Top
10
Doctor insights on: Chromosomal Abnormalities Congenital Abnormalities

Share
1

1
Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?

Does slow rising hcg, if pregnancy turns out to be viable, indicate a chromosomal abnormality that could result in child with birth defects?

Possibly: Healthy and viable pregnancies usually double the value of the HCG hormone every 48 hours. There are many tests that are used now to predict and/or define fetuses with chromosomal abnormalities. Because of your age these tests should be offered and considered. ...Read more

Dr. Richard Roberts
57 doctors shared insights

Congenital Malformation (Definition)

Congenital malformation is aphysical defect present in a baby at birth that can involve many different parts of the body, including the brain, heart, lungs, liver, bones, and intestinal tract. Congenital malformation can be genetic, it can result from exposure of the fetus to a malforming agent (such as alcohol), or it can ...Read more


2

2
What are some chromosomal abnormalities that only affect female fetuses?

What are some chromosomal abnormalities that only affect female fetuses?

Female: Turner's syndrome, caused by only 1 x chromosome only affects females. More than two copies of the x chromosome only affects females. ...Read more

3

3
Are chromosomal abnormalities, such as trisomy, confined to certain parts of the body?

Are chromosomal abnormalities, such as trisomy, confined to certain parts of the body?

Usually: The vast majority of trisomy patients will have the trisomy in every cell of their body. There is a small percentage that will be what is called a mosaic, where the trisomy effects a fraction of the cells. In theory the trisomy starts in one group of cells and continues to all that develop after the change, but another normal line also produces normal tissues. The amount affects the outcome. ...Read more

See 1 more doctor answer
4

4
Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Yes: Some of the physical signs of edwards syndrome are non-specific, that is, shared by other syndromes, with or without chromosomal abnormalities. No one sign is diagnostic, and several signs could be present in a child with normal chromosomes and without its having edwards syndrome. ...Read more

See 1 more doctor answer
5

5
What to do if I had 1 egg put back inside me. the other 2 had chromosomal abnormalities. I am scared they got them mixed?

What to do if I had 1 egg put back inside me. the other 2 had chromosomal abnormalities. I am scared they got them mixed?

Anxiety: Labs have many back up systems so things like that don't happen. I don't otherwise know how to allay your anxieties about this. There are no 100% guarantees in life. You can ask your IVF doctor if they can do chorionic villous testing, but this has risk to it, and then you must be willing to live with the findings or be able to decide to end the pregnancy if abnormalities if that is what you want. ...Read more

6

6
What do you advise if i had 1 egg put back inside me. The other 2 had chromosomal abnormalities. I am scared they got them mixed?

What do you advise if i had 1 egg put back inside me. The other 2 had chromosomal abnormalities. I am scared they got them mixed?

Anxiety: Labs have many back up systems so things like that don't happen. I don't otherwise know how to allay your anxieties about this. There are no 100% guarantees in life. You can ask your IVF doctor if they can do chorionic villous testing, but this has risk to it, and then you must be willing to live with the findings or be able to decide to end the pregnancy if abnormalities if that is what you want. ...Read more

7

7
What's it mean to have congenital abnormalities?

What's it mean to have congenital abnormalities?

Please see below.: Congenital abnormalities are physical differences in the body that are present at birth;each body part has the potential to have an anomaly.Some are genetic, some are due to things that happen in the womb, & some happen for unknown reasons.These differences can vary from minor anomalies (like an extra finger or an ear tag) that don't affect function, to major defects that can be fatal. ...Read more

See 1 more doctor answer
8

8
Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...Read more

9

9
How do people treat chromosomal abnormalities?

How do people treat chromosomal abnormalities?

Chromosomal Abnormal: Chromosomal abnormalities is a broad category. It means there is some gene or genes that are missing or extra. Depending on the particular chromosome affected is the kind of therapy needed. This usually is not something fixed but you can offer modalities to strengthen the weak areas. Usually physical therapy occupational therapy and speech. You work on the problems caused by the abnormality. ...Read more

See 1 more doctor answer
10

10
What chromosomal abnormalities only effect males?

What chromosomal abnormalities only effect males?

Males: Well, klinefelter's syndrome caused by an extra x chromosome only affects males. Extra y chromosomes only affect males. ...Read more

Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more


Dr. Jay Nemiro
67 doctors shared insights

Chromosomal Abnormalities (Definition)

Chromosomal abnormalities are conditions caused by an abnormal structure or number of chromosomes, leading to an abnormal expression of genetic material. Common abnormalities include Down Syndrome (Trisomy ...Read more