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Down Syndrome and Pregnancy

Hello,

My sister just received a call from the doctor. She is 18 weeks pregnant. The doctor said her bloodwork revealed a 1 in 140 chance that the pregnancy will result in a down syndrome child. She just went for an ultrasound today and it was fine. There was no soft or hard markers. She took a special blood test that they said would give close to a 99% probability as to whether the child has DS. Do we have reason to worry?  Should we take the amnio to guarantee 100%. We are a bit worried and definitely wanted to seek guidance on this forum. Thanks in advance for your help.  We appreciate it.
2 Responses
351246 tn?1379682132
MEDICAL PROFESSIONAL

Hi!

Unless there is a strong family history, and your sister is having the first pregnancy after 35 years of age, screening test alone will not be diagnostic of Down's Syndrome. The screening test results have to be correlated with normal averages in your area/ethnic background etc. Amniocentesis is the only surge way of finding out whether the baby has Down’s or not. Please consult your doctor regarding this. Take care!

The medical advice given should not be considered a substitute for medical care provided by a doctor who can examine you. The advice may not be completely correct for you as the doctor cannot examine you and does not know your complete medical history. Hence this reply to your post should only be considered as a guiding line and you must consult your doctor at the earliest for your medical problem.
Avatar universal
I have read and have asked my doc and specialist every question possible concerning tri 21 which is downs ... In that last Dr comment I would like to say there is no proof that ethnicity plays a factor period ... In down ....ask your doc about the harmony test ... It is a non invasive  test .... No harm to your baby ... They draw your blood  extract the babies DNA and test it for any extra y chromosomes  there are T 13 .... T 18 and T21...... T21 being downs   I have had this one .... I am a 44 yr old mother of 3 girls 22 20 and 18... 1 boy 12 .... A grandma of 2 almost 3 lol... I thought I had food poisoning for 3 days ... Took home preg ... The.first day I missed my period ... Boy was wrong ... I was in shock ...I have been blessed again !!! I love my life ... I found an ob... Before my first appointment I had a bad hemorrhage 911 the whole deal I was petrified thought I lost my little booger... At 8 weeks saw my doctor was still bleeding Alittle but ultrasound looked fine baby looked great ... Placenta had torn away from uterus ... At 10 weeks I had the harmony test ... Doctor said because of my age I was high risk ... For downs ... Trisomy 21 .... The test came back a week later ... She called me in for an early appointment ... I was so excited because the harmony test is ... My blood taken ... And babies DNA extracted from my blood ... I was going to find out the sex .... She explained my results ... DNA showed the xtra chromosome... Trisomy 21 ... She said my baby has downs ... I cried ... Was drepressed ...prayed ... And have done way to much googling.... Knowing in heart I do not believe in termination ....I have come to realise after a lot of praying ... Not only have I been blessed to have a beautiful little girl .... God has blessed me with an even more special gift ... I can not wait to hold her ... To see her... To love her ... I feel so priveledged and so excited that god thinks I am special enough to bless me yet again to love this special little girl downs or not ... I'm 15 weeks now .... I hope I have not offened anyone with my opinions ... 400,000 Americans have downs ... 92 percent of women who find out they are having a downs baby abort ... It's hard to believe ... Or Understand .... But I know we all have a choice .... I'm choosing love my baby No Matter What !!!
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