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We are in week 18 of our 3rd preganancy, never did the CVS or amnio in our 2 prior healthy pregnancies. Now that we did the tests, we are in a very difficult situation. Our test result revealed chromosomal abnormalities in a male baby with only 45x,46xy mosaicism.
We are seeking genetic couseling for more education, but findings state that the child will be abnormal even though we have had normal sono/ultrasounds. Should we abort and safe this child from the chance of being abnormal throughout its life. We fear that when this child is 15-20 yrs old and is in a locker room of guys, and he reveals his female characteristics, or no gonads, or mild retardation, etc..he will be personally embarrassed for life. is this fair to do to anyone knowing that you could have prevented it before they were born?? is this test result even considered an abnormality that one could not live with?? please help.

2007-03-02 15:36:15 · 20 answers · asked by clockisticking 1 in Pregnancy & Parenting Pregnancy

20 answers

I am currently waiting for results from my CVS done almost 2 weeks ago. Because my last pregnancy ended in a medical termination ,my son had a fatal condition called Campomelic Dysplasia, all my samples have to be sent to Germany for testing. (I am in Canada) As much as it broke my heart to make the decision to terminate, I have never wavered in thinking that I did the right thing. And if, God forbid, this baby has the same thing, I will not hesitate to terminate again. And have myself sterilized. It was the hardest and most heartbreaking decision I have ever made but it was a decision I made out of love. I loved my son far too much to allow him to live a short life filled with nothing but suffering. At the end of the day, I think that will help you make your decision. Will my child suffer?

2007-03-02 16:44:03 · answer #1 · answered by Michelle 4 · 1 0

EDITED MUCH LATER...

The chromosomal defect you ask about is known as 46XY, 45X mosaicism. Mosaicism occurs when some tissues of the body have one set number of chromosomes such as 46 and other tissues in the body have another set number of chromosomes - such as 45. In the case you describe - it is the Y chromosome that is missing in some cells of the body. Most likely, the Y chromosome was lost either at conception or at some time very early in fetal development.

The problems associated with this type of chromosomal finding can range from totally normal to an infant having ambiguous genitalia (abnormalities of the genitalia). Some males have been found to be infertile. Research has found that the vast majority are normal males.

This was a response on a separate website posted by:

Anne Matthews, RN, PhD
Director, Genetic Counseling and Family Studies
Assistant Professor
Department of Genetics
School of Medicine
Case Western Reserve University

In response to "should we abort?" That's a deeply personal decision. Were the defects detected KNOWN to be fatal or at least more disfiguring, there would be no doubt (for me). In this case...I hate to say it, but...it's a crapshoot.

But isn't all life somewhat of a crapshoot?

2007-03-02 15:45:39 · answer #2 · answered by Wolfsburgh 6 · 1 0

No one can tell you what to do but I will tell you this....I had an abortion beacause of complications during pregnacy...I was not as far as long as you but that doesn't matter. These are the things you must consider, quality of life for your child and your family, finacial hardships (only because special needs can take an enormous amount of money), and your level of strength. Any child is a blessing but do NOT do what you think is "right" (having the baby I assume) just because that is what you think is right. The right decision is the one you can productivly live with; you and all the members of your immediate family. If you are finacially able to take on the responsibility of a child with special needs then the tough part is over b/c I am sure you have more than enough love in you to love any childof yours. Review your situation..talk to your spouse and never ask "what if". My prayers are with you and I hope you are strong enough to make the decisions you need to.

2007-03-10 11:44:24 · answer #3 · answered by Tiff C 2 · 0 0

Of course that decision is totally up to you and your partner. You'll get some that are for and some that are against. But, if you consider the info that the first poster put up, specifically this - "The problems associated with this type of chromosomal finding can range from totally normal to an infant having ambiguous genitalia (abnormalities of the genitalia). Some males have been found to be infertile. Research has found that the vast majority are normal males." - you take the chance of aborting a "normal" (whatever that truly means), healthy child. If your child has a disability, will you love him any less because of it? I doubt it. I wish you peace with whatever you decide.

2007-03-02 15:53:08 · answer #4 · answered by Mama to 4 wanting more 2 · 0 0

You need to think about how well you would be able to cope once the baby is born. If you are going to love this child regardless of it's abnormality then a mother's love is enough for any child to have a fantastic life. There will be many choices available for this child and I'm sure you will be there to support him every step of the way. There are perfectly formed humans who are much worse off than your son, like those that live in a third world country. If you want to keep your child I wish you every happiness.

2007-03-08 22:30:28 · answer #5 · answered by Youngmom 1 · 1 0

45X/46XY
It is sometimes hard to predict the clinical outcome of mosaic conditions, as one cannot predict the percentage of normal vs. abnormal cells from organ to organ. In general, many 45,X/46,XY individuals are normal-appearing males, and are reared as such. However, given the presence of a 45,X cell line, the health care provider should do a full evaluation looking for different things that can go along with Turner syndrome (an echocardiogram to look for heart defects, renal/kidney ultrasound, etc.).

Most individuals with Turner syndrome have normal intelligence. However, learning disabilities are seen more often, particularly with regard to spatial perception, visual-motor integration, mathematics, memory, and attention span.

I hope this helps a little bit and I am so sorry you are put in this position.....Good Luck!

2007-03-02 15:46:26 · answer #6 · answered by Lisa ♥'s Tim 6 · 1 0

The problems associated with this type of chromosomal finding can range from totally normal to an infant having ambiguous genitalia (abnormalities of the genitalia). Some males have been found to be infertile. Research has found that the vast majority are normal males

It sounds like the chances are pretty good that everything would be OK, Take what God gives you and love them.

2007-03-02 15:47:45 · answer #7 · answered by thrill88 6 · 1 0

45 X 46 Xy Mosaicism

2016-12-16 08:43:41 · answer #8 · answered by ? 4 · 0 0

I do not think that you should abort the baby. He was given to you for a reason and he could be perftectly normal. I know someone that has a child with this and he is the sweetest child and you can not tell that there is anything wrong with him. I would also say that it depends on your personal abortion beliefs. Good luck.

2007-03-10 15:16:11 · answer #9 · answered by BeThAnY 4 · 0 0

I cant tell you what all that is or what it will mean for the baby. However, I have 5 children and I cant imagine aborting( to me that killing) a baby just because he "may" be different!
Good Luck to you and I pray you get ALL the info you possibly can before you abort because you can NEVER change that once its done.
God Bless!

2007-03-10 13:43:28 · answer #10 · answered by knight_janette 3 · 0 0

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