Edwards Syndrome (Trisomy 18)

Establish the goals of care before you plan the anesthetic - This comes first in trisomy 18 and it is not a formality. There is no definitive treatment, and parents are choosing between comfort care and prolonging life with intensive treatment or surgery. That decision determines whether you are providing an anesthetic for a palliative procedure or a full physiologic rescue, how aggressively you will resuscitate, and what postoperative escalation is on the table. Read the documented plan, confirm it with the parents and the surgical team in the same conversation, and write down what was agreed. An institutional ethics committee is often already involved.

Micrognathia plus a prominent occiput is the airway - Micrognathia is a consistent finding, and the prominent occiput flexes an infant's neck on the table before you have done anything. Put a shoulder roll in to extend the neck and bring the axes into line before laryngoscopy, and have a video laryngoscope and a supraglottic airway open. Look in the mouth for cleft palate, which is a described association and changes both the view and the aspiration risk.

Get the echocardiogram - Cardiac defects are the leading cause of death in trisomy 18, and cardiac failure from those defects is the specific mechanism. Ventricular and atrial septal defects are the common lesions. Let the report set the hemodynamic plan, and de-bubble and filter every line on the assumption that a septal defect can shunt right to left under the wrong loading conditions.

Pulmonary hypertension is part of the mortality picture - Respiratory failure in trisomy 18 comes from obstructive apnea, pulmonary hypertension, hypoventilation and central apnea. Keep the pulmonary vascular resistance down the way you would in any child with pulmonary hypertension: avoid hypoxia, hypercarbia, acidosis and hypothermia, and do not let the airway obstruct on emergence.

Central apnea is the reason to be careful with opioid - Both central apnea and hypoventilation are named causes of death here, and neurological instability is a cause of sudden death. Use multimodal and regional analgesia where the case allows, titrate opioid in small increments to effect, and plan monitored respiratory observation postoperatively rather than a ward bed.

Check renal function before you dose anything renally cleared - Renal defects are a recognized part of the syndrome, and failure of normal renal ascent produces pelvic and horseshoe kidneys. Get a creatinine and the renal ultrasound report, and adjust drug choice and fluid plan to what they show.

Expect abdominal wall and diaphragmatic pathology - Omphalocele is associated, as is congenital diaphragmatic hernia, and these are frequently what brings the neonate to the operating room. Both change ventilation and volume status substantially, and the diaphragmatic hernia in particular means gentle ventilation and readiness for a hypoplastic lung.

Position around the contractures - Clenched hands with overriding index fingers are the classic finding, and joint position is fixed. Pad and support limbs where they lie rather than straightening them, and note that these hands make pulse oximetry siting and arterial access genuinely awkward — plan a foot or an ear as the backup site.

Small, growth-restricted and prone to heat loss - Intrauterine growth restriction is the rule and a third of survivors are delivered preterm. Warm the room before the patient arrives, use forced-air warming and fluid warming from the start, and monitor temperature continuously.

A full stomach is the default in the emergency case - Feeding difficulty is near universal and many of these neonates present acutely. Treat the stomach as full, decompress it with an orogastric tube once the airway is secure, and extubate awake.

Edwards syndrome is trisomy of chromosome 18, usually the long arm, and is the second most common autosomal trisomy after trisomy 21. It occurs in complete, partial and mosaic forms, and its frequency rises with maternal age. Live birth prevalence is 1 in 3,600 to 1 in 10,000; in the United States overall prevalence is about 1 in 2,500 with liveborn prevalence of 1 in 8,600. Females are affected more often and survive longer.

More than 125 anomalies have been described and none is pathognomonic. The findings that shape an anesthetic are microcephaly with a prominent occiput, micrognathia, low-set malformed ears, cleft palate, cardiac defects (most often ventricular and atrial septal defects), renal anomalies including horseshoe and pelvic kidney, omphalocele, congenital diaphragmatic hernia, and clenched hands with overriding index fingers. Survival is short: median 3 to 14.5 days, 20% to 40% at one month, about 10% at one year.