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.

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
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.