tailieunhanh - Genetic Screening and Counseling

When the first edition of Genetic Screening and Counseling was published in 2002,1 the draft of the human genome had just been declared Since then, the sequence has become nearly finalized, and the focus is turning to translation of this information to the bedside. The genomics era is increasingly bearing fruit and promises a paradigm shift in research and medical practice. To the clinician, counseling and genetic diagnoses will become an increasing part of daily practice. The generalist obstetrician/gynecologist is included | Genetic Screening and Counseling Contents Foreword xiii William F. Rayburn Preface Genetic Screening and Counseling xv Anthony R. Gregg and Joe Leigh Simpson Contemporary Genetic Counseling 1 Janice G. Edwards Genetic counseling is a specialty service integrally related to obstetrics and gynecology. This article discusses the genetic counseling resources available to the obstetrician gynecologist including contact with referral centers near their practice and web-based resources for current genetic information. Indications for genetic counseling that incorporate new approaches and technologies are highlighted. Newborn Screening for Treatable Genetic Conditions Past Present and Future 11 Susan Hiraki and Nancy S. Green Newborn screening is a complex public health program that has been very successful at significantly reducing infant morbidity and mortality from specific genetic conditions. As this program continues to expand the role of the obstetrician as patient educator has become increasingly important. The need and desire for prenatal education about newborn screening has been demonstrated and obstetricians are in the prime position to satisfy this vital role. Spinal MuscularAtrophy Newborn and Carrier Screening 23 Thomas W. Prior Spinal muscular atrophy SMA is a common autosomal-recessive neuromuscular disorder caused by mutations in the survival motor neuron SMN1 gene affecting approximately 1 in 10 000 live births. The disease is characterized by progressive symmetric muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brainstem nuclei. The management of SMA involves supportive and preventive strategies. New treatments based on increasing the expression of full-length SMN protein levels from the SMN2 gene are being investigated and may be dependent on early detection of the disorder before the irreversible loss of motor neurons. This article focuses on the prevention of SMA through population carrier .