2 nd Trimester Anomaly Scan What you can see & What you must see

Transcription

1 2 nd Trimester Anomaly Scan What you can see & What you must see D.Paladini Fetal Medicine & Surgery Unit Gasllini Children s Hospital - Genoa dpaladini49@gmail.com All images in this lecture were taken from: Paladini & Volpe. Ultrasound of Fetal Anomalies. CRCpress 2014 From the US sign to the diagnosis 1

2 Standardized echo views. 1 Standardized echo view. 2 2

3 Neurosonology Task Force: Malinger G, Monteagudo A, Pilu GL, Timor-Tritsch I, Toi A Transcerebellar view Transventricular view Coronal suture CSP Trans-ventricular view What you must see Subdural spaces Parieto-occipital Fissure Atrial width Insula Hemisphere 3

4 Trans-ventricular view What you must see Hemorrhage Holoprosencephaly Ventriculomegaly (DW) Trans-ventricular view What you can see Synostosis Hemimegalencephaly Colpocephaly (ACC) No CSP 4

5 Trans-cerebellar view What you must see Dandy-Walker Encephalocele Chiari II (NTD) Trans-cerebellar view What you can see Dandy-Walker? Arachnoid cyst (Ponto)-Cerebellar hypoplasia (Bart) Hemisphere hypoplasia 5

6 Fetal Face What you must see Bilateral clefting Microphtalmia Cataract Micrognathia Fetal Face What you can see Preauricolar tags Cataract Macroglossia 6

7 Fetal Face (profile) What you can see Apert S. Noonan S. Normal Normal Achondroplasia Binder Normal Four-chamber view. 1. What you must see (lungs) CDH Sequestration (EL) C-CAM I-III 7

8 Four-chamber view. 1. What you can see (lungs) Lung Hypoplasia (rt) Scimitar syndrome Lymphangioma Lung agenesis (left) Four-chamber view. 2. What you must see (heart) Ventricular Hypoplasia (HLH) Severe outflow obstruction AVSD, complete 8

9 Four-chamber view. 2. What you can see (heart) Abnormal pulmonary venous return ctga Left Isomerism Dextrocardia LSVC in CS Azygos continuation Abdomen - Kidneys What you must see Hydronephrosis Bilateral Agenesis Dysplastic Kidneys 9

10 Abdomen - Kidneys What you can see Horseshoe kidney Hidden Dysplasia Duplex Kidney Skeleton Long bones What you must see Micromelia (Thanatophoric Dyspl) Fracture (O.I., type II) Bowed femur (Campomelic Dyspl) 10

11 Skeleton Long bones What you can see Stippled epiphyses (Condrodyspl.punctata) Hemangiomatosis (Klipppel-Trenaunay S.) Focal hypoplasia Ultrasound views 11

12 The diagnostic paradox What can be seen Level II (diagnosis) What is seen Level I - Screening Factors affecting the diagnostic performance 12

13 WHO requisites for implementing a screening Coverage of the whole population Low cost High sensitivity of the screening test Easily applicable Known natural history (progression) Outcome improvement for screened cases Non-monetary utilities in Cost-Effectiveness Analyses of Ultrasound screening Grief for termination vs perinatal death Perceived value of early diagnosis allowing TOP Perceived value of procedure-related miscarriage vs final reassurance of normal/abnormal karyotype Perceived value of reassurance of normal anatomy Increased birth rate due to early reassurance of normal fetal anatomy in AR US-detectable disorders 13

14 The informed consent Dear Madame, You will be shortly undergoing the 2 trimester anomaly scan, the major aim of which is the screening/detection of congenital anomalies. By signing this form, you confirm that you are aware of the below listed issues: That only a limited number of congenital anomalies are detectable at ultrasound; That, to tell the truth, of those which are indeed detectable at ultrasound, we manage to overlook roughly half; And that, on the top of that, in a significant proportion of the ones we diagnose, we are not even able to accurately predict the prognosis and the longterm outcome 14