- Prenatal Screening
- Harmony Prenatal Test
Analyses on an empty stomach
For the great majority of the analyses it is not necessary to have fasted. The table below indicates the exceptions. If your prescription includes one of the analyses in this table, you should ensure the indicated hours of fasting. If two or more analyses are in this table, you should fast for the highest number of hours indicated.
Analyses with booking
The correct preparation for the collection of samples is essential for the quality of the result of your tests. Apart from the well-known fasting, some tests require specific diets at home before the sample collection. Please check whether your prescription indicates any of the following tests and contact the Laboratory to learn about how to prepare yourself suitably for the sample collection.
Some of the more frequent tests which require prior preparation to sample collection:
- Urine II, Summary Urine Test
- Urine, Bacteriological Test, Urine Culture
- Faecal occult blood, detection
- 24-hour urine
AREAS oF SPECIALISATION
Immunopathology and Autoimmunity Laboratory
The mission of the Immunopathology and Autoimmunity Laboratory is the study and detection of antibody markers of systemic autoimmune diseases that are organ specific, in order to support clinical diagnosis as well as to assist the prognosis and therapeutic monitoring of these same pathologies.
This is a specialised laboratory in "gold standard" techniques, complying with recommendations, algorithms and updated guidelines, and which provides our colleagues with results of high positive predictive value. We position ourselves as laboratory medicine consultants for our clinical colleagues, offering our know-how in this area so as to assure the early identification of autoimmune pathologies.
Biology and Molecular Pathology Laboratory
Excellent and Personalised Medicine necessarily requires a first line laboratory which responds in due time and is highly specific to the patient's needs. This laboratory uses the most recent technologies linked to genomics and pharmacogenomics which enable the detection, quantification and genotyping of the DNA of various viruses. Detection of alteration of DNA is conducted, which determines the genetic expression of some tumours, as well as other investigations that determine individualised therapeutic decisions along the lines of Personalised Medicine, the medicine of the future which is just beginning.
Chemical Pathology Laboratory
The Chemical Pathology Laboratory is responsible for the vast majority of the laboratory parameters which enable the diagnosis or monitoring of numerous pathologies.
Covering functional areas such as: Biochemistry, Immunoserology, Allergology, Endocrinology and study of tumour biomarkers , the determinations made in the Chemical Pathology Laboratory enable identifying conditions such as, for example, diabetes mellitus, risk factors for coronary diseases, hepatic pathology, renal disorders, allergy, among many others.
Using the most advanced technology and methodologies executed in accordance with the highest quality standards, we guarantee our results.
The Chemical Pathology Laboratory emerges as a differentiating unit in areas such as: study of lipid profile and dyslipidemia, study of risk factors for coronary disease, allergologic study, and more recently, study of the anti-aging profile.
Haematology and Haemostasis Laboratory
Designed for the screening and diagnosis of haematological diseases and conditions related to erythrocytes (namely deficiency-related anaemia, hemolytic anaemia and haemoglobinopathies), leukocytes and haemostasis (namely quantitative and qualitative alterations of the platelets, congenital and acquired alterations of coagulation thromboembolism and haemorrhagic disease).
Clinical Microbiology, Mycobacteriology and Parasitology Laboratory
The Microbiology Laboratory performs a fundamental role in the diagnosis and corresponding treatment of infectious disease.
With a view to attaining this objective, the Microbiology Laboratory aims to combine the need for rapid and assertive response with the rigorous standards of the technical guidelines used, from the collection of samples through to the identification and study of the resistance of infectious agents to antibiotics.
For this purpose, the Microbiology Laboratory develops two essential areas, which add to General Bacteriology: Mycobacteriology and Parasitology.
In the area of Mycobacteriology, the laboratory focuses on strict compliance with laboratory standards concerning: recovery and identification of mycobacterium; as well as the use of rapid methods to establish its diagnosis.
In the area of Parasitology, the Microbiology Laboratory has been designed to assure the identification and differentiation of parasites, both in intestinal samples and samples of extraintestinal origin, in particular intestinal protozoa, nematodes, cestodes, trematodes and blood parasites.
During its activity, the Microbiology Laboratory has a solid, experienced and highly specialised medical team, as well as the most sophisticated technological means on the market.
Prenatal Diagnosis Unit
This unit is certified by the Foetal Medicine Foundation, and is responsible for the execution of the biochemical parameters, free beta HCG, PAPP-A, PlGF and AFP, implemented pursuant to the highest quality standards, thus assuring the reliability of the biochemical results and enabling the preparation of 1st quarter and 2nd quarter prenatal combined screening with high detection rates and low number of false positive results.
The laboratory has been designed to respond to the certified ultrasonography doctors merely by sending them biochemical results, which enables them to enter the data into certified software and indicate any risk to the pregnant woman at the time of the sonogram, or on the other hand, allow the laboratory to execute the combined risks and provide the data to the Obstetric doctors.
Haemato-Oncology Laboratory Unit
Directed towards integrated diagnosis (morphology of peripheral blood and bone marrow, immunophenotyping and genetics) of haematologic neoplasms (namely myeloproliferative neoplasms, myelodysplastic syndromes, myeloproliferative/myelodysplastic neoplasms, mature lymphoid cell neoplasms and acute leukaemia).
Prenatal Diagnosis Unit
Prenatal Screening – 1st Quarter Combined Screening
The Germano de Sousa Laboratory Medicine Centre is certified by the Foetal Medicine Foundation (FMF) for Prenatal Diagnosis and 1st Quarter Combined Screening, thus being a Reference Laboratory of the FMF.
The Prenatal Diagnosis – 1st Quarter Combined Screening refers to early screening aimed at assessing the level of risk of the existence in the foetus of Trisomy 21 (Down's Syndrome) Trisomy 18 (Edward's Syndrome) and Trisomy 13 (Patau's Syndrome).
It enables detection of 97% of cases, with false positive percentages of 3%, which is extremely important to be taken into account by couples when deciding, or not, to conduct invasive testing.
This screening combines the information of the echography test and the biochemical test.
The biochemical test permits the determination of two substances present in maternal blood, PAPP-A (Pregnancy-Associated Plasma Protein A) and free ß-HCG (free b-subunit of Human Chorionic Gonadotropin), both with great sensitivity and specificity in detection of the aforesaid anomalies.
The echograph test enables accurate determination of gestational age through cranialcaudal length (CCC), permits accurate measurement of the subcutaneous fluid-filled space between the back of the foetal neck and the overlying skin (nuchal translucency) and assess the presence of the Nasal Bone.
The 1st Quarter Prenatal Combined Screening should be carried out between the 11th week and 13th week + 6 days of gestation.
According to the Foetal Medicine Foundation (FMF), which promotes research in the area of foetal medicine, the 1st quarter combined screening has a detection rate of 97% (together with the sonogram), with 3% of false positive results.
Currently, there is another test, the Harmony™ Prenatal Test which represents the greatest advance in the area of non-invasive prenatal screening tests, for the detection of the three main trisomies (T21, 18, 13) and aneuploidies related to the sexual chromosomes (X and Y).
This test is conducted in a SIMPLE and SAFE manner, on a maternal peripheral blood sample, and enables obtaining results with a high degree of ACCURACY.
The Harmony™ Prenatal Test uses a technology (DANSR™) which analyses fragments of foetal cell-free DNA in circulation in the maternal blood, where it is this direct analysis feature that confers the test its greater accuracy and reliability as a screening test.
The test is endorsed by the Foetal Medicine Foundation (U.K.), which is highest reference at a worldwide level in the area of foetal maternal detection and medicine, directed and coordinated by Prof. K. Nicolaides.
Therefore, the Germano de Sousa Laboratory Medicine Centre can already provide all pregnant women, as of 10 weeks of pregnancy, the non-invasive prenatal screening test, which shows the highest detection rates (> 99%) for the main trisomies and a false positive rate below 0.1% for trisomies 21, 18 and 13.
Harmony™ Prenatal Test with analysis of X and Y chromosomes
It is with great enthusiasm that we disclose that the analysis of the X chromosome, as well as the analysis of the Y chromosome is available and can be offered to all single pregnancies occurred naturally or through IVF (including donation of own or other oocytes).
HARMONY™ PRENATAL TEST WITH X, Y
- The optional test shall be referred to as "Harmony with X, Y " as an alternative to the standard Harmony prenatal test.
- This new option will assess the number of copies of both the X and Y chromosomes. This enables obtaining information about the foetal gender, as well as assessing the risk of aneuploidies related to the sexual chromosomes (XO, XXY, XXX, XYY, XXYY)**.
** This information can be obtained in the Harmony™ Prenatal Test with option “Y”
The performance of the test is as follows:
- The detection rate of the foetal gender is > 99%.
- The detection rate of aneuploidies related to the sexual chromosomes varies according to the condition.
(It should be noted that performance has not yet been assessed in mosaicism or partial aneuploidies, and is expected to be less robust in these situations.)
The “Harmony with X, Y” test is optional. In order for the analysis of the X and Y chromosomes to be conducted, this should be marked on the request form.
In less than 0.5% of cases, it is not possible to obtain a result for the analysis of the X and Y chromosomes. There are many possible reasons for this. The technical reasons include a high variation in the sequencing count. The biological reasons can include mosaicism (maternal, foetal or placentary), abortion of one of the twins, or variant of the number of copies. In the case of a biological cause, such as maternal mosaicism, it is not expected that a result will be obtained after repetition analysis.
As occurs with the rest of the conditions included in the Harmony test, the X,Y test is not diagnostic of aneuploidy. All the results indicating a high risk of aneuploidy of the X,Y should include a recommendation of genetic counselling and additional invasive tests (BVC/amniocentesis).
The Harmony™ Prenatal Test has also been validated for pregnancies of monchorionic twins
Limitations of the test for pregnancies of monchorionic twins include:
- The result for T21, T18 and T13 is the same result for both foetuses, in other words, the test results, whether showing low risk or high risk, are for both foetuses;
- Only the standard Harmony test can be requested (without X, Y);
- It cannot be conducted for multiple pregnancies with more than 2 foetuses.
- Centre of Excellence
- Prenatal Diagnosis – 1st Quarter Combined Screening /
- Non-Invasive Prenatal Test (NIPT)
- Oncology (HPV/PCA3)
- Dyslipidemia Studies
- Autoimmune Diseases
- Immunoallergology (RAST/ISAC)
- Respiratory viruses
- Laboratory study of prostate diseases