Diagnosis

of Foetal
Health
Learning objectives …
• Describe how an ultrasound is used to diagnose foetal health
• Outline the limitations of using an ultrasound to diagnose foetal health
• Describe how amniocentesis is used to obtain foetal cells for genetic analysis
• List some of the disorders that can be detected by amniocentesis
• Give possible risks of using amniocentesis to diagnose foetal health
• Describe how chorionic villus sampling (CVS) is used to obtain foetal cells for genetic analysis
• Outline the advantages of CVS over amniocentesis
• Give possible risks and disadvantages of using CVS to diagnose foetal health
• Outline the purpose and limitations of maternal blood tests
• Describe how a sample of foetal blood is collected and then used to monitor foetal
development
• Give possible risks from foetal blood sampling
 To maintain a healthy pregnancy, a
woman needs to ensure that she has
regular medical checks to monitor
Diagnosis her health and that of the baby.
of Foetal 1. A prenatal screening test will
show whether the pregnancy is
Health at ‘increased risk’ of producing a
child with a birth defect, ie.,
blood test and ultrasound.
 2. A diagnostic test can identify a
condition and is very accurate,
Diagnosis i.e., amniocentesis and chorionic
villus sampling.
of Foetal As there is an increased risk of miscarriage,
Health these tests are generally offered only to women
identified in the screening test as being at risk of
having a child with birth defect or genetic
condition.
 Find out early if there could be problems
First with the pregnancy:
Trimester • Blood Test – between 9-13 weeks
Prenatal • Ultrasound – between 11-13 weeks
Screening
 • An ultrasound provides an image of
the baby in-utero.
• A gel is applied to the abdomen.
• The ultrasound probe moves over the
What is an abdomen allowing sound waves to
ultrasound? pass from the ultrasound probe into
the uterus.
• An ultrasound image is produced by
the reflection of the sound waves off
the baby.
Ultrasound
• Measurement taken
of the thickness of
the fluid in the area
behind the baby’s
neck, called the
nuchal translucency.
• Normal ranges is 1.1-
3.0mm. In a baby
with Down syndrome
this area is often
larger.
Ultrasound
• Also take
measurements of the
crown-rump length
to calculate
gestational age.
Captioned version available online: https://www.youtube.com/watch?v=NQffB6RcXjs
The images produced by an ultrasound can be used to monitor the
growth and development of the foetus:
• Confirming pregnancy
• Estimating the stage of the pregnancy
• Determining the number of foetuses
• Identifying abnormalities of the cervix or uterus
• Monitoring the growth of the foetus
• Determining the gender of the foetus
• Evaluating the anatomy of the foetus
• Studying the placenta and amniotic fluid
• Identifying birth defects
• Determining the position of the foetus
 While foetal ultrasound is a safe
technique for gaining valuable
information, it has its limitations:
Ultrasound - • It cannot diagnose all abnormalities.
Limitations • If an abnormality is detected, further
tests may be required for more specific
information.
 • Purpose: Tests for hormone
concentrations (free B-hCG and PAPP-
A). In a woman whose baby has a
serious chromosome problem, the
Maternal levels of these hormones will differ.
Blood Tests • Screens for: Down syndrome, Edwards
syndrome, Patau syndrome, Turner
syndrome
 • A diagnostic test is used to confirm
chromosome abnormality such as Down
Syndrome or an inherited condition in the
baby.
Diagnostic • Decide to have a diagnostic test if:
Tests • Had a previous pregnancy with Down Syndrome
or another birth defect
• Been given an ‘at increased risk’ result from a
first or second trimester screening test
• A family history of a genetic condition
 • Chorionic villus sampling (CVS) –
between 11 and 14 weeks
Diagnostic
• Amniocentesis – between 15 and
Tests 18 weeks
Chorionic Villus
Sampling (CVS)
This procedure involves:
• A needle, guided by ultrasound, is
inserted through the mother’s
abdomen to take a sample of
chorionic villus cells from the
placenta.
• This sample of foetal cells is then
tested for missing, extra or
abnormal chromosomes.
Captioned version available online: https://www.youtube.com/watch?v=jWZYTbYTycg
CVS
• Risks: small risk of
miscarriage (2%)
• Tests for: genetic
disorders and biochemical
abnormalities, but it
cannot diagnose spina
bifida
Amniocentesis
This procedure involves:
• A needle, guided by ultrasound, is
inserted through the mother’s
abdomen to take a small sample,
approximately 10-20ml, of amniotic
fluid from around the baby.
• Living cells from the foetus are
floating in the fluid and these cells
can be examined for biochemical
defects and for abnormalities in the
number of chromosomes or in the
chromosome structure.
Captioned version available online: https://www.youtube.com/watch?v=bZcGpjyOXt0
 • Risks: small risk of infection, miscarriage or
damage to the baby
• Tests for: Down syndrome, cystic fibrosis,
Amniocentesis neural tube defects such as spina bifida, and
a wide-range of genetic disorders (PKU, Tay-
Sachs, Duchenne muscular dystrophy and
sickle cell disease)
 Amniocentesis v CVS
Amniocentesis: CVS:
• Later in pregnancy which • Earlier in pregnancy, so higher
decreases risks. risk of miscarriage
• Wider range of disorders to test • Foetal tissue can be tested more
for. quickly, thus reducing time
between the testing and
examination of results. This is
especially important if a birth
defect is involved that may
require termination of the
pregnancy.
Foetal Blood
Sampling
Tests for:
• Chromosomal abnormalities
• Check foetal oxygenation
• Diagnose foetal anaemia
• Identify infections
• Give medications
Foetal Blood
Sampling
Foetal blood taken from:
• The umbilical cord via percutaneous
umbilical cord blood sampling
(PUBS), where a needle is inserted
through the abdominal wall and
uterus into the umbilical vein.
Foetal Blood
Sampling
Foetal blood taken from:
• A foetal blood vessel, usually the
liver or heart, via a fetoscope.
• A fetoscope is an instrument used
gain information about a foetus in
the uterus. It is a small telescope-
like instrument. It can also be used
during foetal surgery.
 • Results from foetal blood sampling are
obtained with a few days.
Foetal Blood • However, risk of miscarriage is higher:
1-2%.
Sampling • Also, there is a risk of infection, blood
loss and premature rupture of the
amniotic sac.