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Question 18. Parents have had a previous child with spina bifida, but plan to have further children. Which of the following tests could be offered in any future pregnancy for prenatal diagnosis of the condition?

a) Maternal serum alphafetoprotein (AFP).
True False

b) Amniotic fluid AFP.
True False

c) Chorionic villus biopsy.
True False

d) Ultrasound.
True False

e) Amniotic fluid cell culture.
True False

Question 19. Ultrasonography can be used to:

a) diagnose twins.
True False

b) locate the placenta.
True False

c) determine fetal viability.
True False

d) diagnose phenylketonuria.
True False

e) diagnose sickle cell disease.
True False

Question 20. Conditions screened for routinely at birth include:

a) phenylketonuria.
True False

b) mental retardation.
True False

c) congenital hypothyroidism.
True False

d) Fragile X syndrome.
True False

e) chromosome abnormalities.
True False

Question 21. Indicate which of the following statements are true.

a) A mosaic results from non-disjunction during embryogenesis.
True False

b) A chimera can result from mixing of placental circulation in DZ twins.
True False

c) A dispermic chimera can result from double fertilisation of two egg nuclei.
True False

d) Gonadal mosaicism can be the cause of a couple unaffected by an autosomal dominant disorder having two children affected with the disorder.
True False

e) Variation in severity or a segmental distribution of a single gene disorder can be explained by gonadal mosaicism.
True False

Question 22. Indicate which of the following statements are true.

a) The G1 phase is the least variable of the cell cycle.
True False

b) Homologous chromosomes separate in meiosis II.
True False

c) Complete hydatidiform moles are entirely of paternal origin.
True False

d) Severe combined immunodeficiency can be inherited as an X-linked or autosomal recessive disorder.
True False

e) Ankylosing spondylitis is an HLA-associated disease.
True False

Question 23. Indicate which of the following statements are true.

a) The inborn error of metabolism adenosine deaminase deficiency is a cause of an inherited disorder of immunity.
True False

b) Antibody diversity is partly generated by germ-line recombination.
True False

c) Alpha thalassaemia is frequently due to deletions of the beta globin gene.
True False

d) Manifesting carrier females for X-linked disorders most commonly arise because they have a single X chromosome.
True False

e) Birth defects due to exposure to teratogens occur through exposure in the fetal stage of prenatal life.
True False

Question 24. Indicate which of the following statements are true.

a) Down's syndrome is due to a triplet repeat expansion.
True False

b) All the sons of a daughter of a male with haemophilia will be affected with the disorder.
True False

c) Some degree of mental handicap occurs in most cases of Turner's syndrome.
True False

d) The recurrence risk is greater if one parent has schizophrenia than if both parents are affected.
True False

e) Monochorionic twins are almost always dizygotic.
True False

Question 25. Population carrier screening

a) has been undertaken for β thalassaemia in several countries.
True False

b) can be offered for most multifactorial disorders.
True False

c) could in theory result in a reduction in the incidence of children affected with some of the common autosomal recessive disorders.
True False

d) should be compulsory to ensure widespread uptake so that the programme is effective.
True False

e) should be undertaken in every population with a high incidence of a serious autosomal recessive disorder to ensure that the economic burden of caring for affected children is not excessive.
True False

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