Genetics

Question 1

what are definitive antenatal tests and when are they done

Answer 1

chorionic villus sampling - 11.5 weeks

amniocentesis - 15 weeks

Question 2

what causes a large nuchal thickness

Answer 2

slow lymphatic development

high risk of Downs

Question 3

what does non-invasive prenatal testing look for

Answer 3

cff DNA

Question 4

what is confined placental mocaicism

Answer 4

placenta grows rapidly and so can get patches of normal and abnormal cells

Question 5

What can NIPT detect

Answer 5

sex of baby

chromosomal abnormalities

Question 6

what does aCGH test for

Answer 6

chromosomal abnormalities - unbalanced translocations

Question 7

what does PCR test for

Answer 7

single nucleotide polymorphisms

Question 8

what is pre-implantation genetic diagnosis

Answer 8

checks embryos of high risk of genetic disorders before implanting them by IVF

Question 9

list causes of a floppy baby

Answer 9

central 
spinal cord
anterior horn cells 
NMJ 
Muscle

Question 10

list central causes of floppy baby

Answer 10

hypoxic ischaemic encephalopathy 
intracranial haemorrhage 
cerebral haemorrhage 
chromosomal 
congenital infections - TORCH

Question 11

what are the congenital infections TORCH

Answer 11

toxoplasmosis 
other - syphilis, parovirus B19, VZV
rubella 
CMV
HIV, herpes, hepatitis

Question 12

what are spinal cord causes of floppy baby

Answer 12

birth trauma

syringomyelia

Question 13

what are anterior horn cell causes of floppy baby

Answer 13

SMA

Pompe’s disease

Question 14

what are NMJ causes of floppy baby

Answer 14

MG

botulism

Question 15

what are muscular causes of floppy baby

Answer 15

muscular dystrophies
myopathies
maternal myotonic dystrophy