Genetic testing Flashcards

1
Q

What tests/diagnosis are done between 11 and 14 weeks of pregnancy?

A
  • dating the pregnancy
  • Diagnosing multiple pregnancies
  • Diagnosing major foetal abnormalities
  • Diagnose early miscarriage
  • assess risk of genetic conditions (downs) through nuchal translucency
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2
Q

What test is done between 20 and 22 weeks of pregnancy?

What does this examine?

A

Mid trimester anomaly scan

  • gives a detailed look at bones, heart, brain, spinal chord, face and kidneys
  • Looks for 11 rare conditions
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3
Q

What non-invasive tests can be carried out between 20-22 weeks?

A

Maternal blood test

Cell free foetal DNA (cffDNA)

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4
Q

What invasive tests can be carried out in pregnancy and when?

A

Chronic villus sampling 11-14 weeks

Amniocentesis 16+ weeks

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5
Q

What is a nuchal translucency test and what does it check for?

A

Nuchal translucency is a collection of fluid at the back of the foetal neck between 10-14 weeks

Increased >3mm can indicate chromosomal abnormalities (Downs, Edwards, Patau)

detects birth defects - cardiac anomalies, pulmonary defects, renal defects, abdominal wall defects

Skeletal dysplasia

screening not diagnostic

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6
Q

What is prenatal testing arranged following?

A

Abnormal findings at nuchal/mid-trimester scans

in women with high risk of Down’s syndrome or a previous history of genetic disease (including previous pregnancies)

following results of combined test which give an increased risk of down syndrome

If parents carrier of chromosome rearrangement or genetic condition

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7
Q

What are four aims of prenatal testing?

A

To inform/prepare parents for the birth of an affected baby/complications after birth

To allow possible in utero treatment

To aid in managing the remainder of the pregnancy

To allow termination of an affected fetus

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8
Q

What is tested for in maternal serum screening?

A

NIPT test - maternal blood test

Tests maternal serum markers in the blood to detect increases risk of fetal trisomy 21/18 and neural tube defects- markers will leap from placenta into the maternal blood

Achondroplasia, thanatophoric dysplasia, apert syndrome testing is free

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9
Q

What is cell-free foetal DNA?

A

Analyses placental DNA in maternal plasma - small amount of foetal DNA from placental leaks into maternal plasma
can be detected at 4-5 weeks but more accurate at 9 weeks

Not reliable if you have had previous pregnancies

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10
Q

What is chorionic villus sampling? What is the benefit and disadvantage of it?

A

Sample taken by a needle either transabdominally/vaginally of chorionic villi as it has the same DNA as foetus (part of placenta)
Allows for earlier results than amnio for abortion, but 1-2% risk of miscarriage and also risk of infection so only done where there is a known risk

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11
Q

What is amniocentesis?

A

Sample cells taken from amniotic fluid contain foetal cells as at 18-20 weeks the DNA is present in amniotic fluid

Risk of Rh sensitisation- mother can attack the foetus as if it was a blood clot so further treatment must be given
Infection

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11
Q

When is sexing done using placental dna?

A

When there is an X-linked condition in the family

Detects SRY on y chromosome to determine whether it is a male so that prenatal testing can be done

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12
Q

What is a CGH array?

A

Offered when there are concerns on the 20 week scan
Looks for chromosomal imbalances to pick up diseases (picks up micro deletions duplications)
May require testing of parents to interpret as some imbalances are normal

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13
Q

What is the trio exome?

A

Full genetic sequencing, offered where previous pregnancies have has significant anomalies

Exome is the coding region of the genomes - dna taken from parents and child

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14
Q

What are the limitations of NIPD and NIPT?

A
  • multiple pregnancies mean you cant tell which foetus the DNA is from even if one of the pregnancies have been terminated
  • the relative proportion of ccfDNA is reduced in women with a high BMI as they have more of their own
  • invasive tests may still be needed to confirm diagnosis
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15
Q

What are the benefits to NIPD and NITP?

A
  • Number of invasive tests carried out is likely to reduce as a result
  • no increased risk of miscarriage
  • less expertise is required to take a blood test
  • usually offered earlier than invasive options
16
Q

When there is a known reproductive risk what options are offered ?

A

Conceive naturally (with or without prenatal testing)

Adoption

Egg/sperm donors

Pre-implantation genetic diagnosis (IVF)

17
Q

What are the rules and regulations on egg/sperm donation?

A

Not anonymous - children can contact donor at 18

Usually go through UK HFEA licensed fertility centres

18
Q

What are the two stages of adoption?

A

Registration and checks (2months) -medical and criminal

Assessment and approval (4 months) - home visits, panel review and decision made

19
Q

What is pre-implantation genetic diagnosis?

A

Uses IVF with an additional step to genetically test the embryo before implantation
Used by those who don’t want to TOP

number of cycles allowed is very varied

20
Q

What are the steps of PGD?

A
  1. Stimulation of the ovaries​
  2. Egg collection​
  3. Insemination​
  4. Fertilisation​
  5. Embryo biopsy​
  6. Embryo testing​
  7. Embryo transfer​
  8. Pregnancy test
21
Q

What is the PGD referral criteria ?

A

Female partner is under age 39

Both partners are non-smokers​​

Known risk of having a child affected by a ‘serious’ genetic condition (at least 10%)​

Female partner has hormone levels that suggest she will respond to treatment​

An accurate genetic test is available​

A licence is required from the HFEA for each genetic condition or indication​

Eligible couples are usually funded for three rounds of PGD.​

22
Q

What is the role of a genetic councillor in prenatal testing?

A

Arrange and explain CVS, amniocentesis, PGD, cffDNA
Facilitate decision making
Give results
See patients in clinic following a diagnosis in utero
Arrange termination of necessary
Discuss recurrence risks and plans for future pregnancies

23
Q

Explain the timeline of when testing is done throughout pregnancy.

A

Start with ccfDNA at around nine weeks
Do a nuchal scan 2 weeks later as well as some other tests ie serum markers
20 week scan down (mid semester scan)
If anything is picked up do some non-invasive tests (
And if more problems detected do invasive tests
If you do not want invasive tests you can carry out further usually private testing (CGH array/trio exome)