Pulse Oximetry Screening for Critical Congenital Heart Defects in Newborn Babies.

Pulse oximetry screening (POS) was first described over 20 years ago. However, in recent years, major clinical trials have demonstrated consistent test accuracy for the detection of critical congenital heart defects (CCHD). International uptake of POS has progressed well over the last 10 years with most major high-income countries now recommending screening.

New born pulse oximetry screening: A global perspective.

The possibility of pulse oximetry screening (POS) for congenital heart defects was first described over 20 years ago. Since then, an accumulation of research evidence and clinical practice experience has established POS as an important test to detect critical congenital heart defects (CCHDs). POS meets the criteria for universal screening and professional bodies around the globe have recommended universal POS.

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

Mendelian causes of inherited cancer susceptibility are mostly rare and characterized by variable expression and incomplete penetrance. Phenotypic variability may result from a range of causes including locus heterogeneity, allelic heterogeneity, genetic and environmental modifier effects, or chance. Another potential cause is the presence of 2 or more inherited cancer predisposition alleles in the same individual.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. We ascertained eight families affected by HS and, by using a whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them. Loss-of-function mutations in both genes are known causes of a spectrum of autosomal-recessive peroxisome-biogenesis disorders (PBDs), including Zellweger syndrome.

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.

Background: Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases were described.

Results: The described patient and her husband were referred to genetic counseling clinic because of four reproductive failures.

A clinical and genetic analysis of multiple primary cancer referrals to genetics services.

Multiple primary malignant tumours (MPMT) are frequently taken as an indicator of potential inherited cancer susceptibility and occur at appreciable frequency both among unselected cancer patients and, particularly, among referrals to cancer genetics services. However, there is a paucity of information on the clinical genetic evaluation of cohorts of MPMT patients representing a variety of tumour types. We ascertained a referral-based series of MPMT cases and describe the patterns of tumours observed.

Successful emergency cardiac pacing and permanent pacemaker insertion in a preterm 29-week gestation hydropic baby with congenital complete heart block.

A preterm 29-week gestation baby was delivered because of gross foetal hydrops secondary to congenital complete heart block. Despite a poor prognosis, she survived stabilisation and received emergency epicardial pacing followed by permanent pacemaker insertion on day 13, weighing 1.2 kg.

Assessment of myocardial function in preterm infants with patent ductus arteriosus using tissue Doppler imaging.

Objective: To assess myocardial function in preterm infants with different degrees of ductal patency in the first week of life using tissue Doppler imaging.

Study Design: Infants <30 weeks of gestation underwent echocardiography on day 3. A total of 72 infants were recruited into the study and categorised into three groups (i) haemodyamically significant ductus arteriosus, (ii) patent ductus arteriosus and (iii) no patent ductus arteriosus.

Implementation and experience of an alternative QF-PCR and MLPA diagnostic strategy to detect chromosomal abnormalities in fetal and neonatal pathology samples.

Chromosomal abnormalities are a significant cause of pregnancy loss. Solid tissue fetal and neonatal pathology samples are routinely examined by karyotype analysis after cell culture. However, there is a high failure rate, and this approach is expensive and labor intensive.

Prenatal diagnosis, management and outcome of fetal dysrhythmia: a tertiary fetal medicine centre experience over an eight-year period.

Objective: To review the prenatal diagnosis, management and outcome of fetal dysrhythmia.

Subjects And Methods: Prenatal diagnosis, management and outcomes of fetuses with dysrhythmia were reviewed retrospectively (01/01/1997 to 31/12/2004).

Results: Over an 8-year period, 318 pregnant mothers were referred for assessment of suspected fetal dysrhythmias.

Computer-based teaching is as good as face to face lecture-based teaching of evidence based medicine: a randomized controlled trial.

Background: Assessing in undergraduate medical education the educational effectiveness of a short computer-based session, integrating a lecturer's video with a standardized structure, for evidence based medicine (EBM) teaching, compared to a lecture-based teaching session of similar structure and duration.

Method: A concealed, randomized controlled trial of computer based session versus lecture of equal duration (40 minutes) and identical content in EBM and systematic reviews. The study was based at the Medical School, University of Birmingham, UK involving one hundred and seventynine year one medical students.

Outcome following prenatal diagnosis of complete atrioventricular septal defect.

Objective: To identify in a case cohort study, overall outcome following prenatal diagnosis of complete AVSD (cAVSD) in a tertiary referral fetal cardiology center.

Method: We retrospectively reviewed all pregnancies from 1997 to 2004 in which the fetus was identified on ultrasound examination as having a cAVSD.

Results: A prenatal diagnosis of cAVSD was made using fetal echocardiography in 99 fetuses.

Antenatal perspective of hypoplastic left heart syndrome: 5 years on.

Background: Palliative staged reconstructive surgery has radically altered the outcome of babies with hypoplastic left heart syndrome (HLHS).

Aim: To compare the current outcome of antenatally diagnosed HLHS with a series 5 years previously now that paediatric cardiothoracic and postnatal paediatric intensive care techniques have been further refined.

Method: Comparison of all cases of HLHS diagnosed antenatally at Birmingham Women's Hospital between 1 January 2000 and 31 December 2004 with results of the previous series.

Computer-based teaching is as good as face to face lecture-based teaching of evidence based medicine: a randomised controlled trial.

Background: At postgraduate level evidence based medicine (EBM) is currently taught through tutor based lectures. Computer based sessions fit around doctors' workloads, and standardise the quality of educational provision. There have been no randomized controlled trials comparing computer based sessions with traditional lectures at postgraduate level within medicine.

Non-genomic steroid actions in human spermatozoa. "Persistent tickling from a laden environment".

As sperm traverse the female tract from vagina to oocyte, they experience a steroid milieu, which due to transcriptional inactivity, they can only respond to via non-genomic signaling. This environment mediates events including capacitation, changes in motility patterns, chemotaxis, and acrosome reaction. Current knowledge of the events, calcium signaling pathways, and potential identity of receptors involved is reviewed in light of recent data, with a context for further work in the field, and emphasizing the importance of steroids as a mixed stimulant.

Ovarian cancer: addressing a continuing health care challenge.

Ovarian cancer is difficult to diagnose and to manage. Early detection and successful treatment continue to challenge health care professionals, although over the past 20 years there have been modest improvements in overall outcomes. The charity WellBeing of Women is running a campaign called 'Breaking the Silence' to focus on the issue of ovarian cancer.

Fetal growth and sex related to placenta praevia.

A retrospective study investigating all cases given a diagnosis of placenta praevia at the Birmingham Women's Hospital Trust, January 1993 to June 1997, was undertaken to investigate any neonatal sex or weight differences compared with the general singleton pregnancies. Mothers with placenta praevia were at increased risk of preterm delivery, fetal malpresentation and having a caesarean section as the mode of delivery. No differences were found in the fetal sex ratio or incidence of small for gestational age (SGA) infants and indeed male infants overall were larger for dates in the placenta praevia group when compared with their gestational equivalents in the control population.

Urinary tract infection during pregnancy--dipstick urinalysis vs. culture and sensitivity.

Although it is important not to ignore clinical symptoms suggestive of a urinary tract infection (UTI), especially in antenatal patients, samples which have no abnormalities detected on bedside urinalysis may not need to be sent to the laboratory for culture and sensitivity (C&S) testing. If leucocytes, blood and/or protein are found in the samples, then they may need to be sent to the laboratory for further assessment, but no treatment needs to be instigated before obtaining the culture and sensitivity result, unless indicated clinically. The presence of nitrites in the sample is, however, much more suggestive of a bacterial infection and samples must be sent to the laboratory.

A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome.

Objectives: To add to the knowledge base concerning confined placental mosaicism for trisomy 2.

Methods: Cytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow-up amniocentesis. Ultrasound monitoring at regular intervals following the CVS result.

Maternal serum screening for trisomy 18: assessing different statistical models to optimize detection rates.

We have evaluated three alternative models for trisomy 18 screening using the maternal serum markers alpha-fetoprotein (AFP) and intact human chorionic gonadotrophin (hCG). Using data from 46 affected pregnancies and 48 150 unaffected pregnancies, we calculated distribution parameters for AFP and hCG multiples of the median (MoMs) and the factor comprising AFP MoMxhCG MoM. The trisomy 18 risk at mid-trimester was then calculated using either bivariate analysis of AFP and hCG MoMs or univariate analysis of AFP MoMxhCG MoM.

Evaluation of different weight correction methods for antenatal serum screening using data from two multi-centre programmes.

Weight correction of serum markers is widely used when screening for Down's syndrome and open neural tube defects (NTD) because marker concentrations decrease with increasing maternal weight. Log-linear regression is frequently used for determining weight correction factors, but recently reciprocal-linear regression has been suggested to have advantages. We compared both methods of weight correction using data from two screening programmes carried out by this laboratory, one using alpha-fetoprotein (AFP) and total human chorionic gonadotrophin (HCG) (n = 129,143) and the other, AFP and free beta-HCG (n = 39,982).

Patient dosimetry in hysterosalpingography: a comparative study.

Ovarian doses for 45 women undergoing hysterosalpingography (HSG) at our institution were calculated. Lithium borate thermoluminescent dosemeters were used to measure entrance surface doses in standard positions. The study compares the estimated dose received by 21 patients undergoing the procedure using an analogue fluoroscopic unit and standard film-screen radiography with that received by 24 patients who were imaged using a digital screening system with a C-arm.