Barbora Kubešová

Principles of screening  Simple, feasible  High sensitivity –detects disease, specifity – negative in unaffected individual  Ekonomically profitable, available  No negative side effects  Identification of the marker  Standartised examination  Quality control

Screening of aneuploidias in pregnancy  Marker of aneuplodia – different prevalence in an aneuploide and euploide population  Strenght of a marker increases with the increasing difference of prevalencies  Assessment if the likelihood of the presence of a marker is influenced by maternal or fetal factors  Assessement of several markers – ascertain their reciprocal dependency  Determination of a „cut off level“, efectivity of detection – detection rate, false positivity

Biochemical screening in pregnancy  10 wks PAPP A – pregnancy associated protein A HCG –free b unit of choriogonadotropin hormon  16 wks Double, triple test, quadruple test AFP – alfa-fetoprotein HCG – free b unit of choriogonadotropin hormon Estriol, Inhibin

First trimestr screening in pregnancy Combines ultrasound screening and examination of maternal serum markers Measurement NT provides information about other fetal affections than aneuploidias Assessment of fetal anatomy Assessment of gestational age - important for the management of pregnancy

Algorythme of I.trim. screening Each marker has it´s likelihood ratio LR /ratio of prevalence in an eu-aneuploide population/ Quantitative parametres – NT,fetal HR, FMF angle, biochemical analytes ….separation of the group with a high and low risk= cut off values Quantitative parametres– NB,DV,TR – soft markers, assessment of their presence or absence The pregnant pacient has an a priori risk – back ground risk – usually the age of the pregnant patient

Combined test in the I.trimestre  Assessment of risk of T21, T18, T13 Patient´s age PAPP-A, HCG blood screen in 9.-10wk– examined in a FMF – fetal medicine foundation certified laboratory US - 12wk assessment of CRL, NT – nuchal transluscency – certified sonographers Calculation on a FMF software Astraia Detection 90%, FP – false positive rate < 5%

Contingent test in I.trimestre c ombined test /age, biochemistry, NT / 1:50 +more 1:51 - 1:1000 less than 1:1000 NB,TR,DV,FA minor markery >1:100 < 1:100 CVS, AMC US 20wks Detection 95%, FP 2-3%

Screening of open defects of the neural tube Intracranial translucency IT Dg - NTD – open spinal dysrafismus /OSD

Screening of preeclampsie in I. trimestre Personal history BMI,age,etnicity, parity, smoking Pulsatility index a.uterina PAPP A - pregnancy asociated protein A Placental growth factor – PIGF

Screening of glucose intolerance in pregnancy  I.trimestre glycaemia less - 5,5mmol/l  From 24 wks- maximal effect of anti-insuline hormones  OGTT oral glucose tolerance test venous blood withdrawal < 5,5 mmol/l 75g glucose load glycaemia after 2 hrs values < 7,7 mmol/l Elevated values = gestational diabetes mellitus 3-6months after delivery check-up OGTT

Screening of infections – B group Streptococcus – Str. agalactiae  I.trimestre HIV, HBsAg,BWR  II.trimestru HBsAG  vaginal smear, rectum – detection of group B Gram positive Streptococcus  GBS neonatal infection within first 24hrs of life –acute sepsis, pneumonia, late form of meningitis, osteomyelitis  GBS+ mothers aplication of PNC G, cefalosporin i.v. at the beginning of labour, 4 hours apriori of ARM – artificial rupture of membranes

Screening of risk of premature delivery History Cervicometry – measurement of lenght of cervical canal, assessemnt of – funnelingu Values below 25mm higher risk

Screening in gynaecology Screening of cervical cancer Screening of endometrial cancer Screening of breast cancer - reimbursed by health insurance from the age of 45yrs, 2 yearly

Screening of cervical cancer  Onkological cytology Kolposkopia + HPV testation – prebioptic methods

Screening of endometrial cancer Transvaginal sonography Measurement of width of endometrium– different in pre-postmenopausal patients Assessment of echogenicity, borders –juntion zone

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