Non-Invasive Prenatal Diagnosis of Alpha-Thalassemia Using Paternal SNPs
Author Information
Author(s): Yan Ti-Zhen, Mo Qiu-Hua, Cai Ren, Chen Xue, Zhang Cui-Mei, Liu Yan-Hui, Chen Ya-Jun, Zhou Wan-Jun, Xiong Fu, Xu Xiang-Min
Primary Institution: Southern Medical University, Guangzhou, Guangdong, People's Republic of China
Hypothesis
Can a non-invasive prenatal diagnosis (NIPD) test reliably exclude homozygous α0-thalassemia using paternal SNPs in maternal plasma?
Conclusion
The study established a reliable method for detecting paternal SNPs in maternal plasma, successfully excluding homozygosity for α0-thalassemia in nearly half of the pregnancies tested.
Supporting Evidence
- 97% of couples had one or more different SNPs within the deletion breakpoints.
- Homozygosity for the (−−SEA) deletion was accurately excluded in 33 out of 67 pregnancies.
- The method was completely concordant with traditional reference methods in most cases.
Takeaway
Doctors can now check if a baby has a serious blood condition called α-thalassemia without needing to do risky tests on the baby directly, just by looking at the mother's blood.
Methodology
The study used multiplex PCR-based mini-sequencing to identify informative SNPs and allele-specific real-time PCR to detect paternally inherited alleles in maternal plasma.
Potential Biases
Potential bias due to the small sample size and the specific population studied.
Limitations
Two cases were uncertain due to sample hemolysis, which could affect the results.
Participant Demographics
Pregnant women aged 20 to 41 years, with a mean age of 27 years.
Statistical Information
P-Value
p<0.05
Confidence Interval
95% CI, 25.4–78.6%
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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