The History of Prenatal Parent-Child DNA Testing Using the Mother's Blood

Last updated: 2025.09.15

Overview

Prenatal DNA testing (non-invasive prenatal paternity testing: NIPPT) is a test that uses fetal-derived cell-free DNA (cfDNA) contained in a pregnant woman's blood to confirm the father-child relationship between the fetus and the man believed to be the father during pregnancy.
Unlike invasive procedures (amniocentesis or chorionic villus sampling), its distinguishing feature is that parent-child testing can be performed with only a blood draw from the mother, posing no risk to the fetus or the mother.
cfDNA can be detected from early in pregnancy, and its proportion increases as the pregnancy progresses. Technically, it shares a common foundation with NIPT (screening for numerical chromosomal abnormalities).

History of Prenatal DNA Testing

• 1997: It was reported that fetal DNA (cfDNA) is present in maternal plasma.
• 2008–2011: The effectiveness of NIPT using massively parallel sequencing (NGS) was established, accelerating clinical adoption.
• 2012: Clinical reports demonstrating non-invasive prenatal testing (NIPT) emerged.^※1
• 2016: The first domestic prenatal DNA test (paternity determination during pregnancy: NIPPT) appeared in Japan.^※2

How DNA Testing During Pregnancy Works, and Its Limitations

How It Works

Fetal-derived cfDNA contained in the mother's blood during pregnancy is extracted and compared with the DNA of the man believed to be the father, allowing the father of the fetus to be identified during pregnancy.

Limitations

• If the proportion of fetal DNA in the maternal blood (fetal fraction) is low, a determination may not be possible in some cases.
• Discrepancies can occur due to differences between the placenta and the fetus, such as confined placental mosaicism (CPM).
• Human factors such as sample mix-ups or contamination can occur, though rarely, requiring confirmatory testing and clinical consistency checks.^※1

Ethical and Social Perspectives

Ethical considerations are necessary when using this test, including informed consent, privacy, and its impact on family relationships (how the results are handled and disclosed).
Because the test can be performed secretly using items such as hair or cigarette butts without the man's knowledge, some critics argue it may encourage hasty decisions about abortion, while others say it provides important information that can help a woman who feels anxious about the parent-child relationship between the unborn baby and the presumed father continue her pregnancy.
Advances in DNA analysis technology, such as next-generation DNA sequencers, are increasing convenience while also raising new ethical questions.^※3

seeDNA's Reliable Support

seeDNA is a trusted specialist institution for DNA testing and genetic testing that holds the international quality standard ISO 9001 and the Privacy Mark (P Mark) for privacy protection.
If you are concerned about the parent-child relationship of your unborn baby, disease risk, or a partner's infidelity, our genetic testing experts are ready to support you with peace of mind, so please feel free to contact us.

[References]

※1: Japan Society of Obstetrics and Gynecology (JSOG), "Views on Prenatal Genetic Testing Using Maternal Blood"
※2: seeDNA, "Domestic Service for DNA Testing During Pregnancy"
※3: Nikkei, "Who Is the Father? Testing Before Birth"