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非侵入性胎兒染色體檢測
Noninvasive Prenatal Testing (NIPT)
美國婦產科醫學會新訊
2015 年美國婦產科醫學會 (ACOG) 最新聲明
Noninvasive prenatal screening that uses cell-free DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy.All tests have a high sensitivity and specificity for trisomy 18 and trisomy 21, regadless of which molecular technique is used.
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The patient choosing this testing should understand the limitations and benefits of this screening paradigm in the context of alternative screening and diagnostic options.
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The cell-free DNA test will screen for only the common trisomies and, if requested, sex chromosome composition.
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Routine cell-free DNA screening for microdeletion syndromes should not be performed.
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Cell-free DNA screening is not recommended for women with multiple gestations.
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Cell-free DNA screening does not assess risk of fetal anomalies such as neural tube defects or ventral wall defects; patients who are undergoing cell-free DNA screening should be offered maternal serum alpha-fetoprotein screening or ultrasound evaluation for risk assessment.
懷孕婦女利用細胞游離 ＤＮＡ 篩檢胎兒染色體非整倍體疾病，是一項具有極大潛力的產前篩檢工具。在檢測常見的三染色體疾病上 (Trisomy 21, Trisomy18, Trisomy 13）皆表現出高度的敏感性及特異性。美國婦產科醫學會於 2015 年再次針對非侵入性胎兒染色體檢測提出幾項臨床上的使用建議，包含 1. 在接受 NIPT 前需詳細了解檢測的優缺點，並提供替代的檢測方法的資訊 (包含血清篩檢及染色體診斷)；2. 細胞游離 DNA 僅適用於檢測常見的染色體異常疾病 (Common Trisomies) ；3. 常規的 NIPT 檢測，不適合用來篩檢微小片段缺失疾病；4. 雙胞胎不建議使用 NIPT ；5. NIPT 無法提供神經管缺損疾病或是其他超音波異常，因此 NIPT 的受檢者建議額外接受血清 AFP 檢測及超音波檢查。