SELF-ASSESSMENT

Self-Assessment Questions
Questions

1. The cisterna magna has been obliterated and the cerebellum

is banana-shaped. The cranium is bullet-shaped, and the
ventricles measure 12 mm at the posterior horn.

Question 1
Answer true or false.
The minimum UK standard for detailed scanning includes the
following:

2. The head circumference is above the 97th centile, and only

one single large and central ventricle can be seen. There is
only a thin rim of cortex and no midline echo. The face is
very abnormal, with a single eye and midline proboscis
where the nose should be.

1. Measurement of cerebral ventricular size.

2. Visualisation of the fetal lips.
3. Imaging of the umbilical cord insertion at the abdominal
wall.
4. Delineation of the cardiac outflow tracts.
5. Counting fetal digits.

3. This is the surviving 34-week fetus of a monochorionic twin

pair following intrauterine fetal death at 24 weeks of the cotwin. There is a right-sided echolucent area within the
cerebral tissue that is in continuation with the ventricle.

Question 2
Answer true or false.
With regard to antenatal ultrasound screening for fetal
abnormalities:

4. The cisterna magna is grossly enlarged, giving the appearance of a cyst within the posterior fossa. The cerebellar
vermis is deficient, and there is wide separation of the
cerebellar hemispheres.
5. There is a defect of the cranium in the occipital region, with
herniation of cerebral tissue through the defect and
associated hydrocephalus.

1. The Eurocat study demonstrated a greater than 80%

detection rate for most major abnormalities.
2. Detection of anomalies is superior at 21 weeks compared
with 19 weeks gestation.
3. The RADIUS trial showed improved perinatal outcomes in
the group undergoing routine detailed scanning.
4. Neurological abnormalities are detected with a greater
sensitivity than congenital cardiac anomalies.
5. More than 40% of all major structural abnormalities should
be detectable at an 1114-week ultrasound scan.

Question 4
Answer true or false.
Genetic polymorphisms:
1. Are the origin of biological variability.
2. Can be used to track the inheritance of disease-causing
mutations.
3. Can lie within the coding sequences of genes.
4. Are most useful in prenatal diagnosis if they lie close to the
gene of interest.
5. Are the cause of various skeletal dysplasias.

Question 3
(A)
(B)
(C)
(D)
(E)
(F)
(G)
(H)
(I)
(J)
(K)
(L)
(M)
(N)
(O)

DandyWalker malformation
Encephalocoele
Ventriculomegaly
Choroid plexus cysts
ArnoldChiari malformation
Agenesis of the corpus callosum
Mega cisterna magna
Anencephaly
Holoprosencephaly
Schizencephaly
Dolicocephaly
Arachnoid cyst
Lissencephaly
Porencephaly
Microcephaly

Question 5
Answer true or false.
The following genetic diseases are caused by enzyme
deficiencies:
1.
2.
3.
4.
5.

Question 6
Answer true or false.
Preimplantation genetic diagnosis has been used to prevent a
recurrence of the following conditions:

Match each of the following ultrasound scan descriptions with

the most appropriate diagnosis/definition from the list above.
Each option can be used once, more than once or not at all.

1.
2.
3.
4.
5.

Alec McEwan Fetal and Maternal Medicine, Division of Obstetrics and

Gynaecology, Queens Medical Centre, Nottingham, UK

OBSTETRICS, GYNAECOLOGY AND REPRODUCTIVE MEDICINE 17:1

MeckelGruber syndrome
Gauchers disease
Phenylketonuria
Congenital adrenal hyperplasia
BeckwithWiedemann syndrome

28

Unbalanced chromosome translocations

Sickle cell disease
Neural tube defects
Duchenne muscular dystrophy
Holoprosencephaly

r 2007 Elsevier Ltd. All rights reserved.

SELF-ASSESSMENT

Question 7
Answer true or false.
With regard to the late reproductive effects of cancer
treatment:

with anomalies is improved by antenatal detection has been

slow to accumulate.

1. Spermatogenesis is more seriously impaired than testosterone production by radiation exposure.

2. The uterus is most vulnerable to radiation-induced damage
in the prepubescent period.
3. Chemotherapy has a more detrimental effect on ovarian
function in young girls.
4. Female ovarian reserve can be accurately predicted by
follicular-phase follicle-stimulating hormone levels.
5. Cryopreservation of ovarian tissue and oocytes is now
widely offered to women facing cancer treatments that are
toxic to the ovary.

1. E
This collection of abnormalities is called the ArnoldChiari
malformation and is almost always found with neural tube
defects. Herniation of the hindbrain toward the foramen
magnum obliterates the cisterna magna and causes the
curvature of the cerebellum.
2. I
Holoprosencephaly can be classified as lobar, semilobar or
alobar depending on the degree of division of the cerebral
hemispheres. There are multiple aetiologies, including
chromosomal and single-gene disorders.
3. N
Vascular connections between a monochorionic twin pair
mean that if one twin dies in utero, the surviving co-twin is
at risk of ischaemic damage that may occur secondary to
hypotension. In watershed areas of the brain, this ischaemic
damage may later be evident on ultrasound or magnetic
resonance imaging as a porencephalic cyst.
4. A
This collection of abnormalities is known as the DandyWalker malformation (or variant, if they are less obvious).
Again, there are multiple aetiologies. The developmental
outcomes are variable but often poor.
5. B
Encephalocoeles most commonly affect the occipital region
of the fetal cranium, but all other aspects of the skull may be
involved. The outcome depends on the site and degree of
cerebral herniation. Encephalocoeles may be isolated or
form part of a syndrome (e.g. MeckelGruber).

Answer 3

ANSWERS
Answer 1
1.
2.
3.
4.
5.

True
False
True
False
False

Although all of these assessments are ideal on a routine

detailed scan, only the posterior horns of the cerebral ventricles
and the umbilical cord insertion need to be examined as part of
the minimum standard. Failure to examine the outflow tracts of
the fetal heart seriously limits the number of serious cardiac
abnormalities that can be detected antenatally.

Answer 4

Answer 2
1.
2.
3.
4.
5.

1.
2.
3.
4.
5.

False
True
False
True
True

Genetic polymorphisms are variations in the genetic code

that do not affect biological characteristics and do not cause
genetic disease. They vary significantly between individuals,
and a pattern of polymorphisms may be associated with a
disease-causing mutation, meaning that they can be used to
track its progress through a family pedigree. Polymorphisms
lying close to the gene of interest are most reliable for prenatal
diagnosis as they are less likely to be separated from the
mutation during crossing-over. Genes themselves may contain
polymorphisms.

Eurocat showed that only anencephaly and gastroschisis

were detected more than 80% of the time by routine antenatal
scanning. Nine other major anomalies were detected with only
a 5279% sensitivity. Twenty-one weeks gestation is a better
gestation for the detection of fetal anomalies when compared
with earlier gestations, and neurological anomalies are consistently detected more reliably than cardiac abnormalities.
However, early scanning with high-specification ultrasound
machines can nevertheless detect as many as 50% of all major
abnormalities in experienced hands.
The RADIUS trial concluded that routine scanning did not
improve perinatal outcome, in contrast to the Helsinki trial.
Both these trials are old and now considered to be out of date.
Although routine scanning has been widely adopted within
standard prenatal care, the evidence that the outcome for babies

OBSTETRICS, GYNAECOLOGY AND REPRODUCTIVE MEDICINE 17:1

False
True
True
True
False

Answer 5
1. False
2. True
3. True

29

r 2007 Elsevier Ltd. All rights reserved.

SELF-ASSESSMENT

4. True
5. False

tions can also be detected using this technique. Multifactorial

conditions (e.g. neural tube defects) and those with multiple
aetiologies (e.g. holoprosencephaly) usually cannot.

The genetic cause of MeckelGruber syndrome (polycystic

kidneys, encephalocoele, polydactyly) is still unclear, although
progress is being made and it is not caused by an enzyme
deficiency. BeckwithWiedemann syndrome is caused by
alterations in gene-dosage effects at chromosome 11p15, a
heavily imprinted region of the genome that contains the genes
for various growth factors. Congenital adrenal hyperplasia is
mostly caused by deficiency of 21-hydroxylase in the adrenal
gland, phenylketonuria by phenylalanine hydroxylase deficiency, and Gauchers disease (a lysosomal storage disorder)
by deficiency of glucocerebrosidase.

Answer 7
1.
2.
3.
4.
5.

The germinal epithelium (and therefore spermatogenesis) is

more sensitive to radiotherapy-induced damage than are the
Leydig cells (and therefore testosterone production). The
prepubertal testis is most at risk of cytotoxic damage, and the
prepubertal uterus is particularly sensitive to radiation-induced
damage. The effects of chemoradiotherapy on fertility and
ovarian function are more pronounced in older women, who
have a smaller pool of primordial follicles remaining. Although
elevated levels of follicular-phase follicle-stimulating hormone
may well indicate reduced ovarian reserve, they cannot be used
to precisely predict the onset of the menopause. Unfortunately,
successes with cryopreservation of oocytes and ovarian tissue
remain very limited. Storage of embryos after in vitro
fertilisation can be offered but may cause difficulties if the
woman later chooses to start a family with a different partner.

Answer 6
1.
2.
3.
4.
5.

True
True
False
True
False

Single-gene disorders such as sickle cell disease and

Duchenne muscular dystrophy are usually amenable to
preimplantation genetic diagnosis if the mutations are known.
The unbalanced products of parental chromosomal transloca-

OBSTETRICS, GYNAECOLOGY AND REPRODUCTIVE MEDICINE 17:1

True
True
False
False
False

30

r 2007 Elsevier Ltd. All rights reserved.