplification, maternal contamination, non-paternity, and inconsistency of the results of the fetuses and parents. Breakdown of 4,934 fetuses revealed 3,880 (78.6%) at risk for the three severe thalassemia diseases, including β-thalassemia major, Hb E-β-thalassemia, and homozygous α0-thalassemia, 58 (1.2%) at risk for other α-thalassemia diseases, 168 (3.4%) at risk for β+-thalassemia, 109 (2.2%) at risk for high Hb F determinants, 16 (0.3%) at risk for abnormal Hbs, and 294 (6.0%) with no risk of having severe hemoglobinopathies. The parents of 409 (8.3%) fetuses had inadequate data for fetal risk assessment. Overall, we encountered unnecessary prenatal diagnostic requests for 645 (13.1%) fetuses.
Conclusions:
The frequency of unnecessary prenatal diagnosis was high. This could lead to unnecessary risk of complications associated with fetal specimen collection, psychological impacts to the pregnant women and their families, as well as laboratory expenses and workload.
