Analysis of indications for referral to a multidisciplinary medical genetics clinic: implications for training programs in obstetrics and gynecology

Article Abstract:

Modern techniques of genetic analysis make it possible for rational decisions to be made where once only chance ruled. These new opportunities for decision making on the part of prospective parents require the availability of genetic counseling services. The US Air Force Medical Center Keesler has a complete cytogenetic laboratory, and is staffed by personnel qualified in clinical genetics, obstetrics and gynecology, and pediatrics. The experience of the Center is especially valuable in that patients are drawn from a wide geographical area. In an analysis of 1,237 patients, the greatest single reason for referral was increased risk of genetic abnormalities, representing 48 percent of all genetic counseling referrals. Developmental consultations for risks such as neural tube defects, cleft palate, and epilepsy, which in general are not attributable to a single gene or chromosome defect, accounted for 20 percent of the referrals. Single gene defects accounted for 17 percent of the total. Although the frequency of most individual single gene defects is low, there are a great many which must be considered. Examples are Marfan syndrome, hemophilia, cystic fibrosis, Huntington's disease, and sickle-cell anemia. Prenatal exposure to teratogens, substances which may cause harm to the developing embryo and fetus, accounted for 5 percent of the total number of referrals. The remainder of the cases were miscellaneous genetic consultations in which there may have been a history of abnormal births, but where there was no definitive diagnosis or known cause. At the Keesler Center, medical students, third year obstetric residents, and the majority of pediatrics residents spend at least four weeks on the genetics service, which provides an excellent opportunity for broadening residency training. (Consumer Summary produced by Reliance Medical Information, Inc.)

Services, Genetic aspects, Study and teaching, Birth defects, Genetic disorders, Chromosome abnormalities, Medical genetics

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Intrapartum maternal glucose infusion reduces umbilical cord acidemia

Article Abstract:

Intravenous fluids containing glucose may be preferable to those not containing glucose for women in active labor. Umbilical cord blood analyses were performed on 48 infants of women given intravenous glucose during active labor and 43 similar infants of women given intravenous fluids not containing glucose. Blood pH tended to be more acidic and carbon dioxide levels were higher in infants of mothers not given glucose compared to those given glucose. Other comparisons were not significantly different between the two infant groups.

Care and treatment, Pregnant women, Dosage and administration, Labor (Obstetrics), Acidosis, Glucose

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Prenatal diagnosis of 47,XXX

Article Abstract:

A study is conducted which reports two cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

United States, Management dynamics, Diagnosis, Down syndrome, Company business management, Sex chromosome abnormalities, Genetic counselling, Triplo X syndrome

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