About Newborn Screening Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth. With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are rare and …
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Prenatal Genetic Counseling
If you and your partner are newly pregnant, you may be amazed at the number and variety of prenatal tests available to you. Blood tests, urine tests, monthly medical exams, screening tests, and family history tracking — each helps to assess the health of you and your baby, and to …
Tay-Sachs Disease
Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, hexosaminidase A (HEXA). So, as those fatty proteins build …
Thyroid Disease
The thyroid is a small gland located below the skin and muscles at the front of the neck, just at the spot where a bow tie would rest. It’s brownish red, with left and right halves (called lobes) that look like a butterfly’s wings. It’s light like a butterfly, too, …
Turner Syndrome
Turner syndrome, a medical disorder that affects about 1 in every 2,500 girls, is a genetic condition in which a female does not have the usual pair of two X chromosomes. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function. …
What Is Epigenetics?
I have heard a little about “epigenetics” and how the genes of even great-grandparents can affect their descendants. But it seems complicated — can you explain the basics? – Leona Transgenerational epigenetic inheritance — or epigenetics, for short — doesn’t exactly roll off the tongue. Yet this idea that environmental factors …
Acanthosis Nigricans
Acanthosis nigricans (ah-kan-THO-sis NY-gruh-kans) is a skin condition. It causes thicker and darker patches or streaks around joints and body areas with many creases and folds (such as knuckles, armpits, elbows, knees, and the sides and back of the neck). Some people also develop acanthosis nigricans on their palms, groin, lips, …
Can Diabetes Be Prevented?
Parents want to protect their kids from everything, which is virtually impossible, of course. But can you prevent your child from getting diabetes? About Diabetes Diabetes is a disease that affects how the body uses glucose, the main type of sugar in the blood. Glucose, which comes from the foods …
Failure to Thrive
Most kids steadily gain weight and grow quickly within the first few years of life. But in some cases, kids don’t meet these expected standards of growth. When this happens, it’s called “failure to thrive.” Doctors say children “fail to thrive” when they don’t gain weight as expected. Often, these kids also …
Intrauterine Growth Restriction (IUGR)
Babies come in all sizes. Some are just naturally larger or smaller than others. But in certain cases, babies in the womb are smaller than they should be. When this happens, it is called intrauterine growth restriction, or IUGR. About IUGR IUGR is when a baby in the womb fails to …