1. Barbora Kubešová

2. Sonoembryology 5 wks gestation - gestational sac 2-3mm – first visualisation Double decidual sac sign –hyperechogenic excentric localisation in the uterine cavity Growth 1mm/day GSD – gestational sac diameter Measurement in three dimensions – longitudinal, transversal, anterio-posterior Placement of cursors

3. Sonoembryologie 6 wks of gestation GSD 7-14mm YS Yolc sac diameter 3-4mm Growth of YS until 9th gest. Wk, diameter max. 6mm Visualisation of YS no later 5wks +4days Embryonal structures from half of 6th gest. wk Embryo – size 2mm detection of heart rate / 5wks +2 days/ 6-9wks – Greatest lenght GL nebo EES early embryonic size CRL – crown rump length 10wks 7wks – amnial cavity

4. US screeningu 11 - 13+6 75% recognisable defects 18 – 24 20% defects 30+ rare detection of congenital defects, aquired malformations, condition of fetus

5. Why 11+0 - 13+6  Overview of anatomy > 11+0  Osification of calva > 11tý  Structural embryonic changes transient character  Decreased sensitivity of NT measurement with increasing CRL  Assessment of gestational age by CRL is less exact after 13+6

6. Objectives 11+0 – 13+6 Assessement of gestational age – CRL 45-84mm Chorionicity Morfological examination of the fetus Screening of aneuploidias Assessment of risk of gestational compliactions /preeclampsia/

7. Measurement of CRL – crown rump lenght

8. Chorionicity - signs

9. 11 – 13+6 Skull, CNS Face, neck Spine Heart Chest Abdominal cavity Limbs

10. Skull, CNS

11. Acranius

12. Cystic hygroma XO

13. Atrioventricular canal

14. Physiological herniation

15. Omfalocoele

16. Megacystis U.b. > 7 mm (normal <6 mm) aneuploidie,T18 urethral obstruction

17. Markers of aneuploidias T21 Down, T18 Edward´s, T13 Patau´s syndrome XO Turner, triploidie NT (nuchal transluc.) NB (nasal bone) FMF (frontomaxil.angl.) TCV (tricuspid. valv.) DV (ductus venosus) FHR (fetal heart rate))

18. NT –nuchal translucency

19. Increased NT > 3,5 mm  Aneuploidias  Congenital defects genetic syndromes  Infections  Antenatal demise  Healthy fetuses

20. NB nasal bone FMF frontomaxillary facial angle Rasa Absence NB 65% T21 55% T18 34% T13 11% XO 76°-84° 69%T21 >85° T18,13

21. Doppler assessment of fetal circulation as a marker aneuploidie TCV – regurgitation – heart defects 56%T21 30-38% T18,13,XO DV Abnormal (A wave reversed) risk of heart defe 65 %T21 55%T13,T18 FHR

22. New markers Intracranial translucency IT Dg - NTD – neural tube defects

23. 18 – 23 wks Fetus Placenta Umbilical cord Amniotic fluid Cervicometry

24. 18 – 23 týden Standard examination Determined views

25. Absence of nasal bone

26. Achondroplasia

27. Lemon sign Banana sign

28. Hydrocephalus

29. Facial clefts

30. Diafragmatic hernia

31. Diafragmatická hernie

32. 4-chamber view

34. Transposition of great arteries (TGA)

35. Cystic renal degeneration

36. Achondroplasia

37. Clinodactylia

38. Pes equinovarus

39. Absence of a.umbilicalis

40. Minor markers More frequently associated with the risk of aneuplodia NF - nuchal fold >6mm Choroid plexus cysts Echogenic intracardial focus Pyelektasia >5mm Shorter humerus, femur

41. 3D (I,II,III trim.) 3D/4D I,II, III.trim: Neurological scoring systems Fetal ECHO Of-line assessement New possibilities of US diagnostics

42. Invasive prenatal diagnostic methods Preimplantation diagnosis Direct fetal visualiasation Embryoscopia Fetoscopia Biopsy of fetal cells, tissues Amniocentesis Chorionic Villus Sampling (CVS) Percutaneous Umbilical Blood Sampling (PUBS) Percutaneous skin biopsy Biopsy of organs, muscle, liver biopsy

43. CVS - Chorionic Villus Sampling Indication – positive I. trim. screening 12wks Transabdominal approach under US control Vacucentesis 0,8% - placental mozaicismus – AMC, PUBS Late CVS – II.trimestr- transabdominal approach

44. Amniocentéza 16wks - 15+1 Transabdominal approach US control Amniovacucentesis

45. PUBS percutaneus umbilical cord sampling Indications - unsuccessful AMC - time pressure –late detection of positive biochemical screening - chromozomal mozaicisme - prenatal diagnosis of infection– rubeola, TOXO, CMV, Varicella, Parvovirosis B19, Boreliosis

46. Cytogenetic examination of amniotic fluid long time cultivation of amniocytes /10-20days/ FISH – fluorescent in situ hybridisation – detection of numeric chromozomal abnormalities QF-PCR – quantitative fluorescent polymerase reaction - fast detection within 24hrs T21,18,13, assessment of gender Prenatal paternal analysis Assessment of zygozicity Non-invasive analysis of fetal DNA/RNA mother´s blood

47. DdDDdddDDDDDdDDD Thank you for your attention!