Question

If Jane and John want to have another child, they plan to see a genetic counselor to find out when it would be best to test for galactosemia. A newborn with galactosemia must be put on a lactose- and galactose-free diet as soon as possible after birth. Even on this diet, affected individuals may still suffer from learning disabilities, ovarian failure (in young women), late-onset cataracts, and early death.

Which of the following tests would be most useful for Jane and John to have?a. no testingb. newborn screening (either assaying for the GALT enzyme or measuring excess galactose in the newborn’s blood)c. carrier screening of Jane and John (to identify whether either or both of them carry the allele for galactosemia)d. fetal chromosome analysis (examining fetal chromosomes for abnormalities as early as 11 weeks into the pregnancy)

Answer 1

b. newborn screening (either assaying for the GALT enzyme or measuring excess galactose in the newborn’s blood).

Step-by-step explanation:

Neonatal screening is a preventive action that allows the diagnosis of various asymptomatic congenital or infectious diseases in the neonatal period in time to interfere with the course of the disease, thus allowing the institution of specific early treatment and the reduction or elimination of the disease. sequelae associated with each disease.

In the case of Jane and John's neonatal screening, the objective is to verify whether the child inherited (or would inherit) the galactose allele. This would be done by testing the enzyme GALT or by measuring excess galactose in the newborn's blood.