Pregnancy Planning (cont.)Medical Author:
Melissa Conrad Stöppler, MD
Melissa Conrad Stöppler, MDMelissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology. Medical Editor:
William C. Shiel Jr., MD, FACP, FACR
William C. Shiel Jr., MD, FACP, FACRDr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology. In this Article
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 Downs 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. Patient CommentsViewers share their comments
Pregnancy Planning - Lifestyle Changes
Question: Please describe the changes you have made to your lifestyle with preparation for becoming pregnant.
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