MCQs In Metabolic Diseases

Q1:

The pregnant mother of a child in your practice recently learned that her grandmother had a

child who died of "probable metabolic disease" at 2 days of age. She does not know details, and

medical records on that child no longer are available. The mother asks if her pregnancy can be

tested to see if the fetus could be affected with the same disorder.

Of the following, the MOST accurate statement regarding metabolic disease in the prenatal

setting is that

A. fetuses affected with metabolic diseases are unlikely to come to term

B. knowing the parents’ ethnic backgrounds aids in determining which tests should be offered

C. level 2 ultrasonography during the second trimester is likely to be helpful in detecting metabolic

disease

D. poor fetal growth is common in metabolic diseases

E. prenatal metabolic screening panels are widely available

Answer

B

The vignette highlights the importance of accessing as much information as possible
regarding family members who die from metabolic causes. Even if a diagnosis cannot be made
in a particular instance, medical records may be helpful in offering the expectant couple
guidance or in making a diagnosis posthumously. Taking a careful family history, with attention
to familial ethnic, religious, and geographic origins, may bring to light conditions that are likely to
run in families. For example, because of the high carrier rate for some metabolic diseases,
parents of Ashkenazi Jewish descent, whose ancestors originated from Eastern Europe, are at
increased risk for having children affected by Tay-Sachs disease  and people of
French-Canadian heritage are at increased risk for having children affected by tyrosinemia.