List of Anomalies

The list of anomalies, which are currently detectable or potentially detectable at 11-13 weeks.
Please press on names of anatomical structures below to reveal the lists of reviewing anomalies or syndromes:

  • Acrania
  • Exencephalon
  • Encephalocele
    • Anterior
    • Occipital
    • Parietal
  • Craniorachischisis
  • Iniencephaly
  • Abnormal shape of the head
    • Brachycephaly
    • Dolichocephaly
    • Trigonocephaly (strawberry shaped head)
    • Hypomineralised skull
  • Unclassified severe anomalies of the brain
  • Holoprosencephaly
    • Alobar
    • Semilobar
    • Lobar
  • Amniotic band related brain lesions
  • Ventriculomegaly
  • Choroid plexus cyst (CPC)
  • Striatal cysts
  • Spongiform choroid plexus
  • Arachnoid cysts
  • Midline cysts
  • Dandy Walker syendrom
  • 4th ventricle cysts
  • Blake pouch cysts
  • Spina bifida:
    • Brain (cranial signs)
    • Meningomyelocele
    • Rachischisis
    • Closed spina bifida
  • Fetal tail
  • Sirenomelia
  • Hemivertebra
  • Diastematomielia
  • Caudal regression
  • Kyphosis
  • Midfacial hypoplasia (flat face)
  • Anophtalmia
  • Microphtalmia
  • Cyclopia
  • Arhinia
  • Proboscis
  • Facial clefts
    • Midline cleft
    • Bilateral cleft
    • Unilateral cleft
    • Atypical cleft – amniotic band
  • Micrognathia
  • Cervical cysts/jugular lymphatic sacs
  • Cystic hygroma
  • Nuchal edema
  • Nuchal cyst
  • Scalp cysts
  • Lymphatic cysts
  • Early fetal hydrops
  • Pleural effusion
  • Pericardial effusion
  • Ascites
  • Congenital diaphragmatic hernia (CDH)
    • Left
    • Right
  • Lung agenesis
  • Small chest
  • Congenital High Airway Obstruction Syndrome (CHAOS)
  • Transposition of great arteries (TGA)
  • Tetralogy of Fallot (TOF)
  • Double outlet right ventricle (DORV)
  • Hypoplastic left heart syndrome (HLHS)
  • Atrioventricular septal defect (AVSD)
  • Coarctation of aorta (CoA)
  • Absent pulmonary valve
  • Bidirectional flow in aorta
  • Ventricular septal defect (VSD)
  • Interrupted aortic arch
  • Right and double aortic arch
  • Aortic stenosis
  • Pulmonary stenosis
  • Mitral atresia
  • Ebstein anomaly
  • Tricuspid dysplasia
  • Tricuspid atresia
  • Pulmonary atresia with intact ventricular septum (PAIVS)
  • Univentricular heart
  • Ectopia cordis
  • Dextrocardia
  • Left atrial isomerism (LAi)
  • Right atrial isomerism (RAi)
  • Bradycardia
    • Congenital heart block
    • Dying fetus
  • Tachycardia
  • Cardiomegaly
  • Single umbilical artery (SUA)
  • Persistent vitelline artery
  • Agenesis of ductus venosus (DV)
    • Intrahepatic
    • Extrahepatic
  • Interrupted inferior vena cava (IVC) and azygos continuation
  • Persistent right umbilical vein (PRUV)
  • Persistent left superior vena cava (PLSVC)
  • Bilateral renal agenesis
  • Unilateral renal agenesis
  • Megacystis
  • Lover urinary tract obstruction (LUTO)
    • Posterior urethral valves (PUV)
    • Urethral atresia
    • Meatal stenosis
  • Renal pelvic dilatation (RPD) and hydronephrosis
  • Hydroureter
  • Echogenic kidney
  • Cystic kidney
  • Duplex kidney
  • Pelvic kidney
  • Horseshoe kidney
  • Cloacal anomaly
  • Patent urachus
  • Allantoic cysts
  • Intraabdominal cysts
  • Anal atresia
  • Bowel dilatation
  • Exomphalos (omphalocele)
    • Bowel
    • Bowel and liver
  • Gastroschisis
    • Bowel
    • Bowel and liver
  • Pentalogy of Cantrell
  • Bladder exstrophy
  • Cloacal exstrophy
  • OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects)
  • Body stalk anomaly
  • Polydactyly
    • Hands
    • Feet
  • Syndactyly
  • Ectrodactyly (Claw hand)
  • Clenched hand
  • Transverse arm defects
  • Radial aplasia
  • Amniotic band related limb anomalies
  • Focal femoral dysplasia
  • Amelia
  • Short limbs
  • Talipes
  • X deformed legs
  • Fetal akinesia deformation sequence (FADS)
  • Intrauterine fractures
  • Thanatophoric dysplasia
  • Osteogenesis imperfecta (types II-III)
  • Achondrogenesis
  • Short rib polydactyly
  • Chondrodysplasia punctata
  • Diastrophic dysplasia
  • Hypophosphatasia
  • Jarcho Levin syndrome
  • Trisomy 21
  • Trisomy 18
  • Trisomy 13
  • Turners syndrome
  • Triploidy maternal (digynic)
  • Triploidy paternal (diandric)
  • DiGeorge syndrome (22q11 deletion)
  • Smith–Lemli–Opitz syndrome (SLO)
  • Meckel Gruber syndrome
  • Joubert syndrome
  • Fraser syndrome
  • Noonan syndrome
  • VACTERL association
  • Intrauterine infection
  • Partial mole
  • Placental cysts
  • Chorionic bump
  • Anhydramnios
  • Oligohydramnios
  • Baby in the envelope
  • Amniotic band syndrome
  • Intrauterine synechia
  • Velamentous cord insertion
  • Umbilical cord cysts
  • Pregnancy in scar
  • Subchorial haematoma
  • Twins
    • Dichorionic
    • Monochorionic
    • Monoamniotic
    • Conjoined
  • Twin with abnormal co-twin
  • Growth discordancy
  • Triplets
  • High order pregnancies
  • Twin reversed arterial perfusion (TRAP) sequence or acardiac twinning
  • Molar pregnancy with normal co-twin
  • Nuchal translucency (NT)
  • Nasal bone (NB)
  • Ductus venosus (DV)
  • Tricuspid regurgitation (TR)
  • Frontomaxillary facial (FMF) angle
  • Hepatic artery
  • hCG
  • PAPP-A
  • Aberrant right subclavian artery (ARSA)