Medical Genetics - V. M. Zaporozhan 2005
Prevention of Hereditary Diseases
Review Questions for Chapter 11
1. Medical and social aspects of Hereditary and Congenital pathology.
2. General population genetic risk.
3. Morphology/3.html">MAIN DIRECTIONS OF primary Prevention of hereditary pathology.
4. Purpose and means of Population Genetic monitoring.
5. Organization OF THE medical genetics service in Ukraine.
6. Genetic Counseling: purpose, objectives, types, stages. Indications for genetic counseling.
7. Preconceptional prevention of Hereditary diseases and Congenital Malformations.
8. Secondary prevention. Classification of Methods for prenatal Diagnosis.
9. Non-Invasive Methods: serum markers, ultrasound. Prenatal screening. Potential Use of Fetal Cells circulating in maternal Blood.
10. Invasive methods.
11. Diagnosis of hereditary diseases within modern reproductive technologies.
12. What is fetology? Potential for prenatal Treatment of Hereditary diseases and developmental defects.
13. What is universal newborn screening?
14. Diagnosis of heterozygous carrier status for recessive genes of monogenic hereditary diseases. Determination of genetic susceptibility to Multifactorial Diseases.
15. Issues surrounding human genetic profiling.
16. Ethical, Moral, and Legal Issues in Medical Genetics.
Review and Study Questions
Task 1
Choose one answer.
1. One of the methods of preconceptional prevention is prescribing Folic acid to pregnant women 2–3 months before the planned Pregnancy and for 3 months after conception. Supplementation with this vitamin reduces the risk of:
A. Heart defects
B. Neural tube defects
C. Phenylketonuria
D. Congenital hypothyroidism
E. Down syndrome
2. There is a risk of stillbirth, having a child with hereditary disorders, and congenital birth defects in every family (population-wide genetic risk). For healthy parents of optimal reproductive age, this is estimated at:
A. 1-2 %
B. 2.5 %
C. 3 %
D. 5.5 %
E. Up to 20 %
3. Prenatal ultrasound can diagnose all of the following except:
A. Anencephaly
B. Anterior abdominal wall defects
C. Polycystic Kidney Disease
E. Galactosemia
4. Name the most effective methods for prenatal screening of neural tube defects:
A. Chorionic villus sampling followed by karyotyping
B. Placental biopsy followed by DNA Diagnostics
C. Maternal serum AFP determination and Ultrasound examination
D. Amniocentesis followed by AFP measurement
E. Ultrasound
5. Molecular-Genetic Methods are appropriate for the Prenatal Diagnosis of all the following conditions except:
A. Cystic fibrosis
B. Phenylketonuria
C. Achondroplasia
D. Hemophilia
E. Duchenne muscular dystrophy
6. Chorionic villus sampling followed by DNA diagnostics is the primary method of prenatal diagnosis in the first trimester of pregnancy:
A. Down syndrome
C. Neural tube defects
D. Achondroplasia
E. Cystic fibrosis
7. A 40-year-old pregnant woman has a history of 3 healthy children. Gestational age is 7 weeks. What is the physician's optimal strategy regarding the choice of prenatal diagnostic method?
A. Chorionic villus sampling (CVS) followed by karyotyping
B. Amniocentesis followed by karyotyping
C. Ultrasound examination
D. Determination of alpha-fetoprotein in blood serum
E. Ultrasound examination and alpha-fetoprotein determination
8. The most effective method for prenatal diagnosis of congenital musculoskeletal disorders is:
A. Ultrasound examination
B. Determination of AFP in the pregnant woman's blood serum
C. Ultrasound examination and AFP determination
D. Amniocentesis
E. Chorionic villus sampling
9. Which serum marker is used for prenatal diagnosis in the first trimester of pregnancy?
А. PAPP-A
B. AFP
C. hCG
D. HE
E. Inhibin A
10. A 22-year-old pregnant woman. First pregnancy at 12 weeks of gestation. Ultrasound reveals an increased nuchal translucency thickness. The pregnant woman's blood serum shows a decreased PAPP-A concentration and an increased ß-hCG concentration. These are symptoms of:
A. Fetal neural tube defects
B. Fetal Down syndrome
C. Fetal limb reduction defect
D. Fetal achondroplasia
E. Fetal enzymopathy
11. A 22-year-old pregnant woman presents at 12 weeks of her first pregnancy. Ultrasound reveals an increased nuchal translucency thickness. Maternal serum screening shows a decreased PAPP-A level and an elevated ß-hCG level. What is the appropriate physician's management regarding the choice of prenatal diagnostic methods?
A. Detailed fetal ultrasound
B. Ultrasound, maternal blood AFP and hCG assay at 15-30 weeks
C. Invasive Procedures followed by karyotyping
D. Invasive methods followed by DNA diagnostics
E. Amniocentesis and AFP concentration measurement in the Amniotic Fluid
12. Mass biochemical screening involves:
A. Examination of children from institutions for the visually impaired
B. Testing newborn blood or urine for glycosaminoglycans (mucopolysaccharides)
C. Screening newborns to detect specific forms of hereditary pathology at a preclinical stage.
D. Examination of children with convulsive syndrome, psychomotor delay, and paraplegia
E. Examination of children with psychomotor retardation, hepatosplenomegaly, and food intolerance
13. Mass biochemical screening is advisable for all of the following disorders except:
A. Phenylketonuria
B. Galactosemia
C. Congenital hypothyroidism
D. Mucopolysaccharidosis
E. Adrenogenital syndrome
14. When should blood be collected from a newborn for phenylketonuria screening?
A. During labor (cord blood)
B. 3rd–5th day of life
C. 15th-20th week of gestation
D. 1 month
E. 2-3 months
Task 2
Choose the optimal prenatal diagnostic management for the clinical situations given in the table
|
Clinical situations |
Methods of prenatal diagnosis |
|
1. A 28-year-old pregnant woman is at a genetic counselor's office. This is her second pregnancy at 6 weeks of gestation. Her first pregnancy resulted in a daughter with the translocation form of Down syndrome. The woman's husband has a balanced Robertsonian translocation between chromosome 21 and chromosome 13. Physician's management 2. A 22-year-old pregnant woman. Gestational age is 12 weeks. Family history reveals cases of neural tube defects in first-degree relatives 3. A 26-year-old woman with a history of giving birth to a child with multiple congenital anomalies and a normal karyotype 4. A 29-year-old pregnant woman. This is her third pregnancy at 8 weeks of gestation. Her first pregnancy resulted in a son with fragile X syndrome; the second pregnancy ended in a medical abortion. Her sister has two sons with fragile X syndrome 5. A 28-year-old pregnant woman. This is her second pregnancy at 8 weeks of gestation. Her first pregnancy resulted in a son with phenylketonuria. The husband is 28 years old. The couple is healthy and carries the heterozygous R408W mutation 6. A 23-year-old pregnant woman. This is her first pregnancy at 6 weeks of gestation. The husband is healthy, 25 years old. Family history is unremarkable for hereditary disorders. 7. A 39-year-old woman at 15 weeks of gestation 8. A 39-year-old woman at 8 weeks of gestation |
A. Prenatal screening at 10-14 and 15-20 weeks of gestation B. Prenatal screening at 10-14 weeks of gestation (measurement of nuchal translucency thickness, visualization of the Nasal bone, determination of PAPP-A and β-hCG concentrations), calculation of individual genetic risk, and, if necessary, consideration of invasive prenatal diagnosis C. Chorionic villus sampling followed by cytogenetic analysis D. Detailed fetal ultrasound E. Determination of maternal serum AFP and fetal ultrasound at 15-20 weeks of gestation F. Invasive diagnosis (chorionic villus sampling, amniocentesis, placentocentesis, or cordocentesis) followed by molecular genetic testing G. Invasive diagnosis (amniocentesis, placentocentesis, cordocentesis) followed by cytogenetic analysis |
Task 3
For each of the genetic situations listed in the table, select the possible clinical consequences
|
Genetic situations |
Clinical consequences |
|
1. Maternal age of 39 years 2. Paternal age of 45 years 3. One of the parents has a balanced translocation 4. Consanguineous marriage 5. Proband is an affected male. A similar Clinical presentation is observed in the proband's maternal uncle |
A. Increased risk of having a child with an autosomal recessive disorder B. Increased risk of having a child with an autosomal dominant disorder due to a new mutation C. Recurrent early pregnancy loss D. X-linked recessive disorder E. High risk of having a child with Down syndrome |
Last update: 11/08/2026
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