Karyotype is a set of chromosomes characteristic for each individual, existing in every karyotype in the organism. Fetal karyotype examination is based on determining the chromosome number and structure obtained from amniocytes using microscopic analysis method.

The examination allows for an unambiguous affirmation if the developing fetus is free from  genetic defects or for their affirmation and identification.

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Amniocentesis is an invasive examination based on abdominal centesis of  a pregnant woman under ultrasonograph supervision and amniotic fluid collection. Amniotic fluid examination allows to finally exclude (or confirm) the existence of fetal chromosomal abnormalities.

Fetal tissues coming from amniotic membrane, skin, urogenital and alimentary system are present in the collected fluid.

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The triple test is performed between the 14th and 20th week of pregnancy and is based on marking alfa - fetoprotein (AFP) in the mother’s blood, chorionic gonadotropin (HCG), and free estriol (fE3).  It is a screening test for Down, Edwards syndrome and central nervous system open defects (CUN) of fetus.

In Down syndrome diagnostics the sensitivity of the test and the proportion of false positive test results depends in greater amount on the pregnant woman’s age, than in the PAPPA test. Its sensitivity is 66% in the case of Down syndrome and 60% for Edwards syndrome. It means that due to the triple test we are able to detect a smaller number of actually sick children than in the PAPPA test (average fetus detection is 6 out of 10). Sensitivity of the test in detecting central nervous system open defects of fetus does not depend on the pregnant woman’s age.

A significant test dependence on the pregnant woman’s age  increases the number of false positive test results with the age of future mothers. It means that the “older” the future mother, more frequently she will receive a false result - i.e. suggesting fetus’s disease, when in reality it is healthy. The decisive examination in such cases is amniocentesis.

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Integrated test provides the highest fetal defects detection amounting to 90%. Simultaneously, it significantly reduces the need for amniocentesis to the necessary minimum.

Currently INTEGRATED TEST is an examination of the highest sensitivity of Down, Edwards syndrome detection as well as fetal central nervous system (CUN) defects. Its sensitivity of measuring nuchal translucency of fetus (NT) is 92%. It is an alternative to invasive diagnostics for women after the age of 35 and it limits the need for amniocentesis performance to the necessary minimum. It also an opportunity for young women, whose sensitivity to performed diagnostic tests is lower than 50%. Whilst conducting it we detect 90% of actual fetal diseases. It is designed for future mothers in every age, especially for women over the age of 35. Similarity, as well as double test (PAPPA) and triple, it is absolutely harmless to fetus and the mother.

What is Integrated Test based on?

Integrated Test is based on drawing the mother’s blood twice and evaluating the risk of giving birth to a child with Down syndrome, Edwards syndrome and open defect of the central nervous system. In order to increase its sensitivity, we additionally measure nuchal translucency of fetus (NT). We conduct it in two stages:
We conduct it in two stages:

STAGE I:
In the first trimester between 11th and 13th week:
We draw a blood sample from a women and perform PAPP-A test
We measure the fetal nuchal translucency (NT)

STAGE II
After the 14th  week we perform the triple test.
The final risk evaluation is the result of both tests – from the first and mid trimester. It is vital that risk evaluation wasn’t conducted separately in each test, but jointly, using specialized software designed for the integrated test. If biochemical and ultrasound data are not analyzed jointly with the usage of specialized software designed for the integrated test, but separately, a substantial amount of false positive results are obtained. (false positive means wrong result despite the lack of fetal disease).

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Prenatal USG is conducted in the 22nd week of pregnancy (between 21st and 24th week). It is suitable for patients of all ages.

It confirms fetal well–being after 20th week of pregnancy. It includes detailed examinations of all the organs (nervous system, heart, chest, abdominal cavity, limbs etc.). The examination is conducted with the use of abdominal probe, during the examination all the fetal organs are evaluated, in the search of specific symptoms confirming the risk of fetal disease.

Performance of the examination does not require any special preparation of the patient.

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Conducted between 11th and 14th week of pregnancy. It is suitable for patients of all ages. It detects early genetic defects of fetus. During the examination, the doctor determines nuchal translucency i.e. the size of fluid space in the area of subcutaneous tissue on the fetus’s neck. In majority of Down syndrome cases and other genetic defects this space is too wide and the presence of nasal bone (In majority of Down syndrome cases  nasal bone is short or does not exist at all). 

Other parameters attesting to fetal defects are examined as well. 

Doctor performing USG examination of the first trimester evaluates the risk of fetal disease on the basis of numerous parameters. If the risk of fetal disease evaluated  on the basis of these parameters is increased, the pregnant women is offered further examinations, e.g. amniocentesis, which excludes, or confirms fetal genetic defects. If the fetal disease is low, further examinations may not be necessary. Performance of the examination does not require any special preparation of the patient.

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PAPP-A test is performed between 11th and 13th week of pregnancy and is based on collecting a small amount of mother’s blood, in which you mark pregnancy- associated plasma protein A (PAPP-A) and free beta subunit of chorionic gonadotropin (fbeta-HCG), also marking fetal ultrasound parameters (nuchal translucency). The test is suitable for patients in every age.  Mainly, it serves a purpose of a screening test for Down, Edwards and Patau syndrome. It does not detect central nervous system disorders (CUN). The test result distinguishes a group of pregnant women with increased risk of fetal Down syndrome and to whom performance of diagnostic test – amniocentesis is recommended.

PAPP-A test is a prenatal examination with the highest sensitivity of Down syndrome detection.
Its sensitivity amounts to nearly 90% - which means that 9 out of 10 sick fetuses are detected.

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