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Table · dataset · 2026

Table 1_A bespoke non-invasive approach to predict fetal genotype in pregnancy.docx

Listed in HKU DataHub and figshare and Loughborough Research Repository — shown once because both records carry DOI 10.3389/fmed.2026.1745404.s001

Introduction<p>The fetal genome influences fetal growth; however, it is currently not used to customize fetal growth charts due to the need for invasive testing.

Description

Total cell-free-DNA (T-cfDNA) from maternal blood during pregnancy contains maternal-cfDNA and fetal-cfDNA. T-cfDNA offers the opportunity to non-invasively determine fetal single nucleotide polymorphisms (SNPs).

This study aimed to determine the feasibility of genotyping fetal SNPs in pregnancy using parental genomic-DNA (gDNA) and maternal T-cfDNA, and computing fetal polygenic scores (PGS) as proxies for several health domains.</p>Methods<p>Parental and cord blood gDNA, and maternal T-cfDNA were collected. Genotyping was performed using Illumina Global Screening Array. Signal intensity parameters (SIPs) were extracted for genotyped SNPs.

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Fetal SNPs were predicted using corresponding paired parental SNPs when both parents were homozygous, and from maternal gDNA SIP confidence intervals otherwise. Six PGSs for phenotypes including birthweight-PGS were computed using predicted fetal SNPs. Predictions were verified against genotyped cord blood.</p>Results<p>The average fetal SNP prediction accuracy was 86.39% (95% CI: 85.94-86.84%).

Improved performance was observed when computing PGSs with a greater number of SNPs; coefficient of variation ranged from 5.6-16.5%.</p>Discussion<p>Results suggested moderate predictive performance. Improvements in the accuracy of SNP prediction are needed before clinical implementation. This may be through advanced bioinformatics methods or genotyping methodology.</p>

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Tabular 65%
Provenance · 3 source records, 35 field assertions
SourceKeyLast seenRaw
HKU DataHuboai:figshare.com:article/3400966510 d agoJSON v1
figshareoai:figshare.com:article/340096659 d agoJSON v1
Loughborough Research Repositoryoai:figshare.com:article/340096659 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · datahub hku hkconnector:datahub_hku_hk@1.0.0
concepts[field].anzsrc:field:321501mapping · repository lboro ac ukvocabulary-mapper@1.0.0keywords['Foetal Development and Medicine']
concepts[field].anzsrc:field:321501mapping · figshare comvocabulary-mapper@1.0.0keywords['Foetal Development and Medicine']
concepts[field].anzsrc:field:321501mapping · datahub hku hkvocabulary-mapper@1.0.0keywords['Foetal Development and Medicine']
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