FDA批准发育迟缓和智障的辅助检测方法

1月17日，美国食品药品管理局(FDA)宣布，已批准一种有助于检测儿童发育迟缓或智障遗传因素的产后诊断方法，不过该方法不应单独应用。

FDA 声明指出，利用血液样本，CytoScanDx Assay可对全基因组进行分析，识别与智力和发育障碍(如迪乔治综合征)相关基因组区段的染色体变异。声明强调，该方法不应单独作为诊断检测方法或用于胚胎植入前或产前检测或筛查，人群筛查以及产后获得性或遗传型畸变(如癌症)的检测或筛查。

此外，检测结果应只能与其他临床和诊断结果配合使用，并符合专业实践标准，包括酌情通过其他方法、父母样本评估、临床遗传学评价以及咨询等加以确认。检测结果也只能由获得资格认证的临床细胞遗传学或分子遗传学专业人士解读。

通过比较近1,000份血液样本结果对该检测方法进行了评价。结果发现，该方法在检测某些染色体异常方面优于染色体核型分析和荧光原位杂交(FISH) 染色体检测方法。

FDA器械与放射健康中心(CDRH)体外诊断与放射健康办公室主任Alberto Gutierrez博士在声明中指出：“这一新方法或有助于识别儿童发育迟缓或智障的可能原因，从而使医护人员和父母能够通过适当的医疗和支持对儿童进行干预。”

该检验方法由Affymetrix公司开发生产。

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By: ELIZABETH MECHCATIE, Ob.Gyn. News Digital Network

The Food and Drug Administration authorized for marketing a postnatal diagnostic test that helps detect genetic causes of developmental delay or intellectual disabilities in children, but it is not intended to be used as a stand-alone test, the agency announced on Jan 17.

With a blood sample, the CytoScanDx Assay analyzes the entire genome and detects chromosomal variations in regions of the genome that are associated with intellectual and developmental disabilities, such as DiGeorge syndrome, according to the FDA statement. The statement emphasized that is should not be used as a stand-alone diagnostic test, or for preimplantation or prenatal testing or screening; population screening; "or for the detection of, or screening for acquired or genetic aberrations occurring after birth, such as cancer."

Moreover, test results "should only be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice, including confirmation by alternative methods, evaluation of parental samples, clinical genetic evaluation, and counseling as appropriate," the statement said. Results should only be interpreted by health care professionals who are board certified in clinical cytogenetics or molecular genetics.

Evaluation of the test included a comparison of results of almost 1,000 blood samples, which found the test was better at detecting certain chromosomal abnormalities than karyotyping and fluorescence in situ hybridization (FISH) chromosomal tests.

"This new tool may help in the identification of possible causes of a child’s developmental delay or intellectual disability, allowing health care providers and parents to intervene with appropriate care and support for the child," Alberto Gutierrez, Ph.D., director of the office of in vitro diagnostics and radiological health in the FDA’s Center for Devices and Radiological Health, said in the statement.

The test is manufactured by Affymetrix.