Dear Expectant Mothers,

Did your doctor mention a more reliable non-invasive screening test in addition to routine screening tests during pregnancy?

With KaryoBaby - Non-Invasive Prenatal Screening (NIPT), fetal chromosomal disorders can be detected with blood taken from the mother.

• What is KaryoBaby-NIPT?

KaryoBaby-NIPT is a non-invasive, rapid, and reliable prenatal screening test (Non-Invasive Prenatal Screening / NIPT) of Yeditepe University Genetic Diseases Evaluation Center. The examination is done on blood taken from the mother.

With KaryoBaby-NIPT, numerical abnormalities of Down Syndrome (Trisomy 21), Trisomy 13, 18, and sex chromosomes as well as numerical changes related to all other chromosomes that may occur in the baby are examined on the blood taken from the mother. There is also the KaryoBaby-NIPT Plus option where other numerical changes such as relatively common microdeletion syndromes are examined.

KaryoBaby - NIPT Technology

During pregnancy, there are extracellular DNA (hdDNA) fragments that circulate in the mother's blood and also belong to the fetus. Fetal hdDNA passes into the maternal blood circulation from the 5th week of pregnancy and its density increases gradually in the following weeks. In the NIPT test, circulating hdDNA enables the detection of chromosomal disorders in the fetus using next-generation sequencing technologies and bioinformatics analysis. In order to carry out the test and ensure the accuracy of the results, the fetal hdDNA ratio in the maternal blood circulation reaches a sufficient level from the 10th week of pregnancy.

• What are the Advantages of KaryoBaby - NIPT Test?

• Easy

No other procedure is performed except for a short procedure of blood collection from the mother. No special conditions (such as hunger) are required for blood collection. Analysis results in 10-12 working days.

• Early Detection Opportunity

The fact that the test can be applied from the 10th week of pregnancy provides an advantage for both the doctor and the families for clinical decisions to be taken at the next stage.

• Safe Method Reliable Results

The current system for determining the risk for chromosomal diseases is screening tests performed with maternal blood sampling, in which ultrasound examinations are added from the first trimester of pregnancy. In case of increased risk in screening tests or advanced maternal age, invasive methods are recommended for definitive diagnosis. These methods are chorionic villus sampling, amniocentesis, and cordocentesis, which vary according to the week of pregnancy.

The reliability of routine screening tests is limited and both false positive and false negative rates are high. This may lead pregnant women to unnecessary invasive practices. In the KaryoBaby-NIPT test, the false negative rate is very low. KaryoBaby-NIPT test gives results with less than 0.1% margin of error and 99% accuracy in detecting Trisomy 21, which causes Down Syndrome. With KaryoBaby-NIPT, the realization accuracy of the risks detected in other screening tests or related to advanced maternal age can be determined. Thus, unnecessary invasive interventions and the risks such as miscarriage or infection caused by these interventions are avoided.

• Screened Chromosome Disorders

With KaryoBaby-NIPT, it is possible to detect numerical anomalies of all chromosomes as well as the most common ones listed below.

• Trisomy 21 (Down Syndrome)
• Trisomy 13
• Trisomy 18
• Numerical Anomalies of Sex X,Y Chromosomes
• Numerical variation of all other chromosomes

• For Whom Is KaryoBaby - NIPT Test Recommended?

Although the KaryoBaby-NIPT test is recommended for all pregnant women, especially recommended conditions are as follows:

• At the time of the test, the mother's age 35 and above,
• Having a history of chromosomal disorders in previous pregnancies,
• Presence of ultrasonographic findings showing an increased risk of aneuploidy (numerical variation in chromosomes) in the fetus,
• Confirmation of previous screening results,
• Having previously received IVF treatment or having an increased risk such as a history of recurrent miscarriage,
• Having a carrier history of balanced structural chromosomal abnormality (such as translocation, inversion) (with genetic counseling),
• Presence of a family request.

• What are the Limitations and Inapplicability Conditions of the KaryoBaby - NIPT Test?

The test may fail in the following cases. Depending on the possible cause, the test can be repeated.

• Less than 10 weeks of pregnancy
• Low rate of free fetal DNA (Fetal Fraction) in maternal blood
• The mother's receiving a blood/bone marrow transplant or stem cell therapy in the past 3 months
• Presence of chronic diseases that increase maternal cell destruction (such as rheumatological, autoimmune diseases)
• The mother's body mass index being 35 and above

If an anomaly is detected in twin pregnancies, information about which baby the anomaly belongs to cannot be given.

The test definitely does not work in multiple pregnancies (such as triplet, or quadruplet) other than twin pregnancies.

• General Information About the KaryoBaby - NIPT Test

Test Material

It is examined by taking 10 ml of blood from the expectant mother into tubes specially produced for the test. The blood taken should be delivered to our center within 72 hours at room temperature.

Blood Collection Time

From the 10th week of pregnancy, blood is taken from the mother for screening. In twin pregnancies, the 12th week should be waited.

Working Method

The study is carried out using the MGI DNBSEQ-G400 instrument and the MGIEasy Cell-Free DNA Library Prep kit with the next-generation sequencing method. Bioinformatics evaluation is performed using the Jingke Biotech® analysis system.

KaryoBaby-NIPT Test Results and Reporting

The results of all chromosomes examined in the KaryoBaby-NIPT test are written as “not detected” or “high risk detected” in the reports. In the KaryoBaby-NIPT test performed in our center, false positive or false negative results rates are very low. The fact that this rate is low is of high importance for the family because it protects the pregnant woman from unnecessary and risky invasive procedures (amniocentesis, chorionic villus sampling). However, it should not be forgotten that although this test has very high accuracy and reliability, it is ultimately a screening test, and the expression "not detected" in the report does not mean that the baby is 100 percent healthy, and the expression "high risk detected" does not mean that the baby is 100 percent sick.

It is always recommended to evaluate the report together with clinical findings, and in cases where a high risk for the chromosomal anomaly is detected, invasive methods suitable for the gestational week, chorionic villus sampling (CVS), amniocentesis or post-cordocentesis fetal chromosome analysis should be performed in order to make a definitive diagnosis.

The accuracy rate of the test for trisomy 21 is 99.9% and the false positive rate is <0.2%, and the accuracy rates for numerical anomalies of other chromosomes are approximately 90-95%.