Mild cognitive impairment in clinical care: a survey of American Academy of Neurology members.

OBJECTIVE: To assess how neurologists view mild cognitive impairment (MCI) as a clinical diagnosis and how they treat patients with mild cognitive symptoms. METHODS: Members of the American Academy of Neurology with an aging, dementia, or behavioral neurology practice focus were surveyed by self-administered questionnaire. RESULTS: Survey respondents were 420 providers (response rate 48%), and 88% reported at least monthly encounters with patients experiencing mild cognitive symptoms. Most respondents recognize MCI as a clinical diagnosis (90%) and use its diagnostic code for billing purposes (70%). When seeing these patients, most respondents routinely provide counseling on physical (78%) and mental exercise (75%) and communicate about dementia risk (63%); fewer provide information on support services (27%) or a written summary of findings (15%). Most (70%) prescribe cholinesterase inhibitors at least sometimes for this population, with memantine (39%) and other agents (e.g., vitamin E) prescribed less frequently. Respondents endorsed several benefits of a diagnosis of MCI: 1) involving the patient in planning for the future (87%); 2) motivating risk reduction activities (85%); 3) helping with financial planning (72%); and 4) prescribing medications (65%). Some respondents noted drawbacks, including 1) too difficult to diagnose (23%); 2) better described as early Alzheimer disease (21%); and 3) diagnosis can cause unnecessary worry (20%). CONCLUSIONS: Patients with mild cognitive symptoms are commonly seen by neurologists, who view MCI as a useful diagnostic category. Information and treatments provided to patients with MCI vary significantly, suggesting a need for practice guidelines and further research on clinical decision-making with this population.

Genomic medicine: who will practice it? A call to open arms.

The Human Genome Project and other recent developments will broaden and increase the importance of genetics in health care. "Clinical genetics" will become "genomic medicine" and will no longer be almost the sole purview of genetic specialists-medical geneticists, genetic counselors, and genetic advanced practice nurses. The changing use of genetics in health care will require the acquisition of new knowledge, skills, and attitudes by many health care professionals who are not genetic specialists. Such health care professionals will not only be necessary to the widespread integration of genetics into clinical care, but they will make unique contributions to this integration that will add to the quality of genomic medicine. This new use of genetics in health care will also allow, even require, new ways of working for genetic specialists, who will continue to occupy unique and vital roles.

Pregnancy outcome when both members of a couple have balanced translocations.

BACKGROUND: Couples in which one partner is the carrier of a balanced translocation have increased risks of infertility, recurrent abortion, and delivery of chromosomally abnormal offspring. Pregnancies in which both partners carry balanced translocations are uncommon; therefore, only limited information regarding risk figures is available. We present a couple in which both members had a balanced translocation and discuss their pregnancy outcomes. CASE: A couple had three first-trimester spontaneous abortions at 12, 10, and 8 weeks' gestation, respectively. Both partners were found to be carriers of balanced autosomal translocations. The mother had a Robertsonian translocation with the karyotype 45,XX,t(13q14q). The father had a reciprocal translocation with a 46,XY,t(1;4)(q32;q25) karyotype. There was no information regarding the karyotype of the patient's first-born child with a previous partner. The patient's first-born child with her current partner carried a double balanced translocation karyotype of 45,XX,t(13;14)t(1;4). Their second and third children both had a 45,XX,t(13q14q) karyotype. CONCLUSION: Couples in which both members have a balanced translocation are at increased risk for adverse pregnancy and fetal outcomes, but precise information regarding risk estimates for this rare circumstance is limited. Genetic counseling of such couples therefore presents a unique challenge.

An assessment of teratology training provided by masters level genetic counseling programs.

The increasing demand in the clinical genetics setting for information about teratogen exposures has created a need for genetic counselors to have the capabilities to appropriately address patient concerns. In order to assess how training in teratogen counseling is currently being conducted, the GLaRGG Teratogen Subcommittee surveyed all 17 genetic counseling training programs in North America in September 1993. Information was obtained from training programs about coursework, resources, and clinical training. In addition, each training program was asked to provide information about how their teratogen training needs could better be met. While all programs responded that some information in their coursework applicable to teratogen counseling was provided, there was wide variation in the amount of time devoted to this topic. The programs also greatly differed in the provision of clinical training in teratogen counseling. For both coursework and clinical work, genetic counselors were the main trainers in teratogen counseling. In spite of this, fewer than 25% of training programs have a defined teratogen clinical rotation. Data from the survey are discussed and recommendations presented.

Postmortem chorionic villus sampling: correlation of cytogenetic and ultrasound findings.

We performed chorionic villus samplings (CVS) in 795 cases in the first trimester during a 13-month period. Of these 35 were found to have a blighted ovum or missed abortion prior to the procedure. Nineteen women consented to have CVS. Ultrasonographic and cytogenetic findings in these 19 pregnancies were correlated. Expected gestational age was determined by last menstrual period. Observed gestational age was determined by crown rump length (CRL) (12 pregnancies) or gestational sac (GS) (7 pregnancies without fetal pole). The differences in days between the estimated and observed gestational ages was determined for each pregnancy. In all 19 CVS samples cytogenetic diagnosis documented aneuploidy. Ten cases had chromosome abnormalities virtually always lethal in the embryonic period (group I). Nine pregnancies had defects with moderate potential for fetal viability (group II). Gestations with low viability potential (group I) had estimated minus observed gestational age discrepancies (23.4 +/- 8.3 days) significantly greater than gestations with moderate viability potential (group II) (8.9 +/- 4.3 days) (P less than .001). The absence of a fetal pole was more common in group I. CVS in pregnancies with missed abortion or blighted ovum is feasible and has a high likelihood of documenting aneuploidy. Furthermore, the more severe the anomaly the more likely there will be very early fetal demise or intrauterine growth retardation.

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.

We report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in association with a previously undescribed de novo interstitial deletion of chromosome 14 [karyotype: 46,XY,del(14) (q31q32.3)]. Comparison of the presented patient with previously reported cases of interstitial and terminal chromosome 14q deletions provides a group of patients monosomic for various overlapping portions of the distal half of chromosome 14q and suggests a limited similarity in phenotype among patients with common deleted 14q segments. All patients with distal 14q deletions were developmentally delayed, most were microcephalic and failed to thrive. Most of the patient's anomalies were limited to the face and head. Few major internal congenital anomalies were observed. These comparisons serve to further clarify possible associations of subchromosomal aberrations with specific phenotypes.

Postmortem chorionic villus sampling is a better method for cytogenetic evaluation of early fetal loss than culture of abortus material.

In utero chorionic villus sampling at the time of diagnosis of intrauterine fetal death is compared with more traditional use of cultured fetal skin, products of conception, or amniocentesis. A total of 102 specimens from early fetal losses were evaluated for success in karyotyping and chromosomal results. We found postmortem chorionic villus sampling is technically possible, offers the highest likelihood of getting a cytogenetic result, and is a rapid, reliable, and safe technique. The extraembryonic component of intrauterine fetal deaths appears to remain viable and continues to grow long after the embryo has died. Samples obtained at the time of diagnosis of fetal death offer the greatest changes of successfully obtaining a karyotype. The incidence of chromosome abnormalities associated with fetal loss, particularly trisomies, is higher than previous data suggested.

Determinants of parental decisions to abort for chromosome abnormalities.

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the 'severe' or the 'questionable' group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p less than 0.0001). The association of ultrasound anomalies and termination was highly significant (p less than 0.001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.

The inadequacy of the current correction for maternal weight in maternal serum alpha-fetoprotein interpretation.

The application of correction factors for maternal serum alpha-fetoprotein (MSAFP) is expected to increase the accuracy of this screening tool. Correction for maternal weight compensates for the dilution effect of a larger plasma volume in women of greater weight. We analyzed the effect of a previously published linear correction formula for weight on the frequency of abnormal MSAFP results. Serum samples from 8276 patients were studied for AFP and were grouped according to maternal weight in 50-lb increments. Abnormal results were defined as 0.4 or less or 2.5 or more multiples of the median for gestational age. Without correction, the highest rate (15%) of low MSAFP results was obtained in the obese population. Conversely, the rate of elevated MSAFP was highest (3.8%) in the lowest maternal weight group. Correction for weight up to 250 lb significantly increased the rate of abnormally high results in the obese group, indicating an overcorrection effect. The number of amniocenteses indicated for abnormal MSAFP was reduced by about 9% with weight correction. We suggest that linear correction of serum AFP results is adequate for maternal weights up to 200 lb. Results in women weighing more than this upper limit should be corrected as if the weight were 200 lb only. This balances the frequency of abnormal results in all weight groups and maintains the reduction in number of procedures performed.