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Doctor insights on: Usher Syndrome Genetics Birth Defects

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

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

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. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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

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

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. ...Read more

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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

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! ...Read more

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Can genetic testing prevent birth defects in pregnancy?

Can genetic testing prevent birth defects in pregnancy?

Nope.: Genetic prenatal testing can detect many chromosomal or microscopic dna defects - but it cannot prevent birth defects! 2-4% of all newborns will have a minor or major birth defect and the vast majority of those have unknown genetic underpinnings at this time, although many of us are working to change that. Take Folic Acid 1-5 mg daily to prevent 75-95% of major neural/cardiac fetal anomalies! ...Read more

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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?

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?

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. ...Read more

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

Rolling the dice: A woman can give birth to a ds infant at any age. The frequency varies with age @ 1/1500 from 15-29, 1/100 @40-45 and 1/50 over 45.There are some non specific screening tests available early in pregnancy to see if it is more likely, but examination of fetal cells for a chromosome count is the most accurate. ...Read more

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

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

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. ...Read more

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Can i drink reed's extra ginger brew (26mg fresh ginger) in 1st trimester? I have been for m/s, but read too much ginger can cause birth defects & m/c

Can i drink reed's extra ginger brew (26mg fresh ginger) in 1st trimester? I have been for m/s, but read too much ginger can cause birth defects & m/c

Safe in moderation: It is wise to be cautious re: the use of all herbs in the 1st trimester ; yes, too much ginger may be harmful. Research shows up to 1000 mg a day in divided doses is safe ; effective so the 26 mg in reed's ginger brew is quite safe. However, it has lots of sugar so consider making fresh ginger tea with honey to sweeten it. See http://www.Drweil.Com/drw/u/qaa400749/avoid-ginger-while-pregnant.Html. ...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. Nikolaos Zacharias
832 doctors shared insights

Congenital Abnormalities (Definition)

Congenital abnormalities, commonly known as "birth defects," are structural conditions that are present from birth. Common abnormalities include limb or facial malformations, but may ...Read more