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非侵入性胎兒染色體檢測
Noninvasive Prenatal Testing (NIPT)
美國婦產科醫學會期刊
美國婦產科醫學會期刊指出-擴大 NIPT 的檢測範圍於胎兒微小片段缺失症候群
SNP-based noninvasive prenatal microdeletion screening is highly accurate. Detection rates were 97.8% for a 22q11.2 deletion (45/46) and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24).Because clinically relevant microdeletions and duplications occur in >1% of pregnancies, regardless of maternal age, noninvasive screening for the general pregnant population shouldbe considered.
Single-nucleotide polymorphism (SNP) ─ based NIPT 對於微小片段缺失檢測具有高度準確性，single-nucleotide polymorphism (SNP) ─ based NIPT 對於狄喬治氏症檢測敏感度達 97.8% (45/46)，其他四種微小片段缺失症檢測敏感度達 100%，1p36 缺失症候群 (1/1)、貓哭症 (24/24)、小胖威力症 (15/15)、天使人症 (21/21)，而且臨床統計顯示微小片段缺失與片段重複發生率大於 1%，single-nucleotide polymorphism (SNP) ─ based NIPT 適合各年齡層的孕婦，各年齡層的孕婦應多考慮此項檢測。
