Screening for congenital heart disease in a Singapore neonatal unit

INTRODUCTION@#Congenital heart disease (CHD) is a leading cause of infant mortality. The aim of this study was to evaluate the efficacy of a neonatal screening programme for CHD before the introduction of pulse oximetry.@*METHODS@#This was a retrospective review of live births in the period 2003-2012. Cases of CHD were detected through prenatal ultrasonography and/or postnatal examination, and confirmed using two-dimensional echocardiography. Data was rigorously checked against multiple sources. The antenatal detection rate, sensitivity, specificity, predictive values and likelihood ratios of the screening programme were analysed for all cases of CHD and critical CHD.@*RESULTS@#The incidence of CHD was 9.7 per 1,000 live births. The commonest CHD was ventricular septal defect (54.8%). The antenatal detection rate was three times higher in the critical CHD group (64.0%) compared to the group as a whole (21.1%). The sensitivity and specificity of screening was 64.5% and 99.7% for all CHD, and 92.9% and 99.1% for the critical CHD group, respectively. The positive likelihood ratio was 215 and 103, while the negative likelihood ratio was 0.36 and 0.07 for all CHD and critical CHD, respectively.@*CONCLUSION@#The CHD screening programme had excellent specificity but limited sensitivity. The high positive likelihood ratios indicate that where sufficient risk factors for CHD are present, a positive result effectively confirms the presence of CHD. The low negative likelihood ratio for critical CHD indicates that, where prior suspicion for critical CHD is low, a negative result is reassuring.

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome

<p><b>INTRODUCTION</b>Invasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences.</p><p><b>METHODS</b>A total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes - accuracy, time of results, risk of miscarriage and amount of information provided - were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants.</p><p><b>RESULTS</b>The women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes. When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD.</p><p><b>CONCLUSION</b>Our data highlights the need for patient-specific counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.</p>

Polypoid endometriosis of post vaginal fornix: utility of MRI imaging of pelvis with diffusion weighted imaging for diagnosis

Polypoid endometriosis is an uncommon variant of endometriosis which can mimic malignancy due to its presentation as masses. We present a case of polypoid endometriosis which simulated cervical malignancy both on clinical examination and on computed tomography (CT) scanning and discuss how magnetic resonance (MR) imaging, in particular Diffusion Weighted Imaging (DWI), can help to distinguish this condition from true malignancy and avoid invasive surgery.

The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort

<p><b>INTRODUCTION</b>First trimester screening (FTS) is a validated screening tool that has been shown to achieve detection rates of 84%-90% for trisomies 21, 18 and 13. However, its effectiveness for different maternal ages has not been assessed. The present study aimed to assess the performance of FTS in an Asian population, and to compare its effectiveness in older (≥ 35 years) and younger (< 35 years) women. The potential use of noninvasive prenatal test (NIPT) as a contingent screening test is also examined.</p><p><b>METHODS</b>Data on cases of FTS performed on singleton pregnancies over a six-year period was collated from two Singapore maternal centres, National University Hospital and Singapore General Hospital. Cases that had a 1:250 risk of trisomy were considered to be screen-positive. Pregnancy outcomes were obtained from birth records or karyotype test results.</p><p><b>RESULTS</b>From 10,289 FTS cases, we obtained a sensitivity of 87.8%, a specificity of 97.6%, a false positive rate of 2.4% and a false negative rate of 0.06% for the detection of aneuploidy. The overall detection rate for trisomy 21 was 86.5%-85.7% for older women and 87.5% for younger women. The mean number of invasive tests required per case of trisomy 21 was 9.3 in younger women, 8.6 in older women and 13.5 in women with intermediate risk (1:250-1,000).</p><p><b>CONCLUSION</b>While the performance of FTS was similar in younger and older women, more invasive procedures were required to diagnose trisomy 21 in women with intermediate risk. It may be advantageous to offer contingent NIPT to this group of women to reduce the risk of iatrogenic fetal loss.</p>

Why we do caesars: a comparison of the trends in caesarean section delivery over a decade

<p><b>INTRODUCTION</b>In the United Kingdom, caesarean section (CS) rates have increased from 9% of deliveries in 1980 to 21% in 2001. A similar increase in CS rates has been seen in many developed countries. This is beyond the World Health Organisation's (WHO's) recommended level of 15%. This is a worrying trend as the risks of placenta previa, placenta accreta, hysterectomies, bladder and bowel injuries are increased with subsequent CS. We aim to ascertain the commonest indications for CS in a tertiary hospital and make recommendations to decrease future CS rates.</p><p><b>MATERIALS AND METHODS</b>This retrospective analysis compares the 5 most common indications for CS in 1999 and 2009. CS rates in the 2 study periods are tabulated and analysed as well.</p><p><b>RESULTS</b>In the first study period between January and December 1999, there were 2048 deliveries of which 365 were via CS. In the second study period of a decade later from January to December 2009, there were 1572 deliveries of which 531 were via CS. This gives an increase in CS rate from 17.8% in 1999 to 34% in 2009. The main indications for CS in 1999 were: cephalopelvic disproportion (18.6%), breech (14.2%), non-reassuring fetal status (11.8%), 1 previous CS (11.2%) and pregnancy-induced hypertension/pre-eclampsia/eclampsia (6.6%). The main indications for CS in 2009 were: 1 previous CS (18.1%), non-reassuring fetal status (12.2%), cephalopelvic disproportion (10.5%), 2 or more previous CS (7.9%) and breech (7.7%).</p><p><b>CONCLUSION</b>There is a significant increase in CS rates over the last decade with an increased percentage of CS done because of a previous CS. This is associated with increased risk of complications as well. Recommendations are suggested with the view to decrease future CS rates.</p>

Caesarean section scar pregnancy: a case series at a single tertiary centre

We present a case series of four patients with Caesarean scar pregnancies (CSPs) managed at our gynaecological unit between October 2008 and May 2009. Three patients were detected while asymptomatic, and were treated with elective intragestational sac methotrexate injections. The last patient had presented following complications from a termination of pregnancy for a CSP that was misdiagnosed as intrauterine. Following treatment, this patient and another developed arteriovenous malformation, which responded to bilateral uterine artery embolisations and gonadotropin releasing hormone (GnRH)-agonist treatment.

Placental calcification in pseudoxanthoma elasticum

<p><b>INTRODUCTION</b>Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder of the elastic tissue and the objective of this case report is to correlate ultrasonographic and histological appearances of placental calcification in PXE.</p><p><b>CLINICAL PICTURE</b>We report a case of a 37-year-old white woman with PXE, whose antenatal imaging showed a markedly echogenic placenta due to extensive calcification confirmed on postpartum placental histology.</p><p><b>OUTCOME</b>There were no maternal or fetal complications in the antenatal period. A healthy baby of appropriate maturity and weight was delivered via Caesarean section and remained well at 6 months.</p><p><b>CONCLUSION</b>The majority of cases of PXE is caused by mutations in the ABCC6 gene. Serious complications in pregnancy can include gastrointestinal haemorrhage, congestive heart failure and cardiac arrhythmia but has not been shown to be associated with markedly increased fetal loss or adverse reproductive outcomes as reported in previous literature. Apart from the cosmetic deterioration of the abdominal skin, there were few serious complications and most have normal pregnancies. Obstetric prognosis is dependent on the vascular damage caused by the illness. There is no basis for advising women with PXE to avoid becoming pregnant, and most pregnancies in PXE are uncomplicated.</p>