Genetic profiling enhances cystic fibrosis prenatal diagnosis.

doi:10.1038/s41598-026-39400-y

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Genetic profiling enhances cystic fibrosis prenatal diagnosis.

Scientific reports - 13 Jun 2026

Hosseini Nami Amin, Kabiri Mahboubeh, Zafarghandi Motlagh Fatemeh, Zeinali Razie, Karimi Ali, Aslani Saba, Zeinali Sirous

Abstract excerpt

Prenatal testing is a standard approach for detecting genetic diseases in expectant mothers, with more testing options becoming available. Homozygosity mapping is invaluable for identifying genes causing disease and improving molecular diagnostics. Here, we present the prenatal diagnosis outcomes of three families affected by cystic fibrosis (CF). A combination of phenotypic analysis, haplotype analysis, and CFTR...

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Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Profile
Genetic Testing
Haplotypes
Pedigree

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Pregnancy

Prenatal Diagnosis

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PMID: 42288560
DOI: 10.1038/s41598-026-39400-y
PMCID: PMC13522470

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.