Ante and Postnatal Screening

Question 1

What are Antenatal Screenings used for?

Answer 1

These indentify the risk of a disorder so further tests can be carried out and prenatal diagnostics can be given

Question 2

What are Ultrasounds used for?

Answer 2

Dating scans can be used to check the due date and used in conjunction with testing for marker chemicals. This can be done between 8-14 weeks. An Anomaly scan can be used to detect serious physical abnormalities and these can be done between 18-20 weeks

Question 3

What are Blood and Urine tests used for?

Answer 3

These can check for different chemical markers which vary during pregnancy. A Atypical chemical
concentration can lead to diagnostic testing to determine the presence of a medical
condition. If carried out at the wrong time, can cause a false result

Question 4

What are Diagnostic Testings used for?

Answer 4

Cells taken from the samples can be cultured to
produce a Karyotype to help diagnose a range of conditions. Amniocentesis and Chorionic Villus sampling (CVS). Amino has a lower chance of a miscarriage but it is only available later in pregnancy

Question 5

What is a Karyotype?

Answer 5

Shows an individuals chromosomes arrangement as homologous pairs

Question 6

What is Amniocentesis?

Answer 6

Cells from Amniotic Fluid

Question 7

What is CVS?

Answer 7

Cells for the placenta

Question 8

What happens when deciding to

proceed with the tests?

Answer 8

Possible risks are assessed along with the decisions the individuals are likely to make should the tests be positive

Question 9

What are Pedigrees Charts used for?

Answer 9

Genetic Screening and Counselling

Question 10

What are the patterns of Autosomal Recessive inheritance?

Answer 10

Expressed rarely and skips generations

Question 11

What are the patterns of Autosomal Dominant inheritance?

Answer 11

Expressed in every generation, every sufferer has an affected parent and when fails to appear in a generation it dies out

Question 12

What are patterns of Autosomal Incomplete Dominance inheritance?

Answer 12

Fully expressed form occurs rarely, partially expressed much more common and every full expressed sufferer has 2 partially expressed parents

Question 13

What are the patterns of Sex Linked inheritance?

Answer 13

Affects more males then females and passed from mothers to son

Question 14

What is Phenylketonuria testing?

Answer 14

This is a heal prick. This tests for substitution mutation which causes the enzyme which converts phenylalanine to tyrosine to be non-functional

Question 15

What is the result of having PKU?

Answer 15

Suffers have to be put on a restricted diet