Screening for fetal aneuploidy

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• 作者：Britton D. Rink ; MD ; MS^a ; ^{Britton.Rink@mchs.com" class="auth_mail" title="E-mail the corresponding author} ; Mary E. Norton ; MD^b
• 关键词：prenatal screening ; chromosomal aneuploidy ; genetic testing ; cell-free fetal DNA ; prenatal ultrasound ; prenatal genetic counseling
• 刊名：Seminars in Perinatology
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：40
• 期：1
• 页码：35-43
• 全文大小：429 K

文摘

Screening is currently recommended in pregnancy for a number of genetic disorders, chromosomal aneuploidy, and structural birth defects in the fetus regardless of maternal age or family history. There is an overwhelming array of sonographic and maternal serum-based options available for carrying out aneuploidy risk assessment in the first and/or second trimester. As with any screening test, the patient should be made aware that a “negative” test or “normal” ultrasound does not guarantee a healthy baby and a “positive” test does not mean the fetus has the condition. The woman should have both pre- and post-test counseling to discuss the benefits, limitations, and options for additional testing. Rapid advancements of genetic technologies have made it possible to screen for the common aneuploidies traditionally associated with advanced maternal age with improved levels of accuracy beyond serum and ultrasound based testing. Prenatal screening for fetal genetic disorders with cell-free DNA has transformed prenatal care with yet unanswered questions related to the financial, ethical, and appropriate application in the provision of prenatal risk assessment.