The following statement(s) is/are true about reproductive decisions after fetal genetic counselling:

• a)
  

  Genetic counselling is characterised as offering two choices to prospective parents: to continue or terminate the pregnancy.

  
  
• b)
  

  Genetic counseling is also characterised by a full description of testing modalities, their advantages and disadvantages, their risks and benefits, the meaning and consequences of testing results.

  
  
• c)
  

  Directive genetic counselling is professionally acceptable in order to meet established community standards of care.

  
  
• d)
  

  Genetic counselling has as its principle philosophy the requirement that health professionals support the decision of prospective parents regardless of their reproductive decision.

  
  
• e)
  

  Genetic counselling must be tailored to the individual couple, given the multifaceted factors influencing reproductive decision-making.

Reproductive decisions after genetic counselling for carrier screening is characterised by:

• a)
  

  Uniformity both nationally and internationally for the genetic panel comprising the mutations in the cystic fibrosis gene.

  
  
• b)
  

  Testing with an Ashkenazi Jewish panel even if only one member of a couple is of Ashkenazi parentage.

  
  
• c)
  

  Reducing the risk of being a carrier but not eliminating the possibility of being a carrier despite genetic testing.

  
  
• d)
  

  Standard carrier screening of prospective parents involves the genetic disorders: cystic fibrosis, spinal muscular atrophy and fragile X syndrome.

  
  
• e)
  

  Standard carrier screening of prospective parents involves the genetic disorder fragile X syndrome.

Genetic counselling after first-trimester screening for Down’s syndrome:

• a)
  

  Is based on ultrasound evaluation of nuchal translucency, best measured at 12 weeks’ gestation, and of maternal proteins, pregnancy-associated plasma protein and human chorionic gonadotropin, best measured at 9–10 weeks’ gestation.

  
  
• b)
  

  Compares age-related risks and risks to a 35-year-old with first-trimester screening risks for Down’s syndrome and trisomies 13 and 18.

  
  
• c)
  

  Provides reassurance that trisomy 21 is not present, with a 95% reliability.

  
  
• d)
  

  Provides reassurance that trisomies 13 and 18 are not present, with a 95% reliability.

  
  
• e)
  

  Includes informing prospective parents that chromosome abnormalities other than Down’s syndrome and trisomies 13 and 18 may or may not be identified.

Reproductive decisions following fetal genetic counselling for prenatal diagnosis:

• a)
  

  Have been critically analysed to identify and distinguish why prospective parents accept or reject invasive diagnostic testing.

  
  
• b)
  

  Is determined in large part on the internationally established obstetric risks associated with invasive testing.

  
  
• c)
  

  Assures risks for invasive testing are internationally very similar and comparable.

  
  
• d)
  

  Requires that prospective parents agree to terminate an affected pregnancy before undergoing invasive testing.

  
  
• e)
  

  Is not premised on assuring the birth of a normal child following genetic testing of the fetus.

The following procedures are carried out for fetal-cell sampling:

• a)
  

  Free-fetal DNA sampling.

  
  
• b)
  

  Fetal-blood sampling.

  
  
• c)
  

  Chorionic villus sampling.

  
  
• d)
  

  Maternal alpha feto-protein.

  
  
• e)
  

  High cervical swab.

When feto–maternal conflicts arise, the healthcare professional has beneficence obligations to which of the following:

• a)
  

  To the mother.

  
  
• b)
  

  To the fetus.

  
  
• c)
  

  To both mother and fetus.

  
  
• d)
  

  To the father.

  
  
• e)
  

  To terminate the pregnancy where there is threat to maternal life.

Healthcare professionals’ duties of care entail:

• a)
  

  Deciding on patient treatment and administering the same regardless of informed consent.

  
  
• b)
  

  Protection of life and health of the patient.

  
  
• c)
  

  Respect for the patient’s autonomy.

  
  
• d)
  

  Acting unjustly depending on prevailing circumstances.

  
  
• e)
  

  Taking decisions that are in the best interests of the patient when the patient’s competence is in doubt.

Which of the following is/are important to discuss regarding fetal diagnostic tests:

• a)
  

  Diagnostic accuracy.

  
  
• b)
  

  The possibility of failed testing.

  
  
• c)
  

  The purpose of the test.

  
  
• d)
  

  Disclosure of information.

  
  
• e)
  

  Options for action post-test.

What is/are important ethical consideration(s) in assessing proposed fetal gene therapy:

• a)
  

  The nature and seriousness of the disorder.

  
  
• b)
  

  The stage of development of the fetus.

  
  
• c)
  

  The consent of the mother.

  
  
• d)
  

  The prospects of a successful therapeutic outcome.

  
  
• e)
  

  Paternal consent.

For a couple carrying autosomal recessive disease the following is/are true?

• a)
  

  The risk of an affected child is 25%.

  
  
• b)
  

  The risk of a carrier child is 50%.

  
  
• c)
  

  The risk of the child being a carrier or affected is 100%.

  
  
• d)
  

  The chance of the child not being affected or a carrier is 50%.

  
  
• e)
  

  The risk of inheriting the disease reduces for each subsequent child if the previous one was unaffected.

Which of the following is/are current indication(s) for pre-implantation genetic screening:

• a)
  

  Advanced maternal age.

  
  
• b)
  

  Repeated implantation failure.

  
  
• c)
  

  Repeated pregnancy loss.

  
  
• d)
  

  Severe male-factor infertility.

  
  
• e)
  

  Sporadic miscarriage.

The following combinations of anatomical structures should be reliably visualised in most fetuses by ultrasound by 14 weeks:

• a)
  

  Bladder, stomach, femur, corpus callosum.

  
  
• b)
  

  Bladder, stomach, umbilical cord insertion, choroid plexuses.

  
  
• c)
  

  Stomach, bladder, cerebellum, palate.

  
  
• d)
  

  Stomach, bladder, feet, gender.

  
  
• e)
  

  Stomach, bladder, cardiac outflow tracts.

Which of the following structural malformations is/are NOT reliably detectable in the first trimester?

• a)
  

  Gastroschisis.

  
  
• b)
  

  Megacystis.

  
  
• c)
  

  Acrania.

  
  
• d)
  

  Bilateral renal agenesis.

  
  
• e)
  

  Holoproscencephaly.

Megacystis diagnosed before 14 weeks gestation is associated with karyotypic abnormalities in what proportion of cases:

• a)
  

  Less than 1% of cases.

  
  
• b)
  

  20% of cases overall.

  
  
• c)
  

  50% of cases overall.

  
  
• d)
  

  50% of cases if the megacystis is characterised as severe.

  
  
• e)
  

  80% of cases if the megacystis is characterised as severe.

The following statement(s) describing fetal gender determination on ultrasound is/are correct:

• a)
  

  Fetal gender can never be determined before 14 weeks gestation.

  
  
• b)
  

  The best method to determine fetal gender are coronal views of the genital area.

  
  
• c)
  

  The genital tubercle is easily visualised at 6 weeks gestation.

  
  
• d)
  

  Fetal gender can be assigned in the first trimester by measurement of the angle of the genital tubercle to the lumbosacral skin surface.

  
  
• e)
  

  Fetal gender can be assigned as male if the genital tubercle angle is less than 10°.

The following statement(s) is/are true about rhesus disease (RhD):

• a)
  

  Administration of anti-D immunoglobulin to rhesus-negative pregnant women at times of potential sensitisation has decreased the incidence of rhesus disease.

  
  
• b)
  

  Fetal RhD status can only be diagnosed by fetal blood sampling.

  
  
• c)
  

  Intrauterine transfusion is only considered when fetal hydrops is present.

  
  
• d)
  

  Intrauterine transfusion is easier early in gestation, as only small amounts of blood are required.

  
  
• e)
  

  Intrauterine transfusions are successful in 97% of cases and severe complications occur in 3% of cases.

The following statement(s) about fetal minimally invasive procedures is/are true:

• a)
  

  Antenatal valvuloplasty for severe congenital aortic stenosis is aimed at improving fetal survival until birth.

  
  
• b)
  

  A randomised-controlled trial has shown fetoscopic laser coagulation of placental anastomoses to be the best treatment for severe mid-trimester twin-to-twin transfusion syndrome.

  
  
• c)
  

  Microcystic congenital cystic adenomatoid malformations of the lung leading to fetal hydrops are best treated with thoraco-amniotic shunting.

  
  
• d)
  

  Preterm premature rupture of the membranes and preterm labour are the main complications of fetoscopic tracheal occlusion.

  
  
• e)
  

  All fetal pleural effusions should be drained antenatally to improve neonatal survival.

The aim(s) of gene transfer is/are to:

• a)
  

  Correct a metabolic aberration in cells through delivery of a protein.

  
  
• b)
  

  Reduce the expression of an abnormal gene by preventing transcription.

  
  
• c)
  

  Deliver stem cells to correct a metabolic aberration.

  
  
• d)
  

  Deliver a normal gene to cells to replace the aberrant protein.

  
  
• e)
  

  Deliver a gene to rectify the genotype.

In the human fetus, immune competence is acquired with:

• a)
  

  The recognition of foreign antigens at 20 weeks of gestation.

  
  
• b)
  

  The ability to react to self-antigens presented to central immune organs.

  
  
• c)
  

  The ability to react to self-antigens presented to peripheral immune organs.

  
  
• d)
  

  The recognition of foreign antigens presented to the peripheral immune organs.

  
  
• e)
  

  The ability to react to foreign antigens presented at 14 weeks of gestation.

The goal(s) of fetal gene therapy include(s):

• a)
  

  Pre-emptively treating a genetic disease.

  
  
• b)
  

  Preventing the development of irreversible tissue damage.

  
  
• c)
  

  Facilitating the delivery of sufficient vector doses to achieve therapeutic effect.

  
  
• d)
  

  Improvement in basic tissue function in the absence of a genetic aberration.

  
  
• e)
  

  Changing genetic protein expression to prevent damage.

Diseases unsuitable for intrauterine gene therapy include:

• a)
  

  Thalassaemia.

  
  
• b)
  

  Mucopolysaccharidoses.

  
  
• c)
  

  Cystic fibrosis.

  
  
• d)
  

  Congestive cardiac failure.

  
  
• e)
  

  Systemic lupus erythomatosis.

The main barrier(s) to successful stem-cell engraftment after intrauterine stem-cell therapy (IUSCT) include:

• a)
  

  Haemopoetic competition from host cells.

  
  
• b)
  

  Availability of space within bone-marrow niches.

  
  
• c)
  

  Immune defense mechanisms of host.

  
  
• d)
  

  The need to deliver stem cells prior to the development of immune competence at 14 weeks.

  
  
• e)
  

  Fetal cells being less amenable to vector transduction.

The advantages of IUHSCT over postnatal haemopoietic stem-cell therapy (HSCT) include:

• a)
  

  The potential to circumvent the host immune barrier to facilitate engraftment.

  
  
• b)
  

  The greater feasibility of scaling up cell titres to achieve therapeutic effect.

  
  
• c)
  

  Achievement of micro-chimerism to facilitate donor-specific tolerance.

  
  
• d)
  

  The fact that the earlier the disease is treated the better the long term outcome.

  
  
• e)
  

  Fetal cells have greater capacity or responsiveness and healing than adult cells.

Which of the following statement(s) is/are correct concerning invasive procedures?

• a)
  

  Well-designed, robust studies have long shown that pregnancy loss after amniocentesis is 1 in 200 or greater.

  
  
• b)
  

  Chorionic villus sampling (CVS) is a relatively easy procedure to master and can be independently offered clinically after 20 practice (e.g. before pregnancy termination) procedures.

  
  
• c)
  

  Pregnancy loss after CVS is significantly higher than that after mid-trimester amniocentesis.

  
  
• d)
  

  The frequency of limb reduction defects (LDR) after CVS is increased when the procedure is carried out before 9 weeks gestation.

  
  
• e)
  

  If CVS cannot be carried out at 13 weeks, early amniocentesis is an attractive alternative.

Detection of trisomy 21 by combining maternal serum analysis and fetal ultrasound markers:

• a)
  

  Has equal sensitivity in women of all ages.

  
  
• b)
  

  Achieves sensitivity equal to that achieved by an invasive diagnostic procedure (e.g. amniocentesis).

  
  
• c)
  

  Has been shown in Colorado to significantly reduce the incidence of trisomy 21 births, compared with a period of time when only invasive procedures were available and offered to women aged 35 years at delivery.

  
  
• d)
  

  Is more sensitive by second-trimester methods alone than by first-trimester methods alone.

  
  
• e)
  

  Provide highest detection rates by combining first- plus second-trimester screening.

Cell-free fetal DNA:

• a)
  

  Is detected in maternal blood in a minority of pregnancies.

  
  
• b)
  

  Constitutes about 5% of total cell-free DNA in maternal blood, the remainder being of maternal origin.

  
  
• c)
  

  Would be a trustworthy test in maternal blood to determine whether a fetus had inherited a mutant allele from a mother with Marfan syndrome.

  
  
• d)
  

  Is widely available clinically for detection of fetuses and trisomy 21.

  
  
• e)
  

  Is being pursued more aggressively than intact fetal-cell analysis because diagnostic possibilities are more limited in the latter.

The most suitable fetal-nucleated cells present in maternal blood for non-invasive prenatal diagnosis are:

• a)
  

  Trophoblast cells.

  
  
• b)
  

  Haematopoietic stem cells.

  
  
• c)
  

  Fetal nucleated red blood cells.

  
  
• d)
  

  CD34 ⁺ leukocytes.

  
  
• e)
  

  Amniocytes.

Absolute fetal-specific globin chains present in the first trimester fetal-nucleated red blood cell (FNRBCs) contain:

• a)
  

  Zeta-globin (ζ) chains.

  
  
• b)
  

  Epsilon-globin (ε) chains.

  
  
• c)
  

  Gamma-globin (γ) chains.

  
  
• d)
  

  Alpha-globin (α) chains.

  
  
• e)
  

  Beta-globin (β) chains.

Which of the following statement(s) is/are true of micromanipulation of FNRBCs:

• a)
  

  It requires expertise and special equipment to perform.

  
  
• b)
  

  Cells are micro-dissected using a laser beam and catapulted into collection tubes.

  
  
• c)
  

  Cell loss can occur during transfer because it is not carried out under direct vision.

  
  
• d)
  

  The method has successfully been used to diagnose Duchenne’s muscular dystrophy, Rhesus D and haemoglobinopathies.

  
  
• e)
  

  FNRBCs collected by this method cannot be used to diagnose fetal gender.

Surface-antigen(s) on the first trimester FNRBCs that can be used for enrichment include(s):

• a)
  

  Transferrin receptor (CD71).

  
  
• b)
  

  Glycophorin-A (GPA).

  
  
• c)
  

  Lymphocyte common antigen (CD45).

  
  
• d)
  

  Erythropoietin receptor (EPO-r).

  
  
• e)
  

  Monocyte differentiation antigen (CD14).