Prenatal Screening Flashcards

(36 cards)

1
Q

During screening when a woman becomes pregnant, they may have the combined test, what is the combined test?

A
  • ultrasound scan of foetus
  • blood test
  • normally performed at 6 weeks
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

A blood test to assess for trisomy (3 chromosomes) is conducted on which week normally?

A
  • weeks 12-13
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

A blood test to assess for trisomy (3 chromosomes) is conducted on weeks 12-13. What are the 3 most common chromosomes that are normally found in this blood test?

A
  • 13, 18 and 21
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a sensitising event in relation to blood?

A
  • baby is rhesus + and mum is rhesus -
  • a small amount of the baby’s blood enters the mother’s bloodstream during pregnancy or birth
  • mother produces antibodies against the rhesus positive cells (known as ‘anti-D antibodies’)
  • in a 2nd baby the antibodies can cross the placenta and attack the foetus RBCs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

When screening a woman who is pregnant, we need to screen her for blood type, why?

A
  • determine classification according to ABO (A, B, AB or O blood type)
  • also determine if woman has D antigen which determine rhesus + or -
  • 1st pregnancy is fine, but in 2nd pregnancy, maternal antibodies may attack babies RBCs
  • screening identifies if this is an issue, and if so Anti-D immunoglobulin are provided
  • performed around 20 weeks
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

During screening when a woman becomes pregnant, they may have the combined test:

  • ultrasound scan of foetus
  • blood test
  • normally performed at 6 weeks

What 2 major things are they looking for on the ultrasound?

A
  • growth patterns (foetal growth restriction or small gestational age)
  • detection of trisomy (13, 18 and 21)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

During screening when a woman becomes pregnant, they may have the combined test:

  • ultrasound scan of foetus
  • blood test
  • normally performed at 6 weeks

On the ultrasound we are generally looking at growth patterns (foetal growth restriction or small gestational age) and for the detection of trisomy (13, 18 and 21). What syndromes is each of the 3 most common chromosomes affected linked with?

A
  • 13 = patau syndrome
  • 18 = edward syndrome
  • 21 = down syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

When performing a blood test we are trying to detect if the female or baby have haemoglobinopathies, pathology of the blood. What are the 2 most common haemoglobinopathies that we are trying to detect?

A

1 - sickle cell disease

2 - thalassaemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is thalassaemia?

A
  • disease where RBCs do not produce sufficient haemoglobin
  • alpha and beta globin chains are affected
  • patients may be anaemic causing them to be pale and tired
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is sickle cell disease?

A
  • RBCs are moon shaped instead of like round donuts
  • the odd shape and stickyness of the cells mean they get stuck in blood vessels
  • blood vessels can become blocked or restricted limiting O2 to the body
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Sickle cell disease causes RBCs to become moon shaped instead of like round donuts. The odd shape and stickyness of the cells mean they get stuck in blood vessels, causing blood vessels to become blocked or restricted limiting O2 to the body. Which populations are most likely to have sickle cell disease?

A
  • African, Caribbean, Mediterranean, Indian or Asian backgrounds
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are the 3 main infectious diseases that mothers will be screening for when pregnant?

A
  • HIV
  • hepatitis B (specialist care is offered)
  • syphylis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Generally, when can babies contract infectious diseases off their mothers?

A
  • during birth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the nuchal translucency scan?

A
  • part of ultrasound scan

- generally performed at week 12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

During the nuchal translucency scan the sonographer will attempt to measure the crown rump length, what is this?

A
  • measurement of greatest length in a straight line from the cranial to the caudal end of the body
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

During the nuchal translucency scan the sonographer will attempt to measure the crown rump length. In addition, 3 other measurements will try to be taken, what are they?

A

1 - femur length
2 - abdominal circumference
3 - cranial circumference

17
Q

During the nuchal translucency scan the sonographer will attempt to measure fluid behind the babies neck. An increased volume of fluid here increases the risk of what?

A
  • down syndrome

- has been linked with blockages in lymphatics

18
Q

What % of woman have a miscarriage that is detected at the 12 week scan?

19
Q

The ultrasound scan can be useful for detecting the number of placenta and amniotic sacs. What are these 2 terms called?

A
  • chorionicity = number of placentas (twins triplets etc..)

- amnionicity = number of amniotic sacs (twins triplets etc..)

20
Q

During an ultrasound scan, what is used to predict gestation length, and therefore date of delivery, which can be useful when identifying if a women needs to be induced?

A
  • last menstrual period
21
Q

What are the 4 most common structural anomalies that can be detected at the 12 week scan?

A

1 - spina bifida​ (poor neural tube closing)
2 - anencephaly (absence of brain and/or skull)
3 - exomphalos and gastroschisis​ (internal organs on outside of the body)
4 - bladder outflow obstruction​ (reduced amniotic fluid around the foetus causing under development)

22
Q

What screening scan is performed at weeks 18-20?

A
  • foetal anomaly scan

- baby is big enough to detect abnormalities (brain, bladder, heart)

23
Q

What happens to the risk of trisomy as a woman ages?

A
  • risk of trisomy increases
24
Q

What are 2 of the key markers that are measured in the blood during screening of a pregnancy?

A
  • blood human chorionic gonadotrophin hormone

- Pregnancy Associated Plasma Protein-A (PAPP-A)

25
What are some risk factors trisomy?
- maternal age​ - gestational age​ - ethnicity​ - smoking​ - IVF​ - multiple pregnancy​ - BMI​ - diabetes​ - past history of chromosome abnormality​ - foetal sex (males are more likely)​ - analytical imprecision​
26
What are the detection rates of congenital anomalies?
- 2-3%
27
What are the detection rates of down syndrome (chromosome 21), patau syndrome (chromosome 13) and edwards syndrome (chromosome 18)?
- down syndrome (chromosome 21)= 85% - patau syndrome (chromosome 13) = 80% - edwards syndrome (chromosome 18) = 80%
28
What are some of the most common characteristics of down syndrome?
- flat face with an upward slant to the eyes. - short neck. - abnormally shaped ears. - protruding tongue. - small head. - deep crease in the palm of the hand with relatively short fingers. - white spots in the iris of the eye. - poor muscle tone, loose ligaments, excessive flexibility
29
Patients with down syndrome often have what disease that they can often die from?
- cardiovascular disease
30
What are some of the most common characteristics of edwards syndrome, who generally die before or just after birth?
- low birth weight - small head (microcephaly) - severe learning disability - small jaw (micrognathia) - malformations of the heart - malformations of kidneys - clenched fists and malformed feet - feeding and breathing problems - cleft lip and/or cleft palate
31
What are some of the most common characteristics of patau syndrome, who generally die before or just after birth?
- cleft lip and palate - abnormally small eye or eyes (microphthalmia) - absence of 1 or both eyes (anophthalmia) - reduced distance between the eyes (hypertelorism) - problems with the development of the nasal passages - Other abnormalities of the face and head include: - smaller than normal head size (microcephaly) - skin missing from the scalp (cutis aplasia) - ear malformations and deafness - raised, red birthmarks (capillary haemangiomas)
32
The foetal screening programme is an ultrasound scan performed between 18-20 weeks. How many conditions is this screening used to detect?
- 11
33
The foetal screening programme is an ultrasound scan performed between 18-20 weeks to detect 11 conditions. if a woman is diagnosed with any condition, what are these women advised regarding giving birth?
- advised to give birth in a hospital
34
If any condition is detected, the couples options need to be discussed with them. What are the 3 main options commonly offered?
- continue with pregnancy - continue with pregnancy and look at adoption - termination (medical/surgical)
35
If any condition is detected in a pregnant women, one option offered to the couple is termination under ground E. What is ground E?
- if there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped​ - termination would therefore be better for the baby
36
What is cell free foetal DNA non invasive prenatal testing?
- mother and babies DNA is extracted from blood sample - both are screened for trisomy (13, 18 and 21) - marketed as Harmony of SAFE