AIA - Dr. Brian Skotko, DS Prenatal Testing

Lucky to hear one of my favorite speakers on this subject that I feel very passionatly about talk this morning!

Prenatal DX of DS
Screening vs. Prenatal DX
Appetizer vs. Entree

Nancy asked if there is a place that can show what the different things mean. What do all the numbers mean? What is the bottom like? At the end of the day - only the doctor can tell you what it means. Bottom line it is just a chance - talk to the Doc about your specific #'s.

They look on CVS or Amnio under a microscope to decide that yes they do, or no they don't have a child with DS.

Options - some want to know, some want to straight to amnio or CVS - they have risk, even if it is a small risk.

One out of 400 times the Amnio will cause the miscarriage. Many women have lost their pregnancy and found out that the baby didn't have any chromosomal abnormality.

Allele Ratio Analysis
www.artemishealthing.com
Take blood from the mama and see cell free DNA of the baby. Yes, we can. How do we know if it is moms, or the baby. Are there genes you only use as a fetus. If they find one only as a fetus, you know it is coming from the fetus. Is there one only found on the 21st chromosome? Yes. Find the needle in the haystack - if 3 copies light up, then you know you have a child with DS.

Allele Ratio Analysis
www.artemishealthing.com
Sequenom - Blood coming from the mom's arm - is there accuracy? Right now it is being questioned, but they think it will be accurate. Performed in the first trimester. Cost will be $2000 - for insurers will be $700
Only will be Trisomy 21 - not reliable for translocation or mosaicism. Results will be given - you do, you don't or we can't tell. They plan for the only DS for now, but more later.

Shotgun Sequencing
Risk - a simple blood test - a ways to go - possible for other trisomies.

You will have a definitive blood test with 100% accuracy.

Are mother making informed decisions?
non-directive counseling, accurate information, up to date, balanced information.

81% of medical students report they get no clinical training re: DS
45% of fellows get barley adequate or non-existent training
28% of AGOG fellows felt they were well qualify in prenatal genetic counseling

Guidelines for delivering news prenatally and postnatally have been agreed recognized, but aren't signed off on.

We need to make sure the guidelines are in the hand of their OBs? They can talk about research and evidence to their own doctors about it.

Brighter-tomorrows.org - interactive online simulation that allows medical professionals to view patient-doctor sessions...

Training was signed into law for hte Prenatally and Postnatally dxed conditions awareness act.

Two states have a local version of the law - Missouri and Virginia.

Gold standard information about prenatal testing for Down syndrome. canisterbooks.com These packets should be offered to every couple with a prenatal DX.

Public Education - NDSS - My Great Story Campaign - in print, and commercials with people talking about DS.

Boxed lunches for the med schools &

Get a grand rounds sessions - do a lecture on Down syndrome - bring in a professional.
Send research to pediatrics and OB/GYN sites.

Does your local group hospital utilize the canisterbooks info?

This was a great session...