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Peer-reviewedCC BY-NC-NDBMC medical genomics

Haplotype-based non-invasive prenatal testing of F8 complex rearrangement via targeted capture sequencing of maternal plasma.

  • Yuxin Zhang1,2,3
  • Jiangyang Xue1,2,3
  • Danyan Zhuang1,2,3
  • Xiaoli Pan1,2,3
  • Yiming Wu4
  • Jingmin Yang4
  • Changshui Chen2
  • Shanshan Wu3
  • Haibo Li5,6,7
7 affiliations
  1. 1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, 339 Liuting Street, Haishu District, Ningbo, Zhejiang, 315012, China.
  2. 2Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, 339 Liuting Street, Haishu District, Ningbo, Zhejiang, 315012, China.
  3. 3Ningbo Key Laboratory of Genomic Medicine and Birth Defects Prevention, The Affiliated Women and Children's Hospital of Ningbo University, 339 Liuting Street, Haishu District, Ningbo, Zhejiang, 315012, China.
  4. 4Shanghai WeHealth BioMedical Technology Co., Ltd., Shanghai, China.
  5. 5The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, 339 Liuting Street, Haishu District, Ningbo, Zhejiang, 315012, China. [email protected].
  6. 6Ningbo Key Laboratory for the Prevention and Treatment of Embryogenic Diseases, The Affiliated Women and Children's Hospital of Ningbo University, 339 Liuting Street, Haishu District, Ningbo, Zhejiang, 315012, China. [email protected].
  7. 7Ningbo Key Laboratory of Genomic Medicine and Birth Defects Prevention, The Affiliated Women and Children's Hospital of Ningbo University, 339 Liuting Street, Haishu District, Ningbo, Zhejiang, 315012, China. [email protected].
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Abstract

Background

Hemophilia A (HA) is an X-linked recessive bleeding disorder primarily caused by the intron 22 inversion (Inv22) in F8 gene, which accounts for approximately 45% of all cases. A minor proportion of HA results from complex structural rearrangements (CSRs) in F8 gene. However, the ability of non-invasive prenatal testing (NIPT) to detect F8-related CSRs has not been evaluated.Methods

In this study, we applied NIPT to evaluate the risk of HA in a male fetus, whose mother had a history of delivering a boy affected by severe HA. Optical genome mapping (OGM) had previously identified the complex structural rearrangement (CSR) in F8 gene as the definitive genetic etiology of the first child's severe HA, and was confirmed to be maternally inherited. High-throughput sequencing was performed on the trios (the first child and both parents). Parental haplotypes were deduced through haplotype linkage analysis based on single nucleotide polymorphisms (SNPs). Subsequently, cell-free DNA in maternal plasma was subjected to sequencing, and fetal haplotypes were successfully inferred using the Hidden Markov Model (HMM) with parental haplotype information.Results

NIPT identified a male fetus who had inherited the CSR in the F8 gene from his mother, suggesting a diagnosis of HA. The NIPT findings were subsequently verified by OGM analysis of chorionic villi.Conclusion

Our study demonstrates that haplotype-based NIPT is an effective approach for detecting CSRs in the F8 gene during prenatal screening.

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Cite

BibTeXRIS
BibTeX
@article{zhang2026haplotypebased,
  title = {{Haplotype-based non-invasive prenatal testing of F8 complex rearrangement via targeted capture sequencing of maternal plasma.}},
  author = {Yuxin Zhang and Jiangyang Xue and Danyan Zhuang and Xiaoli Pan and Yiming Wu and Jingmin Yang and Changshui Chen and Shanshan Wu and Haibo Li},
  journal = {BMC medical genomics},
  year = {2026},
  month = jul,
  doi = {10.1186/s12920-026-02442-2},
  url = {https://europepmc.org/article/MED/42958326},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Haplotype-based non-invasive prenatal testing of F8 complex rearrangement via targeted capture sequencing of maternal plasma.
AU  - Yuxin Zhang
AU  - Jiangyang Xue
AU  - Danyan Zhuang
AU  - Xiaoli Pan
AU  - Yiming Wu
AU  - Jingmin Yang
AU  - Changshui Chen
AU  - Shanshan Wu
AU  - Haibo Li
PY  - 2026
DA  - 2026/07/31
JO  - BMC medical genomics
DO  - 10.1186/s12920-026-02442-2
UR  - https://europepmc.org/article/MED/42958326
AB  - Background  Hemophilia A (HA) is an X-linked recessive bleeding disorder primarily caused by the intron 22 inversion (Inv22) in F8 gene, which accounts for approximately 45% of all cases. A minor proportion of HA results from complex structural rearrangements (CSRs) in F8 gene. However, the ability of non-invasive prenatal testing (NIPT) to detect F8-related CSRs has not been evaluated.Methods  In this study, we applied NIPT to evaluate the risk of HA in a male fetus, whose mother had a history of delivering a boy affected by severe HA. Optical genome mapping (OGM) had previously identified the complex structural rearrangement (CSR) in F8 gene as the definitive genetic etiology of the first child's severe HA, and was confirmed to be maternally inherited. High-throughput sequencing was performed on the trios (the first child and both parents). Parental haplotypes were deduced through haplotype linkage analysis based on single nucleotide polymorphisms (SNPs). Subsequently, cell-free DNA in maternal plasma was subjected to sequencing, and fetal haplotypes were successfully inferred using the Hidden Markov Model (HMM) with parental haplotype information.Results  NIPT identified a male fetus who had inherited the CSR in the F8 gene from his mother, suggesting a diagnosis of HA. The NIPT findings were subsequently verified by OGM analysis of chorionic villi.Conclusion  Our study demonstrates that haplotype-based NIPT is an effective approach for detecting CSRs in the F8 gene during prenatal screening.
SN  - 1755-8794
ER  -