Author: anamarija.trenchevska@avicena.com.mk

МMOLECULAR RESPIRATORY PANELS FOR ACCURATE, QUICK AND PRECISE DETECTION OF THE 40 PATHOGENS AT ONCE!

Respiratory infections are one of the most common infections. There are number of pathogens that can cause various forms of diseases, from mild to severe pneumonia. In many cases it is difficult to recognise and identify the exact trigger of a respiratory infection, especially when there are mixed infections.

For a proper treatment of the disease, it’s always very important to know the real cause of the disease in order to act in a timely and targeted manner.

Beside standard microbiological tests, in Avicena Laboratory offers the most sophisticated molecular respiratory panels, which precisely identify genetic sequences from one of the bellow mentioned pathogens, from one sample. It is a highly sensitive molecular Real-Time PCR method that is superior to other methods and techniques.

Remove all doubts with just one test!

• The test can be done immediately, after the first symptoms occur
• Complete detection and identification of all known pathogens, for appropriate therapy
• Antibiotic or any other therapy does not affect the results
• The most appropriate treatment
• It reduces the duration of illness
• No risk of resistance to the given medication
• It prevents the development of complications 
• Save time and money

There are two available panels for the simultaneous detection of 26 and 40 respiratory pathogens with Real-Time PCR method:

RESPIRATORY PANEL 26

1. Influenza A virus (Flu A) 
2. Influenza A-H1 (Flu A-H1)
3. Influenza A-H1pdm09 (Flu A-H1pdm09) 
4. Influenza A-H3 (Flu A-H3) 
5. Influenza B virus (Flu B) 
6. Respiratory syncytial virus A (RSV A) 
7. Respiratory syncytial virus B (RSV B)
8. Adenovirus (AdV)
9. Enterovirus (HEV)
10. Metapneumovirus (MPV)   
11. Parainfluenza virus 1 (PIV 1)  
12.  Parainfluenza virus 2 (PIV 2)   
13. Parainfluenza virus 3 (PIV 3)  
14. Parainfluenza virus 4 (PIV 4)  
15. Bocavirus 1/2/3/4 (HBoV)
16. Coronavirus 229E (229E)   
17. Coronavirus NL63 (NL63)   
18. Coronavirus OC43 (OC43)   
19. Human rhinovirus (HRV)   
20. Bordetella parapertussis (BPP)   
21. Bordetella pertussis (BP)   
22. Chlamydophila pneumoniae (CP)   
23. Haemophilus influenzae (HI)   
24. Legionella pneumophila (LP)
25. Mycoplasma pneumoniae (MP)   
26. Streptococcus pneumoniae (SP)

SAMPLE:  throat swab / nasal sputum / bronchoalveolar lavage

 RESPIRATORY PANEL 40

SPECIMEN: 2 nasal swabs and 1 throat swab

The spectrum of pathogens that can cause gastrointestinal infections- bacteria, parasites and viruses, requires an assortment of classical detection methods in order to target and identify the causative agent. Many of these classical methods suffer from variable specifity and sensitivity, and in cases, when patients have symptoms and signs that are not specific enough, but are indicative of a disease, the use of syndromic testing eliminates the guess work and facilitate clinical decision making.

Multiple Real-time PCR test allow for several of the most common gastrointestinal pathogens to be tested at once, while providing excellent analytical specificity and sensitivity.

UNDERSTANDING ETIOLOGY IS THE KEY FOR A SUCCESS

►             ОNE SAMPLE, FOR MANY PATHOGENS

►             ETIOLOGICAL DIAGNOSIS ENABLES APPROPRIATE TREATMENT

►             PREVENTIVE MEASURES FOR INFECTION CONTROL

►             SAVES TIME AND MONEY

PATHOGEN	METHOD
COMPLETE GASTROINTESTINAL PANEL FOR DETECTION OF 17 GASTROINTESTINAL PATHOGENS ( 6 VIRUSES, 9 BACTERIA, 2 FUNGI)	Multiplex         Real-Time PCR Му
PANEL VOR VIRAL GASTROINTESTINAL PATHOGENS: NOROVIRUS G I, NOROVIRUS G II, ROTAVIRUS, ADENOVIRUS, ASTROVIRUS, SAPOVIRUS	MultiplexReal-Time PCR
ROTAVIRUS IN FECES	Immunochromatography
ROTA + ADENOVIRUS IN FECES	Immunochromatography
NOROVIRUS IN FECES	Immunochromatography
NOROVIRUS + ROTAVIRUS + ADENOVIRUS IN FECES	Immunochromatography
COPROCULTURE	Culture
RECTAL SWAB	Culture
FECES/RECTAL SWAB FOR CANDIDA	Culture
CLOSTRIDIUM DIFFICILE – TOXIN А and Б, IN FECES	Immunochromatography
GIARDIA LAMBLIA, CRYPTOSPORIDIUM IN FECES	Immunochromatography
CAMPYLOBACTER IN FECES	Immunochromatography

CELLOPHANE TAPE TEST	Мicroscopy
Parasites and protozoa in feces	Microscopy
Helicobacter pylori IgA (serum)	CLIA
Helicobacter pylori IgG (serum)	CLIA
Helicobacter pylori  antigen in feces	Immunochromatography

We inform you that the Avicena Laboratory has a complete menu of tests for detection of rash fever and vaccine-preventable diseases. All analyzes are performed using a chemiluminescence (CLIA) method that has high sensitivity and specificity and guarantees accurate and precise results.

Available tests at Avicena Laboratory:

Morbilli Virus

›          Morbilli Virus IgM                     

›          Morbilli Virus IgG                     

›          Morbilli Virus IgM+IgG           

Rubella

›          Rubella IgM                                

›          Rubella IgG                                

›          Rubella IgM+IgG                      

 Parotitis

›          Parotitis IgM                              

›          Parotitis IgG                              

›          Parotitis IgM+IgG                    

Varicella Zoster Virus

›          Varicella Zoster Virus IgG       

›          Varicella Zoster Virus IgM       

Parvovirus

›          Parvovirus IgM                        

Avicena Laboratory is the only one laboratory in the country that use unique lancets with the patented Comfort Zone Technology®.

Thеse lancets was designed to reduce pain for a more comfortable sampling experience. Independent clinical data* shows that these safety lancets with CZT® reduce pain, resulting in a more comfortable experience for the patient. CZT® is comprised of eight raised pressure points on the patient end of the safety lancet. This patented technology sends a signal of comfort to the brain, helping to eliminate the pain associated with the fingerstick.

The Unistik®3 range features an ergonomic design for complete confidence and control during the sampling procedure, and a permanently retractable needle to protect users against potential needlestick injury and cross contamination. This safety lancet also features an indicator for accurate positioning, a lock-out indicator that prevents and identifies attempts at re-use, and laser-etched lot numbers on individual devices for enhanced traceability.

Check out the video below and learn more about these unique lanterns:

What are tumor markers?

Tumor markers are substances (proteins, enzymes, hormones etc.) that are secreted in the body аs a response of a benign or malignant occurrences. The measurement and identification of the tumor markers is important for diagnosis and for monitoring of the progress, course of the disease and the success of the treatment..

What is the meaning of the values of tumor markers?

During chemotherapy, hormone and radiation therapy, the change of the values of the markers in the blood can be used to evaluate the effectiveness of the therapy. If the values are declining, it’s an indication that there is a respond to the treatment. Otherwise, elevated tumor markers in medical examinations suggest recurrent tumor or presence of metastasis (even six months earlier than the X-ray or ultrasound examination). Therefore, the therapeutic strategy should be changed.

Review on some specific tumor-markers:

AFP (α-fetoprotein)

The levels of alpha-fetoprotein in the serum serves as a marker for hepatocellular carcinoma and metastatic liver tumors, as well to assess the risk of birth defects (Neural tube defects, Down syndrome).

BR – MA (CA 15-3) (“Breast-cancer antigen”- 15-3)

This marker is the most important in the control of the disease in patients со with malignant neoplasm of the breast.The amount of the value of the marker largely depends on the disease activity and can be used in differential diagnostic purposes in diseases of the breast of women. Common determination of CA 15-3 and CEA reveals metastasis of breast cancer with 80% of confidence.

GI – MA (CA 19 – 9)

This marker has clinical utility mainly in tumors of the pancreas and biliary tract. Tumors that frequently can provide elevated values of CA 19-9 are: malignancies of the pancreas, cancer of the biliary tract, cancer of stomach and colon.

OM – MA ( CA 125)

CA 125 primarily has a value as tumor marker for detection of malignant neoplasms of the ovary. Other diseases that can provide elevated values of CA 125 are: liver cirrhosis, acute pancreatitis (inflammation of the pancreas), acute olecistitis (inflammation of the gallbladder) and other benign gynecological diseases or inflammations.

CA 72-4

Tumor marker for gastric cancer,with specificity higher than 95%. The values of this marker in serum coincide with the stage of the disease. The more advanced stage of the disease is, the higher serum values of CA 72-4 are.

S 100 протеин

S – 100 has a prognostic significance and diagnostic value in patients with malignant melanoma.

СЕА (carcino-embryonic antigen)

Non-specific tumor marker which is determined along with specific tumor markers for monitoring and prognosis, in patients with different types of cancers, particularly colorectal cancers. Determining the values of CEA plays has crucial role in neoplastic/colon cancer, where the levels of the values is directly dependent on the stage of the tumor

PAP (prostatic acid phosphatase) и PSA (prostate specific antigen)

PAP, along with PSA are markers for monitoring patients suffering from prostate cancer. For early detection of the prostate cancer despite clinical examination it’s important to identify markers that would prove the existence of the disease. Total PSA, acid phosphatase and PAP (prostatic acid phosphatase) are the most important markers for early detection of prostate cancer.

HE-4 (human epididymis protein 4) and HE-4 + CA-125 (ROMA INDEX)

HE-4 (human epididymis protein 4) is a serum biomarker whose concentration increases significantly in patients with epithelial ovarian cancer and has better sensitivity and specificity than the CA-125 marker. It is used as an aid in diagnosis, as well as monitoring the response to therapy in patients with ovarian cancer.

Combined with the CA-125 marker, the sensitivity and specificity of the CA-125 marker increased significantly

The combination of HE-4 + CA-125 (ROMA INDEX) is a new tool for differential diagnosis in determining whether the tumor mass in the small pelvis is benign or malignant, both in premenopausal and postmenopausal women, and provides stratification of the risk and direction for further treatment .

ROMA ALGORITHM for calculating the risk of epithelial ovarian cancer is used for stratification of patients into groups of low or high risk.

Women in the progenoma

ROMA> 12.5% = high risk of ovarian epithelial carcinoma

ROMA ≤ 12.5% = low risk of ovarian epithelial carcinoma

Postmenopausal women

ROMA> 14.3% = high risk of ovarian epithelial carcinoma

ROMA ≤ 14.3% = low risk of ovarian epithelial carcinoma

What is HPV?

HPV is the name of a group of viruses. There are more than 150 types of HPV (Human papillomavirus) that are sexually – transmitted, affecting reproductive organs in men and women. Some types of HPV (e.g type 6, type 11) cause changes which are called genital warts, while other types, which are clasified as high-risk types (e.g type 16, type 18, etc.) can cause CIN changes (abnormal growth cells) that lead to cervical cancer.

How can I get HPV?

HPV is transmitted through genital contact, most commonly through vaginal or anal sexual intercourse. Most people don’t know that they have the virus or that they transfer it to the partner. Therefore, it is usually impossible to know who transferred the virus and when the infection has occurred.

Is there another way of getting HPV?

There are many misconceptions about how you can get HPV. However, it is important to know that condoms do not provide 100% protection against HPV. Because the virus is found in the skin around the genitals, the virus can easily pass from the genital area of the men in the women’s vagina, vulva or anus.

How HPV causes cancer of the cervix?

HPV virus causes abnormal growth of cells of the cervix. In many cases, HPV disappears itself. However, when the infection with HPV takes some time, the abnormal cells can develop cancer (cancer of the cervix or of the other body parts).

Can cervical cancer be prevented?

Yes. There are tests which can detect early signs, even before symptoms develop. In this way, the problem is found and resolved before the cancer develops. Those tests are PAP-test and HPV-test.

What is the difference between PAP-test and HPV-test?

Both tests allow screening for the cervical cancer. The difference is that they detect different things. The PAP-test (PAP smear) is used to look for changes in the cells form the cervix or vagina that may lead to cancer. The HPV-test detects the HPV virus that causes these changes.

Can I get cervical cancer if I have HPV?

Those women who have HPV will not develop cervical cancer, if they follow the advice and instructions from their gynecologists for appropriate testing and treatment. If you have HPV, your gynecologist will recommend you more frequent check-ups and tests in order to find any changes that could be treated properly early. Therefore, follow the advice of your gynecologists.

If I have HPV, can I stay pregnant and give birth to a healthy baby?

The presence of HPV virus doesn’t reduce the chance of getting pregnant. The type of HPV you have, should not affect the health of the unborn baby. However, if you need treatment for abnormal cells on the cervix (caused by HPV), the treatment itself can affect the chances of getting pregnant. Consult your gynecologists about this.

Where can I make a HPV – test?

The proper diagnosis of HPV is extremely important and is crucial for the further treatment of the patient.

In Avicena Laboratory, you can make Anyplex HPV 28 test – unique multiplex RT-PCR test, which allows simultaneous detection, differentiation and quantification of 28 different HPV genotypes (19 high risk and 9 low risk), responsible for cervical cancer and / or sexual transmitted infections.

19 high-risk HPV genotypes: 16,18,26,31,33,35,39,45,51,52,53,56,58,59,66,68,69,73,82

9 low-risk HPV genotypes: 6,11,40,42,43,44,54,61,70

Thanks to the unique DPO® and TOCE® technologies, this test is performed on RT-PCR instruments for high precision detection, differentiation and quantification of high and low risk HPV infections.

The test provides all the necessary information (genotype, co-infection, quantitative result) in relation to the infection, to facilitate the clinical follow-up of the patient.

The modern preventive medicine aims to make screening of the population in order to discover those with risk to develop a certain disease, in other words, to find those where the process has been already started, but has not been accompanied with symptoms. Today, the risk of occurrence of cardiovascular events can be interpreted as a result of many laboratory parameters which allow taking preventive actions on time.

What are cardiac markers?

Cardiac markers also known as cardiac biomarkers, are substances that are released into the blood and whose concentration is measured in order to assess the proper function of the heart.

Why are they measured?

The measurement of cardiac markers helps in risk assessment, diagnosis, monitoring and dealing with heart problems, enabling rapid initiation of preventive and therapeutic actions.

Avicena Laboratory offers modern high-sensitive tests form Siemens Healthcare Diagnostics inconcordance with the ESC (European Society of Cardiology) and ACC (American College of Cardiology Foundation) for determination of the concentration of all important cardiac markers inthe blood.

High sensitive C – reactive protein (hsCRP)

hsCRP is an acute phase protein that occurs in the circulation in response to inflammatory cytokines (such as interleukin-6) and a marker of systemic inflammation. It is an important indicator of inflammation, necrosis or tissue trauma.

► hsCRP is a predictor for the occurrence of cardiovascular disorder in adults with no previous history of disease existence.

► hsCRP enhances risk assessment and response to therapy in the primary prevention of cardiovascular disease.

Тhe reference values of plasma hsCRP are less than 3,0 mg/L.

Тhe hsCRP test performs quantitative analysis of very low levels of CRP in the blood. Classic CRP tests can’t detect the level of CRP that is associated with the development of cardio-vascular diseases. The hsCRP test can detect these low concentrations. It is a test which is increasingly used as a marker for assessing the risk of cardiovascular diseases, as well as prognostic marker in an existing heart diseases.

Along with the evaluation of lipid status and scoring systems for determining risk, hsCRP test is necessary in evaluating the risk for cardiovascular diseases.

Creatinin Kinase – CK

CK-MB

In clinical practice, the quantitative determination of CK in serum is used as a marker for myocardial infarction and skeletal muscles disease.

The concentration of CK-MB as a marker of early myocardial damage grows 2-6 hours after the attack, and can goes up to 2-3 days after a heart attack.

Reasons for increased values:

1. Miocardial Infarction

2. Miocarditis

3. Pericarditis

4. Muscular dystrophy

5. Heart surgery

6. Strenuous exersise – traning

7. Mixed connective tissue disease

8. Cardiomyopathy

9. Hypothermia

Reference values: up to 5.3 IU/L

Troponin

Quantitative determination of troponin I in serum is used as a marker of myocardial necrosis and acute myocardial infarction, for identification of high risk patients and monitoring of the condition, confirms the need for more aggressive treatment, for distinguishing angina pectoris and myocardial infarction in patients with chest pain.

During myocardial infarction, the cardiac troponin remain elevated 10-14 days after cardiac damage.

Troponin levels in the blood remain elevated longer than levels of a CK-MB or MYO, allowing an extended diagnostic window for myocardial infarction.

Reference values: less than 1,0 ng/ml

Cholesterol is a steroid compound which forms with the breakdown of the fat in our body. Since cholesterol takes part in the formation of the bile acid, sex hormones and hormones of the adrenal gland, it is essential for the normal functioning of the body.

Cholesterol is carried in the blood by proteins in the plasma, building a biochemical complex called lipoprotein.

There are two types of lipoproteins:

• low-density lipoprotein i.e. “bad” cholesterol (LDL), lipoproteins which carry high concentration of cholesterol; and

• „good“cholesterol (HDL) – lipoproteins which carry low concentration of cholesterol.

LDL carries cholesterol in the blood vessels, forming an atheromatous plaques within the arteries that cause narrowing of the lumen of the blood vessels, thus leading to heart, brain and other diseases.

HDL, in turn, improves the elasticity of the blood vessels, hence its deficiency in the body makes blood vessels non-elastic and stiff. Almost two-thirds of the cholesterol is synthesized in the liver (800-900 mg) and only 1/3 is directly ingested through food.

Atherosclerosis

Atherosclerosis is a process of accumulation of fat on the inner walls of large and medium-sized arteries. At the beginning, they are small crystals of cholesterol, which gradually create deposits (plaque) that narrow the lumen of the blood vessel. Subsequently, scarring and hardening of the wall of blood vessels occurs, making them more prone to rupture. These changes of the inside of the blood vessel lead to blood clots or lead to a condition known as thrombosis.

There are several causes of atherosclerosis, but increased concentration of cholesterol in the form of low density lipoprotein (LDL) is the most common one. Factors leading to an increased risk of developing atherosclerosis fall into two groups: – Modifying factors- smoking, physical activity, diet, etc.- Non-modifying factors– gender, age, genetic factors -Other factors – diabetes, obesity, elevated levels of LDL, homocysteine, triglycerides, uric acid and other substances in the blood, hyperthyroidism, and other conditions.

What is considered a high blood cholesterol level?

For healthy people, with no family history of heart disease, the level of total cholesterol in the blood should not be higher than 5.2 mmol/l, whereas HDL should be higher than 1 mmol/l and LDL less than 3 mmol/l. Any cholesterol level over these reference values (especially LDL cholesterol) increases the risk of heart disease.

Do men and women have the same risk of high cholesterol?

Can increased levels of cholesterol cause a heart attack? The increased level of cholesterol is the most common cause of heart attack. On its own, increased cholesterol levels do not cause symptoms, but it is the major risk factor for atherosclerosis, which in turn can cause a heart attack. Therefore, in people with heart disease, the level of LDL cholesterol in the blood must not exceed 2.5 mmol/l.

Is increased body weight always a sign of increased level of cholesterol in the blood?

The increased level of cholesterol in the blood is not always related to increased body weight. It is a big misconception that only people with increased body weight have increased cholesterol in the blood. Many people have high cholesterol as a result of genetic-hereditary predisposition, although they might have normal weight or even be thin. However, most people with increased body weight have higher levels of cholesterol. About half of the patients have elevated blood cholesterol levels as a result of inadequate diet, and in the other half, the cause is their genetic predisposition. All products of animal origin: eggs (yolk), liver, brain, butter, sour cream, red meat, cured meat products, and semi fat cheeses contain saturated fatty acids, which increase the level of LDL cholesterol in the blood. Therefore, a healthy diet with fresh fruits and vegetables, regular physical activity, terminating the smoking habit, and stress reduction are essential factors in maintaining normal levels of blood cholesterol.

Blood is a tissue composed of three types of cells – erythrocytes (red blood cells), leukocytes (white blood cells) and thrombocytes (platelets). Erythrocytes contain red and iron rich protein – hemoglobin (Hb), which carries oxygen from the lungs to all the muscles and organs in our body. Normal life and normal functioning is impossible without oxygen.

Anemia is a condition of a red blood cells deficiency (or lack of hemoglobin). In this case, a small number of erythrocytes contain low levels of hemoglobin, which results in decreasing of oxygen transported to organs such as the brain, heart, and muscles. Therefore, when one is anemic he/she displays signs of mental and physical weakness. When the number of erythrocytes is reduced the heart works faster in order to compensate for the lack of oxygen, i.e. increased blood flow compensates for the lack of oxygen in the erythrocytes depleted blood.

Possible causes:

›          Blood loss, either as a result of menstrual cycle or various kidney diseases, joints, blood-forming organs, parasitic infections, and etc.

›          Medication side effects.

›          Inadequate nutrition and lack of vitamins, iron, ect.

Anemia is sometimes difficult to diagnose, because the early symptoms are too mild. As a result of that, it is easily confused with symptoms of other diseases or as a side effect of some medication. Anemia can cause severe fatigue to the point that even the simplest daily activities can barely be performed.

Symptoms:

►     Fatigue – sleepiness

►     Exhaustion – tiring quickly

►     Dizziness and lightheadedness

►     Pale skin and mucous membranes (lips, gums, and conjunctivae), nails, and palms

►     Rapid heartbeat – tachycardia

►     Feeling cold, especially in the extremities

►     Depression

►     Low sex drive

►     Sleep disorder

►     Decreased appetite

Diagnosis

Physicians diagnose anemia through a conversation with the patient about his/hers symptoms (medical history/anamnesis), patient’s examination, and through blood tests. Blood tests nowadays are performed by modern automated analyzers that provide information on the number of erythrocytes (RBC), leukocytes (WBC) – with a differential image of individual fractions of leukocytes, additionally, the number of platelets (PLT), the level of hemoglobin, (Hb), and hematocrit (Hct).

RBC (red blood cells) – is the number of erythrocytes in the blood. Hemoglobin marked with acronym Hb, is found in the erythrocytes and it participates in the transfer of oxygen in the body. Your level of hemoglobin is actually the specified amount of this protein in your blood. Hematocrit or Hct, is the percentage of the red blood cells in the bloodstream. Anemia is diagnosed when the level of Hb and Hct falls below normal values, which results in disruption of the normal function of the organs and the body’s systems, manifested through the abovementioned symptoms.

Treatment

If anemia is left untreated, the condition can become serious. Aside from that, the low levels of erythrocytes can lead to additional health problems, such as: anemia could lead to work overload of the heart and consequently heart problems, caused by overcompensation for the low level of oxygen in the tissues. Moreover, anemia can impede the mental processes. When the brain does not receive a sufficient amount of oxygen, difficulties in learning, memorizing, and later on in writing, reading and performing the everyday tasks could arise. In case anemia is long lasting or its symptoms are worsening, it could seriously endanger your health.

The approaches of anemia treatment are different and they depend on the causes of the anemia. Therefore, after you have been diagnosed with anemia, the most important thing is to determine its cause. That is possible with the expert help of a medical specialist, who will determine the cause of the anemia and will decide on a treatment, such as changing dietary habits or prescribing the right medication. It is not recommended to threat anemia on your own, i.e. without a doctor’s supervision.

Manufacturer Siemens Healthcare Diagnostics

Why is prenatal screening performed?

Prenatal screening enables all pregnant women of any age and without any risk or pain, to find out more about the health of their unborn baby. The prenatal screening consists of a simple vein blood draw and a routine ultrasound examination at the gynecologist. Prenatal screening tests are a group of tests that give information to the doctor about the condition of the pregnant woman and her baby. These tests are quick, simple and highly specific with very high percentage of accuracy. It helps in identifying those pregnant women, out of the general population, who have an increased risk of delivering baby with defects.

What does PRISCA stand for?

PRISCA software (Prenatal RISk CAlculation software) includes measuring of specific markers that circulate in the blood of the mother and are directly related to the development and well-being of the fetus. The obtained values are combined along with other important parameters, such as: the age and health of the patient, as well as parameters of the fetus obtained by ultrasound (gynecological ultrasonography). Of no less importance is any other information gathered from the patient’s medical history, pregnancy, body weight, twin pregnancy, diabetes, and so on. After the software program calculates all the data, we get the final result, which indicates the risk of the fetus having one of the following abnormalities: Down syndrome, Edwards syndrome, and neural tube defect.

Down syndrome (trisomy 21) is a condition in which the fetus has excess genetic material, i.e. one more copy of the chromosome No. 21.This is the most common cause of mental retardation and it represents the most common chromosomal abnormality, which occurs with a frequency of 1 in 700-800 births. Although this syndrome is more common in women over 35 years of age, most babies with Down syndrome are born to mothers under 35 years. Infants with this disorder have a different physical appearance – broad face with slanted eyes, small ears with hearing impairment, short stature, mental retardation and often congenital heart defects, deformities of the gastrointestinal tract, etc.

Remember: positive screening test is not a final diagnosis; it just means that further more invasive tests are needed in order to determine whether your baby has any of the following conditions.

Which stage of pregnancy is best for conducting these tests for early detection of possible fetus defects?

The assessment of possible risks can be done very early, in the 10th to13th gestational week of the pregnancy. However, PRISCA can be performed up to the 22th week of the pregnancy.

What is the accuracy of the diagnostic procedures for detecting fetal abnormalities?

The percentage of detection of high-risk pregnancies, using this combination of laboratory marker-tests and ultrasound measures is up to 95%. However, a definitive confirmation is obtained only by invasive diagnostic procedures (amniocentesis or chorionic biopsy)

Is there a risk of causing unwanted abortion during the procedure?

Due to the fact that the entire procedure is safe, simple and inexpensive, prenatal screenings arerecommended for every pregnant woman*

(* Recommended by the American College of Obstetricians and Gynecologists, ACOG Practice Bulletin No. 77: Screening for Fetal Chromosomal Abnormalities. Obstetrics & Gynecology 2007; 109(1):217-228)