Polyclinic

**BabySEQ** evaluates chromosomal disorders in babies and chromosomal abnormalities in the placenta, while also screening and reporting on developmental delays in the baby, preeclampsia during pregnancy, and other pregnancy-related risks. BabySEQ, a non-invasive prenatal method, is a next-generation screening that tests for microdeletions and various chromosomal disorders such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome) in the fetus without any invasive procedures that could pose a risk.

Currently, tests based on NIPT, like BabySEQ, are the most successful known tests for screening these disorders. BabySEQ, performed at our center, has become an increasingly popular screening method in recent years because it is simple and carries no invasive risks. BabySEQ includes four separate panels depending on your preferences:

1. **BABYSEQ COMPLETE SET FOR ALL CHROMOSOMES**
BabySEQ analyzes the number of chromosomes in the fetus (46 chromosomes, 23 pairs) for the presence of quantitative changes (aneuploidies) through bioinformatics analysis. In cases of twin pregnancies, the basic panel should be used, as literature data shows that the reliability for microdeletions is slightly lower, though precise assessment is not given.

2. **BABYSEQ COMPLETE SET FOR ALL CHROMOSOMES + MICRODELETIONS**
BabySEQ analyzes quantitative changes (aneuploidies) in the 46 chromosomes of the fetus (23 pairs) and additionally checks for microdeletions and microduplications. The report includes 89 microdeletions and microduplications, and also reports specific regions where these are detected.

3. **BABYSEQ RARE**
   
   What is BabySEQ RARE?
   In addition to the expanded BabySEQ panel, the BabySEQ RARE package also screens for SMA, Cystic fibrosis, and Fragile X syndrome. This package includes the following:
   – BabySEQ complete panel for the fetus
   – SMA MLPA
   – Full gene for SMA
   – Full gene for Cystic fibrosis (from both parents)
   – Screening for Fragile X (from the mother)
   
   BabySEQ is a frequently requested test for screening chromosomal disorders. Recognizing that families may have concerns about other diseases besides chromosomal issues, we expanded our BabySEQ test to include carrier testing for three additional conditions. In our BabySEQ R package, we examine all chromosomes, microduplications, and microdeletions in the fetus. Additionally, we perform carrier testing for SMA, Cystic fibrosis, and Fragile X for both parents. If the test identifies any risks for the fetus, the clinician and family will be informed, and further tests will be planned as needed based on the results. For this test, blood from the father and mother is required using the BabySEQ tube provided by our center. No additional fees are charged for any further tests performed on the fetus based on the results of this test.
   
   4. **BABYSEQ XL**
   
   What is BabySEQ XL?
   The BabySEQ XL test offers an extensive panel that explores all chromosomal abnormalities in the fetus. Additionally, it includes screening for over 1,000 diseases in both parents. The package includes:
   – BabySEQ Complex Panel for the fetus
   – From both parents: Full exome sequencing for identifying high-risk conditions with significant morbidity and mortality. Additionally, MLPA testing for congenital adrenal hyperplasia.
   – From the mother: Analysis of Fragile X repeat count.
   
   In this comprehensive panel, we assess the risk of diseases in the fetus by examining all chromosomes and checking for microduplications/microdeletions. Additionally, broad genetic screening is performed for both parents to test carrier status for over 1,000 diseases. If a risk is detected for the fetus, both the clinician and family will be informed, and additional tests will be planned if necessary, based on the results. For this test, blood from both the father and mother is required using the BabySEQ tube provided by our center. No additional charges are made for any further tests performed on the fetus based on the results of this test.

**Opinions from our center:**
The most common chromosomal disorders in society are reported as 1/400. While the types of chromosomal disorders can vary, 50-90% of them show signs on ultrasound. However, there are patients who do not show signs on ultrasound.

**What does NIPT provide?**
– **Assessment of Chromosomal Structure of the Placenta:** This test allows the analysis of the chromosomal structure of the placenta.
– **Diagnosis of Fetal Chromosomal Disorders:** If an anomaly is detected in the test and the amniotic fluid results are consistent, a diagnosis for fetal chromosomal disorders is provided.
– **Diagnosis of Limited Mosaicism:** If the amniotic fluid is not consistent, a diagnosis for limited mosaicism in the placenta can be provided.
– **Detection of Risk for IUGR and Preeclampsia:** This test enables the detection of increased risk for IUGR and preeclampsia.
– **Need for Screening of All Chromosomes:** All chromosomes must be scanned for these diagnoses.
– **Microdeletion Syndromes:** These syndromes occur 1/2500, with a 30% chance of ultrasound detection. These tests allow the identification of a significant portion of these disorders.
– **Increased Chances for Diagnosis:** If evaluated correctly, the test increases the chance of diagnosing conditions like uniparental disomy, which cannot be diagnosed through amniocentesis.
– **Contribution to the Health of the Fetus and Mother:** Overall, the test contributes to research concerning the health of the fetus and mother. These benefits can be achieved through accurate clinical genetic assessment.

**What does it not provide?**
– **Does not diagnose all chromosomal disorders:** It cannot identify all chromosomal disorders.
– **Does not diagnose all genetic disorders:** It does not provide diagnoses for all genetic disorders.
– **Not a tool for diagnosing or screening non-chromosomal disorders:** It does not serve as a tool to detect non-chromosomal disorders.

**When is it performed?**
– After the 11th week of pregnancy.
– After measuring NT: If possible, the test is done after measuring NT.
– When there is no genetic history in the family: It can be used if the family has no history of genetic disorders.

**Who should be tested?**
– All pregnant women: The test can be used as a screening test for all pregnant women.

**When is it specifically not performed?**
– Positive family history: When there is suspicion of genetic disorders.
– Increased NT: NT ≥ 3.5 mm – if the individual does not want intervention, only a risk assessment for chromosomal disorders can be performed.
– Presence of ultrasound signs: If there are any ultrasound signs.
– High risk in biochemical screening: In multiple pregnancies with a high risk (1/100 or more) – if the individual does not want intervention, only a risk assessment for chromosomal disorders can be performed.
– Partial mole: In this case, the test is not applied.