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Genetics counseling Postnatal cytogenetics examination DNA examination FISH Prenatal diagnostics Other examinations Invasive
examinations and operations
Examination
offered in prenatal cytogenetic diagnostics Actions Institute workers Home |
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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.
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