Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrome (trisomy 13)
Foetal sex determination
Sex chromosome abnormalities
Turner syndrome (45,X)
Klinefelter syndrome (47,XXY)
XYY syndrome (47,XYY)
XXX syndrome (47,XXX)
DiGeorge syndrome (22q11)
Prader-Willi syndrome and Angelman syndrome (15q11)
Cri-du-chat syndrome (5p15)
1p36 deletion syndrome
Wolf-Hirschhorn syndrome (4p16.3)
WHO IS TRISOMY TEST XY SUITABLE FOR?
TRISOMY test XY is designed for pregnant women upon request and following a genetic consultation. It is particularly suitable:
- when the mother-to-be has previously been diagnosed with one of the fetal chromosome disorders targeted by TRISOMY test XY;
- for pregnant women with an increased risk of potential fetal disability caused by one of the syndromes targeted by TRISOMY test XY, e.g. based on ultrasound screening results;
- for enhancing the accuracy of standard TRISOMY test screening (e.g. to detect smaller-scale chromosome aberrations on top of the standard chromosome 21, 18 and 13 syndromes);
- for detecting trisomy, monosomy, and other, small-scale aberrations associated with chromosomes other than those targeted by standard TRISOMY test screening;
- for pregnant women who want to avoid amniocentesis or suffer from complications that might increase amniocentesis-related risks, such as a higher risk of spontaneous miscarriage, lower blood coagulation, immunisation risks due to Rh incompatibility (negative Rh factor), the period between the 14th and the 16th weeks of pregnancy, uterus myoma, or placenta praevia.
TRISOMY TEST XY PROCEDURE
The procedure for TRISOMY test XY is identical to standard TRISOMY test screening. Mothers-to-be are referred for the test by a gynecologist or a specialist in medical genetics.
1. Blood sampling
Blood samples are taken by a female nurse at your doctor’s office and subsequently sent to the laboratory to be analysed.
2. Payment for TRISOMY test XY
The price of a TRISOMY test XY depends on the country specification.
3. Laboratory blood analysis
You will receive text message notifications from the laboratory throughout the whole procedure.
4. Test results
As a rule, your TRISOMY test XY results will be sent to your doctor within 5 working days of the day your payment is credited to the laboratory account.
5. Appointment with your doctor
Your test results will be disclosed and interpreted to you by your doctor, but only upon completion of the 12th week of your pregnancy*. The laboratory cannot provide test results directly to pregnant women.
* Following a resolution of the Ethics Committee of the Ministry of Health of the Slovak Republic, the Laboratory provides test results only upon completion of the 12th week of pregnancy.