关于无创产前检测 (NIPT)

当婴儿在母亲的体内生长时, 少量的婴儿基因(DNA)会流入到母亲的血液中。无创产前检测能有效的采用那少量的基因检测出由额外或缺失的染色体材料引起的某些异常。

 

您可以在怀孕的第10周开始进行这项血液并能检测到影响胎儿发育的染色体异常症。

简单的血液检测以筛查会影响胎儿发育的异常染色体

最早可以在怀孕的第10周进行

准确度超过99%

可选择知道胎儿的性别

采用全基因组测序方法 （Whole Genome Sequencing）
全面覆盖所有染色体

经由国际认证的韩国实验室进行测试

^高风险患者可获得高达300美元的确认测试资助

StemLife NIPT 可以测试多达142种染色体异常

  1. Trisomy 21

    21三体综合症(唐氏综合症)

  2. Trisomy 18
    18三体综合症 (爱德华综合症)
  3. Trisomy 13
    13三体综合症(巴陶氏综合症)
  4. Trisomy 22
    22三体综合症
  5. Trisomy 16
    16三体综合症
  6. Trisomy 9
    9三体综合症
  7. 16个其他三体
  1. Monosomy X
    单体X (透纳氏综合症)
  2. Trisomy X
    三体X综合症
  3. XXY
    柯林菲特氏综合症
  4. XYY
    雅各伯综合症
  1. 1p36 deletion
  2. 2q33.1deletion
  3. 4p16.3 (Wolf-Hirschhorn Syndrome)
  4. 5p- deletion (Cri-du-chat Syndrome)
  5. 7q11.23 deletion
  6. 11q23 deletion (Jacobsen syndrome)
  7. 15q11.2 deletion (Angelman/Prader-Willi Syndrome)
  8. DiGeorge syndrome
  9. 1p32-p31 deletion syndrome
  10. 1q41-q42 deletion syndrome
  11. 1q43-q44 deletion syndrome
  12. 2p12-p11.2 deletion syndrome
  13. 2p15-p16.1 deletion syndrome
  14. 2q13 deletion syndrome
  15. 2q13 duplication syndrome
  16. 2q31.1 microdeletion syndrome
  17. 2q31.1 duplication syndrome
  18. 2q35 duplication syndrome
  19. 3p25.3 deletion syndrome
  20. 3pter-p25 deletion syndrome
  21. 3q13.31 deletion syndrome
  22. Dandy-Walker syndrome (DWS)
  23. 3q26 microduplication syndrome
  24. 3q29 deletion syndrome
  25. 4q21 deletion syndrome
  26. Axenfeld-Rieger syndrome, type 1 (RIEG1)
  27. 5p13 duplication syndrome
  28. 5q12 deletion syndrome
  29. 5q14.3 deletion (proximal) syndrome
  30. Sotos syndrome
  31. 6p22 microdeletion syndrome
  32. 6q11-q14 deletion syndrome
  33. 6q24-q25 deletion syndrome
  34. Coffin-Siris syndrome 1 (CSS1)
  35. Chordoma
  36. Greig cephalopolysyndactyly syndrome (GCPS)
  37. 7p22.1 microduplication syndrome
  38. 7q11.23 deletion (distal) syndrome
  39. Williams-Beuren syndrome (WBS)
  40. Currarino syndrome
  41. 7q36.3 duplication syndrome
  42. 8p11.2 deletion syndrome
  43. 8p23.1 deletion syndrome
  44. 8q12 microduplication syndrome
  45. Nablus mask-like facial syndrome (NMLFS)
  46. Trichorhinophalangeal syndrome type 2 (TRPS2)
  47. 9p deletion syndrome
  48. 9p13 microdeletion syndrome
  49. 9p24.3 deletion syndrome
  50. 9q33.3q34.11 microdeletion syndrome
  51. Early infantile epileptic encephalopathy 4 (EIEE4)
  52. Kleefstra syndrome 1 (KLEFS1)
  53. 10p11.21-p12.31 microdeletion syndrome
  54. DiGeorge syndrome/velocardiofacial syndrome complex 2 (DSG2)
  55. 10q22.3-q23.2 deletion syndrome
  56. Split-hand/foot malformation 3 (SHFM3)
  57. 10q26 deletion syndrome
  58. Potocki-Shaffer syndrome
  59. WAGR syndrome
  60. WAGRO syndrome
  61. 11q13.2-q13.4 deletion syndrome
  62. 11q22.2-q22.3 microdeletion syndrome
  63. 11q23 deletion syndrome
  64. 12p12.1 microdeletion syndrome
  65. 12q14 microdeletion syndrome
  66. 12q15q21.1 microdeletion syndrome
  67. 13q14 deletion syndrome
  68. 14q11-q22 deletion syndrome
  69. Frias syndrome
  70. 14q24.1-q24.3 microdeletion syndrome
  71. 15q13.3 deletion syndrome (BP4 to BP5) (loss)
  72. 15q13.3 deletion syndrome (BP4 to BP5) (gain)
  73. 15q14 microdeletion syndrome
  74. 15q25.2 deletion (proximal) syndrome
  75. 15q26-qter deletion syndrome
  76. 16p11.2-p12.2 microduplication syndrome
  77. 16p12.2 deletion (proximal) syndrome
  78. 16p13.11 duplication syndrome
  79. 16p13.11 deletion syndrome
  80. Polycystic kidney disease, infantile severe, with tuberous sclerosis (PKDTS)
  81. Rubinstein-Taybi syndrome
  82. Alpha-thalassemia/mental retardation syndrome, chromosome 16-related (ATR-16 syndrome)
  83. 16q22 deletion syndrome
  84. Smith-Magenis syndrome
  85. Yuan-Harel-Lupski syndrome (YUHAL)
  86. 17p12 deletion syndrome
  87. 17p12 duplication syndrome
  88. 17p13.1 deletion syndrome
  89. Miller-Dieker lissencephaly syndrome (MDLS) (loss)
  90. Miller-Dieker lissencephaly syndrome (MDLS) (gain)
  91. 17p13.3 telomeric duplication syndrome
  92. 17q12 deletion syndrome
  93. 17q21.31 deletion syndrome
  94. 17q23.1-q23.2 deletion syndrome
  95. Tetrasomy 18p syndrome
  96. 18p deletion syndrome
  97. 18q deletion syndrome
  98. 19p13 duplication syndrome
  99. 19q13.11 microdeletion syndrome
  100. 20p13 microdeletion syndrome
  101. 21q22.11-q22.12 microdeletion syndrome
  102. 22q11.2 deletion syndrome (distal, DE/F)
  103. 22q11.2 deletion syndrome (LCR22 B/CD)
  104. 22q13 deletion syndrome
  105. 22q13 duplication syndrome
  106. Xp11.22 duplication syndrome
  107. Xp11.22-p11.23 duplication syndrome
  108. Xp11.23 microdeletion syndrome
  109. Xp11.3 deletion syndrome
  110. Xp21 microdeletion syndrome
  111. Xp21.2 microduplication syndrome
  112. Xp22.31 microdeletion syndrome
  113. Xq21 microdeletion syndrome
  114. Xq22.3 telomeric deletion syndrome
  115. Xq27.3-q28 duplication syndrome
  116. Xq28 deletion syndrome
免责声明
没有任何测试是完美的。 DNA测试结果不能为所有孕妇提供明确的遗传风险。游离基因不能取代CVS或羊膜穿刺术的产前诊断的准确性和精确度。患者若具有阳性测试结果或其他测试结果应转介到遗传专家作咨询，并进行入侵性产前诊断以确认测试结果。获得阴性结果不能确保怀孕的过程不受其他影响。没有发现的结果亦不表示完全呈阴性。虽然该测试的结果是高度准确的，亦有机会由于胎盘，母体或胎儿嵌合或其他原因的关系，未必所有的染色体异常都能被检测到。医疗机构有责任提供信息给患者。


参考
1) Screening for fetal aneuploidy. Practice Bulletin No. 163. American College of Obstetricians and Gynecolo-gists. Obstet Gynecol. 2016;127: e123–37.

^ 除了微缺失综合症，这适用于上述染色体异常。.