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Biomedical subjects

S J Ralston

Publications and source records attributed to S J Ralston.

10 recordsLinked to original sources

Pregnancy outcomes after prenatal diagnosis of aneuploidy.

OBJECTIVE: To determine the benefits of antenatal diagnoses of fetal aneuploidy in women who continued their pregnancies. METHODS: A questionnaire was mailed to 51 mothers of children with aneuploidy. Women whose fetuses were diagnosed prenatally comprised the study group and those whose infants were diagnosed at birth were controls. Outcomes measured included an assessment of pregnancy management, neonatal outcome, subjective measures of depression and anxiety, and evaluation of women's emotional and physical experience of the pregnancy. For outcomes measured by nonparametric survey questions, 20 women were needed in each arm to achieve a power of 80% to detect a 2-point difference on a 6-point scale; for our neonatal outcomes, 100 women were needed in each arm to achieve 80% power to detect a difference in length of stay (less than 1 week versus greater than 1 week) or need for surgery. RESULTS: Thirty-eight women (75%) responded. Most (86%) had children with trisomy 21. Seventeen women (45%) received their child's diagnosis at birth; 21 (55%) had prenatal diagnoses. Demographic measures were similar except that women with prenatal diagnoses attended religious services more frequently (1--3 times per month versus once to several times per year, P =.04). Women with prenatal diagnosis had better perceptions of their physical experience of pregnancy (median score of 10 versus 6 on a 10-point visual analog scale, P =.005) and their emotional experience of the birth (median score of 7.5 versus 2, P =.001). Mental Health Inventory scores were similar between groups. Neonates without prenatal diagnoses were more likely to be transferred to tertiary centers after birth (70% versus 24%, P =.004); lengths of hospital stays and need for surgery were similar. Seventy-one percent (95% confidence interval [CI] 48, 89%) of women with prenatal diagnoses said they would have done nothing differently in the pregnancy compared with 29% (95% CI 10, 56%) of women with diagnoses at birth. CONCLUSION: Early knowledge of fetal aneuploidy is beneficial to women who continue their pregnancies. These results might be useful when counseling women who do not intend to terminate abnormal pregnancies, but are considering prenatal diagnosis.

Abortion, Therapeutic↗

Latent class analysis applied to patterns of fetal sonographic abnormalities: definition of phenotypes associated with aneuploidy.

The aim of the present study was to generate different latent variables that classify the major chromosome aneuploidies using frequency and patterns of fetal sonographic abnormalities in a large database. A total of 1867 fetuses with sonographic abnormalities recorded in a database at New England Medical Center from January 1995 to March 1998 were available for the statistical analysis. Included within this group were 61 aneuploid fetuses, including 11 with 45,X, 30 with trisomy 21, 14 with trisomy 18 and 6 with trisomy 13, 40 structural malformations and/or sonographic markers were detected in these 61 aneuploid fetuses. The ability of malformations and sonographic markers to generate different groups of phenotypes was evaluated by means of latent class analysis, using the 61 affected cases. Four different classes were generated with the hypothetical assumption that each of them could satisfactorily identify a respective fetal aneuploidy represented in the study group. Among 40 fetal malformations and/or sonographic markers, the most important findings in generating specific karyotypic groups were cystic hygroma (class 1), duodenal atresia (class 2), holoprosencephaly (class 3) and omphalocele (class 4), respectively. Accuracy of the classification was 72 per cent for Turner syndrome (class 1), 74 per cent for Down syndrome (classes 1 and 2), 88 per cent for trisomy 13 (class 3) and 93 per cent for trisomy 18. The frequency of associated malformations detected sonographically can help to define a phenotype that is likely to be representative of a specific aneuploidy. Before the definitive karyotype is available or, in cases in which patients refuse an invasive prenatal diagnostic procedure, this may improve antenatal clinical management.

Aneuploidy↗

Liver hematoma and rupture in pregnancy.

Liver hematoma and rupture is a rare but devastating complication of pregnancy. The majority of cases have been associated with severe preeclampsia, but unlike typical preeclampsia, it is a disease of older, multiparous patients. Although there are predictable findings on liver pathology, the underlying pathophysiology is poorly understood. Early recognition and prompt surgical intervention are crucial to reduce the high fetal and maternal mortality rate associated with this disease.

Female↗

Cuffed nasopharyngeal tube as 'dedicated airway' in difficult intubation.

A cuffed nasopharyngeal airway was used in five cases of difficult intubation, initially to maintain anaesthesia, and subsequently to act as a landmark for the passage of a fibreoptic laryngoscope loaded with a tracheal tube. In all cases, airway patency was well preserved with the device and there were no significant problems with its use. The notion of a 'dedicated airway' for difficult intubation cases is developed. A trouble-free airway will permit time to consider solutions for difficult cases and time for the novice to learn fibreoptic laryngoscopy technique.

Anesthesia, General↗

Use of EMLA cream for skin anaesthesia prior to epidural insertion in labour.

The efficacy of the use of EMLA cream to provide skin anaesthesia prior to the insertion of 16 G Tuohy needles was assessed. Sixty women in labour were randomly allocated to receive either EMLA cream over the proposed epidural site for a minimum period of 5 min (mean 9.1 min), a skin bleb and subcutaneous injection of lignocaine 2% (1 ml), or a skin bleb with additional lignocaine 2% (2 ml) infiltrated into the supra- and interspinous ligaments using a 23 G needle. Once the epidural catheter was sited, using a standard technique, 10 cm visual analogue pain scales were completed independently by the patient, by a blinded midwife and by the anaesthetist siting the epidural. Patients' perception of pain was not significantly different in any of the three groups, although the mean pain score was least in the group receiving full infiltration. The anaesthetists consistently underestimated the patients' perception of pain.

Administration, Topical↗

Pediatric acquired immunodeficiency syndrome: an unusually high incidence of twinning.

Surveillance data on incidence of twins among reported cases of pediatric AIDS in New York City are presented. Most pairs are concordant for HIV infection. Three discordant pairs have been described elsewhere. Possible reasons for the association are discussed, including the most likely explanation that twins show symptoms early and are overrepresented in the early years of surveillance of pediatric AIDS.

Acquired Immunodeficiency Syndrome↗