Flashcards in Antenatal Dx Of Congenital Abnormalities Deck (22):
Risk of Turner's changes with age?
Risk of XXX/XXY/XYY changes with age?
Risk of trisomy 21, 18, 13 change with age?
Does triploidy risk change with age?
Assessment of risk?
Previous history of baby with chromosomal anomaly
Maternal serum screening
Alpha Foetal protein
PAPP-A Pregnancy associated protein
Normal nuchal translucency?
usually Less than 2mm
How does cell-free DNA test work for Trisomy 21? How good?
Over abundance of cfDNA
in Trisomy 21. Via massive parallel sequencing
0.1% false positive se
Probs with Cell-free DNA?
Age is not taken into account.
PPV: chance of the test being right when you get a positive result.
Product of pre-test and background and changes in the setting where you're doing it.
Where does cfDNA come from?
2 models for cfDNA?
Primary: 10 weeks cfDNA
CfDNA vs. Karyotyping
NOT the same, fragments put into piles from chromosomes of origin. More from 21 means, trisomy 21
12 weeks scan what anomalies?
Exomphalos (Trisomy 18)
When Is physiological exomphalos?
Less than 11weeks
Where do you see holoprosencephaly?
Structural anomalies at 11-13 weeks. Spinabifida?
Not really good a that time
When is nasal hypo plasma used and detect?
11-13 week scan for trisomy 21.
If increased nuchal translucency without T21?
Higher risk of major heart defects (Needs surgery)
Second trimester ultrasound looks at?
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.