Evidence map›Paper›PMID 41122504›Full record

ArticleHuman mutation2025

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.

Wenjing Zhou, Fulin Liu, Shaojun Li, Di Wu, Jiyun Yang

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PubMed Full text at PMC Publisher
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Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Wenjing ZhouSichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Fulin LiuSichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.ORCID 0000-0002-0072-0847
Shaojun LiCelula (China) Medical Technology Co., Ltd., Chengdu, China.
Di WuCelula (China) Medical Technology Co., Ltd., Chengdu, China.ORCID 0000-0003-0235-506X
Jiyun YangSichuan Provincial Key Laboratory for Human Disease Gene Study, Center of Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.ORCID 0000-0001-9670-1028

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Noninvasive prenatal testing (NIPT) has been widely used in various monogenic recessive disorders based on relative haplotype dosage (RHDO) analysis. We accepted a congenital adrenal hyperplasia (CAH) pedigree with highly similar parental pathogenic haplotypes. The initial monogenic NIPT attempt was unsuccessful due to a paucity of informative single-nucleotide polymorphisms (SNPs), prompting improvement of the current method. With a refined algorithm that deduces the fetal genotype based on dosage changes at SNPs located on a specific parental haplotype, while also effectively sidestepping allele bias introduced by hybrid capture, monogenic NIPT was successfully carried out in this family, yielding results consistent with invasive prenatal diagnosis. Theoretically, this algorithm can be employed in scenarios involving consanguineous marriages or when parents share a highly homologous haplotype, thereby broadening its applicability. Detailed methodology is described, and the advantages of our algorithm are discussed.

Indexed as

Adrenal Hyperplasia, CongenitalAlgorithmsHaplotypesNoninvasive Prenatal TestingPrenatal DiagnosisFemaleGenotypeHumansMalePedigreePolymorphism, Single NucleotidePregnancySteroid 21-HydroxylaseSteroid 21-Hydroxylasealgorithmic improvementbioinformaticscongenital adrenal hyperplasiagenetic diagnosisnoninvasive prenatal testingrelative haplotype dosage analysis

Identifiers

PMID41122504
PMCPMC12537226

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