Clinical validation of an abbreviated karyotype analysis protocol for fertility evaluation

IF 3.6 3区 医学 Q1 PATHOLOGY Pathology Pub Date : 2024-07-02 DOI:10.1016/j.pathol.2024.04.010
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Abstract

Conventional G-banded karyotype is an essential tool for detecting chromosomal variants in patients undergoing fertility evaluation. In Australia, 15 cells are traditionally analysed or counted, to enhance detection of mosaic chromosomal variants. However, this protocol is not backed by clinical evidence. This study aims to assess the test performance of an abbreviated 5-cell karyotype analysis protocol in adult patients undergoing fertility evaluation.

A retrospective review of 53,293 blood karyotype tests, performed between 2019 and 2023, was conducted on a patient cohort primarily referred by reproductive endocrinology specialists. There were 513 variants reported in this cohort. Low level mosaic variants, where the variant was observed in less than 40% of cells, were reported in 13 cases, or one in 4,100 patients. Due to reduced sensitivity for low level mosaic variants, a 5-cell protocol is estimated to have a test sensitivity of 97.3% and a negative predictive value of 99.97%. A decision-making flowchart is proposed and we show that additional chromosome analysis and/or counts would be triggered in fewer than one in 10 cases using a 5-cell protocol, whilst remaining appropriate for detecting clinically significant mosaicism.

A 5-cell karyotype analysis protocol therefore maintains analytical and clinical validity in adult patients undergoing fertility-related blood karyotyping. Future research is recommended to validate these findings across laboratories and to explore their application to other clinical contexts.

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用于生育力评估的简略核型分析方案的临床验证
传统的 G 带核型是检测生育评估患者染色体变异的重要工具。在澳大利亚,传统上会对 15 个细胞进行分析或计数,以加强对镶嵌染色体变异的检测。然而,这种方法并没有临床证据支持。本研究旨在评估在接受生育力评估的成年患者中使用简略的 5 个细胞核型分析方案的测试性能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Pathology
Pathology 医学-病理学
CiteScore
6.50
自引率
2.20%
发文量
459
审稿时长
54 days
期刊介绍: Published by Elsevier from 2016 Pathology is the official journal of the Royal College of Pathologists of Australasia (RCPA). It is committed to publishing peer-reviewed, original articles related to the science of pathology in its broadest sense, including anatomical pathology, chemical pathology and biochemistry, cytopathology, experimental pathology, forensic pathology and morbid anatomy, genetics, haematology, immunology and immunopathology, microbiology and molecular pathology.
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