ANAT PATH

Question 1

Newborn screening tests are performed to detect:
a) Genetic mutations in adults
b) Maternal infections during pregnancy
c) Chromosomal abnormalities in newborns
d) Metabolic and genetic disorders in newborns

Answer 1

d) Metabolic and genetic disorders in newborns

Question 2

Which hormone, if administered to pregnant females, can cause masculinization of the genitalia in female embryos?
a) Estrogen
b) Progesterone
c) Androgen
d) Insulin

Answer 2

c) Androgen

Question 3

Folate supplementation during pregnancy is recommended to prevent:
a) Down syndrome
b) Spina bifida
c) Cystic fibrosis
d) Turner syndrome

Answer 3

Spina bifida

Question 4

Chromosomal abnormalities can be classified into:
a) Numerical and structural abnormalities
b) Single-gene and multifactorial abnormalities
c) Autosomal dominant and autosomal recessive abnormalities
d) Environmental and genetic abnormalities

Answer 4

) Numerical and structural abnormalities

Question 5

Which virus is known to cause congenital abnormalities such as cataract, heart defects, and deafness?
a) Influenza virus
b) Herpes simplex virus
c) Rubella virus
d) Human immunodeficiency virus

Answer 5

c) Rubella virus

Question 6

Which prenatal diagnostic technique involves the removal of a small amount of amniotic fluid?
a) Ultrasound
b) Chorionic villus sampling
c) Maternal serum screening
d) Amniocentesis

Answer 6

Amniocentesis

Question 7

What is the primary cause of cystic fibrosis?
a) Exposure to environmental toxins
b) Advanced paternal age
c) Autosomal dominant inheritance
d) Autosomal recessive inheritance

Answer 7

d) Autosomal recessive inheritanced) Autosomal recessive inheritance

Question 8

Spina bifida is a congenital anomaly that affects which part of the body?
a) Heart
b) Brain
c) Spinal cord
d) Kidneys

Answer 8

C

Question 9

The most common cause of Down syndrome is:
a) Exposure to teratogenic agents
b) Advanced maternal age
c) Genetic mutation inherited from parents
d) Maternal malnutrition

Answer 9

b) Advanced maternal age

Question 10

Congenital anomalies are:
a) Infections acquired during pregnancy
b) Abnormalities that develop after birth
c) Structural or functional anomalies that occur during intrauterine life
d) Genetic mutations that occur in adulthood

Answer 10

c) Structural or functional anomalies that occur during intrauterine life

Question 11

What is the significance of genetic testing in personalized medicine?

Answer 11

Genetic testing plays a crucial role in personalized medicine by identifying genetic variations that may influence an individual’s response to certain medications, allowing for personalized treatment plans and improved therapeutic outcomes.

Question 12

How do teratogens differ from genetic disorders in terms of causation?

Answer 12

Teratogens are external factors (such as drugs, infections, radiation) that can cause birth defects, while genetic disorders are primarily caused by changes or mutations in an individual’s genes or chromosomes.

Question 13

What are some examples of X-linked recessive disorders?

Answer 13

Examples of X-linked recessive disorders include hemophilia, Duchenne muscular dystrophy, and color blindness.

Question 14

What is the role of genetic counseling?

Answer 14

Genetic counseling provides individuals and families with information about genetic conditions, inheritance patterns, risk assessment, and available testing options to help them make informed decisions about their reproductive health.

Question 15

What is the most common cause of intellectual disability?

Answer 15

The most common genetic cause of intellectual disability is Down syndrome, followed by Fragile X syndrome.

Question 16

What is the purpose of newborn screening tests?

Answer 16

Newborn screening tests are performed to detect various metabolic, genetic, and endocrine disorders in newborns before symptoms appear, allowing early intervention and treatment.

Question 17

What is the role of amniocentesis in prenatal diagnosis?

Answer 17

: Amniocentesis is a prenatal diagnostic test that involves removing a small amount of amniotic fluid to analyze fetal cells for chromosomal abnormalities and genetic disorders.

Question 18

What are some common physical features associated with Down syndrome?

Answer 18

Common physical features associated with Down syndrome include upward slanting eyes, flattened facial profile, small ears, a single crease across the palm (simian crease), and poor muscle tone.

Question 19

What are the major organs affected by cystic fibrosis?

Answer 19

The major organs affected by cystic fibrosis are the lungs, pancreas, liver, and intestines.

Question 20

How is cystic fibrosis inherited?

Answer 20

Cystic fibrosis is inherited in an autosomal recessive manner, meaning that both parents must carry a defective CFTR gene for their child to be affected.

Question 21

What are some common physical features associated with Down syndrome?

Answer 21

Common physical features associated with Down syndrome include upward slanting eyes, flattened facial profile, small ears, a single crease across the palm (simian crease), and poor muscle tone.

Question 22

What is the primary cause of Down syndrome?

Answer 22

Down syndrome is primarily caused by the presence of an extra copy of chromosome 21, resulting in trisomy 21.

Question 23

What is the most common cause of hydrocephalus in neonates?

Answer 23

Arnold Chiari.

Question 24

What are the clinical features associated with hydrocephalus?

Answer 24

Clinical features of hydrocephalus include macrocephaly, widely separated sutures, huge fontanelles, and progressive intellectual impairment.

Question 25

What is the most severe form of spina bifida?

Answer 25

The most severe form of spina bifida is spina bifida cystica, which can be further classified into meningocele and myelomeningocele.

Question 26

What are the two types of spina bifida?

Answer 26

The two types of spina bifida are spina bifida occulta and spina bifida cystica.

Question 27

How can neural tube defects be detected prenatally?

Answer 27

Neural tube defects can be detected prenatally through maternal serum screening (e.g., AFP) and ultrasound imaging.

Question 28

What is the role of folic acid in the prevention of neural tube defects?

Answer 28

Folic acid supplementation before conception and during early pregnancy reduces the incidence of neural tube defects by 75%.

Question 29

Give an example of a drug that can produce congenital anomalies if given to a pregnant female.

Answer 29

Thalidomide is a drug that can produce limb defects (phocomelia) and heart malformations if given to a pregnant female.

Question 30

How does ionizing radiation affect the development of a fetus?

Answer 30

Ionizing radiation kills rapidly proliferating cells, which can lead to various types of birth defects depending upon the dose and stage of development.

Question 31

Name an infectious agent that can cause congenital anomalies.

Answer 31

: Rubella (German measles) is an infectious agent that can cause congenital anomalies such as cataract, glaucoma, heart defects, and deafness.

Question 32

What is the significance of maternal age in chromosomal abnormalities?

Answer 32

Late maternal age at the time of pregnancy can lead to chromosomal non-disjunction, which is a cause of chromosomal abnormalities.

Question 33

How are chromosomal abnormalities classified?

Answer 33

Chromosomal abnormalities are classified into numerical and structural abnormalities.

Question 34

What are the causes of congenital malformations?

Answer 34

The causes of congenital malformations can be genetic factors, chromosomal abnormalities, multifactorial disorders, teratogenic agents, or unknown factors.

Question 35

Give an example of a syndrome caused by congenital anomalies.

Answer 35

Down syndrome (Trisomy 21) is an example of a syndrome caused by congenital anomalies.

Question 36

What are the types of abnormalities associated with congenital anomalies?

Answer 36

The types of abnormalities associated with congenital anomalies include malformations, disruptions, deformations, sequences, and syndromes.

Question 37

During which period of development do teratogenic agents usually disrupt development and cause major congenital anomalies?

Answer 37

Teratogenic agents disrupt development and may cause major congenital anomalies during the organogenesis period, which is the 3rd to 8th weeks of development.

Question 38

What is the incidence of obvious major anomalies among live-born infants?

Answer 38

About 3% of all live-born infants have an obvious major anomaly.

Question 39

Define congenital anomalies.

Answer 39

Congenital anomalies are structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth, or later in life.

Question 40

What are congenital anomalies also known as?

Answer 40

Congenital anomalies are also known as birth defects, congenital disorders, or congenital malformations.