Congenital abnormalities Flashcards
Infections that can cause congenital abnormalities?
Rubella, zika, syphilis
Questions to ask in genetic history regarding chances of baby having congenital abnormality?
Age of mother, previous abnormalities, family history, recreational drug use, viral exposure, radiation exposure
Drugs that can cause congenital abnormalities?
ACE inhibitors, AEDs, Anabolic steroids, Chemo, fluconazole, Roaccutane, lithium, Tetracyclines, thalidomide, warfarin
3 most common congenital abnormalities found in Down’s Syndrome children?
Cardiac, duodenal atresia, exomphalos (omphalocele)
2 conditions that people with Down Syndrome are at increased likelihood of developing?
Leukaemia and early onset dementia
Risk of Down syndrome with age?
20 = 1/1500, 30 = 1/900, 35 = 1/350, 40 = 1/100, 41 =1/80, 42 = 1/60, 43 = 1/40
What scan is performed in the first trimester and at what gestation?
combined test at 10-13+6 weeks
What does combined test look at?
nuchal scan, nasal bone, doppler for tricuspid regurg and ductus venosus abnormalities, blood test - Hcg and PAPP-a
When is quadruple test performed?
Second trimester
What does quadruple test look for?
beta HCG, inhibin, AFP, ue3
when do you get scanned in second trimester
20 weeks
2 forms of serum biological screening?
CVS and amniocentesis
Non invasive prenatal testing?
fetal cells in maternal blood usually for Down syndrome or genetic abnormality identification
Nuchal scan?
Nuchal translucency behind the neck
Main soft markers being identified at the 20 week scan?
choroid plexus cysts, hydronephrosis, short limbs, sandal gap toe, echogenic bowel
risks associated with invasive diagnostic tests?
Bleeding, ROM, infection, Rhesus, miscarriage, talipes
When can CVS be performed?
11 weeks onwards
When can anmiocentesis be performed?
15 weeks onwards
When can cordocentesis be performed?
20 weeks onwards
Congenital abnormality clinic scan uses a Doppler on which 2 areas?
Umbilical artery doppler as well as MCA
Risk of neural tube defect reoccurence? if 1 sibling effected? if 2 are?
1/500, 1/30, 1/10
Types of neural tube defects possible?
Hydrocephaly, anencephaly, encephalocoele, meningiomyelocele
3 things that can develop as a failure of anterior closure?
anencephaly, encephalocoele, craniorachisis
3 things that can develop as a failure of posterior closure?
Spina bifida occulta, closed spina bifida, meningocoele, meningomyelocoele
What will be raised in maternal serum when there is a neural tube defect
Maternal serum AFP
Anencephaly
portion of the brain doesn’t form
Encephalocoele
posterior skull defect causing brain to herniate
Hydrocephalus
Excess fluid in cerebral ventricles, obstructed CSF due to spina bifida
Where do the defects arise in spina bifida?
in the archs of the vertebrae
Name for protrusion of the meninges
Meningocele
Name for protrusion of meninges and nervous tissue
Myelomeningocele
2 signs in the brain that can show spina bifida
banana sign, lemon sign
Surgical procedure needed for spina bifida
Open hysterotomy
When should a woman take folic acid prophylaxis
2 months before pregnancy up to 12 weeks gestation
How much folic acid should regular woman take daily
400 mcg
How much folic acid should a woman take to reduce risk of reoccurence of spina bifida? reduces occurence by how much?
4mg to reduce by 10 fold
What is gastroschisis? what increases chances?
Failure of the abdominal wall to close, recreational drugs
Omphalocoele?
when you have protrusion of the abdominal contents through the umbilicus usually covered in a membrane of the umbilical cord
What can you undergo when you have polyhydramnios?
amnioreduction procedure
What can you undergo if there is TTT?
Laser ablation of the fetal vessels
How do you resolve fetal anaemia
In utero fetal transfusion
What can be put in when there is bladder obstruction in the fetus
In utero pigtail catheter insertion
2 causes of fetal anaemia
Rhesus exposure and infection with parvovirus
How is in utero fetal transfusion performed
through the placenta into the umbilical vessels directly
