Congenital Anomalies — MCQs
Which of the following statements about encephalocoele is false?
Esophageal atresia may occur as a part of VACTERL group of anomalies. What does 'TE' stand for?
Which of the following does not complicate into CHF –
Most specific cardiac anomaly seen in baby born to Diabetic Mother
The commonest type of congenital heart disease is –
All of the following are clinical features suggestive of tracheoesophageal fistula except -
Which of the following is not a cause of neonatal anaemia?
Which one of the following life-threatening congenital anomalies in the newborn presents with polyhydramnios, aspiration pneumonia, excessive salivation and difficulty in passing a nasogastric tube?
18 weeks pregnant female presents with no high risk of NTD and low risk of trisomy 21 on quad test. What is the most appropriate next step in management?
A 5-day-old infant is diagnosed with a non-communicating hydrocephalus. Which of the following is most likely to lead to such a condition?
Congenital Anomalies Indian Medical PG Practice Questions and MCQs
Question 1: Which of the following statements about encephalocoele is false?
- A. It is a neural tube defect
- B. Common in the parietal region (Correct Answer)
- C. Can be associated with hydrocephalus
- D. It is protrusion of neural tissue through a defect
Explanation: ***Common in the parietal region*** - This statement is **false** because encephaloceles are **rarely found in the parietal region** (only 10-15% of cases). - **Occipital encephaloceles** are most common in Western populations (75-80%), while **frontal/sincipital encephaloceles** are most common in Southeast Asia including India (40-60%). - **Parietal encephaloceles** represent only a small minority of cases globally, making this statement incorrect. *It is a neural tube defect* - **Encephalocele** is indeed a type of **neural tube defect (NTD)**, resulting from incomplete closure of the neural tube during embryonic development. - Specifically, it involves a defect in the skull that allows for protrusion of brain tissue and/or meninges. *Can be associated with hydrocephalus* - **Hydrocephalus**, or the accumulation of cerebrospinal fluid in the brain, is a known complication and associated condition with encephaloceles. - The abnormal brain development and structural defects can disrupt normal CSF flow and absorption, particularly with posterior encephaloceles. *It is protrusion of neural tissue through a defect* - This is the defining characteristic of an **encephalocele**: the **herniation of intracranial contents**, such as brain tissue, meninges, or both, through a congenital **bony defect** in the skull. - The contents of the sac can vary (meninges only = meningocele; brain tissue included = meningoencephalocele), influencing clinical presentation and prognosis.
Question 2: Esophageal atresia may occur as a part of VACTERL group of anomalies. What does 'TE' stand for?
- A. Tracheo-esophageal fistula (Correct Answer)
- B. Thoracic empyema
- C. Talipes equinovarus
- D. Tetralogy of Fallot
Explanation: ***Tracheo-esophageal fistula*** - The 'TE' in **VACTERL** stands for **Tracheo-Esophageal fistula**, which is a common congenital anomaly associated with esophageal atresia. - This condition involves an abnormal connection between the **trachea** and the esophagus, often leading to feeding difficulties and respiratory complications. *Thoracic empyema* - **Thoracic empyema** is an accumulation of pus in the pleural cavity, typically a complication of pneumonia or chest trauma. - It is an acquired condition and not a congenital anomaly part of the **VACTERL** association. *Talipes equinovarus* - **Talipes equinovarus**, also known as **clubfoot**, is a congenital deformity of the foot. - While it is a congenital anomaly, it is represented by the 'L' (Limb defects) in the **VACTERL** association, not 'TE'. *Tetralogy of Fallot* - **Tetralogy of Fallot** is a complex congenital heart defect involving four specific abnormalities. - This condition is represented by the 'C' (Cardiac defects) in the **VACTERL** association, as it's a type of cardiac anomaly.
Question 3: Which of the following does not complicate into CHF –
- A. Patent ductus arteriosus
- B. Transposition of great vessels
- C. Coarctation of aorta
- D. Tetralogy of Fallot (Correct Answer)
Explanation: ***Tetralogy of Fallot*** - This condition is characterized by **right-to-left shunting** due to a large ventricular septal defect (VSD) and right ventricular outflow tract obstruction, leading to **cyanosis** rather than heart failure. - The right ventricular hypertrophy and pulmonary stenosis in Tetralogy of Fallot actually **protect the pulmonary circulation** from volume overload, thus reducing the risk of CHF. *Patent ductus arteriosus* - A PDA causes a **left-to-right shunt** from the aorta to the pulmonary artery, increasing pulmonary blood flow and leading to **pulmonary hypertension** and eventually **left ventricular volume overload**, which can lead to CHF. - The continuous flow through the PDA can cause **volume overload** on the left ventricle and a subsequent increase in cardiac work leading to heart failure. *Transposition of great vessels* - In TGV, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle, creating **two parallel circulations**. Complete TGV without a septal defect is incompatible with life. - If a VSD is present, it can lead to **volume overload** of the left ventricle and pulmonary hypertension, increasing the risk of CHF. *Coarctation of aorta* - This is a narrowing of the aorta, typically distal to the left subclavian artery, causing **increased afterload** on the left ventricle. - The increased workload and pressure overload on the left ventricle can lead to **left ventricular hypertrophy** and ultimately **heart failure**.
Question 4: Most specific cardiac anomaly seen in baby born to Diabetic Mother
- A. Ventricular septal defect
- B. Heart blocks
- C. Tetralogy of Fallot
- D. Transposition of Great arteries (Correct Answer)
Explanation: ***Transposition of Great arteries*** - **Transposition of the great arteries (TGA)** is the most specific congenital heart defect associated with infants born to mothers with **pre-gestational diabetes**. - Poor glycemic control in the first trimester of pregnancy is a significant risk factor for the development of TGA. *Ventricular septal defect* - **Ventricular septal defect (VSD)** is the most common congenital heart defect overall, but it is not specific to diabetic mothers, as its occurrence is common in the general population. - While VSDs can occur in infants of diabetic mothers, they are less characteristic of this population compared to TGA. *Heart blocks* - **Congenital heart blocks** are most commonly associated with **maternal autoimmune diseases**, such as Systemic Lupus Erythematosus (SLE), due to the transplacental transfer of anti-Ro/SSA and anti-La/SSB antibodies. - They are not a specific cardiac anomaly linked to maternal diabetes. *Tetralogy of Fallot* - **Tetralogy of Fallot** is a complex congenital heart defect involving four anomalies, but it is not specifically or disproportionately linked to maternal diabetes compared to other congenital heart defects. - Its etiology is multifactorial, with genetic and environmental factors playing roles.
Question 5: The commonest type of congenital heart disease is –
- A. ASD
- B. PDA
- C. TOF
- D. VSD (Correct Answer)
Explanation: ***VSD*** - **Ventricular Septal Defect (VSD)** is the most common type of **congenital heart disease**, accounting for approximately 25-30% of all congenital heart defects. - It involves a hole in the septum separating the **ventricles**, leading to a **left-to-right shunt** of blood. *ASD* - **Atrial Septal Defects (ASDs)** are common but less frequent than VSDs, typically accounting for about 10% of congenital heart defects. - ASDs involve a hole in the septum separating the **atria**, also causing a **left-to-right shunt**. *PDA* - **Patent Ductus Arteriosus (PDA)** is another common congenital heart defect, but it is less prevalent than VSD, accounting for around 5-10% of cases. - PDA is the persistence of the fetal **ductus arteriosus**, allowing blood to flow from the **aorta to the pulmonary artery**. *TOF* - **Tetralogy of Fallot (TOF)** is a complex cyanotic congenital heart defect, representing about 5-7% of all congenital heart diseases. - It is characterized by four distinct anomalies: **pulmonary stenosis**, **ventricular septal defect**, **overriding aorta**, and **right ventricular hypertrophy**.
Question 6: All of the following are clinical features suggestive of tracheoesophageal fistula except -
- A. Fever (Correct Answer)
- B. Choking and Coughing
- C. Regurgitation
- D. Cyanosis
Explanation: ***Fever*** - **Fever is NOT a primary clinical feature** of tracheoesophageal fistula (TEF) itself. - While fever might occur as a **complication** if aspiration pneumonia develops, it is not a direct presenting sign of TEF. - The classic presentation of TEF occurs in **newborns within hours of birth** and involves the "3 Cs" - not fever. *Choking and Coughing* - Part of the classic **"3 Cs" triad** (Choking, Coughing, Cyanosis) of TEF presentation. - Occurs during the **first feeding attempt** when milk enters the trachea through the abnormal fistulous connection. - This is a **cardinal diagnostic feature** that should immediately raise suspicion for TEF. *Regurgitation* - **Immediate regurgitation** of feeds is characteristic, especially in TEF with esophageal atresia (most common type - Type C). - The **blind-ending proximal esophageal pouch** prevents normal passage of saliva and feeds, causing regurgitation. - Often accompanied by **excessive drooling and frothy secretions** from the mouth and nose. *Cyanosis* - The third component of the **"3 Cs" triad** and a key clinical feature. - Results from **aspiration of feeds or saliva** into the trachea and lungs, causing acute respiratory distress. - May also occur from **laryngospasm** as a protective reflex when fluid enters the airway.
Question 7: Which of the following is not a cause of neonatal anaemia?
- A. Subgaleal Hemorrhage
- B. Abruptio placentae
- C. Wilson's Disease (Correct Answer)
- D. Diamond Blackfan syndrome
Explanation: ***Wilson's Disease*** - Wilson's disease is a disorder of **copper metabolism** that typically manifests later in childhood or adolescence with **hepatic**, **neurological**, or **psychiatric symptoms**, not neonatal anemia. - While it can cause hemolytic anemia in older individuals due to copper toxicity, it is not a recognized cause of **neonatal anemia**. *Subgaleal Hemorrhage* - A subgaleal hemorrhage is a significant collection of blood in the **subgaleal space** of the scalp, which can lead to substantial **blood loss** and subsequent **neonatal anemia** due to a large potential space. - This type of hemorrhage is often associated with **vacuum extraction** or other traumatic deliveries. *Abruptio placentae* - **Abruptio placentae** involves the premature separation of the placenta from the uterine wall, leading to **fetal-maternal hemorrhage** and sometimes significant **fetal blood loss**. - This acute blood loss in the fetus can manifest as severe **neonatal anemia** at birth. *Diamond Blackfan syndrome* - **Diamond Blackfan syndrome** is a congenital red cell aplasia characterized by a failure of **red blood cell production** in the bone marrow. - This condition presents with severe **macrocytic anemia** early in infancy, often requiring transfusions.
Question 8: Which one of the following life-threatening congenital anomalies in the newborn presents with polyhydramnios, aspiration pneumonia, excessive salivation and difficulty in passing a nasogastric tube?
- A. Choanal atresia
- B. Gastroschisis
- C. Diaphragmatic hernia
- D. Tracheo-esophageal fistula (Correct Answer)
Explanation: ***Tracheo-esophageal fistula*** - This condition presents with **polyhydramnios** due to the fetus being unable to swallow amniotic fluid, **excessive salivation** from accumulated secretions in the blind-ending esophageal pouch, and difficulty passing a **nasogastric tube** because of the esophageal obstruction. - **Aspiration pneumonia** is a common complication as saliva and gastric contents can be aspirated into the lungs through the fistula. *Choanal atresia* - Characterized by **blocked nasal passages**, leading to **cyclical cyanosis** relieved by crying, but not typically associated with polyhydramnios or excessive salivation in this manner. - While it can cause respiratory distress, it does not involve esophageal obstruction or directly cause aspiration pneumonia from swallowed fluids. *Gastroschisis* - This is an **abdominal wall defect** where intestines protrude outside the body, unrelated to swallowing difficulties, polyhydramnios caused by inability to swallow, or excessive salivation. - It does not involve difficulty in passing a nasogastric tube or directly cause aspiration pneumonia. *Diaphragmatic hernia* - Involves **abdominal contents herniating into the chest cavity**, leading to **pulmonary hypoplasia** and respiratory distress. - It does not explain polyhydramnios due to impaired swallowing, excessive salivation, or the characteristic inability to pass a nasogastric tube.
Question 9: 18 weeks pregnant female presents with no high risk of NTD and low risk of trisomy 21 on quad test. What is the most appropriate next step in management?
- A. Repeat non-invasive screening test.
- B. Perform invasive diagnostic testing.
- C. Perform amniotic fluid analysis.
- D. Perform a detailed fetal ultrasound. (Correct Answer)
Explanation: ***Perform a detailed fetal ultrasound.*** - A **detailed fetal ultrasound** (often referred to as an **anatomy scan**) at around 18-22 weeks is a standard component of prenatal care for all pregnant women, regardless of screening test results. - This ultrasound evaluates fetal anatomy for structural anomalies, assesses fetal growth, and confirms gestational age, providing crucial information even with low-risk screening. *Repeat non-invasive screening test.* - Repeating a non-invasive screening test (like another quad screen or NIPT) is generally **not indicated** when initial results show a low risk and there are no other clinical concerns. - Such tests are primarily for screening purposes, and a second low-risk result would offer little additional actionable information, as their positive predictive value is low. *Perform invasive diagnostic testing.* - **Invasive diagnostic testing**, such as **amniocentesis** or **chorionic villus sampling (CVS)**, carries a risk of miscarriage and is reserved for situations with a high risk of chromosomal abnormalities or genetic conditions. - Given the low-risk quad screen results for trisomy 21 and no high risk for NTDs, invasive testing is **not warranted** at this stage. *Perform amniotic fluid analysis.* - **Amniotic fluid analysis** is part of an amniocentesis, an **invasive diagnostic procedure** designed to detect chromosomal abnormalities or genetic disorders. - This procedure is typically reserved for cases where screening tests indicate a high risk or there is a clinical suspicion of a genetic condition; it's **not a routine step** after a low-risk quad screen.
Question 10: A 5-day-old infant is diagnosed with a non-communicating hydrocephalus. Which of the following is most likely to lead to such a condition?
- A. Disturbances in the resorption of cerebrospinal fluid
- B. Excess production of cerebrospinal fluid
- C. Obstruction in the circulation of the cerebrospinal fluid (Correct Answer)
- D. Increased size of the head
Explanation: ***Obstruction in the circulation of the cerebrospinal fluid*** - **Non-communicating hydrocephalus**, by definition, is caused by an **obstruction within the ventricular system** that prevents CSF from reaching the subarachnoid space. - In a newborn, common causes of such obstruction include **aqueductal stenosis** or malformations like **Dandy-Walker syndrome**. *Disturbances in the resorption of cerebrospinal fluid* - This typically leads to **communicating hydrocephalus**, where CSF can flow freely within the ventricles but is not adequately absorbed into the venous system. - Examples include **arachnoid granulations** dysfunction or **post-meningitic scarring**. *Excess production of cerebrospinal fluid* - This is a very rare cause of hydrocephalus, usually associated with conditions like a **choroid plexus papilloma**. - This would lead to a **communicating hydrocephalus** as the obstruction is not within the ventricular system itself. *Increased size of the head* - An **increased head size (macrocephaly)** is a *symptom* or *sign* of hydrocephalus in an infant, not a cause. - The elevated intracranial pressure from the accumulated CSF leads to the expansion of the skull bones before the sutures fuse.
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