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Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT.

Genes - 31 Jan 2026

Iordanescu Irina Ioana, Catana Andreea, Barabas Cuzmici Zina, Chelu Paula, Basangiu Bianca Florentina, Severin Emilia, Militaru Mariela Sanda

Abstract excerpt

Objectives: This study aimed to characterize the types and frequencies of sex chromosome aneuploidies (SCAs) detected through invasive prenatal testing, evaluate the concordance between non-invasive prenatal testing (NIPT) and confirmatory diagnostic methods, and assess the challenges faced during genetic counseling following SCA diagnosis. Study Design: A retrospective review was conducted on 842 prenatal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41751555
DOI: 10.3390/genes17020171
PMCID: PMC12940296

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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