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Fetal Medicine- sample MCQs

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1. With regard to the routine anomaly scan in pregnancy, what threshold of nuchalfold measurement should trigger a referral to a fetal medicine specialist?

2. A woman with a monochorionic diamniotic (MCDA) twin pregnancy at 25 weeks of gestation has been diagnosed with severe twin-to-twin transfusion syndrome (TTTS) and has been referred to the regional centre. What is the recommended first-line management, assuming no contraindications to any treatment?

Laser ablation of placental vesselsRadiofrequency ablation of placental vesselsSelective amnioreductionSelective feticide via cord coagulationSeptostomy

3. A woman presents to the obstetric triage unit with reduced fetal movements at 27 weeks of gestation. She has a monochorionic twin pregnancy. A CTG is performed. It is normal in the presenting twin but shows a bradycardia in twin

Both twins have a cephalic presentation. Preparations are made for emergency delivery, but during this time in the antenatal ward, the fetal heart of twin 2 stops. An ultrasound examination confirms the absence of a fetal heartbeat in twin 2. What is the most appropriate action?Administer steroids and commence induction of labour when appropriateAdminister steroids and deliver by caesarean section when appropriateContinue with a category 1 caesarean sectionPostpone delivery and perform a detailed ultrasound scan after 4 weeksPostpone delivery and perform fetal MRI after 4 weeks

4. A woman is referred from the antenatal clinic with reduced fetal movements at 29 weeks of gestation. Computerised CTG (cCTG) is normal with a short-term variation (STV) of 8 ms. Ultrasound shows an estimated fetal weight plotting below the 10th centile, with reversed end-diastolic flow in the umbilical artery. Middle cerebral artery (MCA) Doppler and ductus venosus Doppler are normal. She was given a course of steroids 2 weeks previously for a threatened preterm labour. What is the recommended management?

Category 2 caesarean sectionDaily CTG and deliver if STV is <5 msDaily Dopplers and deliver if ductus venosus becomes abnormalDaily Dopplers and deliver if MCA Doppler becomes abnormalImmediate induction of labour

6. For any potentially sensitising event, rhesus D-negative, previously non-sensitised women should receive a minimum dose of 500 IU anti-D immunoglobulin (Ig) intramuscularly within 72 hours of the event, regardless of whether the woman has already received routine antenatal anti-D Ig prophylaxis at 28 weeks. Any additional dose of anti-D Ig needed is guided by a test of maternal blood for fetomaternal haemorrhage. The dose calculation is based on which formula?

100 IU anti-D Ig/ml of fetal red blood cells125 IU anti-D Ig/ml of fetal red blood cells150 IU anti-D Ig/ml of fetal red blood cells175 IU anti-D Ig/ml of fetal red blood cells200 IU anti-D Ig/ml of fetal red blood cells

7. What is the optimum method of screening for chromosomal abnormality in a monochorionic twin pregnancy at 13 weeks of gestation?

8. A high level of vitamin A intake in the first trimester of pregnancy may be harmful to the fetus and poses a risk of teratogenicity. What is the recommended upper limit of daily intake of vitamin A in early pregnancy?

9. From which gestational age is cell-free fetal DNA present in reliably measurable levels for aneuploidy screening?

10. A pregnant woman has just had her 20-week anomaly scan. There is no obvious fetal anomaly seen on the scan but the umbilical cord contains only two blood vessels. What further management would you like to recommend?

Amniocentesis for karyotyping.Reassure.Referral to tertiary fetal medicine unit.Third trimester growth scan and neonatal cranial scan.Third trimester growth scan and neonatal renal and cardiac scan. An isolated single umbilical artery does not warrant invasive testing for fetal aneuploidy, but consider third trimester ultrasonography for fetal growth

11. The airport authorities are on the phone. A woman has refused to go through the airport body scanner as she is seven weeks pregnant and worried about fetal radiation exposure. What would be your advice?

Advise body scanning with shield protection.Advise allowing the woman to pass without body scanning at this gestation.Advise the woman to rearrange her journey if possible to later in her pregnancy.Advise hand-held scanner to avoid fetal exposure.Reassure the woman. The Health Protection Agency (HPA) concludes that the potential doses received from the use of a correctly installed and used X-ray backscatter body scanner are likely to be very low and are unlikely to exceed 20 micro- Sv/year.14 For the pregnant women, the advice is ‘the backscatter technology ensures that negligible doses are absorbed into the body, the fetal dose is thus much lower than the dose to a pregnant woman. The radiation levels of such machines is equivalent to two minutes of air travel. Emission levels are 10 000 times lower than that of a mobile phone

12. A 26-week pregnant woman is referred for an ultrasound scan after she presented with an episode of reduced fetal movements. The fetal Doppler assessment shows middle cerebral artery peak velocity multiple of the mean (MoM) at 2 and mild fetal ascites. You noted that her booked blood results show anti-K antibodies level of 2 IU/mL. What is the most appropriate management?

Arrange for daily ultrasound assessments.Arrange for daily cardiotocography (CTG).Arrange for delivery by Caesarean section.Arrange for fetal blood sampling and/or transfusion.Arrange for weekly ultrasound assessments. For anti-K antibodies, referral should take place once detected, as severe fetal anaemia can occur even with low titres. Refer to a fetal medicine specialist for invasive treatment if the middle cerebral artery peak velocity rises above 1.5 MoM or if there are other signs of fetal anaemia. Red cell preparations for intrauterine transfusion should be group O (low titre haemolysin) or ABO identical with the fetus (if known) and negative for the antigen(s) corresponding to maternal red cell antibodies.

13. A pregnant woman with MCDA twins has just had a scan at 21 weeks in the fetal medicine unit. Twin 1’s estimated weight is 40% less than the estimated weight for twin 2, and is diagnosed with sacral agenesis and right diaphragmatic hernia. No obvious anomaly is seen in twin 2 and it’s growth and amniotic fluid are normal. What is the management option you would like to offer her?

Expectant management.Selective fetocide with intracardiac potassium choloride for twin 1.Selective fetocide with cord occlusion for twin 1.Termination of the pregnancy.Weekly growth and Doppler scans. In MCDA twins, the structural abnormality affects only one twin in 80% of cases. Anomalies such as anencephaly or diaphragmatic hernia are typically complicated by polyhydramnios and place the normal co-twin at risk of severe preterm delivery owing to uterine distension. In monochorionic twins, selective feticide by intracardiac potassium chloride cannot be used owing to the vascular anastomoses between the two fetoplacental circulations. Cord occlusive techniques by interstitial laser, bipolar diathermy or ligation are the only ‘selective’ option for feticide in monochorionic twin pregnancies. These procedures carry a significant risk 15.Fetal kidney b.Fetal stomach c.Fetal esophagus d.Fetal bladder e.Fetal ureters In polyhydramnios, prenatal diagnosis of oesophageal atresia is suspected when repeated ultrasonographic examinations fail to demonstrate the fetal stomach.7 Routine symphysiofundal height (SFH) measurement is a sound method for detecting small-for-gestational-age babies in developing countries and may be recommended as standard practice.9 A ‘double bubble’ sign is a sonographic feature of duodenal atresia.

14. A woman has had her first trimester combined risk calculated as 1:50. Chorionic villus sampling is offered and accepted. An uncomplicated procedure is performed and she is informed that the first result will be within 72 hours. What type of test is usually used to give the first cytogenetic result?

Array comparative genomic hybridization (CGH).Fluorescence in situ hybridization (FISH).Karyotyping.Microarray comparative genomic hybridization (aCGH).Quantitative fluorescent polymerase chain reaction (QF-PCR). QF-PCR marker analysis does not require cell culture whereas karyotyping does. PCR results can be available within 48–72 hours. The results are nearly 100% accurate. PCR testing usually only looks for three specific defined chromosomal conditions in the fetus: trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome) and trisomy 13 (Patau syndrome)

15. A 36-year-old woman with a BMI of 19 kg/m2 has become pregnant following a successful second attempt at in vitro fertilization. She is healthy but smokes 5–10 cigarettes a day. The 19-week anomaly scan did not show any obvious abnormality. What further management would you like to recommend?

Growth and Doppler scans at 36 weeks.Middle cerebral artery Doppler scan at 24 weeks.Serial growth and Doppler scans from 28 weeks.Serial symphysiofundal measurements.Uterine artery Doppler scan at 20–24 weeks Women who have three or more minor risk factors for a small-for-gestationalage (SGA) baby should be referred for a uterine artery Doppler scan at 20–24 weeks of gestation. Women with an abnormal uterine artery Doppler scan at 20–24 weeks (defined as a pulsatility index [PI] >95th centile) and/or notching should be referred for serial ultrasound measurements of fetal size and assessment of well-being with umbilical artery Doppler scans commencing at 26–28 weeks of pregnancy. Women with three minor risk factors and a normal uterine artery Doppler scan require third trimester growth and umbilical artery Doppler scans during the third trimester. Risk factors for SGA

16. A 25-year-old has just had her 20-week scan. The fetus is found to have holoprosencephaly and bilateral cleft palate. The cardiac ultrasound scan shows a ventricular septal defect. Which of the following is most likely to be associated with these ultrasound scan findings?

Down syndrome.DiGeorge syndrome.Edward syndrome.Patau syndrome.Turner syndrome. Patau syndrome. Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation). Cleft lip or cleft palate. Difficulty gaining weight. Extra fingers or toes (polydactyly). Ears forming low on the head. Growth abnormalities in the arms and legs. Low muscle tone (hypotonia). Small head and lower jaw. Very small, close together or underdeveloped eyes.

17. The screening has shown you a result of a combined test for a 19-year-old woman. It reads as follows: bHCG: 0.2 MoM PAPP-A: 0.3 MoM NT: 2.5 mm Risk of Down syndrome: 1:170. What will be your next step?

Book a growth scan.Offer chorionic villus sampling to exclude Down syndrome.Repeat the blood test for confirmation.The woman to be sent a letter confirming a low risk.The woman should be counselled about Edward and Patau syndromes The woman should be seen by a fetal medicine consultant because her pregnancy is at high risk of trisomy 13 and 18. The cut-off risk for Down syndrome is 1 in 150, above which a diagnostic test should be offered.5 In the screening programmes, markers’ levels are described in multiples of the median (MoM) to allow for the fact that levels vary with gestational age.1 The calculation of risk using a combined test includes maternal age, nuchal translucency measurement, beta-human chorionic gonadotropin (BhCG) and placental-associated plasma protein (PAPP-A) levels.1 The calculation of risk using a quadruple test includes BhCG, uE3 (unconjugated estriol), alpha-fetoprotein (AFP) and inhibin-A.1 The biochemical markers of the common aneuploidies

18. A woman attends the antenatal clinic for her 18–20-week scan. The sonographer has demonstrated ‘lemon and banana’ sign and the baby is diagnosed with Arnold–Chiari syndrome. What is the ‘banana’ sign?

Congenitally malformed thalamus.Deformed cerebellum.Deformed skull.Malformed cerebellum.Open spina bifida. The ‘lemon’ and ‘banana’ signs describe the cranial features seen on ultrasound that are associated with spina bifida. The Arnold–Chiari malformation (type II) is a descent of the cerebellum, pons and medulla through the foramen magnum, leading to obliteration of the cisterna magna. Prune belly syndrome: lower urinary tract obstruction with an enlarged bladder, bilateral hydronephrosis and reduced amniotic fluid. It is associated with high mortality from pulmonary hypoplasia.

19. A pregnant woman has just had her 20-week anomaly scan. Her baby is diagnosed with ventricular septal defect and its femur length is at the 5th centile. What is the most appropriate next step?

Offer serial growth scans.Offer delivery arrangements at a tertiary hospital.Offer amniocentesis.Offer termination of the pregnancy for ground E.Offer a repeat of the cardiac scan at 32 weeks. Up to 44% of congenital heart lesions are associated with anomalies in one or more body systems. There is a strong association between congenital heart disease and aneuploidy (35%–48%). Amniocentesis should be offered to exclude an associated chromosomal Abnormality

20. A pregnant woman complaining of reduced fetal movements at 26 weeks is referred for an ultrasound scan. The scan shows fetal hydrothorax, ascites and massive skin oedema. She is rhesus positive and all her antibody tests are negative. What is the proportion of this condition as a cause of perinatal mortality?

1%.3%.5%.8%.10%. Non-immune hydrops fetalis (NIHF) is an uncommon condition accounting for around 3% of overall perinatal mortality. With the decline in rhesus isoimmunisation, non-immunological causes have become responsible for the majority of fetal hydrops. The major causes of NIHF are chromosomal abnormality, structural cardiovascular disease, cardiac dysrhythmias, abnormalities of the fetal thorax, haematological disorders and infections.

21. Which of the following has autosomal recessive inheritance

Marfans syndromeAchondroplasiaCystic fibrosisHemophilia Cystic fibrosis is an autosomal recessive disease, caused by mutations of a gene on chromosome 7 which encodes for a chloride channel in the membranes of epithelial cells. Reduced chloride conductance results in viscid secretions and organ damage in the respiratory and reproductive tracts and the pancreatic and hepatobiliary ducts. Life expectancy is reduced and the main cause of death is respiratory failure due to progressive bronchiectasis and persistent lung infections.

22. Which of following has mitochondrial inheritance

MELASTay Sach disease c.Duchenne Muscular dystrophySpinal muscular atrophy Mitochondrial Diseases - include Leighs syndrome, MELAS, MIDD, MERRF, NARP & LHON. It is also possible (although less likely) that mitochondrial DNA disease might have happened sporadically.

23. Consanguinity shows a strong association with which pattern of inheritance? a.Autosomal dominant

Autosomal recessiveX-linked dominantX-linked recessive The consanguineous marriages have 2.9 times increased risk of developing Autosomal Recessive disorders. On the other hand, nonconsanguineous marriages were significantly related to chromosomal abnormality with increased risk of 6.36

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