Re: I am not trying to start drama but...

Being on the topic...there is an interesting article in the NY Times today...see below.

Screen All Pregnancies for Down Syndrome, Doctors Say

By RONI RABIN
Published: January 9, 2007

For decades, pregnant women 35 and older have routinely been tested for chromosomal abnormalities that might affect their fetus, most notably Down syndrome. Younger women were tested much less often because the risk of birth defects was low and invasive procedures like amniocentesis carried risks of their own.

The nuchal translucency test involves measuring fluid in the back of the neck of a fetus, just under the skin.

The change was prompted in part by new, less invasive screening techniques, including an ultrasound exam that helps assess risk as early as 11 weeks into a pregnancy — though not as accurately as the invasive procedures, amniocentesis and chorionic villus sampling.

But the new recommendations also address a demographic fact of life: while older women are at greater individual risk of conceiving a child with Down syndrome, most babies with the disorder are born to young women, simply because they give birth in far greater numbers.

“It’s been pretty much ingrained in obstetricians’ minds that 35 is the cutoff age,” said Dr. Deborah A. Driscoll, chairwoman of the obstetrics department at the University of Pennsylvania and a lead author of the new recommendations. “We’re trying to move away from that.

“The take-home message,” Dr. Driscoll continued, “is that all women, regardless of age, should be offered Down syndrome screening, and any woman should then have the option of diagnostic testing.”

Down syndrome is the most common chromosomal abnormality, affecting 1 in 800 live births. Children with the syndrome, who are born with an extra chromosome, display unusual facial features, suffer from moderate to severe mental retardation, and are at high risk for congenital heart defects and other health problems.

The risk of conceiving a child with a chromosomal abnormality does increase with age. For Down syndrome, the risk is 1 in 1,250 at age 25 but 1 in 106 at age 40.

The new guidelines erase any age distinction when it comes to offering screening and testing: older women may choose to undergo only a screening test, which predicts the degree of risk but may be inaccurate, while younger women may opt for a more invasive, more expensive but also more precise diagnostic test, like amniocentesis.

In explaining the new recommendation, several physicians said the cutoff age of 35 had always been somewhat arbitrary. “Many women are unhappy with it, because it doesn’t mean anything to them; it’s kind of being put upon them,” said Dr. James Goldberg, a former chairman of the obstetrics college’s committee on genetics, who helped develop the new guidelines.

For example, Dr. Goldberg said, a 29-year-old woman and her partner might now choose amniocentesis instead of a blood test. In the past, the more invasive procedure was seldom recommended for younger women because it could sometimes result in miscarriage. Now the risk is considered to be quite low, and in any event, Dr. Goldberg said, for some couples “losing a normal pregnancy secondary to the procedure is not as problematic as the birth of a Down syndrome child, so they’re willing to take that risk.”

The new guidelines, published in the January issue of Obstetrics and Gynecology, outline a dizzying array of screening options that individual physicians will need to choose from. Not all tests will be available to all patients, and one of the newer ultrasound exams requires special training and may not be available at all centers.

The ultrasound test, called a nuchal translucency test, involves measuring the fluid that accumulates in the back of the neck of a fetus, just under the skin. There is a strong association between the thickening of the neck in this area and the risk of Down syndrome, and studies have found that this measurement, combined with two blood tests done in the first trimester, can detect 82 percent to 87 percent of Down syndrome cases.

“Pediatricians have known for a long time that children with Down syndrome have excessive skin folds in the back of the neck,” said Dr. Ray Bahado-Singh, a board member of the Society for Maternal-Fetal Medicine. “This will also pick up the most common sex chromosome abnormality, Turner syndrome, which classically presents with the thickening of the neck.”

The catch is that the ultrasound must be conducted early in the pregnancy, at 11 to 13 weeks of gestation, when some women have yet to realize they are pregnant or to see an obstetrician.

“It’s a very narrow window,” said Dr. Driscoll of the obstetrics college, emphasizing the importance of getting very early prenatal care. “If a patient isn’t seen for obstetric care for the first 13 weeks of pregnancy, she would miss out on an opportunity to have this test.”

A number of blood tests can screen for chromosomal abnormalities in the second trimester, including the “triple screen” and the “quadruple screen,” which look for abnormal levels of biochemical markers, proteins and hormones. But while the quadruple screen detects up to 81 percent of Down syndrome cases, a so-called integrated approach, which uses both the nuchal translucency and the quad screen as well as another blood test, has a detection rate of 94 percent to 96 percent. The screens may be less sensitive for other chromosomal abnormalities.

Officials at the March of Dimes welcomed the new guidelines, saying they would help provide women with better information earlier in the progression of a pregnancy.

“The new guidelines are much better for the broader group of women who are having babies,” said Dr. Nancy Green, the organization’s medical director, “and that’s public health: doing the most good for the biggest number, the good in this case being the information people need to make decisions.”

Re: I am not trying to start drama but...

I am a teacher for students with disabilities and I love them all....but I honestly don't know if I would be able to handle my own child with a disability. Having a child is life altering, however, having a child with a disability is even harder. My dh and I have discussed this before and we would most likely terminate. I couldn't imagine growing old and worrying about what will happen to my child especially if they cannot function independently.

Re: I am not trying to start drama but...

Message edited 1/9/2007 2:42:25 PM.

Re: I am not trying to start drama but...

it is a very difficult situation. I dont know if i could imagine my grown child not being able to live on their own.
i have a cousin who is 27 years old who is autistic. he suffers from depression and is in the hospital constantly. he has a hard time maintaining a job. I dont know if this is selfish to say, but it is almost like he is a burden to his family.

Dh and i have discussed this briefly, i feel i would terminate, but dh isnt sure- i think sometimes he leans towards keeping the child. We shall see when and if the time comes.

Re: I am not trying to start drama but...

Re: I am not trying to start drama but...

If it was something like missing a leg or something like that I would keep it.

If it was something that would affect it's social skills like severe downs syndrome or autism I would terminate it, but only in the first trimester. I don't even think you can find out about stuff like that so early, but if you could that is what I would do.

JMHO

Re: I am not trying to start drama but...

My mother was pregnant with my sister when she was 41. She refused any testing. She said whatever it is, it is.

Re: I am not trying to start drama but...

Message edited 1/10/2007 12:35:40 PM.

Re: I am not trying to start drama but...

Re: I am not trying to start drama but...

Okay, I am really new here, but I feel compelled to respond to your post. I am the Mom of a special needs child ... a little boy who just turned six. He was my first child. My AFP scores were very high and I was told to abort ... and immediately. I went through tons of genetic testing, and I remember my Doctor hugging me and saying, "If you were my daughter I would advise you to terminate immediately." My pregnancy was haunted by fears and lots of turmoil. Since I am a Christian, I never considered termination ... although ... I respect others rights to make their own decision. When my son was born, I was surrounded by people ready to receive a baby that "according to the specialists" ... would be severely disabled and wouldn't survive a month." Needless to say, my son looked and seemed perfect. Everyone was baffled. It is now six years later. My little guy is disabled ... something we didn't know until he was about 16 months old. If you look at my little guy, he is gorgeous ... and appears normal. However, he suffers from a severe seizure disorder, ataxia (a muscular disability), apraxia (a swallowing disability) and functional deafness. There were many, many days in my life when I woke up wondering WHY ME??? Life is not easy and I don't have a lot of support or help. However, I want to tell you all something. My son is the most loving, affectionate and special child in every way. I cannot imagine not having him in my life. He is a joy and a true gift from God. There are no guarantees in life. Please, ladies, don't sell yourselves short and think that you can't handle disabiliites ... because you can. You are a lot stronger than you think. Sometimes it takes a child like my son to make us realize what we are really about inside. Do I worry about the future, money, etc??? Yes, every day of my life. However, I treasure my son like you can't even imagine. I went on to conceive again ... one year after my son was labeled disabled. Regrettfully, I lost that baby to a miscarriage. However, I didn't give up and tried again. I was blessed with a beautiful daughter. She, again, is a gift. She is also perfect in every way. Please ... don't be afraid of having a special needs child ... they will enhance your life in ways you never imagined. Good Luck to you!

P.S - I now have many new friends ... friends with autistic kids, downs syndrome kids and friends with deaf kids. We laugh, cry, celebrate and just depend on each other for love and support. Special needs moms are incredible people ... they are like no one else you will ever meet.

Thanks for letting me tell you how I feel!

Re: I am not trying to start drama but...

Special Needs Mommy-

THANK YOU so much for sharing your story. Your son sounds like an amazing child and I wish him much success and happiness in his future.

Re: I am not trying to start drama but...

Yes, thank you special needs mommy. I admore your courage and strength and your son is so lucky to have such a wonderful mommy And your daughter. It sounds like you have a wonderful family and it is always refreshing to hear an inspiring story like yours.

Re: I am not trying to start drama but...

Specialneedsmommy...you're an amazing person and God bless you and your family for your strength! Thank you for sharing your story with us!

Re: I am not trying to start drama but...

not to beat this topic to death, but i had a very interesting encounter today and i wanted to share it. one of my patients is a 50-something year old man with mild mental retardation. he also has chronic paranoid schizophrenia, which is seen relatively commonly in the mentally retarded population. he has been in and out of psychiatric hospitals since developing schizophrenia 25 years ago. i spoke to his father on the phone today to arrange a family meeting. he said, and i quote, "doc, i am 79 years old. my heart has got 5 stents in it. i've been running around after my son for 25 years and i'm all he's got. i'm not long for this world, and i just need to know he is going to be okay".

i was so moved by this, i almost cried right there on the phone with this guy. i just hope i can hold it together through the family meeting tomorrow

anyway, the decision to keep or not to keep a pregnancy is so deeply personal, and i don't think there could ever be a right or wrong answer. i only hope that every parent who is faced with this decision is given the opportunity to make the most informed decision possible.

Re: I am not trying to start drama but...

I am not yet TTC, but DH and I had this conversation the other night. I truly don't think that I would terminate. I would spend the rest of my life wondering "what if?" about my unborn child and what he/she could have brought to this world. I work with children with disabilities, and I feel that if g-d sent me a child with a disability, it would only be because He knew that I could handle it and advocate for my child's needs.

Re: I am not trying to start drama but...

Re: I am not trying to start drama but...

Re: I am not trying to start drama but...

I had this happen and I felt that I had to continue until I was clear as to what I was up against. Unfortunately or fortunately nature took it's course and I lost the baby at 15 weeks 3 days. I did a lot of research and new what I was up against (cystic hygroma). Most people terminate right away when they find this but it's obviously a personal decision.

When we found out how severe the problems could be, we did consider termination because we have one healthy child. We were thinking about quality of life for everyone involved. We could have had a child with a short life span, etc - how would that affect DS??? I NEVER thought that I would even think of it but I did and if I had more clarity and depending how severe (and I mean severe) I may have terminated. I have to say, you really don't know until you are in the situation.

Message edited 1/11/2007 10:29:42 PM.

Re: I am not trying to start drama but...

I truly don't feel I could answer that question unless I was in that situation. I don't know how I would feel. I do feel that it is a very personal choice that a couple has to make. For me a lot of it would depend on other factors in our life. Right now we already have one daughter and I would have to really think about how having a handicapped child would affect her as well as us. I know it would also depend on how old DH and I are and whether or not the doctors felt I could conceive again (we are currently having problems now which I why I say that). I don't imagine it's an easy choice to make so I truly hope I never have to make it.

Re: I am not trying to start drama but...

I don't think you can truly answer this question unless you are in the situation however, with that said I don't think I would abort. First, I'm a true believer in God doesn't give you more than you can handle. Second I know of two people who were told to terminate pregnancies because the baby was going to be disabled. One was told her baby was going to have down syndrome....the baby was born perfectly fine and she is now a beautiful 7 year old. The other, my SIL, was only 16 at the time when she found out her unborn baby had gastroskisis (sp) which is when the stomach doesn't close and the intestines are exposed at birth. They told her to abort because her baby had a severe case....my nephew is currently 11 years old, smart, handsome and healthy. Also, ever since my brother contracted encephalitis and was admitted to a Children's hospital, I have come to see disabled children at a whole different light. Everytime I go visit him I have to pass and see some severly disabled children but I also see children who although they have disabilities are the most loving, caring and funny kids you will ever meet. Yes it is sad...very sad but unfortunatley this is life. Some of these kids were born disabled and others...like my brother have become this way because of some unforseen event. Seeing the love the parents have for these children is truly amazing. I'm pretty sure none of them ever pictured having to care for a disabled child but the love that they have for their child overcomes all. Is it easy, no do you ask why me? yes but you always get through it. My parents are a living example of this....yes there are times they want to break down and scream but they keep going for my brother. Let me tell you....if you want a truly humbling experience...visit a childrens rehab center and do some volunteer work. It will bring a new perspective on life....

Re: I am not trying to start drama but...

This is a beautiful piece written by Erma Bombeck called "THE SPECIAL MOTHER". It makes you think .....

Most women become mothers by accident, some by choice, a few by social
pressures and a couple by habit.

This year nearly 100,000 women will become mothers of handicapped children.
Did you ever wonder how mothers of handicapped children are chosen?

Somehow I visualize God hovering over earth selecting his instruments for
propagation with great care and deliberation. As He observes, He instructs
His angels to make notes in a giant ledger.

"Armstrong, Beth; son. Patron saint...give her Gerard. He's used to
profanity."

"Forrest, Marjorie; daughter. Patron saint, Cecelia."

"Rutledge, Carrie; twins. Patron saint, Matthew."

Finally He passes a name to an angel and smiles, "Give her a handicapped
child."

The angel is curious. "Why this one God? She's so happy."

"Exactly," smiles God, "Could I give a handicapped child to a mother who
does not know laughter? That would be cruel."

"But has she patience?" asks the angel.

"I don't want her to have too much patience or she will drown in a sea of
self-pity and despair. Once the shock and resentment wears off, she'll
handle it."

"I watched her today. She has that feeling of self and independence that
is so rare and so necessary in a mother. You see, the child I'm going to
give her has her own world. She has to make her live in her world and
that's not going to be easy."

"But, Lord, I don't think she even believes in you." God smiles, "No matter,
I can fix that. This one is perfect - she has just enough selfishness." The
angel gasps - "selfishness? is that a virtue?"

God nods. "If she can't separate herself from the child occasionally,
she'll never survive. Yes, here is a woman whom I will bless with a child
less than perfect. She doesn't realize it yet, but she is to be envied.
She will never take for granted a 'spoken word'". She will consider a
step" ordinary. When her child says 'Momma' for the first time, she will
be present at a miracle, and will know it!"

"I will permit her to see clearly the things I see...ignorance, cruelty,
prejudice....and allow her to rise above them. She will never be alone.
I will be at her side every minute of every day of her life, because she
is doing My work as surely as if she is here by My side".

"And what about her Patron saint?" asks the angel, his pen poised in
mid-air.

God smiles, "A mirror will suffice."

Re: I am not trying to start drama but...

Specialneedsmommy. I truely think you are a blessing to your children and an inspiration to all.


I have been in the situation where it came down to possible life and death for me and possibly our daughter. I chose to continue with the pregnancy however when the time came for testing had she not been healthy we were ready to abort. Its nice to see the positive sides of each story but i have also seen the negative up close and my DH and I know that though it would be hard to terminate-- some things in life are equally as difficult just in different ways.

I have volunteered with special needs children and they truely are some of the most loving human beings-innocent emotion-someitmes it cna turn volatile but its not thier fault- with that said-

I have seen fathers and mothers walk away from children because they couldnt deal with the emotional and physical stress (Actually know someone who committed suicide becasue they couldnt deal). I have heard children ask their parents why they didnt let them die becuase the child was suffering and the parent was holding on because of "love"....this same child tried to commit suicide but failed.

It wasnt an easy discussion but for us we were in a possible situation so I can answer honestly that it would be the hardest sacrifice we would have to make to terminate but we would do it out of love the same way others would continue with the pregnancy

Message edited 1/12/2007 9:51:25 AM.