About Non-Invasive Prenatal Testing (NIPT)

As the baby grows in the mother’s womb, a small amount of the baby’s DNA will enter the mother’s bloodstream. NIPT is a non-invasive blood test that able to screen the baby’s DNA for certain abnormalities caused by extra or missing chromosome material.

 

A Non-invasive Blood Test That Screens For Common Chromosomal Abnormalities
As Early As 10th Week Of Gestation.

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    Up to 142 Conditions Can Be Tested By StemLife NIPT

    1. T21 (Down Syndrome)
    2. T18 (Edwards Syndrome)
    3. T13 (Patau Syndrome)
    4. Trisomy 22
    5. Trisomy 16
    6. Trisomy 9
    7. Other 16 trisomies
    1. Monosomy X (Turner Syndrome)
    2. Trisomy X (Triple X)
    3. XXY (Klinefelter Syndrome)
    4. XYY (Jacob’s Syndrome)
    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
    Disclaimer
    No test is perfect. DNA test results do not provide a definitive genetic risk in all individuals. Cell-free DNA does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. Patients with positive test result or an additional finding should be referred for genetic counselling and offered invasive prenatal diagnosis for confirmation of test results. A negative test result does not ensure an unaffected pregnancy. The absence of an additional finding does not indicate a negative result. While results of this testing is highly accurate, not all chromosomal abnormalities may be detected due to placental, maternal or fetal mosaicism, or other causes. The healthcare provider is responsible for the use of this information in the management of their patient.


    Reference :
    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.

    SBT/PM-042/Rev.00