Unit Two - Key Area 4 Flashcards

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1
Q

What is antenatal and postnatal screening?

A

When a variety of techniques are used to monitor the health of the mother, developing foetus and baby. Antenatal screening identifies the risk of a disorder so that further tests and a prenatal diagnosis can be offered.

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2
Q

What are the two ultrasound scans women are given?

A

dating scan and an anomaly scan

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3
Q

When does the dating scan take place/what is it used for?

A

Takes place between 8 and 14 weeks. It determines the stage of pregnancy and due date. This is used with tests for marker chemicals which vary normally during pregnancy.

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4
Q

When does the anomaly scan take place/what is it used for?

A

Takes place between 18-20 weeks and may detect serious physical abnormalities in the foetus.

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5
Q

Why are routine blood and urine tests carried out?

A

to monitor the concentrations of marker chemicals

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6
Q

What is amniocentesis?

A

Amniocentesis is a procedure is usually carried out between the 15th and 20th week of pregnancy which involves the collection of foetal cells contained within amniotic fluid. A needle is inserted through the abdomen/uterus wall into the amniotic sac and a sample of the amniotic fluid is collected.

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7
Q

What are advantages and disadvantages of amniocentesis?

A

Advantage – it is used to detect genetic or chromosomal abnormalities of the foetus.
Disadvantage - the procedure carries a risk of miscarriage.

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8
Q

What is chorionic villus sampling (CVS)?

A

Chorionic villus sampling is procedure usually carried out between the 11th and 14th week of pregnancy. This procedure removes a small sample of cells from the placenta. These can be obtained through the abdomen or through the cervix.

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9
Q

What are advantages and disadvantages of CVS?

A

Advantage – it is used to detect genetic or chromosomal abnormalities of the foetus and can be performed earlier than an amniocentesis.
Disadvantage - the procedure carries a higher risk of miscarriage than an amniocentesis.

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10
Q

What is a karyotype?

A

A karyotype shows an individual’s chromosomes arranged as homologous pairs

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11
Q

What is PKU (phenylketonuria)?

A

Phenylketonuria is caused by a substitution mutation meaning that an enzyme which converts phenylalanine to tyrosine is non-functional. Individuals with high levels of phenylalanine are placed on a restricted diet.

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