Carrier diagnosis of the fragile X syndrome - a challenge in antenatal clinics

Article Abstract:

Screening for fragile X syndrome could potentially reduce the incidence of mental retardation. Fragile X syndrome is a common inheritable cause of mental retardation. The odds of retardation relate to the number of repeating segments within the gene. The risk of retardation is low when a person has the premutation, which occurs when there are 50 to 200 repeats. Above 200 repeats, which is considered full mutation, the risk is high. Testing was offered to 515 people with at least a 12.5% likelihood of carrying the premutation or full mutation. Sixty-six people had the full mutation and 163 had the premutation. All 21 pregnant carriers had a chorionic villus biopsy, which identified nine embryos with the full mutation and three with the premutation. All pregnancies with the full mutation were terminated.

Evaluation, Diagnosis, Genetic screening, Genetic testing, Fragile X syndrome

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Understanding the underlying metabolic abnormalities of polycystic ovary syndrome and their implications

Article Abstract:

Women with polycystic ovary syndrome have other metabolic abnormalities that predispose them to diabetes. Polycystic ovary syndrome is a disorder of ovulation that can cause infertility. About half of all women with polycystic ovary syndrome are obese. At least half also have insulin resistance, which means that their body has to produce more insulin than normal to metabolize sugar. About 20% have glucose intolerance or diabetes, compared to 5% of healthy women. Insulin resistance is also linked to an increased risk of heart disease.

Cardiovascular diseases, Complications and side effects, Risk factors, Insulin resistance

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Relationship of the metabolic syndrome and obesity to polycystic ovary syndrome: a controlled, population-based study

Article Abstract:

Most women with metabolic syndrome do not have polycystic ovary syndrome. Metabolic syndrome is the name given to a group of risk factors for heart disease, including obesity, hypertension, high cholesterol, abnormal blood sugar metabolism and high blood levels of insulin.

Health aspects, Metabolic diseases

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