High-resolution microarray in the assessment of fetal anomalies detected by ultrasound.

AIMS: The main aim of this study was to determine the feasibility of using high-resolution microarray to assist with prenatal diagnosis of ultrasound-detected fetal abnormality and to describe the frequency of abnormal results in different categories of fetal anomalies. METHODS: Prospective cross-sectional study was conducted on women diagnosed with a fetal anomaly (ies) between February 2009 and December 2011 who were offered testing by microarray analysis (Affymetrix 2.7M SNP) and fluorescent in situ hybridisation (FISH) instead of standard karyotyping. Fetal anomalies were categorised according to organ system involvement. RESULTS: One hundred and eighteen women consented to testing with microarray. Eleven of one hundred eighteen (9.3%) cases had aneuploidy detected by FISH. Of the remaining 107, 23 (21.5%) had an abnormality detected on microarray, only three of which would have been detected using the combination of six-probe FISH and banded karyotype. The maximum expected yield for six-probe FISH and karyotype was thus 14/118 (11.8%), compared to 34/118 (28.8%), P < 0.0001. Of the 23 abnormalities detected with microarray, 10 (43%) were pathogenic, six (26%) were long continuous stretches of homozygosity and seven (30%) were of uncertain significance. The maximum yield was in cases with cardiovascular (100%); multiple (40%); central nervous system (CNS) (25%) and skeletal (9%) abnormalities. CONCLUSION: This study has confirmed the feasibility of translation of microarray into clinical practice. 11.8% (14/118) of the cases would have a genetic basis of an abnormality with a FISH and banded karyotype. This figure is approximately tripled to 28.8% (34/118) if we offer FISH and microarray. High yield for imbalances are multiple, cardiovascular, CNS and skeletal abnormalities.

Feasibility of implementing magnesium sulphate for neuroprotection in a tertiary obstetric unit.

BACKGROUND: It is important to establish whether research recommendations regarding magnesium sulphate for neuroprotection can be readily translated into clinical practice and achieve the dual objectives of good coverage of the target group, while minimising unnecessary or prolonged exposure to treatment. METHODS: This retrospective cohort study included all women admitted to a tertiary obstetric centre at 23-32 weeks gestation in the first 12 months following implementation of the guideline 'Magnesium sulphate for the prevention of cerebral palsy'. We determined the number triaged to receive magnesium sulphate, the proportion of infants who received magnesium sulphate prior to delivery and the total number of doses administered. RESULTS: A total of 330 women were admitted at a mean gestational age of 28.2 weeks, and 132/330 (40%) were prescribed magnesium sulphate, of whom 123/132 (93%) delivered. 142/191 (74%) infants born at <32 weeks' gestation received magnesium sulphate prior to delivery, with no significant differences seen by plurality or gestational age. Of the 145 doses administered, only 13 women received more than one dose, and only nine of 145 (7%) doses proved to be unnecessary. The median treatment duration was 3 h 58 min. The infusion was discontinued as result of side effects in 2% of women. CONCLUSION: Research recommendations regarding administration of magnesium sulphate with neuroprotective intent can be successfully translated into clinical practice. Appropriate triaging of women at high risk of imminent preterm birth is feasible, enabling a high level of magnesium sulphate coverage for infants that deliver prior to 32 weeks gestation, with minimal toxicity and a low rate of unnecessary maternal exposure.

2009 H1N1 influenza A and pregnancy outcomes in Victoria, Australia.

BACKGROUND: Pregnant women have been identified as a group at risk of increased morbidity and mortality associated with the pandemic H1N1 influenza A 2009 (H1N1/09) outbreak. METHODS: Six hospitals in the state of Victoria, Australia, contributed retrospective and prospective demographic and clinical data, reason for admission data, and maternal and fetal outcome data for women with laboratory-confirmed H1N1/09 admitted to the hospital from 20 May 2009 through 31 July 2009. RESULTS: Forty-three cases were reported during the study period, including 8 intensive care unit admissions, 1 maternal death, 2 fetal deaths, and 1 neonatal death. The most common reason for admission was uncomplicated influenza-like illness. Patients hospitalized for uncomplicated influenza-like illness had a length of stay significantly less than those with confirmed pneumonia. Thirty-six percent of women delivered during the hospitalization. Of the women delivering before 37 weeks' gestation, almost all had pneumonia. Almost half of our case series had no other comorbidity, a large proportion (77%) of women received antivirals, and 56% received antibiotics. The incidence of hospitalization was estimated at 0.46% (95% confidence interval, 0.31%-0.66%) of all 6094 pregnant women in the third trimester during the 3-month study period. The incidence of hospitalization in the second trimester was estimated at 0.21% (95% confidence interval, 0.11%-0.36%). CONCLUSIONS: This case series confirms a high number of complications in pregnant women due to pandemic H1N1/09. Many of these women had comorbidities, although almost 50% of the women in this case series who required hospitalization did not have an additional risk factor other than being pregnant.