Maternal-Fetal Medicine Practice Questions

Q: Which of the following tests is not used for the detection of specific aneuploidy?

Microarray. **Explanation:** The core of this question lies in distinguishing between **numerical** chromosomal abnormalities (aneuploidy) and **structural** sub-microscopic abnormalities (copy number variants). **Why Microarray is the correct answer:** Chromosomal Microarray (CMA) is designed to detect **microdeletions and microduplications** (Copy Number Variations - CNVs) that are too small to be seen under a microscope. While it can detect unbalanced rearrangements, it is **not** the primary tool for specific aneuploidy detection because it cannot detect balanced translocations or triploidy effectively. In clinical practice, if a specific aneuploidy (like Trisomy 21) is suspected, rapid molecular tests or karyotyping are preferred. **Why the other options are incorrect:** * **FISH (Fluorescent In Situ Hybridization):** Uses fluorescent probes to bind to specific chromosomes (13, 18, 21, X, Y). It is a rapid gold-standard test for detecting specific aneuploidies in interphase nuclei. * **QF-PCR (Quantitative Fluorescent PCR):** Amplifies polymorphic microsatellite markers. It is the fastest method (24–48 hours) specifically used to diagnose common autosomal and sex chromosome aneuploidies. * **Karyotyping:** The traditional "gold standard" that provides a visual representation of all chromosomes. It identifies both numerical (aneuploidy) and large structural abnormalities (>5-10 Mb). **Clinical Pearls for NEET-PG:** * **Rapid Aneuploidy Testing:** FISH and QF-PCR are the preferred methods for quick results (e.g., following an abnormal prenatal screen). * **Microarray Indication:** It is the **first-line investigation** for a fetus with one or more structural ultrasound abnormalities but a normal karyotype. * **Karyotyping Limitation:** It requires cell culture (takes 2–3 weeks), whereas molecular methods (QF-PCR/FISH) do not. * **Triploidy:** QF-PCR is superior to Microarray in detecting triploidy.

Q: Which of the following congenital anomalies is seen with maternal use of cocaine?

Cleft palate. **Explanation:** The correct answer is **C. Cleft palate.** **Mechanism of Action:** Cocaine is a potent sympathomimetic agent that acts as a powerful **vasoconstrictor**. It inhibits the reuptake of norepinephrine and dopamine at the presynaptic nerve terminals. In pregnancy, cocaine crosses the placenta and causes acute maternal and fetal hypertension and tachycardia. The primary mechanism for congenital anomalies is **vascular disruption**. Severe vasoconstriction leads to localized ischemia in developing fetal tissues, resulting in structural defects such as **cleft lip/palate**, segmental intestinal atresia, and limb reduction defects. **Analysis of Incorrect Options:** * **A. Sacral agenesis:** This is the most specific (pathognomonic) anomaly associated with **Maternal Diabetes Mellitus**, not cocaine use. * **B. Hydrops:** While cocaine can cause placental abruption or fetal growth restriction (FGR), it is not a classic cause of non-immune hydrops fetalis. Hydrops is more commonly associated with Rh isoimmunization, Parvovirus B19, or chromosomal anomalies. * **D. Hypertrichosis:** This (specifically synophrys/thick eyebrows) is a feature of **Fetal Alcohol Syndrome (FAS)** or certain genetic syndromes (e.g., Cornelia de Lange), but not cocaine exposure. **High-Yield Clinical Pearls for NEET-PG:** * **Most common complication:** Cocaine is most strongly associated with **Placental Abruption** (due to acute hypertension) and **IUGR/Fetal Growth Restriction**. * **Vascular Disruption Sequence:** Cocaine is linked to **Gastroschisis** and **Urinary tract anomalies** (e.g., prune belly syndrome) via the same ischemic mechanism. * **Neurobehavioral effects:** Neonates may present with irritability, tremors, and abnormal sleep patterns (often termed "Cocaine babies").

Q: A 25-year-old pregnant woman diagnosed with Rheumatic Heart Disease and Mitral Stenosis at 16 years of age presents at 6 weeks of gestation with a mitral valve area of 1.4 sq cm. She is currently in NYHA class 2 and on antiarrhythmic drugs. What is the risk of maternal mortality?

1.5 cm²) or **moderate** (Valve area 1.0–1.5 cm²) and the patient is asymptomatic or mildly symptomatic (NYHA Class I or II). * For mWHO Class II, the risk of maternal mortality is extremely low, typically **<1%**. Although she is on antiarrhythmics, her valve area (1.4 cm²) and functional status (NYHA II) do not place her in a high-risk category. 2. **Why incorrect options are wrong:** * **Options B, C, and D (5% to 50%):** These high mortality rates are associated with **mWHO Class IV** conditions. These include Severe Mitral Stenosis (Valve area <1.0 cm²), Pulmonary Arterial Hypertension (Eisenmenger syndrome), and severe systemic ventricular dysfunction (EF <30%). In such cases, mortality can range from 10% to 50%, and pregnancy is generally contraindicated. **High-Yield Clinical Pearls for NEET-PG:** * **Most common heart disease in pregnancy (India):** Rheumatic Heart Disease (RHD). * **Most common lesion in RHD:** Mitral Stenosis. * **Critical MS:** Valve area **<1.0 cm²**. This is mWHO Class IV and carries a high risk of pulmonary edema and mortality. * **Most dangerous period:** The immediate postpartum period (first 24–48 hours) due to "autotransfusion" from the involuting uterus and relief of IVC compression, leading to sudden fluid overload. * **Management:** Beta-blockers are the mainstay for rate control in MS to allow adequate diastolic filling.

Q: When shoulder pain develops in a case of tubal pregnancy, what does it indicate?

Severe internal bleeding. **Explanation:** The correct answer is **D. Severe internal bleeding.** In the context of a ruptured ectopic pregnancy, shoulder tip pain is a classic clinical sign known as **Danforth’s Sign**. This occurs due to massive intraperitoneal hemorrhage (hemoperitoneum). The blood accumulates in the subdiaphragmatic space, causing irritation of the **phrenic nerve** (C3, C4, C5). Because the phrenic nerve shares the same spinal cord segments as the supraclavicular nerves, the pain is referred to the shoulder (dermatomes C3-C4). This indicates a surgical emergency and significant blood loss. **Analysis of Incorrect Options:** * **A. Tubal abortion:** While this involves the expulsion of the products of conception through the fimbrial end and can cause bleeding, it is often gradual and may form a pelvic hematocele rather than the massive, rapid bleeding required to reach the diaphragm. * **B. Tubal mole:** This occurs when the ovum dies but remains in the tube, surrounded by layers of blood clot. It is usually a contained process and does not typically cause massive intraperitoneal hemorrhage. * **C. Broad ligament hematoma:** This occurs in an extraperitoneal rupture (between the leaves of the broad ligament). Since the blood is contained within the ligament and does not enter the general peritoneal cavity to touch the diaphragm, it will not cause shoulder pain. **High-Yield Clinical Pearls for NEET-PG:** * **Kehr’s Sign:** Similar referred shoulder pain, but classically associated with a **ruptured spleen**. * **Cullen’s Sign:** Periumbilical ecchymosis (bluish discoloration) indicating intraperitoneal hemorrhage; seen in ruptured ectopic pregnancy or acute pancreatitis. * **Golden Rule:** Any woman of reproductive age presenting with amenorrhea, abdominal pain, and fainting/syncope should be evaluated for ruptured ectopic pregnancy until proven otherwise.

Q: Maternal Alpha-fetoprotein is increased in which of the following conditions?

Neural tube defects. **Explanation:** **Alpha-fetoprotein (AFP)** is a glycoprotein synthesized by the fetal yolk sac and later by the fetal liver. It is the fetal equivalent of albumin. In a normal pregnancy, small amounts of AFP leak into the maternal circulation through the placenta. **Why Neural Tube Defects (NTDs) cause increased AFP:** In conditions like **Anencephaly** and **Open Spina Bifida**, there is a defect in the fetal skin or neural coverings. This allows AFP to leak directly from the fetal cerebrospinal fluid or exposed capillaries into the amniotic fluid, and subsequently into the maternal serum. Therefore, Maternal Serum AFP (MSAFP) is a primary screening tool for open NTDs. **Analysis of Incorrect Options:** * **Diabetes Mellitus:** Maternal diabetes is actually associated with **decreased** levels of MSAFP. The exact mechanism is unclear but may relate to delayed fetal growth or placental factors. * **Fetal Cardiac Defects:** These do not typically cause a breach in fetal integument; hence, AFP levels remain normal. * **Rubella Infection:** While intrauterine infections can cause various anomalies, they are not classically associated with elevated AFP. **High-Yield Clinical Pearls for NEET-PG:** * **Causes of Increased MSAFP:** Open NTDs, Multiple pregnancy (most common cause of "unexplained" elevation), Omphalocele, Gastroschisis, Renal anomalies (Finnish-type nephrosis), and Fetal demise. * **Causes of Decreased MSAFP:** Down Syndrome (Trisomy 21), Trisomy 18, Maternal Obesity, and Gestational Trophoblastic Disease. * **Screening Window:** MSAFP is ideally measured between **15–20 weeks** (Second Trimester). * **Next Step:** If MSAFP is elevated, the first step is a **Targeted Ultrasound** to confirm gestational age and rule out multiple pregnancies or visible defects.

Q: What is the appropriate management of seizures complicating hypertension during pregnancy?

Magnesium sulfate intravenously or intramuscularly as per Pritchard's regimen. **Explanation:** The occurrence of seizures in a patient with pre-eclampsia defines **Eclampsia**, an obstetric emergency. **1. Why Magnesium Sulfate (MgSO₄) is the Correct Answer:** Magnesium sulfate is the **drug of choice** for both the prevention and treatment of eclamptic seizures. Large-scale clinical trials (Collaborative Eclampsia Trial) proved it is superior to diazepam and phenytoin in preventing recurrent seizures and reducing maternal mortality. It acts by increasing the seizure threshold and causing cerebral vasodilation. The **Pritchard’s Regimen** (Intramuscular) and **Zuspan’s Regimen** (Intravenous) are the standard protocols used globally. **2. Why the Other Options are Incorrect:** * **Option B (Lytic Cocktail):** Historically used (Menon’s regimen), this combination causes significant maternal sedation and neonatal respiratory depression. It is now obsolete. * **Option C (IV Hydralazine):** This is an antihypertensive used to manage hypertensive crises (Systolic BP ≥160 or Diastolic BP ≥110 mmHg). While it controls blood pressure, it does **not** treat or prevent seizures. * **Option D (Benzodiazepines):** While benzodiazepines (like Diazepam) can stop an active seizure, they are associated with a higher rate of seizure recurrence and maternal/fetal depression compared to MgSO₄. **High-Yield Clinical Pearls for NEET-PG:** * **Therapeutic Range of MgSO₄:** 4–7 mEq/L. * **First Sign of Toxicity:** Loss of Patellar Reflex (Knee jerk) at 7–10 mEq/L. * **Respiratory Depression:** Occurs at >12 mEq/L. * **Antidote:** 10 ml of 10% **Calcium Gluconate** IV (administered over 10 minutes). * **Monitoring:** Always check urine output (>30ml/hr), respiratory rate (>12-14/min), and deep tendon reflexes before giving repeat doses.

Q: A 38-week pregnant woman delivered a baby without upper limbs. What is a possible cause?

Amniotic band. **Explanation:** The correct answer is **Amniotic Band Syndrome (ABS)**. This condition occurs due to the premature rupture of the amnion, leading to the formation of fibrous, sticky bands. These bands can entangle, constrict, or amputate developing fetal parts, most commonly the distal limbs and digits. When these bands encircle a limb early in gestation, they can lead to complete **congenital amputation** or transverse limb defects, explaining the absence of upper limbs in this neonate. **Analysis of Incorrect Options:** * **B. True knot of umbilical cord:** While a true knot can lead to fetal distress or intrauterine fetal death (IUFD) due to compromised blood flow, it does not cause structural limb defects or amputations. * **C. Genetic abnormality:** While certain genetic syndromes (like Roberts syndrome) can cause limb reduction defects (phocomelia), they are usually symmetrical and associated with other dysmorphic features. Amniotic band syndrome is typically **asymmetrical and sporadic**, making it a more classic cause for isolated limb absence in a non-syndromic presentation. **High-Yield Clinical Pearls for NEET-PG:** * **Pathogenesis:** The most widely accepted theory is the **Torpin Theory** (Exogenous theory), which suggests that amnion rupture leads to "entrapment" by fibrous bands. * **Clinical Presentation:** Look for "constriction rings" on limbs, pseudo-syndactyly (fused fingers), or asymmetric amputations. * **Associated Defects:** ABS is also linked to craniofacial clefts and body wall defects (e.g., gastroschisis) if the bands involve the head or abdomen. * **Risk Factors:** It is generally a **sporadic event** with a very low recurrence risk in subsequent pregnancies.

Q: What hormone is responsible for the decidual and Arias-Stella reaction in ectopic pregnancy?

Progesterone. **Explanation:** The correct answer is **Progesterone**. In an ectopic pregnancy, the body undergoes hormonal changes similar to a normal intrauterine pregnancy. The corpus luteum produces high levels of **progesterone**, which acts on the endometrium to prepare it for implantation. This leads to the **decidual reaction**—the transformation of endometrial stromal cells into large, lipid-rich polygonal cells. The **Arias-Stella reaction** is a specific histological change characterized by nuclear hypertrophy, hyperchromasia, and cytoplasmic vacuolation within the endometrial glands. It represents an exaggerated response of the endometrial glands to high levels of circulating progesterone. Importantly, these changes occur regardless of the location of the pregnancy (intrauterine or ectopic) because they are hormonally mediated. **Why other options are incorrect:** * **HCG (Human Chorionic Gonadotropin):** While HCG maintains the corpus luteum, it does not directly cause the decidual or Arias-Stella changes in the endometrial tissue. * **Estrogen:** Estrogen causes endometrial proliferation, but the secretory and decidual changes required for these reactions are specifically mediated by progesterone. * **HPL (Human Placental Lactogen):** HPL is involved in maternal metabolism and insulin resistance; it has no role in the morphological transformation of the endometrium. **High-Yield Clinical Pearls for NEET-PG:** * **Arias-Stella Reaction:** It is **not pathognomonic** for ectopic pregnancy; it can be seen in intrauterine pregnancies and gestational trophoblastic disease. * **Decidua without Villi:** On uterine curettage, the presence of decidua but the **absence of chorionic villi** is highly suggestive of an ectopic pregnancy (though not definitive). * The Arias-Stella reaction can sometimes be misdiagnosed as clear cell carcinoma due to its cellular atypia.

Question 1

Which of the following tests is not used for the detection of specific aneuploidy?

Accepted Answer

Microarray

Answer

FISH

Answer

Karyotyping

Answer

QF-PCR

Question 2

Which of the following congenital anomalies is seen with maternal use of cocaine?

Accepted Answer

Cleft palate

Answer

Sacral agenesis

Answer

Hydrops

Answer

Hypertrichosis

Question 3

A 25-year-old pregnant woman diagnosed with Rheumatic Heart Disease and Mitral Stenosis at 16 years of age presents at 6 weeks of gestation with a mitral valve area of 1.4 sq cm. She is currently in NYHA class 2 and on antiarrhythmic drugs. What is the risk of maternal mortality?

Accepted Answer

<1%

Answer

50%

Answer

15%

Answer

5%

Question 4

When shoulder pain develops in a case of tubal pregnancy, what does it indicate?

Accepted Answer

Severe internal bleeding

Answer

Tubal abortion

Answer

Development of a tubal mole

Answer

Development of a broad ligament hematoma

Question 5

Maternal Alpha-fetoprotein is increased in which of the following conditions?

Accepted Answer

Neural tube defects

Answer

Diabetes mellitus

Answer

Fetal cardiac defects

Answer

Rubella infection

Question 6

Which of the following is the most appropriate imaging modality to detect an abnormally located placenta?

Accepted Answer

Transvaginal Ultrasound (TVS)

Answer

Magnetic Resonance Imaging (MRI)

Answer

Doppler Ultrasound

Answer

Transabdominal Ultrasound (TAS)

Question 7

What is the appropriate management of seizures complicating hypertension during pregnancy?

Accepted Answer

Magnesium sulfate intravenously or intramuscularly as per Pritchard's regimen

Answer

Pethidine, promethazine, chlorpromazine as 'Lytic cocktail'

Answer

Intravenous Hydralazine

Answer

Lethal (Benzodiazepine) regimen

Question 8

A 38-week pregnant woman delivered a baby without upper limbs. What is a possible cause?

Accepted Answer

Amniotic band

Answer

True knot of umbilical cord

Answer

Genetic abnormality

Answer

None of the above

Question 9

Increased gestational period is associated with which congenital anomaly?

Accepted Answer

Anencephaly

Answer

Spina bifida

Answer

Meningomyelocele

Answer

Omphalocele

Question 10

What hormone is responsible for the decidual and Arias-Stella reaction in ectopic pregnancy?

Accepted Answer

Progesterone

Answer

HCG

Answer

Estrogen

Answer

HPL

Maternal-Fetal Medicine — MCQs

Maternal-Fetal Medicine — MCQs

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