NACE® – alternative to amniocentesis
What is NACE?
The NACE test is a non-invasive prenatal test. This means that it is completely safe for you and your baby. All you need to do the test is a small blood sample taken from your hand – just like any other routine blood test.
The NACE test uses a special technology to compare maternal DNA with that of the fetus to determine with great accuracy and reliability whether certain abnormalities are present.
During pregnancy, a baby’s DNA mixes with DNA from his mother’s blood. Scientific advances in genetics allow us to detect this fetal DNA in the mother’s blood and screen genetic data for the baby’s chromosomes.
What are the main advantages of the test NACE and NACE Extended?
- Painless, non-invasive prenatal screening, without any risk to the fetus;
- NACE detects chromosome abnormalities 21, 18, 13, Х and У;
- NACE Extended has the same characteristics as NACE, as in addition to the information
- NACE tests all chromosomes and detects trisomies in chromosomes 9 and 16, which underlie the presence of miscarriages in the first instance of pregnancy, and identify six microdeletions associated with the main genetic syndromes (DiGeorge syndrome, Velo-cardio-facial syndrome, 1p36 delition syndrome, Angelman syndrome, Prader-Willi syndrome, Cri du chat syndrome, Wolf-hirschhorn syndrom);
- NACE is applicable in singleton and multiple pregnancies, and NACE Extended – only in singleton pregnancies;
- 99,9% recognition of Down syndrome;
- Index of false-positive results < 0.1%for Down syndrome;
- Valid in patients with a donor egg;
- Valid in multiple pregnancies;
- Valid for all races, ethnic groups and body mass indices;
- It can be done after the 12th week of gestation;
- Includes genetic counseling;
- The result is ready in 15 days;
- Includes confirmation via QF-PCRin case of a positive result and a second blood test without additional payment in case of non-informative results;
- Significantly lower value compared to other similar diagnostic products.
What will NACE tell me ?
The NACE test checks for chromosomal abnormalities in the baby. Humans have 23 pairs of chromosomes and a total of 46 chromosomes (two copies of each pair).The first 22 pairs are numbered from 1 to 22. The last pair determines our gender. Girls have two X chromosomes, and boys have one X chromosome and one Y chromosome. Health and development problems occur if there is a missing or extra chromosome.
When there is an additional copy of the chromosome (ie, three copies instead of two), this is called a “trisomy”.
Who can take the test and when?
- The NACE test is intended for all those women who want to rule out the presence of a specific chromosomal abnormality in the fetus (chromosomes 21, 18, 13, Х and У) and at the same time they do not want to endanger their pregnancy.
- NACE can be done in any pregnant woman, as well as pregnancies achieved through in-vitro techniques, including pregnancies from a donor egg.
- The NACE test can also be used in case of multiple pregnancy.
- Тестът NACE Extended is only applicable in singleton pregnancies.
How reliable is NACE?
NACE detects pregnancies with Down syndrome with maximum accuracy. Similarly, the test detects other common chromosomal abnormalities (chromosomes 18, 13, Х and У) with the same high percentage of reliability. However, the test does not analyze all possible problems (genetic or otherwise) that may affect the unborn baby.
What kind of result will I get?
When the test shows that there is a high risk of a chromosomal abnormality, your doctor will inform you of other tests to confirm this diagnosis.
What chromosomal abnormalities can be detected by NACE?
NACE is a comprehensive, non-invasive prenatal test. It includes tests to detect chromosome abnormalities 21, 18 and 13 (Down, Edwards and Patau syndromes). It also includes research on the most common abnormalities in the sex chromosomes (X и Y). Moreover, technology NACE allows us to obtain information about additional alterations of other chromosomes by analyzing the whole set of chromosomes.
NACE Extended has the same characteristics as NACE, as in addition to the information from NACE , tests all chromosomes and detects trisomies in chromosomes 9 and 16, which are the basis for the presence of miscarriages in the first instance of pregnancy, as well as identifies six microdeletions associated with the main genetic syndromes(DiGeorge syndrome, Velo-cardio-facial syndrome, 1p36 delition syndrome, Angelman syndrome, Prader-Willi syndrome, Cri du chat syndrome, Wolf-hirschhorn syndrom).
Do I have to take NACE?
The NACE test is recommended for all women who want to make sure that their future baby is free of the most common chromosomal abnormalities without putting them at risk when performing a chorionic biopsy and amniocentesis.
The test is particularly suitable for women at high risk of chromosomal abnormalities after screening in the first trimester of pregnancy (ultrasound and hormonal analysis), who have had a previous pregnancy with Down syndrome and who have suspected abnormal ultrasound examinations for fetal morphology. The method is also recommended for achieving pregnancy in women of advanced reproductive age.
How NACEis performed ?
- You consult with our specialist gynecologist
- Your venous blood sample is taken
- The sample is sent for testing
- The result is ready in 15 days
Application of NACE in Bulgaria:
For the first time in Bulgaria, the innovative prenatal screening NACE® is applied in the Specialized Hospital of Obstetrics, Gynecology and Reproductive Medicine “Sofia”.
Scientific publications about the test NACE
- Non-invasive prenatal test for foetal aneuploidies. Opinion no. 545 the American College of Obstetricians and Gynecologists. Obstet Gynecol 2012;120:1532–4.
- Dan S., et al. Clinical application of MPS-based prenatal non invasive fetal trisomy test for trisomías 21 and 18 in 11105 pregnancies with mixed risk factors.
- Wellesley et al.2012: Eur J of Hum Gen. 11 January 2012.
- Chui et al., BMJ 2011;342:c7401.
PANORAMA- non-invasive prenatal test
What is the purpose and scope of the test?
The test determines the presence of chromosomal abnormalities in the fetus and assesses the risk of developing the relevant genetic defects by analyzing fetal DNA of placental origin, circulating freely in the mother’s peripheral blood. The test covers the most common numerical and structural defects of autosomes and sex chromosomes, including:
- trisomies of chromosomes 21 (T21 – Down syndrome), 18 (T18 – Edwards syndrome), 13 (T13 – Patau syndrome);
- trisomies on sex chromosomes 47XXX, 47XXY (Klinefelter’s syndrome) and 47XYY (Jacobs’ syndrome);
- monosomy on X chromosome – 45X (Turner syndrome);
- triploidy – 3n / 69;
- microdeletions in chromosomes 22 (22q11.2 deletion or DeGeorgy Syndrome), 1 (1p36 deletion syndrome), 5 (Cree du Cha syndrome) and 15 (Angelman and Prader-Willi syndromes);
PANORAMA is available in 3 options, giving the opportunity to determine the sex of the fetus:
- PANORAMA main panel – analyzes chromosomes 13, 18, 21, X and Y and triploidy (applicable in singleton pregnancies, monozygotic and dizygotic twins and singleton pregnancies with a donor egg);
- PANORAMA extended panel – analyzes chromosomes 13, 18, 21, Х и Y, triploidy and microdeletion 22q11.2 (applicable only in singleton and twin multi-zygote pregnancies);
- PANORAMA full panel – analyzes chromosomes13, 18, 21, Х и Y, triploidy and microdeletion 22q11.2, 1р36 and the Cree du Sha, Angelman and Prader-Willi syndromes (applicable only in singleton pregnancies);
PANORAMA is an extremely useful test for early screening of genetic defects of the fetus (9+ g.s.) associated with the increased incidence of miscarriages and stillbirths; with severe physical and functional disorders in the embryo; life-threatening conditions in the newborn with involvement of the heart, brain and other internal organs; with disorders in the growth and neuropsychological development of the child, as well as with a danger to the health of the pregnant mother such as preeclampsia and heavy bleeding.
PANORAMA uses state-of-the-art technology to analyze cell-free DNA isolated from the mother’s blood plasma and white blood cells. Cell-free DNA is subjected to multiplex amplification by polymerase chain reaction of 19,488 polymorphic regions located on chromosomes 13, 18, 21, Х, Y and others, and the amplification products are sequenced. The millions of data obtained are processed by a specifically developed software product – NATUS(Next-generation Amplification Test Using SNPs)
PANORAMA shows 100% specificity on all analyzed mutations, and the sensitivity of the test is> 99% for trisomy 21 and 13, triploidy, microdeletions 1р36 и 5р- and between 93-96% for trisomy 18, monosomy X, and for DeGeorge, Prader-Valley, and Angelman syndromes. Its analytical sensitivity is over 4% fetal DNA fraction.
Execution of the test:
- You consult with our specialist gynecologist
- Your venous blood sample is taken
The sample is sent for testing
- The result is ready in 10-14 days
The results represent an assessment of the risk of developing genetic disease of the fetus and are provided as:
- Low risk – means a low probability of the presence of these chromosomal defects and their manifestation, without guaranteeing a normal chromosome set or a healthy baby;
- High risk – means that the probability of the fetus having these chromosomal abnormalities is high, without proving the presence of these defects. A similar result requires a prenatal diagnostic test (amniocentesis or chorionic villus sampling);
In the case of a sample of poor quality or insufficient amount of fetal DNA for analysis, a second sample is required from the mother to repeat the test, completely free of charge.