Amnio & CVS tests resulted in fetal male with 45X/46XY mosaicism(chromosomal abnormality). should we abort??

Question

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.

Answer 1

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?

Answer 2

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?

Answer 3

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.

Answer 4

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.

Answer 5

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.

Answer 6

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!

Answer 7

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.

Answer 8

45 X 46 Xy Mosaicism

Answer 9

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.

Answer 10

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!

Answer 11

WELL you shouldnt blame yourself and let life run its course .... there are many children with special needs and body ailments and they are the most loving and cherished people ..because they are pure they know the true meaning of love and dont let that make you end that little persons life... its a mile stone and i know that it may seem hard and impossible to deal with at times but you can do it because you will look in to that childs eyes and see the love they have for you...

please dont abort... this little life form needs to show the world its many talents and love...

Answer 12

Whether you abort or not is totally up to you...no one can tell you what you should or shouldn't do. However if you live here in the U.S. you'd better make up your minds fast because after 22 weeks it will be too late. It is against the law to abort after 22 weeks in the U.S. and no reputable doctor or clinic will risk their licenses to to so.

Answer 13

You I think now that technology has changed over the past 30 years, that parents, doctors have ways of dealing with your situation.



There are ways of young adults dealing with what personal things they have going on with there lives. All you can do is be willing, accepting..just cross bridges when it gets there.



I know people and kids are very cruel and we can't change them all we can do as parents is teach our own children right & wrong.....



Good Luck!

Answer 14

no dont abort i opet out of this test because my doctor explained to me that false positive are very common and do nessicerly mean there is an abnormality also that if there is one that it could possibly correct itself on its own and trun out to be perfectly healthy.



also if there is an abnormality most babies lead a perfectly normal life (although they may have a disablitly) it does not cut down on there quality of life.

Answer 15

i did the cvs test, and they told me that i had a 1:10 chance that my child would have down or trisomy 18. they did a level II ultrasound, and told me that they found something in his bowels that showed he could have this disorder. they tried everything to convince me to get the amnio test. i chose not to. months later, i had a healthy baby boy. no down or trisomy 18. wat im trying to say is that its completely up to you. in this really hard decision, you have to look at every aspect. when you make your choice, make sure its yours, not the doctors or people you dont know. i wish you the best of luck. god bless.

Answer 16

I don't have any fancy medical answer for you just the advice of a mother of 4, I wouldn't do it, that is a living baby inside of you, and unless your life is in jeopardy due to this pregnancy, then the choice is simple, you take what you get and you love that child no matter what. do you really want to spend the rest of your life wondering "what if?"

Answer 17

By no means....NO! Those test are not always acurate. Too many people report abnormalties in this test only to find that at birth they had a perfectly normal baby. Not worth the risk. There is a place called CHASK...check it out!

LK

Answer 18

I can't tell you what to do, you need to talk to the genetics counselor. I will say I've read plenty of stories of parents of children with genetic problems, and of the ones I remember they never regret having their child.

Answer 19

that is a tough question that only u can decide we can offer addvise to what we would do.i think yes i would terminate the pregnacy after i spoke with the genetic counselor.or somebody else responds who is going threw this same situation.good luck with your decission.. i hope all works out for the best

Answer 20

thats a tough one only u can decide