4. Ante and Post Natal Screening Flashcards
What type of scan is used to determine the stage of pregnancy?
Dating Scan
During which stage of pregnancy does the dating scan take place?
Between weeks 8 and 14
What type of scan detect physical abnormalities?
Anomaly scan
Which technique is used to generate an image of the developing foetus?
Ultrasound
What term describes when a disorder is indicated in error?
False Positive
What term describes when a disorder is missed in error?
False Negative
Which bio-marker is measured to screen for Down’s Syndrome?
Alpha-Fetoprotein (AFP)
What are the 2 diagnostic tests?
Amniocentesis and Chorionic Villus Sampling (CVS)
What test shows an individual’s chromosomes?
Karyotype
What is an advantage of CVS over amniocentesis?
Carried out earlier in pregnancy
What is an advantage of amniocentesis over CVS?
Lower risk of miscarriage
Different versions of genes are known as…
Alleles
An allele will always be expressed if it’s …
Dominant
An allele will always be repressed if its…
Recessive
2 copies of the same allele would be described as…
Homozygous
Different copies of an allele would be described as…
Heterozygous
The combination of alleles is someone’s…
Genotype
The trait that results from the genotype is known as the…
Phenotype
The X and Y chromosomes are known as the…
Sex Chromosomes
Chromosomes 1 to 22 are known as the…
Autosomal Chromosomes
Autosomal Recessive disorders require how many copies of the faulty allele?
2
Autosomal Dominant disorders require how many copies of the faulty allele?
1
Sex Linked disorders are carried on the…
X Chromosome
In sex linked recessive disorders males have what % chance of inheriting the disorder?
50%
In sex linked dominant disorders, how many copies of the faulty X Chromosome are required?
1
Which amino acid cannot be converted to tyrosine in PKU?
Phenylalanine
