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November 22, 2009
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Pregnancy Planning (cont.)

What inherited (genetic) diseases can play a role in pregnancy planning?

Certain diseases, such as Tay-Sachs, sickle cell anemia, hemophilia, cystic fibrosis, and certain neurological diseases are genetically inherited. Healthy couples with family histories of these conditions may themselves be carriers of these genetic traits. Blood tests can be performed to screen for certain genetic traits prior to conceiving. Genetic counseling is given to couples who may carry genetic diseases as part of pregnancy planning.

Older women have an increased risk of having babies with chromosome abnormalities, leading to cognitive disabilities and other birth defects. Chromosomal abnormalities (like Down's syndrome ) can lead to birth defects and cognitive disabilities. Pregnant women older than 35 years may consider amniocentesis to detect these chromosomal abnormalities. During amniocentesis, amniotic fluid samples are aspirated from the womb. Chromosome analysis can be performed on fetal cells within the amniotic fluid.

Phenylketonuria is an inherited disease that affects the utilization of a certain protein component in foods. This disorder can be detected by a blood test. Mothers with phenylketonuria may give birth to developmentally disabled children unless their diets are strictly controlled to exclude phenylalanine.



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Pregnancy Planning: Lifestyle Changes Made in Preparation

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