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Doctor insights on: Family History Genetics Birth Defects

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Late 30s couple ttc for 1st time. No family history of autism/downs & both fit & healthy. What is % of risk for autism/birth defects?

If you'll be 39 at : Delivery, the chance to have a child diagnosed with Down syndrome at birth is 1 in 137 (a little < 1%); the chance to have a child diagnosed with any chromosome abnormality (including down syndrome) at birth is 1 in 83 (slightly > 1%). Autism risks ? with paternal age, low maternal folate (folic acid) levels esp. At conception-10 wks. & some prenatal infections like rubella or flu. Ask your OB @ screening. ...Read more

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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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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

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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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First baby born with birth defects and died after delivery.Will second one have same problem.Nobody has defects in the family?

First baby born with birth defects and died after delivery.Will second one have same problem.Nobody has defects in the family?

More info needed: I would add that it depends on the type of defects present and whether the risk is based in genetic inheritance. If there was a pregnancy related cause, your OB Gyn physician can further advise. Many healthy infants are born to mothers with a similar history, but more information is needed to answer. ...Read more

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If a mother has a history of genital herpes, what are the odds of a baby having birth defects both for c-section and vaginal birth?

If a mother has a history of genital herpes, what are the odds of a baby having birth defects both for c-section and vaginal birth?

Mild increased risk.: Genital herpes is of major concern when a primary infection develops immediately before/during/after labor. In those rare cases, vertical transmission of the pathogenic virus to the neonate can occur with vaginal delivery via the infected birth canal - but birth defects are not anticipated (only if first trimester transplacental infection). In chronic carriers, the risk of transmission is very low. ...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

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Can certain foods and drink cause birth defect?

Can certain foods and drink cause birth defect?

YES, ...Some causes:: Alcohol; excessive caffeine; mercury: shark, swordfish, king mackerel, tilefish have highest amounts of mercury, can cause brain damage). Bluefish, striped bass, salmon, pike, trout, and walleye: high contamination of polychlorinated biphenyls. Some fish used for sushi; herbicides used in vegetables (e.g. Glyphosate used in genetically modified soy bean), low Folic Acid containing food. ...Read more

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How can I know if my baby will have birth defects or deformities?

How can I know if my baby will have birth defects or deformities?

Ultrasound: Ultrasounds and genetic screening in pregnancy can identify many abnormalities before a baby is born. There are limitations to the screening though, neither test is capable of identifying every possible problem, but are good for picking up major problems. ...Read more

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Family History (Definition)

A family history consists of information about disorders suffered by the relatives of a patient. The history can help the patient identify diseases that he or she may be susceptible to, and help the patient to ...Read more


Dr. Nikolaos Zacharias
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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