Last revised: January 14, 2025
A detailed explanation of the sample prenatal DNA test result report. We introduce seeDNA's highly precise testing process and how to read the report, covering the full 3-page structure, the guarantee of a paternity probability of 99.99% or higher, and the mother-child relationship confirmation check.
- ・Sample result report uploaded to My Page
- ・Overall structure of the report
- └ [Page 1] Test overview and result summary
- └ [Page 2] Photographic record of the samples
- └ [Page 3] Theoretical background and analysis results
- ・Page 3: The test result analysis section
- ・Paternity probability and its accuracy
- ・Mother-child relationship confirmation check
- ・The process for producing a prenatal DNA test result report
- ・The reliability of our prenatal DNA testing
Sample result report uploaded to My Page
For anyone considering a prenatal DNA test, one of the biggest concerns is likely "what form will the test results actually take?" By understanding the content and items listed in the result report ahead of time, you can smoothly grasp the content when you actually receive the results and review them with peace of mind.
At seeDNA, we provide the prenatal DNA test result report as a PDF uploaded to My Page. With this method, customers can log in to My Page at any time to view and download the report. Unlike postal delivery, this approach carries a lower risk of loss and less concern about the report being seen by a third party, making it an excellent method from a privacy protection standpoint as well.
In this article, we explain the sample report page by page in detail, describing what information appears on each page and our unique quality assurance system. Prenatal DNA testing is a non-invasive method that uses fetal-derived cell-free DNA (cfDNA) contained in blood drawn from the mother during pregnancy [ref:1][ref:2]. Unlike amniocentesis or chorionic villus sampling, it does not require inserting a needle into the uterus, which is a major advantage in terms of extremely low physical risk to both mother and fetus.
Overall structure of the report
Our prenatal DNA test result report consists of a total of 3 pages. Each page has a clearly defined role, with information organized in stages from a test overview through to detailed analysis results. Although the report includes technical content, it is structured to be easy for the general public to understand as well.
The cfDNA used in prenatal DNA testing refers to short fragments of DNA circulating freely in the mother's blood. During pregnancy, fetal-derived DNA fragments are released into the mother's bloodstream via the placenta, so fetal DNA information can be obtained simply by drawing blood from the mother's arm [ref:1][ref:2]. By using this technology and comparing it against the DNA of the candidate father, it becomes possible to determine the parent-child relationship with high accuracy at the prenatal stage.
[Page 1] Test overview and result summary
Page 1 provides a summary of the test applicant, the individuals tested, and the test content (including results). Specifically, the following information is recorded.
- Information on the test applicant
- Information on the individuals tested (mother, candidate father, fetus)
- Overview of the test type and testing methodology
- Summary of the test result (confirmation or exclusion of the parent-child relationship)
- The paternity probability figure
*In a private test, the names of the individuals tested are not recorded. Private testing is conducted for personal confirmation purposes and carries no legal effect, so the report is anonymous from a privacy protection standpoint. A legal test, on the other hand, is intended for submission to a court or similar body, so the names of the individuals tested are clearly stated. Legal testing requires stricter procedures, such as identity verification and sample collection witnessed by a third party [ref:5].
[Page 2] Photographic record of the samples
Page 2 attaches photographs of the samples actually returned to us. Attaching these sample photographs plays a very important role in ensuring the transparency of the testing process. It allows customers to visually confirm that the sample they sent has reliably arrived at our laboratory and has been properly managed.
By recording the condition of the sample (the amount of blood sample, the type of container, the labeling status, etc.), traceability is ensured in the unlikely event that a problem arises. Sample management is extremely important in DNA testing, and a strict management system is required to prevent sample mix-ups or contamination. In addition to photographic records taken upon sample arrival, we have introduced systems such as barcode management to thoroughly centralize sample control [ref:3].
[Page 3] Theoretical background and analysis results
Page 3 records the theoretical background of the testing, the test content, and the analysis of the test results. This page is the most technical and important part of the report. It provides a detailed explanation of the scientific principles on which the DNA test is based, which specific genetic loci were analyzed, and how the paternity relationship was determined from those results.
Thanks to recent advances in next-generation sequencing (NGS) technology, it has become possible to simultaneously analyze thousands to hundreds of thousands of SNP (single nucleotide polymorphism) markers, even from the tiny amount of fetal-derived cfDNA present in the mother's blood [ref:6]. This has made possible highly accurate prenatal paternity testing that would have been difficult to achieve using conventional STR (Short Tandem Repeat) analysis alone.
Page 3: The test result analysis section
In particular, this [Test Result Analysis] section presents the test result in an easy-to-understand way, and records the paternity probability calculated based on the actual test results from our own in-house laboratory. In this analysis section, the results for each genetic locus used in the analysis are shown in a list, allowing you to confirm the degree to which the candidate father's alleles match the fetal DNA.
Paternity probability and its accuracy
The Probability of Paternity is a figure that statistically calculates, based on the DNA data obtained from testing, the probability that the candidate father is the biological father. This figure is calculated based on Bayes' theorem and is derived from the degree of allele matching across multiple genetic loci [ref:4]. Specifically, a "Paternity Index (PI)" is calculated for each genetic locus, and the probability is derived from the "Combined Paternity Index (CPI)," obtained by multiplying together the PI values for all loci [ref:7].
For a confirmed (positive) result, we guarantee a paternity probability of 99.99% or higher for our prenatal DNA testing. Depending on the test, the figure may include a considerable string of 9s, such as 99.9999..., but the upper limit we record in the report is 99.9999999.*1
This high degree of accuracy stems from the number of genetic loci we analyze and the wide variety of SNP markers we use. A typical DNA test analyzes around 15 to 20 genetic loci, but prenatal DNA testing achieves high accuracy by using an even greater number of markers. Internationally, a paternity probability of 99.99% or higher is generally regarded as "practically proven."
Note that in the case of an exclusion result, the figure is 0%. A negative (exclusion) result in DNA testing means that the DNA of the candidate father and the fetus does not match at multiple genetic loci, and in this case it is termed "Exclusion," meaning the paternity relationship is scientifically ruled out. Typically, a mismatch confirmed at three or more genetic loci results in a determination of exclusion.
Mother-child relationship confirmation check
As one method of eliminating the possibility of sample mix-ups, we confirm the biological relationship between the mother and fetus's DNA for every prenatal DNA test we perform.
We are currently the only company that performs this kind of check and states it clearly in the report.
This mother-child relationship confirmation is an important quality control process that dramatically increases the reliability of prenatal DNA testing. Because prenatal DNA testing analyzes cfDNA in the mother's blood, it is essential to confirm that the fetal DNA contained within it truly belongs to the child of the mother who submitted the sample. If a sample mix-up were to occur, it could lead to a completely different result being derived, but this mother-child check reliably eliminates that risk.
The mother-child relationship confirmation is carried out using the genetic principle (Mendel's law) that one of the two alleles a fetus carries must always come from the mother. By confirming that one of the fetus's alleles matches the mother's allele at every genetic locus analyzed, the validity of the sample is proven.
The process for producing a prenatal DNA test result report
The general flow until you receive the report is as follows.
- Application and delivery of the sample collection kit
- Collection and return of the mother's blood sample and the candidate father's sample (such as an oral swab)
- Receipt of samples, photographic recording, and barcode management at our in-house laboratory
- DNA extraction, SNP marker analysis, and statistical analysis
- Performance of the mother-child relationship confirmation check
- Preparation of the result report and upload to My Page
Because every process is completed entirely within our own in-house laboratory, there is no risk of information leakage through outsourcing to an external institution, and privacy is strictly protected. We have also obtained ISO9001 international quality certification, and quality control throughout the testing process is carried out in line with international standards.
The reliability of our prenatal DNA testing
For the reasons above, our prenatal DNA testing boasts a high degree of reliability. The factors that support this reliability can be summarized as follows.
- Highly accurate analysis guaranteeing a paternity probability of 99.99% or higher
- Mother-child relationship confirmation check performed on every test (unique in the industry)
- Traceability ensured through photographic records of samples
- Privacy protection through a consistent in-house testing system
- A highly safe testing method using non-invasive maternal blood collection
- International-standard quality control through ISO9001 and Privacy Mark certification
Prenatal DNA testing is a highly accurate test based on scientific evidence, and it serves as an important tool to support our customers' important decisions. By understanding the content of the report in advance, you can grasp the results calmly and accurately when you receive them. Please feel free to request a prenatal DNA test with confidence. If you have any questions, please do not hesitate to contact our customer support team.
*1 This applies to reports dated July 16, 2020 or later.
Frequently Asked Questions
Q1. How will I receive the prenatal DNA test result report?
A. At our company, the prenatal DNA test result report is uploaded as a PDF to My Page. A notification of the upload will be sent to your registered email address, so please log in to My Page to check it. If you would prefer the report sent by post, please let us know separately.
Q2. What does a paternity probability of 99.99% or higher mean?
A. Paternity probability is a figure that statistically indicates the probability that the candidate father is the biological father. A figure of 99.99% or higher means that an error would occur less than once in 10,000 times, representing an extremely high level of precision that is scientifically judged to confirm "the paternity relationship." We set the upper limit stated in our reports at 99.9999999.
Q3. What is the mother-child relationship confirmation check?
A. The mother-child relationship confirmation check is a process that confirms the fetal DNA contained in the mother's blood truly belongs to the child of the mother who submitted the sample. This eliminates the risk of sample mix-ups and ensures the accuracy of the test result. We are currently the only company that performs this check on every prenatal DNA test and states it clearly in the report.
Q4. What is the difference between the reports for private testing and legal testing?
A. In a private testing report, the names of the individuals tested are not recorded. Because it is conducted for personal confirmation purposes, the report is anonymous from a privacy protection standpoint. A legal testing report, on the other hand, is intended for submission to a court or similar body, so the names of the individuals tested are clearly stated, and it is prepared as a document with legal effect.
Q5. If the result is negative (no paternity relationship), how is that recorded in the report?
A. If the paternity relationship is excluded, the paternity probability is reported as 0%. This means that the DNA of the candidate father and the fetus did not match at multiple genetic loci, a result referred to as "Exclusion." The report also includes the analysis data on which the negative determination was based.
Q6. How long does it take to receive the prenatal DNA test result report?
A. Once the sample arrives at our laboratory, we typically upload the result report to My Page within a few business days to about two weeks. This may vary somewhat depending on the condition of the sample and the progress of testing, so please contact our customer support team for details.
Q7. How many genetic loci (loci) are listed in the report?
A. Our prenatal DNA testing uses more SNP markers than a typical DNA test (which analyzes 15 to 20 genetic loci). This achieves the high accuracy of a paternity probability of 99.99% or higher. Details of the genetic loci analyzed are recorded in the test result analysis section on page 3 of the report.
Reliable Support from the seeDNA Genetic Medicine Research Institute
The seeDNA Genetic Medicine Research Institute is a trusted and reliable DNA testing and genetic testing institution holding the international quality certification ISO9001 and the Privacy Mark for privacy protection.
If you are troubled by questions of family or parent-child relationships, or by a partner's infidelity, our DNA testing experts are here to provide reassuring support, so please feel free to contact us.
[Free Consultation with Specialist Staff]
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please feel free to contact our toll-free number.
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(excluding public holidays)
Author
Dr. Tomikane Okinori, M.D., Ph.D.
Graduated from the master's/doctoral program in Biological Regulation and Molecular Information Medicine at the University of Tsukuba Graduate School
In 2017, developed Japan's first prenatal DNA test(Patent 7331325) using trace DNA analysis technology(Patent 7121440)