Mengenai Ujian Pranatal Yang Tidak Invasif (NIPT)

Semasa bayi membesar di dalam rahim si ibu, sebahagian kecil daripada DNA bayi akan memasuki saluran darah ibunya. NIPT ialah ujian darah yang tidak invasif yang mampu menyaring DNA bayi untuk ketidaknormalan tertentu yang terhasil akibat bahan kromosom yang terlebih atau hilang.

 

Ujian darah yang tidak invasif yang boleh menyaring ketidaknormalan kromosom yang dikenalpasti secara lazimnya pada tempoh kehamilan seawal 10th minggu.

Sehingga 126 Kondisi Yang Boleh Diuji Oleh StemLife NIPT

  1. T21 (Sindrom Down)
  2. T18 (Sindrom Edwards)
  3. T13 (Sindrom Patau)
  4. Trisomi 22
  5. Trisomi 16
  6. Trisomi 9
  1. Monosomi X (Sindrom Turner)
  2. Trisomi X (Triple X)
  3. XXY (Sindrom Klinefelter)
  4. XYY (Sindrom Jacob’s)
  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. 22q11.2 deletion (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. 16p13.11 duplication syndrome
  31. 6q11-q14 deletion syndrome
  32. Rubinstein-Taybi syndrome
  33. Chordoma
  34. Smith-Magenis syndrome
  35. 7q11.23 deletion (distal) syndrome
  36. 17p12 duplication syndrome
  37. 7q36.3 duplication syndrome
  38. 8q12 microduplication syndrome
  39. 9p deletion syndrome
  40. 9p24.3 deletion syndrome
  41. 9q33.3q34.11 microdeletion syndrome
  42. Early infantile epileptic encephalopathy 4 (EIEE4)
  43. Kleefstra syndrome 1 (KLEFS1)
  44. 10p11.21-p12.31 microdeletion syndrome
  45. DiGeorge syndrome/velocardiofacial syndrome complex 2 (DSG2)
  46. 10q22.3-q23.2 deletion syndrome
  47. Split-hand/foot malformation 3 (SHFM3)
  48. 10q26 deletion syndrome
  49. Potocki-Shaffer syndrome
  50. WAGR syndrome
  51. WAGRO syndrome
  52. 11q13.2-q13.4 deletion syndrome
  53. 11q22.2-q22.3 microdeletion syndrome
  54. 11q23 deletion syndrome
  55. 12p12.1 microdeletion syndrome
  56. 12q14 microdeletion syndrome
  57. 12q15q21.1 microdeletion syndrome
  58. 13q14 deletion syndrome
  59. 14q11-q22 deletion syndrome
  60. Frias syndrome
  61. 14q24.1-q24.3 microdeletion syndrome
  62. 15q13.3 deletion syndrome (BP4 to BP5) (loss)
  63. 15q13.3 deletion syndrome (BP4 to BP5) (gain)
  64. 15q14 microdeletion syndrome
  65. 15q25.2 deletion (proximal) syndrome
  66. 15q26-qter deletion syndrome
  67. 16p11.2-p12.2 microduplication syndrome
  68. 16p12.2 deletion (proximal) syndrome
  69. 6p22 microdeletion syndrome
  70. Polycystic kidney disease, infantile severe, with tuberous sclerosis (PKDTS)
  71. Coffin-Siris syndrome 1 (CSS1)
  72. 16q22 deletion syndrome
  73. 7p22.1 microduplication syndrome
  74. 17p12 deletion syndrome
  75. Currarino syndrome
  76. 8p11.2 deletion syndrome
  77. Nablus mask-like facial syndrome (NMLFS)
  78. 9p13 microdeletion syndrome
  79. Miller-Dieker lissencephaly syndrome (MDLS) (loss)
  80. Miller-Dieker lissencephaly syndrome (MDLS) (gain)
  81. 17p13.3 telomeric duplication syndrome
  82. 17q12 deletion syndrome
  83. 17q21.31 deletion syndrome
  84. 17q23.1-q23.2 deletion syndrome
  85. Tetrasomy 18p syndrome
  86. 18p deletion syndrome
  87. 18q deletion syndrome
  88. 19p13 duplication syndrome
  89. 19q13.11 microdeletion syndrome
  90. 20p13 microdeletion syndrome
  91. 21q22.11-q22.12 microdeletion syndrome
  92. 22q11.2 deletion syndrome (distal, D-E/F)
  93. 22q11.2 deletion syndrome (LCR22 B/C-D)
  94. 22q13 deletion syndrome
  95. 22q13 duplication syndrome
  96. Xp11.22 duplication syndrome
  97. Xp11.22-p11.23 duplication syndrome
  98. Xp11.23 microdeletion syndrome
  99. Xp11.3 deletion syndrome
  100. Xp21 microdeletion syndrome
  101. Xp21.2 microduplication syndrome
  102. Xp22.31 microdeletion syndrome
  103. Xq21 microdeletion syndrome
  104. Xq22.3 telomeric deletion syndrome
  105. Xq27.3-q28 duplication syndrome
  106. Xq28 deletion syndrome
  107. Sotos syndrome
  108. 16p13.11 deletion syndrome
  109. 6q24-q25 deletion syndrome
  110. Alpha-thalassemia/mental retardation syndrome, chromosome 16-related (ATR-16 syndrome)
  111. Greig cephalopolysyndactyly syndrome (GCPS)
  112. Yuan-Harel-Lupski syndrome (YUHAL)
  113. Williams-Beuren syndrome (WBS)
  114. 17p13.1 deletion syndrome
  115. 8p23.1 deletion syndrome
  116. Trichorhinophalangeal syndrome type 2 (TRPS2)
Penafian
Tiada ujian yang sempurna. Hasil ujian DNA tidak memberikan risiko genetik yang pasti pada semua individu. DNA bebas sel tidak menggantikan ketepatan dan ketirisan diagnosis pranatal dengan CVS atau amniosentesis. Pesakit dengan hasil ujian positif atau penemuan tambahan harus dirujuk untuk kaunseling genetik dan ditawarkan diagnosis pranatal invasif untuk pengesahan hasil ujian. Hasil ujian negatif tidak memastikan kehamilan tidak terjejas. Ketiadaan penemuan tambahan tidak menunjukkan hasil yang negatif. Walaupun keputusan ujian ini sangat tepat, tidak semua kelainan kromosom dapat dikesan disebabkan oleh mosaik plasenta, ibu atau janin, atau sebab lain. Penyedia perkhidmatan kesihatan bertanggungjawab dalam penggunaan maklumat ini bagi pengurusan pesakit mereka.


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

^ It is only applicable to all the chromosomal abnormalities as stated above except microdeletion syndromes.