Antenatal Dx Of Congenital Abnormalities

Question 1

Risk of Turner’s changes with age?

Answer 1

Nope

Question 2

Risk of XXX/XXY/XYY changes with age?

Answer 2

Nope

Question 3

Risk of trisomy 21, 18, 13 change with age?

Answer 3

Yes.

Question 4

Does triploidy risk change with age?

Answer 4

Nope

Question 5

Assessment of risk?

Answer 5

Age

Previous history of baby with chromosomal anomaly

Question 6

Maternal serum screening

Answer 6

Alpha Foetal protein
BHcG
PAPP-A Pregnancy associated protein

Question 7

Normal nuchal translucency?

Answer 7

usually Less than 2mm

Question 8

How does cell-free DNA test work for Trisomy 21? How good?

Answer 8

Over abundance of cfDNA
in Trisomy 21. Via massive parallel sequencing
99.3% sensitive
0.1% false positive se

Question 9

Probs with Cell-free DNA?

Answer 9

Age is not taken into account.

PPV: chance of the test being right when you get a positive result.

Question 10

PPV intrinsic?

Answer 10

Product of pre-test and background and changes in the setting where you’re doing it.

Question 11

Where does cfDNA come from?

Answer 11

Placental DNA

Question 12

2 models for cfDNA?

Answer 12

Primary: 10 weeks cfDNA

Question 13

CfDNA vs. Karyotyping

Answer 13

NOT the same, fragments put into piles from chromosomes of origin. More from 21 means, trisomy 21

Question 14

12 weeks scan what anomalies?

Answer 14

Exomphalos (Trisomy 18)
Exencephaly-Acrania
Heart defects

Question 15

When Is physiological exomphalos?

Answer 15

Less than 11weeks

Question 16

Where do you see holoprosencephaly?

Answer 16

Trisomy 13

Question 17

Structural anomalies at 11-13 weeks. Spinabifida?

Answer 17

Not really good a that time

Question 18

When is nasal hypo plasma used and detect?

Answer 18

11-13 week scan for trisomy 21.

Question 19

If increased nuchal translucency without T21?

Answer 19

Higher risk of major heart defects (Needs surgery)

Question 20

Second trimester ultrasound looks at?

Answer 20

Organs

Question 21

Congenital diaphragmatic hernia fetal assessment, when pick up?

Answer 21

Lung to head ratio.
In utero intervention
Pick up at 20 weeks guarantee, may see at 12 weeks.

Question 22

Ventricles should be?

Answer 22

6-7mm

>10mm is bad