Neonatal Genetic Anomalies/Oncology

Question 1

What percent of Trisomy 18 survive past the first year of life? What percent survive to 5 years old?

Answer 1

50% of live-born Trisomy 18 survive past the first two weeks of life

Of those that survive past the first two weeks of life, 5-13% survive to 1 year of age.

From the survivors above, 80% survive to 5 years of age.

Question 2

Most common germ-cell tumor in neonates?

Answer 2

Teratomas (originate from primordial germ cells in the yolk sac that are supposed to migrate to the rudimentary gonads, but fail to migrate)

Question 3

Marker to track recurrence of germ-cell tumor?

Answer 3

Alpha-fetoprotein (AFP). Produced by germ cells, but also by the liver and the GI system. Refer to a nomogram for AFP to assess if AFP level is appropriate for chronological age.

Question 4

Surfactant-B protein deficiency is related to what kind of genetic mutation?

Answer 4

Homozygous recessive mutation (<25% of surfactant protein B has to be dys/non-functional to cause issues). Heterozygotes are usually asymptomatic. Only treatment for surfactant B protein deficiency is lung transplantation.