Medical Genetics - V. M. Zaporozhan 2005
Congenital Malformations
Review Questions for Chapter 9
1. What are congenital malformations (CMs)? Population frequency and Factors influencing the frequency of CMs.
2. Classification of Congenital Malformations by Etiology, extent of involvement, and sequence of appearance. What is an anomalad?
3. Gametopathies, embryopathies, and fetopathies. Critical Periods of embryonic development.
4. Gene families responsible for developmental defects.
5. Teratogenic factors.
6. Developmental defects associated with the action of teratogenic factors.
Self-assessment and study questions
Choose one answer.
1. During which period of embryonic development do teratogenic factors act According to the "all-or-none" principle?
A. Pre-implantation
B. In the first 15 days
C. From 15 days to 8 weeks
D. At 9-10 weeks
E. From 11 weeks to the end of Pregnancy
2. At certain Stages of the Embryonic period, the embryo is most sensitive to teratogenic factors. Name the first critical period of embryonic development:
B. 1-2 weeks of gestation
C. Implantation
D. 3-8 weeks
E. 10-12 weeks of gestation
3. Cyclopia was diagnosed in a stillborn infant. This is an example of:
A. Blastopathy
B. Implantation disorder
C. Embryopathy
D. Fetopathy
E. Gametopathies
4. During pregnancy, a woman took anticonvulsants. At what gestational age is the intake of these drugs most likely to contribute to The Development of malformations?
A. Fertilization
B. 1-2 weeks of pregnancy
C. Implantation
D. 3-10 weeks
E. 11-12 weeks of pregnancy
5. A newborn is diagnosed with amelia. Which group of congenital malformations does it belong to?
A. Blastopathies
B. Implantation disorders
C. Embryopathies
D. Fetopathies
E. Gametopathies
6. A pregnant woman suffered from an acute febrile illness at 9-10 weeks of gestation. This can lead to:
A. Gametopathy
B. Blastopathy
C. Implantation disorder
D. Embryopathy
E. Fetopathy
7. A woman took thalidomide during pregnancy. At what gestational age is the intake of this drug most likely to contribute to the development of birth defects?
A. Fertilization
B. 1-2 weeks of pregnancy
C. Implantation
D. 3-10 weeks
E. 11-12 weeks of pregnancy
8. Teratogenic agents include all of the following drugs except:
A. Diazepam
B. Warfarin
C. Tetracycline
D. Penicillin
E. Synthetic vitamin A analogs
9. A woman consumed alcohol during pregnancy. This may lead to all of the following outcomes except:
A. Birth of a healthy child
B. Birth of a child with psychomotor developmental delay
C. Birth of a child with Down syndrome
D. Birth of a child with epicanthus, microgenia, and neuropsychological developmental delay
E. Birth of a child with microcephaly and small for gestational age
10. TORCH infections include all of the following except:
B. Rubella
C. Malaria
D. Cytomegalovirus
E. Herpes
Last update: 11/08/2026
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