Question 1

sickle cell anemia:is this birth defect only due to genetics?

Accepted Answer

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part.

Question 2

what genetic birth defects are associated when two first cousins have a baby?

Accepted Answer

Autosomal recessive: There is increased risk of autosomal recessive type genetic disorders when close family members have a baby together.  There are many of them but some examples include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.

Question 3

is clinodactyly a genetic disorder, birth defect?

Accepted Answer

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself!

Question 4

can genetic testing prevent birth defects in pregnancy?

Accepted Answer

No: First genetics are responsible for only some birth defects.  Second the genetic tests that are usually done in pregnancy are for chromosomal problems (like down's syndrome), not for single gene problems or genetic syndromes.

Question 5

if you have 2 healthy children, does that lower your chances of having a child with down syndrome or other birth defect?

Accepted Answer

No: The most significant risk factor for down's syndrome is the mother's age. Please speak to your doctor about the pros and cons and risks to you and the baby of conceiving at the age of 43.

Question 6

if your are infected with chlamydia, can that cause birth defects in the child? even if i get treatment to cure it. could it cause down syndrome?

Accepted Answer

Only if untreated.: Chlamydia infection is of no risk to the fetus if treated properly (that includes your sexual partner). It has nothing to do with down syndrome. If left untreated or undiagnosed or recurrent at the time of delivery then ophthalmia neonatorum with trachoma can develop with severe consequences for the infant's eyesight. That's why Erythromycin ointment is applied to all newborns' eyes prophylactical.

Question 7

my parents were cousins & my brother had down syndrome. now i am too getting married to my cousin soon, are there any birth defect risks in our future babies, how to prevent those risks ?

Accepted Answer

Prevent=don't marry: Down syndrome is a random event &amp; has nothing to do with their cousin status. We each have recessive genes to an estimated 3-5 potential metabolic problem like PKU and the closer a kinship, the more chance an offspring from that pairing would have a recessive genetic disease. This is highest if a parent fathers a child with a daughter, and the risk declines the further away the relationship goes

Question 8

ob said based on my blood protein checking for risk of birth defects like down syndrome or spinabifida my risk is 1 out of 189. is this a high risk?

Accepted Answer

Relative: You need to simply take that information and realize that there is a 188 out of 189 chance all will be fine. Many ob's can have you discuss with counselors as knowing the relative risk of birth defects can be anxiety causing, and they can often discuss the results with you in better detail as needed.  Best wishes.

Question 9

helo dr. i had 2 abortions due to birth defects. please help me how to avoid birth defects and down symdrome in next pregnancy.

Accepted Answer

Birth Defects: It is not possible to avoid birth defects altogether. However, many of the birth defects can be diagnosed prenatally - i.e. Early parts of pregnancy.  In vitro fertilization is another option where embryos can be screened for birth defects before implantation. These options may not be acceptable for some people with certain religious background.

Question 10

is genetic counseling an option for williams syndrome?

Accepted Answer

Confusing question: I believe genetic counselling is a worthwhile investment for anyone considering pregnancy. Analysis of the family tree on both sides will occasionally turn up some interesting problems, in addition to any previous issue with a pregnancy. All pregnancies have ~ 4% risk of unexpected outcome (premi,defect, illness, etc.) and knowing what your added risks are and ways to monitor them make sense.

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Doctor answers about:

Williams syndrome genetics birth defects

A member asked:

Sickle cell anemia:is this birth defect only due to genetics?

A member asked:

What genetic birth defects are associated when two first cousins have a baby?

A member asked:

Is clinodactyly a genetic disorder, birth defect?

A member asked:

Can genetic testing prevent birth defects in pregnancy?

A member asked:

If you have 2 healthy children, does that lower your chances of having a child with down syndrome or other birth defect?

A member asked:

If your are infected with chlamydia, can that cause birth defects in the child? even if i get treatment to cure it. could it cause down syndrome?

A member asked:

My parents were cousins & my brother had down syndrome. now i am too getting married to my cousin soon, are there any birth defect risks in our future babies, how to prevent those risks ?

A member asked:

Ob said based on my blood protein checking for risk of birth defects like down syndrome or spinabifida my risk is 1 out of 189. is this a high risk?

A member asked:

Helo dr. i had 2 abortions due to birth defects. please help me how to avoid birth defects and down symdrome in next pregnancy.

A member asked:

Is genetic counseling an option for williams syndrome?

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