Why is this Prenatal Screening test your best option?
This is the most validated prenatal screening test on the market with a published study based on the outcomes of circa 147,000 pregnancies and over 1 million tests performed worldwide to date for only R7900. We also offer one of the most comprehensive testing lists including deletion and micro-deletion syndromes at no additional cost (complete list of what is tested is provided below).
There is a variety of prenatal screening options to choose from. However, unlike the non-invasive prenatal screening test, traditional screening methods provide a lower accuracy rate and higher false-positive rates. A false positive is where you receive a positive result for a test when you should have received a negative result.
In addition, invasive diagnostic tests such as Amniocentesis and Chorionic villus sampling (CVS) involve risks such as a 0.5 to 1% chance of miscarriage, leakage of the amniotic fluid or damage to the baby’s limbs. On the contrary, this non-invasive test is considered 100% safe since it only requires a 10ml maternal blood sample and does not pose any risks to the mother or the unborn baby.
We also offer you the opportunity to discover the sex of your baby at no extra charge! Should you be interested in this service, please make sure to select the respective option when ordering the test.
This test can detect the following Chromosomal Abnormalities
A trisomy is a type of aneuploidy (an abnormal number of chromosomes) in which there are three chromosomes instead of the normal two.
|Trisomy 9||Patau Syndrome (Trisomy 13)||Trisomy 16|
|Edward’s syndrome (Trisomy 18)||Down Syndrome (Trisomy 21)||Trisomy 22|
The test has been recently upgraded and below you will find a list of abnormalities and disorders that are also tested for NO additional cost!
SEX CHROMOSOME ABNORMALITIES – NO ADDITIONAL CHARGE
A sex chromosome aneuploidy is a numeric abnormality of an X or Y chromosome, with the addition or loss of an entire X or Y chromosome.
|Turner’s syndrome (XO)||Triple X (XXX)|
|Klinefelter’s syndrome (XXY)||Jacob Syndrome (XYY)|
DELETION & MICRODELETION SYNDROMES – NO ADDITIONAL CHARGE
Deletion syndromes are a group of clinically recognisable disorders caused by the deletion of a small chromosomal segment.
|1p36 microdeletion Syndrome||Van der Woude Syndrome I (VWS)||12q14 microdeletion Syndrome|
|Feingold Syndrome IS||Split-Hand/Foot Malformation type 5 (SHFM5)||Glass Syndrome|
|Holoprosencephaly type 6 (HPE6)||Microphthalmia type 6 Syndrome, pituitary hypoplasia||Rieger Syndrome type 1 (RIEG1)|
|Cri du Chat (5p deletion) Syndrome||Cornelia de Lange Syndrome I (CDLS)||Alpha Thalassemia|
|Mental Retardation Syndrome||SIM1||Saethre-Chotzen Syndrome (SCS)|
|8p23.1 duplication Syndrome||8p23.1 deletion Syndrome||Trichorhinophalangeal type I Syndrome|
|Branchlootorenal dysplasia Syndrome I (BOR)/Melnick-Frazer Syndrome||Distal Arthrogryposis type 2B (DA2B)||Langer-Giedion Syndrome (LGS)|
|Monosomy 9p Syndrome||2 DiGeorge type 2 Syndrome (DGS2)||Split-hand/foot malformation type 3 (SHFM3)|
|Chromosome 10q22.3-q23.31 microdeletion Syndrome||Bannayan-Riley-Ruvalcaba Syndrome (BRRS)||Cowden Syndrome (CD)|
|Chromosome 10q deletion Syndrome||Androgen insensitivity Syndrome (AIS)||Wilms tumor 1 (WT1)|
|11q11-q13.3 duplication Syndrome||Jacobsen Syndrome||1q41-q42 microdeletion Syndrome|
|14q11-q22 deletion Syndrome||Dandy-Walker Syndrome (DWS)||Angelman Syndrome/Prader-Willi Syndrome|
|Deafness-infertility Syndrome||15q26 overgrowth Syndrome||Diaphragmatic hernia, congenital (HCD/DIH1)|
|5q21.1-q31.2 deletion Syndrome||16p11.2-p12.2 microdeletion Syndrome||16p11.2-p12.2 microduplication Syndrome|
|Potocki-Lupski Syndrome (17p11.2 duplication Syndrome)||Smith-Magenis Syndrome||17q21.31 deletion Syndrome|
|17q21.31 duplication Syndrome||Holoprosencephaly type 4 (HPE4)||Chromosome 18p deletion Syndrome|
|Duchenne/Becker mascular dystrophy (DMD/BMD)||Chromosome 18q deletion Syndrome||Holoprosencephaly type 1 (HPE1)|
|Cat-eye Syndrome (CES)||Microphthalmia with linear skin defects||Orofaciodigital Syndrome|
|Dyggve-Melchior-Clausen Syndrome (DMC)||Xp11.22-p11.23 microduplication Syndrome||Aniridia II & WAGR Syndrome|
|Leukodystrophy with 11q14.2-q14.3||X-linked lymphoproliferative Syndrome (XLP)||0 Mental retardation X-linked growth horm. Def (MRGH)|
How does the test work? What is the Turnaround time?
The non-invasive screening test only requires a small blood sample of 10ml from the expectant mother (please note that a qualified person is required to collect the sample via a standard medical blood draw). Once your sample is received at the laboratory, scientists use whole-genome sequencing technology and four different proprietary bioinformatics analysis pipelines to analyse the foetal DNA and accurately confirm or exclude the presence of a genetic abnormality. For instance, scientists can determine that the expectant mother is carrying a baby with Down’s syndrome since the ratio of genetic material associated with chromosome 21 will be higher due to the extra, third copy of that chromosome. Results for this test are available in as little as 10 to 14 working days! Please note that turnaround time starts from the moment samples reach the laboratory.
For complete peace of mind order this highly advanced screening test today, starting from only R7900!
Even though this test is considered as the most accurate screening test available for Trisomy 21, other Trisomies and specific chromosomal disorders, it is important to note that it still remains a screening test and not a diagnostic test and that it does not screen for all chromosomal conditions. Please also note that this test cannot replace diagnostic tests such as Amniocentesis and Chorionic villus sampling but it can help expectant mothers avoid the need to undergo these invasive tests.