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Prevention & Diagnosis of Birth Defects

Prevention & Diagnosis of Birth Defects. HPC 3O February 13 th , 2013. Prevention. Preventing infections – proper sanitary practices No drugs or alcohol Healthy choices. Genetic Counseling. When might you go to a genetic counselor?

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Prevention & Diagnosis of Birth Defects

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  1. Prevention & Diagnosis of Birth Defects HPC 3O February 13th, 2013

  2. Prevention • Preventing infections – proper sanitary practices • No drugs or alcohol • Healthy choices

  3. Genetic Counseling When might you go to a genetic counselor? • Concerned about the risk of having a baby with a genetic defect • Have a child with a genetic defect and want more info • Explains options and risks

  4. Who Performs Genetic Counseling? • Family doctors can, but a specialist is better!

  5. Genetic Counseling Dana Marlowe decided to undergo genetic testing before becoming pregnant with her first son, now 3 years old. Because she is of Eastern European decent and Jewish and her husband is French Canadian, she knew their ancestries put them at risk for conceiving a child with Tay-Sachs disease.   The tests determined that she was not a carrier, her son was born healthy, and Marlowe is grateful that she had them done. “We wanted to be able to learn a little bit about it so if there is something we needed to be aware of, we rather know sooner than later,” Marlowe said. Marlowe and her husband are not alone: Many couples decide to go for genetic testing before they become pregnant.

  6. Prenatal Tests • Many defects can be identified before a baby is born • Some alert physician to correct a situation immediately • Info can be supplied through blood tests • 3 main procedures: ultrasounds, amniocentesis, chorionic villi

  7. Ultrasound • Sound waves make video image of baby • Shows whether baby is growing on schedule • Abnormalities regarding skeleton and other organs can be detected • Common – no risk associated

  8. Ultrasound Video • http://www.youtube.com/watch?v=kf6rc-Tx_Eg

  9. Amniocentesis • Sample of amniotic fluid taken for testing • Using a needle • Usually used as a test for Down syndrome (when mother is over age 35) • Risks – 1/100 have a miscarriage

  10. Experience with Amniocentesis I just had an amnio done and it was one of the very difficult decisions we had to make. My triple test result (which is a blood test used to measure a woman's risk of having a baby with spina bifida, Edward's syndrome and Down's syndrome) was not exactly ideal. For my age group, the risk of having a Down baby should be 1:500 but my blood test yielded a 1:100 risk. The amnio procedure carries a 1 in 300 miscarrige risk. My hubby and I were in a great dilemma. My first trimester wasn't exactly a piece of cake as I had to deal with severe bloating and nausea and just as I was expecting better days ahead in the second trimester, we were greeted with such news. I still remember the day before I was scheduled for the test...The only thing i could do was to pray and commit everything, especially the health of my baby to God. The day of the amnio finally came. The procedure involved my gynae inserting a long, hollow needle through my abdomen to draw out some amniotic fluid. I was amazed at how painless it was and to begin with, my threshold of pain is almost non-existent...I witnessed the whole procedure with amazement as the straw-coloured fluid was withdrawn with the guide of the ultrasound. My gynae assured me that in all his years of practice, he has never pricked a babyWe opted for the express service using a technique (PCR) which would give us the result in 3 days. The days of waiting really drained me but finally, the call from the clinic came. I am thankful for a second normal boy who would be due in Feb 14 2008

  11. Chorionic villi • Sampling small amounts of tissue from membrane surrounding fetus • Small tube inserted through vagina into uterus • Can be done earlier in a pregnancy than amniocentesis • Risks of miscarriage of birth defects more common

  12. Experience with Chorionic Villi I had CVS testing done with my daughter.  It was simple and quick.  We found out the same day the results about DS, Trisomy, one other defect and the sex.  If the doctor is experienced, the risk of miscarriage are low.  It is worth it for me to have peace of mind.  I have had 2 miscarriages due to genetic defects right before having the CVS.  So knowing that my baby is healthy is worth it. 

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