Congenital abnormalities

Question 1

Infections that can cause congenital abnormalities?

Answer 1

Rubella, zika, syphilis

Question 2

Questions to ask in genetic history regarding chances of baby having congenital abnormality?

Answer 2

Age of mother, previous abnormalities, family history, recreational drug use, viral exposure, radiation exposure

Question 3

Drugs that can cause congenital abnormalities?

Answer 3

ACE inhibitors, AEDs, Anabolic steroids, Chemo, fluconazole, Roaccutane, lithium, Tetracyclines, thalidomide, warfarin

Question 4

3 most common congenital abnormalities found in Down’s Syndrome children?

Answer 4

Cardiac, duodenal atresia, exomphalos (omphalocele)

Question 5

2 conditions that people with Down Syndrome are at increased likelihood of developing?

Answer 5

Leukaemia and early onset dementia

Question 6

Risk of Down syndrome with age?

Answer 6

20 = 1/1500, 30 = 1/900, 35 = 1/350, 40 = 1/100, 41 =1/80, 42 = 1/60, 43 = 1/40

Question 7

What scan is performed in the first trimester and at what gestation?

Answer 7

combined test at 10-13+6 weeks

Question 8

What does combined test look at?

Answer 8

nuchal scan, nasal bone, doppler for tricuspid regurg and ductus venosus abnormalities, blood test - Hcg and PAPP-a

Question 9

When is quadruple test performed?

Answer 9

Second trimester

Question 10

What does quadruple test look for?

Answer 10

beta HCG, inhibin, AFP, ue3

Question 11

when do you get scanned in second trimester

Answer 11

20 weeks

Question 12

2 forms of serum biological screening?

Answer 12

CVS and amniocentesis

Question 13

Non invasive prenatal testing?

Answer 13

fetal cells in maternal blood usually for Down syndrome or genetic abnormality identification

Question 14

Nuchal scan?

Answer 14

Nuchal translucency behind the neck

Question 15

Main soft markers being identified at the 20 week scan?

Answer 15

choroid plexus cysts, hydronephrosis, short limbs, sandal gap toe, echogenic bowel

Question 16

risks associated with invasive diagnostic tests?

Answer 16

Bleeding, ROM, infection, Rhesus, miscarriage, talipes

Question 17

When can CVS be performed?

Answer 17

11 weeks onwards

Question 18

When can anmiocentesis be performed?

Answer 18

15 weeks onwards

Question 19

When can cordocentesis be performed?

Answer 19

20 weeks onwards

Question 20

Congenital abnormality clinic scan uses a Doppler on which 2 areas?

Answer 20

Umbilical artery doppler as well as MCA

Question 21

Risk of neural tube defect reoccurence? if 1 sibling effected? if 2 are?

Answer 21

1/500, 1/30, 1/10

Question 22

Types of neural tube defects possible?

Answer 22

Hydrocephaly, anencephaly, encephalocoele, meningiomyelocele

Question 23

3 things that can develop as a failure of anterior closure?

Answer 23

anencephaly, encephalocoele, craniorachisis

Question 24

3 things that can develop as a failure of posterior closure?

Answer 24

Spina bifida occulta, closed spina bifida, meningocoele, meningomyelocoele

Question 25

What will be raised in maternal serum when there is a neural tube defect

Answer 25

Maternal serum AFP

Question 26

Anencephaly

Answer 26

portion of the brain doesn't form

Question 27

Encephalocoele

Answer 27

posterior skull defect causing brain to herniate

Question 28

Hydrocephalus

Answer 28

Excess fluid in cerebral ventricles, obstructed CSF due to spina bifida

Question 29

Where do the defects arise in spina bifida?

Answer 29

in the archs of the vertebrae

Question 30

Name for protrusion of the meninges

Answer 30

Meningocele

Question 31

Name for protrusion of meninges and nervous tissue

Answer 31

Myelomeningocele

Question 32

2 signs in the brain that can show spina bifida

Answer 32

banana sign, lemon sign

Question 33

Surgical procedure needed for spina bifida

Answer 33

Open hysterotomy

Question 34

When should a woman take folic acid prophylaxis

Answer 34

2 months before pregnancy up to 12 weeks gestation

Question 35

How much folic acid should regular woman take daily

Answer 35

400 mcg

Question 36

How much folic acid should a woman take to reduce risk of reoccurence of spina bifida? reduces occurence by how much?

Answer 36

4mg to reduce by 10 fold

Question 37

What is gastroschisis? what increases chances?

Answer 37

Failure of the abdominal wall to close, recreational drugs

Question 38

Omphalocoele?

Answer 38

when you have protrusion of the abdominal contents through the umbilicus usually covered in a membrane of the umbilical cord

Question 39

What can you undergo when you have polyhydramnios?

Answer 39

amnioreduction procedure

Question 40

What can you undergo if there is TTT?

Answer 40

Laser ablation of the fetal vessels

Question 41

How do you resolve fetal anaemia

Answer 41

In utero fetal transfusion

Question 42

What can be put in when there is bladder obstruction in the fetus

Answer 42

In utero pigtail catheter insertion

Question 43

2 causes of fetal anaemia

Answer 43

Rhesus exposure and infection with parvovirus

Question 44

How is in utero fetal transfusion performed

Answer 44

through the placenta into the umbilical vessels directly