Barbora Kubešová

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

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

US screeningu % recognisable defects 18 – 24 20% defects 30+ rare detection of congenital defects, aquired malformations, condition of fetus

Why  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

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/

Measurement of CRL – crown rump lenght

Chorionicity - signs

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

Skull, CNS

Acranius

Cystic hygroma XO

Atrioventricular canal

Physiological herniation

Omfalocoele

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

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))

NT –nuchal translucency

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

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

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

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

18 – 23 wks Fetus Placenta Umbilical cord Amniotic fluid Cervicometry

18 – 23 týden Standard examination Determined views

Absence of nasal bone

Achondroplasia

Lemon sign Banana sign

Hydrocephalus

Facial clefts

Diafragmatic hernia

Diafragmatická hernie

4-chamber view

Transposition of great arteries (TGA)

Cystic renal degeneration

Achondroplasia

Clinodactylia

Pes equinovarus

Absence of a.umbilicalis

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

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

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

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

Amniocentéza 16wks Transabdominal approach US control Amniovacucentesis

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

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

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