Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.

IF 2.7 2区医学 Q2 GENETICS & HEREDITY

Prenatal Diagnosis Pub Date : 2025-07-17 DOI:10.1002/pd.6849

Sarah Harris, Neeta L Vora

引用次数: 0

Abstract

Perinatal genetics is a field that continues to experience rapid advances. Various genetic testing strategies are utilized in the prenatal and neonatal period with significant overlap between them. We summarize currently available diagnostic genetic testing options and review indications for genetic testing in the prenatal and neonatal period. With ongoing improvement in genome sequencing and variant interpretation, we anticipate that our understanding of this field of genetics will continue to expand.

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整合从胎儿到新生儿的连续基因检测：产前基因检测及其与新生儿检测重叠的综述。

围产期遗传学是一个继续经历快速发展的领域。在产前和新生儿期间，各种基因检测策略被利用，它们之间有显著的重叠。我们总结了目前可用的诊断基因检测的选择和审查指征基因检测在产前和新生儿时期。随着基因组测序和变异解释的不断改进，我们预计我们对这一遗传学领域的理解将继续扩大。

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

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling