Antenatal Dx Of Congenital Abnormalities Flashcards Preview

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Flashcards in Antenatal Dx Of Congenital Abnormalities Deck (22):
1

Risk of Turner's changes with age?

Nope

2

Risk of XXX/XXY/XYY changes with age?

Nope

3

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

Yes.

4

Does triploidy risk change with age?

Nope

5

Assessment of risk?

Age
Previous history of baby with chromosomal anomaly

6

Maternal serum screening

Alpha Foetal protein
BHcG
PAPP-A Pregnancy associated protein

7

Normal nuchal translucency?

usually Less than 2mm

8

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

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

9

Probs with Cell-free DNA?

Age is not taken into account.
PPV: chance of the test being right when you get a positive result.

10

PPV intrinsic?

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

11

Where does cfDNA come from?

Placental DNA

12

2 models for cfDNA?

Primary: 10 weeks cfDNA

13

CfDNA vs. Karyotyping

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

14

12 weeks scan what anomalies?

Exomphalos (Trisomy 18)
Exencephaly-Acrania
Heart defects

15

When Is physiological exomphalos?

Less than 11weeks

16

Where do you see holoprosencephaly?

Trisomy 13

17

Structural anomalies at 11-13 weeks. Spinabifida?

Not really good a that time

18

When is nasal hypo plasma used and detect?

11-13 week scan for trisomy 21.

19

If increased nuchal translucency without T21?

Higher risk of major heart defects (Needs surgery)

20

Second trimester ultrasound looks at?

Organs

21

Congenital diaphragmatic hernia fetal assessment, when pick up?

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

22

Ventricles should be?

6-7mm
>10mm is bad