Ultrasound Diagnosis of Fetal Anomalies

Introduction 1 Ultrasound screening 1.1 General considerations 1.2 I. Screening (8 - 11 weeks) 1.3 II. Screening (18 - 21 weeks) 1.4 III. Screening (28 - 31 weeks) Systematic scanning of fetal anomalies 2 The central nervous system and the eye 2.1 Anencephaly 2.2 Aqueduct Stenosis 2.3 Arachnoid cysts 2.4 Agenesis of corpus callosum 2.5 Dandy-Walker syndrome: 2.6 Encephalocele 2.7 Holoprosencephaly 2.8 Hydranencephaly 2.9 Hydrocephalus internus 2.10 Iniencephaly 2.11 Intracranial bleeding 2.12 Cataract 2.13 Microcephaly 2.14 Spina bifida aperta ( [Myelo-] meningocele) 2.15 Teratoma (intracranial) 2.16 Aneurysm of the vein of Galen 3 Face and neck 3.1 Facial clefts (cleft lip and cleft palate) 3.2 Hygroma colli (cystic hygroma of the neck) 3.3 Goitre (fetal) 4 Thorax 4.1 Congenital cystic adenomatoid malformation of the lung (CCAM) 4.2 Oesophageal atresia 4.3 Primary fetal hydrothorax 4.4 Diaphragmatic hernia 5 The Heart 5.1 General considerations 5.2 Coarctation of the aorta 5.3 Atrioventricular septal defect (AV canal) 5.4 Bradycardia 5.5 Double Outlet Right Ventricle (DORV) 5.6 Ebstein Anomaly 5.7 Ectopia cordis / Cantrell pentalogy 5.8 Extrasystoles (supraventricular) 5.9 Tetralogy of Fallot 5.10 Hypoplasia of the left heart 5.11 Cardiac rhabdomyomas: 5.12 Tachycardia 5.13 Transposition of the great arteries (TGA) 5.14 Ventricular septal defect (VSD) 6 Abdomen 6.1 Anal atresia 6.2 Ascites 6.3 Duodenal atresia 6.4 Intestinal atresia and stenosis 6.5 Gastroschisis 6.6 Intra-abdominal calcification (hepatic calcification) 6.7 Meconium peritonitis 6.8 Omphalocele 7 The urogenital tract 7.1 Bladder extrophy 7.2 Genital anomalies 7.3 Hydronephrosis 7.4 Infantile polycystic kidney disease (IPKD) 7.5 Multicystic renal dysplasia 7.6 Renal agenesis 7.7 Hematoma of the adrenal gland 7.8 Ovarian cysts (fetal) 7.9 Sacro-coccygeal teratoma 7.10 Ureterocele 7.11 Urethral valve sequence 8 Skeletal anomalies 8.1 General information 8.2 Achondrogenesis 8.3 Achondroplasia 8.4 Amniotic band syndrome 8.5 Arthrogryposis multiplex congenita (multiple congenital contractures) 8.6 Diastrophic dysplasia 8.7 Focal femoral hypoplasia 8.8 Hypochondroplasia 8.9 Campomelic dysplasia 8.10 Club foot (Talipes), "Rocker bottom foot" 8.11 Osteogenesis imperfecta 8.12 Polydactyly 8.13 Radius aplasia, Radius hypoplasia 8.14 Short-Rib-Polydactyly Syndrome (SRPS) Type I (Saldino-Noonan) and Type III (Naumoff) 8.15 Short-Rib-Polydactyly Syndrome Type II (Majewski syndrome) 8.16 Thanotophoric dysplasia Chromosomal disorders and their soft markers 9 Chromosomal disorders 9.1 General considerations 9.2 Jacobsen syndrome (Deletion 11q) 9.3 Pallister-Killian syndrome (Tetrasomy 12 p) 9.4 Triploidy 4 9.5 Trisomy 8 9.6 Trisomy 9, partial trisomy 9p 9.7 Trisomy 10 9.8 Trisomy 13 (Patau syndrome) 9.9 Trisomy 18 (Edwards syndrome) 9.10 Trisomy 21 (Down syndrome) 9.11 Turner syndrome 9.12 Wolf-Hirschhorn syndrome (Chromosome- 4p syndrome) 10 Soft markers of chromosomal aberrations 10.1 Abnormal shape of the head 10.2 Dandy-Walker variant ( open cerebellar vermis) 10.3 Echogenic bowel 10.4 Echogenic kidneys 10.5 Marginal ventriculomegaly 10.6 Marginal dilation of renal pelvis 10.7 Short femur 10.8 Nuchal translucency 10.9 Choroid plexus cysts 10.10 Singular umbilical artery (SUA) 10.11 White Spot (echogenic focus within the heart) 11 Selected syndromes and associations 11.1 Apert syndrome 11.2 Beckwith-Wiedemann syndrome 11.3 Body Stalk anomaly 11.4 CHARGE Association 11.5 Cornelia-de Lange syndrome (Brachmann-de Lange syndrome) 11.6 Crouzon syndrome (Cranio-facial dysostosis type I) 11.7 Ellis-van-Creveld syndrome 11.8 Freeman-Sheldon syndrome (Whistling face) 11.9 Fryns syndrome 11.10 Goldenhar syndrome 11.11 Holt-Oram syndrome 11.12 Hydrolethalus 11.13 Caudal regression syndrome 11.14 Klippel-Trenaunay-Weber syndrome 11.15 Larsen syndrome 11.16 Meckel-Gruber syndrome (dysencephalia splanchnocystica) 11.17 Miller-Dieker Syndrome (lissencephaly type I) 11.18 Mohr syndrome (Orofaciodigital syndrome, type II) 11.19 Multiple pterygium syndrome 11.20 MURCS association 11.21 Nager syndrome (Dysostosis acrofacialis) 11.22 Neu-Laxova syndrome 11.23 Noonan syndrome (Turner-like syndrome) 11.24 Pena-Shokeir syndrome (pseudotrisomy 18) 11.25 Pierre-Robin sequence 11.26 Russell Silver syndrome 11.27 Shprintzen syndrome (velocardial syndrome) 11.28 Smith-Lemli-Opitz syndrome 11.29 TAR syndrome (Thrombocytopenia-Absent Radius) 11.30 Tuberous sclerosis 11.31 VACTERL association 11.32 Walker-Warburg syndrome (lissencephaly type II) 11.33 Cystic fibrosis (mucoviscidosis) Other causes of fetal disease and anomalies 12 Fetal hydrops 12.1 Non immune hydrops fetalis (NIHF) 12.2 Rhesus incompatibility 13 Infections 13.1 Congenital syphilis 13.2 Congenital varicella 13.3 Parvovirus B 19 13.4 Toxoplasmosis 13.5 Cytomegaly 14 Placenta, cord and amniotic fluid 14.1 Chorioangioma 14.2 Hydramnios 14.3 Cysts of the umbilical cord 14.4 Oligohydramnios 15 Twins 15.1 Determination of chorionicity 15.2 Conjoined twins 15.3 Twin Reversed Arterial Perfusion (TRAP sequence) 15.4 Twin to twin transfusion syndrome (TTTS) 15.5 Growth restriction in twins 16 Growth disturbance 16.1 Macrosomia 16.2 Growth restriction 17 Diabetes mellitus 18 Drugs 18.1 Anticonvulsive drugs 18.2 Fetal alcohol syndrome 18.3 Cocaine and heroin Appendix