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Prenatal diagnostics

 

 

1.        Ultrasonography

 

     At our workplace, two modern ultrasonographic Toshiba apparatuses are used: EccoSee and the Power Vision 6000 highest model with  three-dimensional imaging. Both apparatuses work in pulse as well as colored dopplerometric mode in the power Doppler imaging system. Both of them have the built-in program for goal-directed fetal echocardiography.

 

1st  trimester screening – our focus is on monitoring so called ultrasonographic markers of  the 1st trimester fetus, measuring occiput effusion (NT) and demonstration of nasal bonelet (NB) as most sensitive markers of Down syndrome detection and many other fetus pathological conditions.

2nd trimester screening – most important period with greatest effectiveness. Monitoring specific markers of fetus chromosome aberrations and differential diagnostics of inborn development defects. Dopplerometry of umbilical cord or other fetus vasa, routine examination of fetus heart.

3rd trimester screening – with focus on fetus growth, monitoring possible intrauterine fetus growth retardation and placental functions, routine Dopplerometry, determination of anticipated fetus weight, detection of inborn fetus development defects that are developing only at this stage of pregnancy.

 

2.        Fetus MR

 

     Since the beginning of the year 2003, when the Clinic of Radiology, University Hospital, Olomouc, obtained most modern apparatus for measuring magnetic resonance, we have been able to utilize this non-invasive fetus examination. This has been applied especially to CNS defects and fissural neural tube defects, hydrops and unclear pathological structures in cavities or possibly congenital fetus infections. Evaluation is provided by MUDr. David Horák, a specialist.

 

3.        FECHO – fetal echocardiographic fetus examination

 

     MUDr. Lubomír Doubrava specializes on neonatal and fetal echocardiography. Because of the quality of both ultrasound apparatuses used at the Institute of Medical Genetics and Fetal Medicine, University Hospital, Olomouc, we carry out detail fetal echocardiographic fetus examinations especially in female patients with positive VVV heart anamnesis, in suspected pathological findings and offer also screening heart examinations in the 20th week of gravidity.

 

4.        Biochemical screening

 

     In co-operation with the Clinic of Nuclear Medicine, we examine all biochemical screening markers. The results are processed at our workplace using ALFA and OSG Integrator ( 1st trimester combined test). All results are evaluated by a geneticist, who, based on these results, proposes next immediate prenatal examination.

 

1st  trimester screening – we are introducing a new PAPP-A and free hCG-beta examination in the 9th –13th week of gravidity.

2nd trimester screening – standard AFP, hCG and mE3 examination in the 15th – 13th week of gravidity: Down syndrome diagnostics, Edwards syndrome, examination of fissured defects of neural tube and front abdominal wall not covered by skin, anencephaly and Smith-Lemli-Opitz syndrome.

 

5.        Combined test

 

     It is a novelty, which is being introduced at our workplace. The combined text integrates the Down syndrome results in the 1st and 2nd trimester and achieves this way the best coverage. Its relative disadvantage is a longer time period necessary for results evaluation.

     Our workplace can offer the 1st trimester Down syndrome examination in the following algorithm:

 1.       UZ fetus examination in the 12th week of gravidity with NT measurements and expressed in MoM.

 2.       Venepuncture with establishment of free hCG-beta and PAPP values with recalculation to MoM.

 3.       Integration of NT screening results and biochemical markers into a combined test and determination of Down syndrome risk     for fetus.

 4.       Programming of fetus karyotyping (CVS, AC) in case of a positive test result.

1st trimester examination is followed by the standard 2nd trimester biochemical screening.