| SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel. |
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Sohee Cho, Ji Hyun Lee, Chong Jai Kim, Moon Young Kim, Kun Woo Kim, Doyeong Hwang, Soong Deok Lee |
1Institute of Forensic Science, Seoul National University College of Medicine, Seoul, Korea. sdlee@snu.ac.kr
2Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.
3Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
4Hamchoon Women's Clinic, Seoul, Korea. |
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| Abstract |
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Fetal DNA (fDNA) detection in maternal serum is a challenge due to low copy number and the smaller size of fDNA fragments compared to DNA fragments derived from the mother. Massively parallel sequencing (MPS) is a useful technique for fetal genetic analysis that is able to detect and quantify small amounts of DNA. In this study, seven clinical samples of maternal serum potentially containing fDNA were analyzed with a commercial single nucleotide polymorphism (SNP) panel, the HID-Ion AmpliSeq™ Identity Panel, and the results were compared to those from previous studies. Reference profiles for mothers and fetuses were not available, but multiple Y chromosomal SNPs were detected in two samples, indicating that fDNA was present in the serum and thereby validating observations of autosomal SNPs. This suggests that SNP-based MPS can be valuable for fDNA detection, thereby offering an insight into fetal genetic status. This technology could also be used to detect small amounts of DNA in mixed DNA samples for forensic applications. |
| Key Words:
Fetal DNA, Serum, Single nucleotide polymorphism, High-throughput nucleotide sequencing |
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