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ultrasound diagnosis of fatal anomalies

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APPENDIX

Table 19.1

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Screening of fetal organs and body regions

Face and neck

✔ Is the nose too small?

✔ Mouth and jawnormal?

✔ Chin and facial profile normal?

✔ Is the neck normal?

✔ Cystic hygroma detected?

✔ Evidence of goiter?

Chromosomal anomaly, holoprosencephaly

Cleft lip and cleft palate, isolated finding, chromosomal disorder?

Retrogenia? Within normal variation? Further anomalies?

Chromosomal aberration? Pierre Robin sequence?

Trisomy 21, trisomy 18, trisomy 13, Turner syndrome and other

anomalies

Thorax

✔ Position of the heart?

✔ Structure of the lungs?

✔ Intrathoracic cysts?

✔ Hydrothorax?

Altered due to diaphragmatic hernia (enterothorax)? Effected by

cardiac anomalies and pulmonary malformations? Situs inversus?

Teratoma, bronchogenic cysts, cystic dilation of the bronchus,

diaphragmatic hernia, pericardial cysts, CCAM, hemangioma/

lymphangioma, pulmonary sequestrum, pulmonary cysts,

neuroblastoma, dilation of the blind end of esophagus in esophageal

atresia, mediastinal meningocele, neuroenteric cysts

Immune and nonimmune fetal hydrops, chylothorax, diaphragmatic

hernia, CCAM, Pena–Shokeir syndrome, trisomy 21,

Turner syndrome, Noonan syndrome, cardiac failure, hypoalbuminemia,

infections

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The heart

✔ Is the heartbeat rhythmic?

✔ Axis of the heart?

✔ Pericardial effusion?

✔ Four-chamber view?

✔ Ventricular septum?

✔ Atrial septum/foramen ovale?

✔ AV valves?

✔ Great vessels, valves,

vessel crossings?

✔ Is the arch of aorta visible?

Extrasystoles, tachycardia, ventricular flutter, atrial bigeminus,

AV block with bradycardia, sinus bradycardia

Left ventricle small or absent: Left heart hypoplasia? Mitral atresia?

Aortic atresia? Aortic stenosis? Coarctation of the aorta?

Right ventricle small or absent: Pulmonary atresia? Tricuspid atresia?

Enlarged right ventricle: Tricuspid incompetence? Pulmonary

stenosis? Coarctation of the aorta? Constriction of ductus arteriosus

(Botallo’s duct)? Restrictive foramen ovale? Growth restriction?

Enlarged right atrium: Ebstein anomaly? Tricuspid incompetence?

Pulmonary stenosis? Pulmonary vein anomaly? Cardiac failure?

Absence of AV valve level: AV canal with a large ASD/VSD?

Small pulmonary artery: Tetralogy of Fallot? Pulmonary atresia?

Communicating trunk?

Small aortic bridge: Aortic atresia? Coarctation of the aorta?

Interruption of aortic arch?

Absence of vessel crossing: Transposition of great arteries?

Hypoplasia (coarctation of the aorta)? Interruption in continuity?

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