A pregnant woman is referred for an ultrasound examination because of vaginal bleeding. The pregnancy length is 10.5 weeks’ gestational age. The crown–rump length (CRL) of the fetus is 37 mm, and the heart rate 170 bpm. A large echogenic filling at the umbilicus, with a diameter of 5 mm, is protruding into the umbilical cord. Which of the following is/are true?

• a)
  

  An echogenic filling in the umbilical cord is a sign of an early fetal tumour.

  
  
• b)
  

  This is most probably a gastroschisis, and further prenatal diagnosis and follow up should be offered and initiated.

  
  
• c)
  

  This is an early exomphalos, and the woman should be offered prenatal diagnosis, including karyotyping.

  
  
• d)
  

  The finding is typical for the physiological mid-gut herniation, and no further steps need to be taken.

  
  
• e)
  

  Bleeding into the embryonic and early fetal abdomen and umbilical region appear after a while as echogenic areas on the ultrasound image.

In most cases, spina bifida presents with an obvious irregularity of the spine, which should be sonographically detectable; however, its detection rate in the first trimester is still low, up to 20%. Some studies and reports have shed light on various aspects of the first-trimester diagnosis of this condition. Which of the following statements is/are correct regarding this?

• a)
  

  Spina bifida can be detected during the embryonic period at 9 weeks by using transvaginal ultrasound, because, in a number of cases, irregularity of the contours of the spine can be seen.

  
  
• b)
  

  As early as 10–12 weeks gestation, the characteristic ‘lemon’ and ‘banana’ signs develop and can be used as screening tools for detection of spina bifida. ‘Lemon shape’ of the head and ‘banana sign’ of the cerebellum are virtually pathognomonic signs of spina bifida throughout pregnancy.

  
  
• c)
  

  The internal translucency is a sonographic marker in the mid-sagittal plane of the fetal head, which identifies a wide fourth ventricle in normal fetuses compared with a compressed fourth ventricle in fetuses with spina bifida.

  
  
• d)
  

  A possible sonographic landmark for spina bifida during first trimester screening is identified in the axial scan plane of the head, namely a reduced Aqueduct-of-Sylvius-to-occiput-distance.

  
  
• e)
  

  A combination of decreased size of the biparietal diameter and increased alpha-fetoprotein and beta human chorionic gonadotropin seems to lead to an increased detection rate for spina bifida.

Which of the following conditions is/are associated with increased nuchal translucency?

• a)
  

  Development of intrauterine growth restriction.

  
  
• b)
  

  Chromosomal abnormalities, especially trisomies.

  
  
• c)
  

  Adverse perinatal outcome caused by dysplasias and disruptions.

  
  
• d)
  

  Genetic syndromes.

  
  
• e)
  

  Fetal heart defects.

An enlarged nuchal translucency with normal karyotype is associated with which of the following?

• a)
  

  Heart anomalies

  
  
• b)
  

  Genetic syndromes

  
  
• c)
  

  Male gender

  
  
• d)
  

  Low birthweight

  
  
• e)
  

  Miscarriage

Which of the following genetic syndromes is/are commonly associated with an increased nuchal translucency?

• a)
  

  Down syndrome

  
  
• b)
  

  Noonan syndrome

  
  
• c)
  

  Goldenhar syndrome

  
  
• d)
  

  Edwards syndrome

  
  
• e)
  

  Patau syndrome

A developmental delay after an enlarged nuchal translucency and normal follow-up scans is seen in about:

• a)
  

  1 %

  
  
• b)
  

  5%

  
  
• c)
  

  10%

  
  
• d)
  

  15%

  
  
• e)
  

  20%

Which of the following is/are true about the incidence and development of open neural tube defects (NTDs)?

• a)
  

  Folic acid supplementation has played the largest role in NTD prevention.

  
  
• b)
  

  The incidence of NTDs is well described and similar throughout the world.

  
  
• c)
  

  Rates of spina bifida are continuing to decline as fortification of the food supply is now mandated worldwide.

  
  
• d)
  

  Maternal and embryonic genes play a role in NTD development.

  
  
• e)
  

  Folic acid fortification should begin with 0.4 mg of folic acid as soon as a woman realises she is pregnant.

Which of the following is/are true about the screening and diagnosis of spina bifida?

• a)
  

  A maternal serum alpha-fetal protein (MSAFP) of 2.5 multiples of the median (MoM) is diagnostic of an NTD.

  
  
• b)
  

  First-trimester ultrasound screening for NTDs primarily involves identification of a normal posterior fossa during aneuploidy screening to rule out the presence of a Arnold-Chiari II malformation.

  
  
• c)
  

  Magnetic resonance imaging (MRI) has proven to be a better diagnostic tool for NTDs than ultrasound.

  
  
• d)
  

  The banana sign is indicative of ventriculomegaly, which is present in most cases of open NTDs.

  
  
• e)
  

  Diagnosis of lesion level requires three-dimensional ultrasound or MRI modalities.

Which of the following is/are true about the treatment of open NTDs?

• a)
  

  Postnatal myelomeningocele repair should be delayed as long as possible until the infant has demonstrated its ability to survive the neonatal period.

  
  
• b)
  

  Open fetal surgery for myleomeningocele has demonstrated benefit over postnatal repair.

  
  
• c)
  

  Open fetal surgery for the repair of myelomeningocele should be discussed as a therapeutic option with women who have a fetus with open spina bifida.

  
  
• d)
  

  Many women with a fetus affected by an open NTD will not qualify for open fetal surgery based on the MOMS trial selection criteria.

  
  
• e)
  

  Minimally invasive surgical approaches, such as fetoscopy, are safer and less painful than open fetal surgery for the repair of myelomeningocele.

Which of the following is/are true about pregnancy options and outcomes for open spina bifida?

• a)
  

  The severity of fetal ventriculomegaly seen on ultrasound has been shown to correlate with neonatal outcomes.

  
  
• b)
  

  Both short- and long-term outcomes of children and adults living with spina bifida have been reported.

  
  
• c)
  

  Prenatal counselling of outcomes in cases of open spina bifida is not possible given the variation in severity based on lesion level.

  
  
• d)
  

  Pregnancy termination rates are similar throughout the world.

  
  
• e)
  

  Many people living with spina bifida lead happy productive lives; however, outcomes are closely correlated to lesion level.

Which of the following is/are true about placenta previa?

• a)
  

  It is usually diagnosed in the first trimester of pregnancy.

  
  
• b)
  

  It is diagnosed in the third trimester, although it is more accurately detected in the second trimester of pregnancy.

  
  
• c)
  

  It cannot be diagnosed until the delivery.

  
  
• d)
  

  It is usually diagnosed by trans-abdominal ultrasound although trans-vaginal ultrasound has a good predictive accuracy.

  
  
• e)
  

  It can be suspected in the second trimester, although a definitive diagnosis is only possible in the third trimester of pregnancy.

Which of the following is/are true about prenatal diagnosis of the disorders of invasive placentation?

• a)
  

  It is not reliable.

  
  
• b)
  

  It can be carried out only in close proximity to the delivery.

  
  
• c)
  

  It usually undertaken with the use of magnetic resonance imaging.

  
  
• d)
  

  It is usually done with ultrasound and has a high predictive accuracy.

  
  
• e)
  

  It usually carried out with ultrasound but its predictive accuracy is low.

Which of the following is/are true about the different ultrasound signs of invasive placentation?

• a)
  

  Placental lacunae have the best specificity.

  
  
• b)
  

  Colour Doppler shows the best sensitivity.

  
  
• c)
  

  Abnormality of the bladder border is reliable only in cases of placenta accreta.

  
  
• d)
  

  Colour Doppler has the best specificity but its sensitivity is low.

  
  
• e)
  

  All the ultrasound signs are highly sensitive in the diagnosis.

Which of the following is/are true about placental chorioangioma?

• a)
  

  It is responsible for the occurrence of gestational diabetes in the mother.

  
  
• b)
  

  It is always associated with fetal distress.

  
  
• c)
  

  It is usually asymptomatic but potentially associated with cardiac failure in the fetus.

  
  
• d)
  

  It requires frequent intrauterine fetal transfusions.

  
  
• e)
  

  It is diagnosed only with magnetic resonance imaging.

Which of the following is/are true about vasa previa?

• a)
  

  They can lead to fetal hydrops.

  
  
• b)
  

  They are commonly diagnosed during the second trimester scan.

  
  
• c)
  

  They are commonly diagnosed at birth but rarely symptomatic.

  
  
• d)
  

  Prenatal diagnosis is rarely reported but it is associated with an improvement in perinatal outcome.

  
  
• e)
  

  They are diagnosed during the first trimester scan.

Which of the following is/are true about ultrasound and fetal genetic syndromes?

• a)
  

  A normal anatomic survey rules out a chromosomal syndrome.

  
  
• b)
  

  First-trimester nuchal translucency 3 mm or more is diagnostic of Down’s syndrome.

  
  
• c)
  

  Ultrasound is not a definitive diagnostic tool in the diagnosis of chromosomal syndromes.

  
  
• d)
  

  Third-trimester ultrasound should be used routinely as a screening tool for fetal anomalies.

  
  
• e)
  

  Three-dimensional ultrasound has consistently been shown to be superior to two-dimensional ultrasound for screening for fetal anomalies.

Which of the following genetic syndromes is/are correctly paired with one of their commonly associated ultrasound findings?

• a)
  

  Turner syndrome: cystic hygroma

  
  
• b)
  

  Cytomegalovirus: echogenic bowel

  
  
• c)
  

  Triploidy: severe intrauterine growth restriction

  
  
• d)
  

  Noonan syndrome: polyhydramnios

  
  
• e)
  

  Parvovirus: pyelectasis

On prenatal ultrasound, which of the following feature(s) characterise(s) gastroschisis?

• a)
  

  The abdominal wall defect is superior to cord insertion.

  
  
• b)
  

  Ectopia cordis is present.

  
  
• c)
  

  The abdominal wall defect is lateral to cord insertion.

  
  
• d)
  

  The abdominal wall defect is lower than cord insertion.

  
  
• e)
  

  The bladder cannot be visualised.

Which of the following is/are true about the prevalence of omphalocele?

• a)
  

  It has increased over the past 30 years.

  
  
• b)
  

  It has remained stable over the past 30 years.

  
  
• c)
  

  It has twice the prevalence of gastroschisis.

  
  
• d)
  

  It has decreased over the past 30 years.

  
  
• e)
  

  It is one-half the prevalence of gastroschisis.

Which of the following are true about Beckwith–Wiedemann syndrome?

• a)
  

  It is a growth disorder that can be associated with omphalocele.

  
  
• b)
  

  It is a growth disorder that can be associated with gastroschisis.

  
  
• c)
  

  It is only caused by mutations in the CDKN1C gene.

  
  
• d)
  

  It is always present in the family.

  
  
• e)
  

  It is only caused by paternal uni-parental disomy for chromosome 11p15.

Which of the following is/are true about cell-free fetal DNA?

• a)
  

  It can be detected in maternal blood throughout pregnancy.

  
  
• b)
  

  It comprises most of the cell free DNA in maternal plasma.

  
  
• c)
  

  It emanates from the placenta.

  
  
• d)
  

  It can be used to diagnose all fetal chromosome abnormalities.

  
  
• e)
  

  It can be analysed to determine fetal sex with more than 99% accuracy.

Which of the following is/are true about the status of the fetus as a patient?

• a)
  

  It is established from the development of a heartbeat.

  
  
• b)
  

  It is independent of the mother before viability.

  
  
• c)
  

  It is independent of the mother after viability.

  
  
• d)
  

  It is established only when the fetus achieves ‘personhood’.

  
  
• e)
  

  It places a moral duty on the attending clinician.

Which of the following is/are true about the fetus and its management before birth?

• a)
  

  It has independent legal status.

  
  
• b)
  

  There is a duty to respect its autonomy when deciding on management.

  
  
• c)
  

  Its best interests may override those of the mother.

  
  
• d)
  

  A decision to terminate the pregnancy allows that no treatment be provided to the baby if unexpectedly born alive.

  
  
• e)
  

  Procedures being offered as part of a randomised-controlled trial should be described to parents as experimental interventions, rather than treatment.

An isolated cleft lip may be formed due to failure of fusion of which of the following?

• a)
  

  Medial and lateral nasal processes.

  
  
• b)
  

  Maxillary and medial nasal processes.

  
  
• c)
  

  Endoderm.

  
  
• d)
  

  Ectodermal facial ridges.

  
  
• e)
  

  None of the above.

Three-dimensional ultrasound techniques for appropriate visualisation of the hard palate include:

• a)
  

  Septo-lingual view.

  
  
• b)
  

  ‘Equals sign’.

  
  
• c)
  

  Reverse face view.

  
  
• d)
  

  Flipped face view.

  
  
• e)
  

  Triangular view.

Which of the following is/are true about the development of the renal system in humans?

• a)
  

  The urogenital system develops from the intermediate mesoderm.

  
  
• b)
  

  Human kidney is developed from metanephros renal system.

  
  
• c)
  

  The mesonephric duct gives rise to some reproductive organs in female fetuses, and degenerates in males.

  
  
• d)
  

  Urine production starts early around 10 weeks of gestation, and becomes the major contributor to the amniotic fluid from about 14 weeks gestation.

  
  
• e)
  

  The nephrons continue to grow in number during infancy.

Which of the following is/are true about ultrasonic imaging of the fetal kidney?

• a)
  

  Normal kidneys and bladder can only be visible on scan after 18 weeks.

  
  
• b)
  

  Persistent absence of the bladder filling should be considered as abnormal from 15 weeks.

  
  
• c)
  

  The kidney size is directly proportional to gestational age.

  
  
• d)
  

  Oligohydramnios can be found even at 10 weeks.

  
  
• e)
  

  Fetal adrenal glands can sometimes occupy the renal fossae in the case of renal agenesis.

Which of the following is/are true about renal agenesis and dysplastic kidneys?

• a)
  

  The incidence of renal agenesis is between 0.1 and 1 per 1000 births.

  
  
• b)
  

  It is commonly an isolated finding.

  
  
• c)
  

  Unilateral renal agenesis can be suspected by the size of the contralateral kidney.

  
  
• d)
  

  Dysplastic kidneys are often of abnormal size.

  
  
• e)
  

  Unilateral involvement is generally associated with severe oligohydramnios and has a poor prognosis.

Which of the following is/are true about polycystic kidney disease?

• a)
  

  Infantile polycystic kidney disease is autosomal recessive in inheritance.

  
  
• b)
  

  Infantile polycystic kidney disease can be diagnosed confidently from a 20-week scan.

  
  
• c)
  

  Adult type polycystic kidney disease is the most common cystic disease in pregnancy.

  
  
• d)
  

  In adult type polycystic kidney disease, the onset of renal cysts varies from the fetal to neonatal period.

  
  
• e)
  

  Extra renal cyst formation is common in infantile polycystic kidney disease.

Which of the following is/are true about upper and lower urinary tract dilatation?

• a)
  

  Upper urinary tract dilatation is mainly caused by transient urine flow impairment.

  
  
• b)
  

  The normal renal pelvis cannot be visualised unless the antero-posterior diameter of the renal pelvis is greater than 5 mm.

  
  
• c)
  

  The incidence of pelvi-ureteric junction is 1 in 2000.

  
  
• d)
  

  Fetal bladder diameters greater than 17 mm in the first trimester are likely caused by obstructive factors.

  
  
• e)
  

  Lower urinary tract obstruction is more common among females.