Congenital Anomalies: Causes, Mechanisms, and Clinical Significance

Question 1

Which of the following is considered a modifiable risk factor for neural tube defects?

Accepted Answer

Folic acid deficiency

Answer

Maternal obesity

Answer

Genetic predisposition

Answer

Advanced maternal age

Question 2

Which type of congenital heart defect is characterized by an opening in the wall between the two ventricles of the heart?

Accepted Answer

Ventricular septal defect

Answer

Atrial septal defect

Answer

Tetralogy of Fallot

Answer

Coarctation of the aorta

Question 3

Which of the following screening tests utilizes a maternal blood sample to assess the risk of Down syndrome in a fetus?

Accepted Answer

Maternal serum alpha-fetoprotein (MSAFP)

Answer

Ultrasound

Answer

Amniocentesis

Answer

Chorionic villus sampling (CVS)

Question 4

What is the primary function of the Sonic hedgehog (Shh) signaling pathway during limb development?

Accepted Answer

Establishing the proximo-distal axis

Answer

Establishing the anterior-posterior axis

Answer

Establishing the dorsal-ventral axis

Answer

Promoting cell proliferation

Question 5

What is the term for the congenital absence of one or both kidneys?

Accepted Answer

Renal agenesis

Answer

Renal dysplasia

Answer

Hydronephrosis

Answer

Polycystic kidney disease

Question 6

Which of the following types of spinal bifida involves the protrusion of the spinal cord and its coverings through an opening in the vertebral column?

Accepted Answer

Myelomeningocele

Answer

Meningocele

Answer

Spina bifida occulta

Answer

Lipomyelomeningocele

Question 7

What is the term for the congenital fusion of two or more fingers?

Accepted Answer

Syndactyly

Answer

Polydactyly

Answer

Brachydactyly

Answer

Clinodactyly

Question 8

Which of the following is NOT a major category of congenital anomalies?

Accepted Answer

Psychological

Answer

Structural

Answer

Metabolic

Answer

Genetic

Question 9

Which type of congenital anomaly is caused by an alteration in the number or structure of chromosomes?

Accepted Answer

Genetic

Answer

Environmental

Answer

Multifactorial

Answer

Unknown

Question 10

Which of the following is a common screening test used to detect congenital anomalies during pregnancy?

Accepted Answer

Ultrasound

Answer

Amniocentesis

Answer

Chorionic villus sampling

Answer

Fetal echocardiography

Question 11

Which type of congenital anomaly is characterized by an opening in the spine?

Accepted Answer

Spina bifida

Answer

Cleft lip

Answer

Down syndrome

Answer

Clubfoot

Question 12

Which type of congenital anomaly can affect the development of the brain and spinal cord?

Accepted Answer

Neural tube defect

Answer

Craniofacial anomaly

Answer

Musculoskeletal anomaly

Answer

Cardiovascular anomaly

Question 13

Which of the following is NOT a common symptom of Down syndrome?

Accepted Answer

Typical physical growth

Answer

Intellectual disability

Answer

Wide-set eyes

Answer

Small ears

Question 14

To prevent Down syndrome, which measure is recommended?

Accepted Answer

Folate supplementation

Answer

Hypertension management

Answer

Amniocentesis

Answer

Advanced maternal age

Question 15

Identify the most significant risk factor for neural tube defects in pregnancies.

Accepted Answer

Maternal folate insufficiency

Answer

Paternal tobacco use

Answer

Advanced maternal age

Answer

Exposure to environmental teratogens

Question 16

Provide an example of a multifactorial congenital anomaly.

Accepted Answer

Cleft lip and palate

Answer

Down syndrome

Answer

Spina bifida

Answer

Hemophilia

Question 17

Which substance is classified as a major teratogen?

Accepted Answer

Alcohol

Answer

Caffeine

Answer

Nicotine

Answer

Vitamin A

Question 18

Which genetic abnormality is characterized by an extra copy of chromosome 21?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Answer

Patau syndrome

Question 19

Which type of neural tube defect results from the failure of closure of the anterior neuropore?

Accepted Answer

Anencephaly

Answer

Encephalocele

Answer

Spina bifida

Answer

Hydrocephalus

Question 20

During pregnancy, which imaging technique is most commonly used to non-invasively visualize and diagnose birth defects in the fetus?

Accepted Answer

Ultrasound

Answer

X-ray

Answer

Magnetic Resonance Imaging (MRI)

Answer

Computed Tomography (CT) scan

Question 21

How does family history contribute to assessing the risk of congenital anomalies?

Accepted Answer

Estimating the likelihood of having a child with a congenital anomaly

Answer

Identifying the specific type of anomaly an individual is at risk for

Answer

Determining the environmental factors that may cause the anomaly

Answer

Providing information about treatment options for the anomaly

Question 22

Select the option that does not represent a category of congenital anomaly:

Accepted Answer

Hereditary

Answer

Structural

Answer

Functional

Answer

Metabolic

Question 23

Which of the following conditions exemplifies a chromosomal anomaly?

Accepted Answer

Trisomy 21

Answer

Multifactorial anomaly

Answer

Environmental anomaly

Answer

Teratogenic anomaly

Question 24

What is the central objective of managing congenital anomalies?

Accepted Answer

Early detection and intervention

Answer

Prevention

Answer

Cure

Answer

Palliative care

Question 25

Which of the following benefits is NOT associated with folic acid supplementation in preventing neural tube defects?

Accepted Answer

Prevention of heart defects

Answer

Reduced risk of spina bifida

Answer

Lowered risk of anencephaly

Answer

Decreased risk of cleft lip and palate

Question 26

Estimate the global prevalence of congenital anomalies:

Accepted Answer

1-3%

Answer

5-10%

Answer

15-20%

Answer

More than 20%

Question 27

Which of the following factors is a significant contributor to the development of congenital anomalies?

Accepted Answer

A combination of all the above

Answer

Genetic mutations

Answer

Environmental hazards

Answer

Maternal infections

Question 28

Among congenital heart defects, which one is most commonly encountered?

Accepted Answer

Ventricular septal defect

Answer

Atrial septal defect

Answer

Tetralogy of Fallot

Answer

Hypoplastic left heart syndrome

Question 29

What is the primary objective of prenatal screening tests?

Accepted Answer

Detection of fetuses with congenital anomalies

Answer

Determination of fetal sex

Answer

Monitoring of fetal growth

Answer

Diagnosis of genetic conditions

Question 30

What is the primary role of genetic counseling in the context of congenital anomalies?

Accepted Answer

A combination of all the above

Answer

Providing information on risks and implications

Answer

Facilitating informed decision-making

Answer

Offering support to families

Question 31

Which genetic mechanisms contribute to the development of congenital anomalies?

Accepted Answer

Structural chromosomal abnormalities

Accepted Answer

Numerical chromosomal abnormalities

Accepted Answer

Gene mutations

Answer

Environmental factors

Question 32

Which substance is known to cause neural tube defects during fetal development?

Accepted Answer

Valproic acid

Answer

Folic acid

Answer

Acetaminophen

Answer

Caffeine

Question 33

Identify the substance that is NOT a recognized teratogen capable of inducing congenital anomalies:

Accepted Answer

Folic acid

Answer

Alcohol

Answer

Thalidomide

Answer

Radiation

Question 34

Which of the following substances is NOT a known teratogen?

Accepted Answer

Folic acid

Answer

Thalidomide

Answer

Alcohol

Answer

Valproic acid

Question 35

The preferred diagnostic technique for the assessment of fetal anomalies is:

Accepted Answer

Ultrasound

Answer

X-ray

Answer

Amniocentesis

Answer

Magnetic resonance imaging (MRI)

Question 36

The most prevalent cause of neural tube defects is:

Accepted Answer

Folic acid deficiency

Answer

Alcohol consumption

Answer

Advanced maternal age

Answer

Maternal diabetes

Question 37

The overarching goal of preventive strategies for congenital anomalies is to:

Accepted Answer

Reduce the incidence and severity of birth defects

Answer

Provide early diagnosis and treatment

Answer

Eliminate all congenital anomalies

Answer

Educate healthcare providers

Question 38

Which of the following is the leading cause of neural tube defects?

Accepted Answer

Folic acid deficiency during the first trimester of pregnancy

Answer

Paternal alcohol consumption

Answer

Advanced maternal age

Answer

Maternal hyperglycemia

Question 39

A cleft lip is caused by a failure of which embryonic processes to fuse?

Accepted Answer

Maxillary and nasal processes

Answer

Vertebral bodies to segment

Answer

Frontal and parietal bones to ossify

Answer

Digits to separate

Question 40

Which of the following genetic conditions is NOT significantly associated with an elevated prevalence of congenital heart defects?

Accepted Answer

Cystic fibrosis

Answer

Turner syndrome

Answer

Edward syndrome

Answer

Down syndrome

Question 41

A congenital anomaly that arises from the interplay of both genetic and environmental factors is classified as:

Accepted Answer

Multifactorial

Answer

Chromosomal

Answer

Teratogenic

Answer

Environmental

Question 42

The most frequently occurring type of congenital heart defect is:

Accepted Answer

Ventricular septal defect

Answer

Coarctation of the aorta

Answer

Atrial septal defect

Answer

Tetralogy of Fallot

Question 43

Which of the following diagnostic imaging modalities is routinely used for prenatal detection of neural tube defects?

Accepted Answer

Ultrasound

Answer

X-ray

Answer

CT scan

Answer

MRI

Question 44

Management of congenital anomalies may involve:

Accepted Answer

Surgical intervention, medical therapy, or a combination of both

Answer

Surgery only

Answer

Medication only

Answer

No intervention

Question 45

A primary goal of prenatal screening for congenital anomalies is:

Accepted Answer

Early detection and timely intervention

Answer

Treatment

Answer

Prevention

Answer

Definitive diagnosis

Question 46

As maternal age increases, the risk of:

Accepted Answer

Congenital anomalies also increases

Answer

Paternal age also increases

Answer

Parity also increases

Answer

Sibling birth order also increases

Question 47

Which of the following is NOT typically considered a risk factor for congenital anomalies?

Accepted Answer

Maternal age under 25

Answer

Maternal obesity

Answer

Genetic predispositions

Answer

Prenatal exposure to teratogens

Question 48

Which type of congenital anomaly arises from an abnormal number of chromosomes?

Accepted Answer

Aneuploidy

Answer

Dysplasia

Answer

Malformation

Answer

Association

Question 49

Which congenital anomaly is characterized by an opening in the wall separating the heart's ventricles?

Accepted Answer

Ventricular septal defect

Answer

Neural tube defect

Answer

Cleft lip

Answer

Down syndrome

Question 50

Which of the following is considered a preventive measure for congenital anomalies?

Accepted Answer

Taking folic acid supplements before and during pregnancy

Answer

Consuming alcohol during pregnancy

Answer

Smoking during pregnancy

Question 51

Which imaging technique is routinely used to diagnose congenital anomalies during pregnancy?

Accepted Answer

Ultrasound

Answer

X-ray

Answer

CT scan

Answer

MRI

Question 52

Which of the following is a surgical procedure commonly used to treat congenital anomalies?

Accepted Answer

Cleft palate repair

Answer

Medication

Answer

Physical therapy

Answer

Behavioral therapy