Benefits and limitations of telegenetics: A literature review.

Telegenetics involves the use of technology (generally video conferencing) to remotely provide genetic services. A telegenetics platform is critical for those with limitations or vulnerabilities compromising their ability to attend clinic in-person, including individuals in rural areas. As the demand for remote genetics services increases, and amidst the COVID-19 pandemic with social distancing practices in place, we conducted a literature review to examine the benefits and limitations of telegenetics and explore the views of patients and health professionals utilizing telegenetics. Searches of the PubMed database identified 21 relevant primary studies for inclusion. The majority of studies found acceptability of telegenetics to be high among patients and health professionals and that telegenetics provided access to genetics services for underserved communities. The main benefits cited include cost-effectiveness and reduction in travel time for genetics services providing outreach clinics and patients who would otherwise travel long distances to access genetics. Patients appreciated the convenience of telegenetics including the reduced wait times, although a minority of patients reported their psychosocial needs were not adequately met. Eight studies compared outcomes between telegenetics and in-person services; findings suggested when comparing telegenetics patients to their in-person counterparts, telegenetics patients had a similar level of knowledge and understanding of genetics and similar psychological outcomes. Some studies reported challenges related to establishing rapport and reading and responding to verbal cues via telegenetics, while technical issues were not generally found to be a major limitation. Some service adaptations, for example, counseling strategies, may be required to successfully deliver telegenetics. Further research may be necessary to gather and examine data on how telegenetics outcomes compare to that of in-person genetic counseling and adapt services accordingly.

Measuring maternal morbidity in routinely collected health data: development and validation of a maternal morbidity outcome indicator.

BACKGROUND: As maternal deaths become rare in many countries, severe maternal morbidity has been suggested as a better indicator of quality of care. OBJECTIVE: To develop and validate an indicator for measuring major maternal morbidity in routinely collected population health datasets (PHDS). METHODS: First, diagnoses and procedures that might indicate major maternal morbidity were compiled and used to sample possible cases in PHDS; second, a validation study of indicated cases was undertaken by review of birth admission medical records using a nested case-control study approach with 400 possible cases and 800 controls; finally "true" morbidity from the validation study was used to define a maternal morbidity outcome indicator (MMOI) with a high positive predictive value (PPV). Sensitivity, specificity, PPV, negative predictive value (NPV), and exact 95% confidence intervals (95% CI) were weighted by the sampling probabilities. RESULTS: There were 1184 records available for review. Of 393 possible cases only 188 were confirmed as suffering major morbidity (weighted PPV 47.3%, sensitivity 72.9%) and of the 791 initial noncases, 787 were confirmed as noncases (weighted NPV 99.5%, specificity 98.5%). Revision of the initial indicator with exclusion of noncontributing International Classification of Disease (ICD) codes provided a MMOI with population-weighted rate of 1.5%, PPV 94.6% (95% CI: 72.3-99.9), sensitivity 78.4% (95% CI: 55.2-93.1), specificity 99.9% (95% CI: 99.5-99.9), and 99.5% agreement with "true" morbidity (kappa 0.86). CONCLUSIONS: PHDS can be used reliably to identify women who suffer a major adverse outcome during the birth admission and have potential for monitoring the quality of obstetric care in a uniform and cost-effective way.

The accuracy of population health data for monitoring trends and outcomes among women with diabetes in pregnancy.

AIM: To assess the accuracy of routinely collected population birth and hospital datasets in identifying maternal pregestational diabetes mellitus (PDM) and gestational diabetes mellitus (GDM). METHODS: Information on maternal diabetes status was obtained from the medical records of a random sample of 1200 women and compared with routinely collected, population-based birth and hospital data. PDM and GDM are reported in both databases. Sensitivity, specificity, positive predictive value (PPV), negative predictive value and the kappa statistic were determined. RESULTS: Medical records were available for 1184 of the 1200 women sampled. 0.3% of women were classified with PDM and 4.8% with GDM. 'True' PDM was under-reported and misclassified in the birth data, but all cases were reported in the hospital data. GDM was also more completely and more accurately reported in the hospital data than in the birth data. Diabetes requiring insulin was more likely to be reported than non-insulin dependent diabetes. CONCLUSIONS: Hospital data were more sensitive and accurate (higher PPVs) than birth data and these measures were not improved by ascertaining diabetes from either of the two datasets. More severe forms of diabetes were more likely to be reported than less severe.

The prevalence of maternal medical conditions during pregnancy and a validation of their reporting in hospital discharge data.

Population health datasets are a valuable resource for studying maternal and obstetric health outcomes. However, their validity has not been thoroughly examined. We compared medical records from a random selection of New South Wales (NSW) women who gave birth in a NSW hospital in 2002 with coded hospital discharge records. We estimated the population prevalence of maternal medical conditions during pregnancy and found a tendency towards underreporting although specificities were high, indicating that false positives were uncommon.

PGD gender selection for non-Mendelian disorders with unequal sex incidence.

Preimplantation genetic diagnosis (PGD) was originally developed for couples whose potential offspring were at risk of severe Mendelian disorders, but has since been extended to other indications. One possible use of PGD is to perform gender selection for couples whose offspring are at increased risk of disorders that do not follow Mendelian inheritance, but which are substantially more common in one sex than another (unequal sex incidence). Here, we examine the clinical and ethical issues to be considered prior to offering PGD gender selection to reduce the risk of a child being affected by a non-Mendelian condition with unequal sex incidence. Factors to be considered include: the risk that a child of either sex will be affected by the condition; the overall reduction in risk provided by gender selection and the potential harms of the procedure. Consideration should also be given to the interests of the family and the child to be born, the seriousness of the condition and the couple's procreative autonomy. To illustrate these issues we use the example of autism, a non-Mendelian disorder that is considerably more common in males than in females.

Getting an evidence-based post-partum haemorrhage policy into practice.

BACKGROUND: Post-partum haemorrhage (PPH) is a potentially life-threatening complication of childbirth occurring in up to 10% of births. The NSW Department of Health (DoH) issued a new evidence-based policy (Framework for Prevention, Early Recognition and Management of Post-partum Haemorrhage) in November 2002. Feedback from maternity units indicated that there were deficiencies in the skills and experience is needed to develop the written protocols and local plans of action required by the Framework. METHODS: All 96 hospitals in NSW that provide care for childbirth were surveyed. A senior midwife completed a semistructured telephone interview. RESULTS: Ninety four per cent of hospitals had PPH policies. Among hospitals that provided a copy of their policy, 83% were dated after the release of the DoH's Framework, but 22% contained an incorrect definition of PPH. Only 71% of respondents in small rural and urban district hospitals recalled receiving a copy of the Framework. There was considerable variation in the frequency of postnatal observations. Key factors that impede local policy development were resources, entrenched practices and centralised policy development. Enabling factors were effective relationships, the DoH policy directive (Framework), education and organisational issues/time. CONCLUSIONS: Greater assistance is needed to ensure that hospitals have the capacity to develop a policy applicable to local needs. Maternity hospitals throughout the state provide different levels of care and NSW DoH policy directives should not be 'one size fits all' documents. Earlier recognition of PPH may be facilitated by routine post-partum monitoring of all women and should be consistent throughout the state, regardless of hospital level.

Outcomes of external cephalic version and breech presentation at term, an audit of deliveries at a Sydney tertiary obstetric hospital, 1997-2004.

BACKGROUND: Probabilistic information on outcomes of breech presentation is important for clinical decision-making. We aim to quantify adverse maternal and fetal outcomes of breech presentation at term. METHODS: We conducted an audit of 1,070 women with a term, singleton breech presentation who were classified as eligible or ineligible for external cephalic version or diagnosed in labor at a tertiary obstetric hospital in Australia, 1997-2004. Maternal, delivery and perinatal outcomes were assessed and frequency of events quantified. RESULTS: Five hundred and sixty (52%) women were eligible and 170 (16%) were ineligible for external cephalic version, 211 (20%) women were diagnosed in labor and 134 (12%) were unclassifiable. Seventy-one percent of eligible women had an external cephalic version, with a 39% success rate. Adverse outcomes of breech presentation at term were rare: immediate delivery for prelabor rupture of membranes (1.3%), nuchal cord (9.3%), cord prolapse (0.4%), and fetal death (0.3%); and did not differ by clinical classification. Women who had an external cephalic version had a reduced risk of onset-of-labor within 24 h (RR 0.25; 95%CI 0.08, 0.82) compared with women eligible for but who did not have an external cephalic version. Women diagnosed with breech in labor had the highest rates of emergency cesarean section (64%), cord prolapse (1.4%) and poorest infant outcomes. CONCLUSIONS: Adverse maternal and fetal outcomes of breech presentation at term are rare and there was no increased risk of complications after external cephalic version. Findings provide important data to quantify the frequency of adverse outcomes that will help facilitate informed decision-making and ensure optimal management of breech presentation.

Diagnostic accuracy of clinical examination for detection of non-cephalic presentation in late pregnancy: cross sectional analytic study.

OBJECTIVE: To examine the diagnostic accuracy of clinical examination to determine fetal presentation in late pregnancy. DESIGN: Cross sectional analytic study with index test of clinical examination and reference standard of ultrasonography. SETTING: Antenatal clinic in tertiary obstetric hospital in Sydney, Australia. PARTICIPANTS: 1633 women with a singleton pregnancy between 35 and 37 weeks' gestation attending antenatal clinics. INTERVENTION: Fetal presentation assessed by clinical examination during routine antenatal care, followed by ultrasonography to confirm the diagnosis. MAIN OUTCOME MEASURES: Sensitivity, specificity, and positive and negative predictive values of clinical examination compared with ultrasonography. Diagnostic rates by maternal characteristics. RESULTS: Ultrasonography identified non-cephalic presentation in 130 (8%) women, comprising 103 (6.3%) with breech and 27 (1.7%) with transverse or oblique lie. Sensitivity of clinical examination for detecting non-cephalic presentation was 70% (95% confidence interval 62% to 78%) and specificity was 95% (94% to 96%). The positive predictive value and negative predictive value were 55% and 97%, respectively. CONCLUSIONS: Clinical examination is not sensitive enough for detection and timely management of non-cephalic presentation.

Birth outcomes for teenage women in New South Wales, 1998-2003.

BACKGROUND: Pregnancy and childbirth in teenage women are associated with obstetric and social risks, and there is evidence that the birth rate among teenagers in rural and remote areas of Australia is not in decline. The combination of non-urban residence and young age at delivery might define a subgroup of women at special risk of adverse birth outcomes. AIMS: To compare birth outcomes of New South Wales (NSW) teenagers residing in rural and remote areas with those living in larger centres with greater access to services. METHODS: Outcomes for all singleton deliveries to teenage women living in NSW during the period 1998-2003 were reviewed. The women's place of residence was assigned an ARIA (Accessibility/Remoteness Index of Australia) classification according to remoteness and access to services. Analysis included obstetric factors (such as parity), and smoking status. Logistic regression analysis was undertaken to examine the impact of maternal factors on obstetric outcomes. RESULTS: During the study period, 21 880 teenage women had singleton deliveries. Babies of teenage mothers in very remote areas had higher rates of preterm birth, small-for-gestational age and stillbirth. Rates of smoking were higher in more remote areas, and smoking correlated with preterm birth and stillbirth. CONCLUSIONS: Teenagers living in remote areas of NSW face a higher risk of adverse pregnancy outcomes than their urban cousins.

Trends in postpartum haemorrhage.

OBJECTIVE: To assess trends and outcomes of postpartum haemorrhage (PPH) in New South Wales (NSW). METHODS: A population-based descriptive study of all 52,151 women who had a PPH either during the hospital stay for the birth of their baby or requiring a re-admission to hospital between 1994 and 2002. Data were obtained from the de-identified computerised census of NSW hospital in-patients and analysed to examine trends over time. The outcome measures included maternal death, hysterectomy, admission to intensive care unit (ICU), transfusion and major maternal morbidity, including procedures to reduce blood supply to the uterus, acute renal failure and postpartum coagulation defects. RESULTS: From 1994 to 2002 both the number and adjusted (for under-reporting) rate of PPH during the birth admission increased from 8.3% of deliveries to 10.7%. The rate of PPH adjusted for maternal age and mode of delivery was similar to the unadjusted rate. There was a sixfold increase in the rate of transfusions from 1.9% of women who haemorrhaged to 11.7%. Hospital readmissions for PPH declined from 1.2% of deliveries to 0.9%. These were statistically significant changes. There were no significant changes in the rate of hysterectomies, procedures to reduce blood supply to the uterus, admissions to ICU, acute renal failure or coagulation defects. CONCLUSION: The increased rate of PPH during the birth admission is concerning. The increase in PPH could not be explained by increasing maternal age or caesarean sections. Linked birth and hospital discharge data could determine whether the increase in PPH is caused by other changes in obstetric practices or

A meta-analysis of upright positions in the second stage to reduce instrumental deliveries in women with epidural analgesia.

BACKGROUND: Epidural analgesia is associated with an increased risk of instrumental delivery. We, in this study, present a systematic review in order to assess the effectiveness of maintaining an upright position during the second stage of labor to reduce instrumental deliveries among women choosing epidural analgesia. The study population included women with uncomplicated pregnancies at term with epidural analgesia established in the first stage of labor. METHODS: We searched MEDLINE, EMBASE, and CINAHL databases and the Cochrane Trials Register up to July 2003 and cross-checked the reference lists of published studies. Trial eligibility and outcomes were pre-specified. Group tabular data were obtained for each trial and were analyzed by using meta-analytic techniques. RESULTS: Only two studies were included with data on 281 women (166 upright and 115 recumbent). Upright positions in the second stage were associated with a non-significant reduction in the risk of both instrumental delivery (relative risk (RR) = 0.77, 95% confidence interval (CI) = 0.46-1.28) and cesarean section (RR = 0.57, 95% CI = 0.28-1.16). Both studies reported a statistically significant reduction in labor duration associated with upright positions. Data on other outcomes, including perineal trauma, postpartum hemorrhage, maternal satisfaction, and infant well-being, were insufficient. CONCLUSIONS: There were insufficient data to show a significant benefit from upright positions in the second stage of labor for women who choose epidural or to evaluate safety aspects. However the magnitude of the reductions in instrumental delivery and cesarean section warrants an adequately powered randomized, controlled trial to fully evaluate the practice of upright positions in the second stage for women with an epidural.

A simple patient-initiated intervention to increase antenatal detection of breech presentation at term.

Antenatal detection of breech presentations at 35-37 weeks is necessary to allow adequate time for decision making about external cephalic version (ECV) and/or caesarean section. This study aimed to increase antenatal detection of breech presentation and referral for ECV using an inexpensive patient prompt (a simple brochure encouraging pregnant women to ask how their baby is presenting) and posters reminding clinicians to assess presentation. The interventions were evaluated using a before-after (single time series) study design. The records of women who had a breech presentation in late pregnancy were audited for 12 months before (n = 122) and 12 months after (n = 129) the introduction and implementation of the intervention. There was a statistically significant increase in women with a breech presentation who were assessed antenatally for ECV eligibility, from 75 (61%) before the intervention to 100 (78%) after the intervention. In the before-intervention period, 55 (60%) were identified as eligible for ECV and of these 32 (58%) had an ECV. After the intervention, 80 (75%) were identified as eligible for ECV and 46 (58%) had an ECV. A number of unanticipated events occurred during the study period, so although there was better identification of women eligible for ECV during the after-intervention phase we cannot be sure whether this is an intervention effect or attributable to other reasons. Further, there was no increase in the uptake of ECV nor a reduction in caesarean sections for breech presentation. The difficulties associated with before-after studies are highlighted.