PubMed · 12322633
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A Farmer. What does Beijing Plus Five equal?. https://pubmed.ncbi.nlm.nih.gov/12322633/
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Fragile X syndrome (FXS) is the leading cause of inherited mental retardation, affecting approximately 50,000 persons in the United States. FXS occurs when a mutation on the X chromosome is passed from mother to child. Preliminary data suggest that children affected by FXS experience a delay in diagnosis, a pattern common to other single-gene disorders. The molecular test used to definitively diagnose FXS became available in 1991. The first indication of FXS within a family is usually the diagnosis of FXS in a child. Although no proven treatments exist for FXS, prompt diagnosis enables children to receive early intervention services and families to receive genetic counseling. To assess the timing of a diagnosis of FXS in an affected child and genetic counseling for the family, the Frank Porter Graham Child Development Institute (University of North Carolina at Chapel Hill) conducted a survey during August-October 2001 of 140 parents whose first child affected by FXS was born and had the condition diagnosed during 1990-1999. This report summarizes the results of that survey, which indicate that approximately half of the families did not learn the diagnosis for more than a year after first concerns about their child's development or behavior, and half reported having subsequent pregnancies before FXS was diagnosed in their first child. These findings emphasize the importance of increased opportunities for early diagnosis so children and families can receive all possible benefits, including genetic counseling and intervention services.
Reproductive behaviour in modern western society has changed dramatically in the last two decades. Parenthood is now well planned. If planned pregnancies do not occur as expected, early infertility care is often demanded with the risk of over-treatment. Live birth rates in untreated subfertile couples reach nearly 55% in 36 months. During this period, self-monitoring with natural family planning (NFP) methods may be all that is necessary, especially in couples with unexplained infertility.
A study was conducted in central Vietnam to measure the prevalence of reproductive tract infections among clients of a family planning clinic, and to determine the usefulness of simple, clinic-based diagnostic tests. The prevalence of such infections was moderate, with the majority being endogenous. Few cases of cervical infection were identified, and no clinical or sociodemographic variables proved to be good predictors of such infection. Most vaginal infections could be identified through simple, clinic-based diagnostic tests, although further research into the cost-effectiveness of establishing and maintaining these services would be useful. Comparison of the results from laboratory tests and the presumptive diagnosis of the clinician indicate that the current practice of presumptive treatment is leading to significant overtreatment. Use of the World Health Organization flowcharts would reduce the overtreatment of vaginal infection but not of cervical infection. The importance of adapting the flowcharts to local epidemiology is highlighted.