What is autosomal dominant inheritance?
Only mutated copy of the gene is needed for person to be affected by disorder
e.g. Marfans
What is autosomal recessive inheritance?
Both copies of gene must have mutations
parents each carry one copy of mutated gene
e.g. CF
What is X-linked dominant?
mutation in genes on the X chromosome
males most severely affected as only one X
no male to male transmission
What is X-linked recessive?
Both X in females must be mutated to be affected, but will affect males if mutated in the single X chromosome
What is Y-linked recessive?
mutated gene on Y chromosome
only passes from father to son
What are the common congenital abnormalities?
neural tube defects - spina bifida and anencephaly
folic acid supplementations reduces incidence
cardiac defects can be diagnosed with US and can be corrected after birth with surgery
defects in the abdominal wall - exomphalos and gastroschisis
chest defects - diaphragmatic hernias, pleural effusions
GI defects - oesophageal atresia and trachea-oesophageal fistulae, duodenal atresia
GU - hydronephrosis, posterior urethral valves
Skeletal - skeletal dysplasia, limb abnormalities
Fetal hydrops - extra fluid in 2+ areas of the fetus
What is important to consider when prescribing in women of child bearing age?
drugs have harmful effects on the fetus at any time during pregnancy so bear in mind when prescribing
Why is safe prescribing important in the 1st trimester?
drugs produce congenital malformations (teratogenesis), period of
greatest risk from 3 rd -11 th week of pregnancy
Why is safe prescribing important in the 2nd and 3rd trimester?
drugs affect growth or functional development of fetus, or toxic effects on fetal tissues
Why is safe prescribing important shortly before term and during labour?
adverse effects on labour or on neonate after
delivery
What are the main principles of safe prescribing in pregnancy?
only prescribe if benefit to mother is thought to be greater than risk to fetus
all drugs should be avoided in the first trimester
smallest effective dose
use usually safe drugs rather than new/untried drugs
What are the aims of antenatal care?
What screening is done during booking (before 10 weeks)?
What screening is done between 9-12 weeks?
USS to date pregnancy and identify twins
advise regarding chromosomal trisomies
counsel and offer CVS is high risk
What screening is done between 18-21 weeks?
routine anomaly US to detect structural abnormalities
counsel and offer CVS if high risk
What screening is done later in pregnancy?
some abnormalities only visible in later pregnancy
US if polyhydramnios, breech, suspected IUGR
What are the risk factors for complicated pregnancies that occur pre-pregnancy?
poor past obstetric history or a very small baby maternal disease assisted conception extremes of reproductive age heavy smoking/drug abuse
What are the risk factors for complicated pregnancies that occur during pregnancy?
hypertension/proteinuria vaginal bleeding small for dates baby prolonged pregnancy multiple pregnancy
What some available investigations for complicated pregnancies?
cervical scan at 23 weeks
Uterine artery Doppler
Maternal blood tests
What are the different methods of monitoring fetal well being?
US - used to measure fetal size after 1st trimester
Doppler umbilical artery waveforms - helps identify which small foetuses are growth restricted
Doppler waveforms of fetal circulation - used in high risk pregnancies
US assessment of amniotic fluid volume - useful in high risk pregnancy
CTG/non-stress test - fetal heart recorded electronically
Kick chart - compromised foetuses have reduced movements
What social problems affect pregnancy outcomes?
What are some important measures to be taken preconceptually?
What lifestyle advice should be given in pregnancy?
Well balanced diet (2500 calories)
Alcohol - best avoided esp in first trimester
Dental check up advised
Coitus not contraindicated except in placenta praevia/ruptured membranes
Avoid infection - drunk only pasturized milk, avoid soft/blue cheese, pate, cooking eggs/poultery well
Exercise - swimming is ideal, avoid contact sports
Vaccinations
Insurance issues
Driving - seatbelt above and below bump
When should 400 micrograms be given and when should 5mg of folic acid be given in pregnancy?
400 micrograms of folic acid should be taken at least one month prior to conception and in the first 3 months of pregnancy to reduce NTDs
High dose (5mg) should be given