Successful integration of newborn genetic testing into UK routine screening using prospective consent to determine eligibility for clinical trials.

Objective: INGR1D (INvestigating Genetic Risk for type 1 Diabetes) was a type 1 diabetes (T1D) genetic screening study established to identify participants for a primary prevention trial (POInT, Primary Oral Insulin Trial).

Methods: The majority of participants were recruited by research midwives in antenatal clinics from 18 weeks' gestation. Using the NHS Newborn Bloodspot Screening Programme (NBSP) infrastructure, participants enrolled in INGR1D had an extra sample taken from their day 5 bloodspot card sent for T1D genetic screening.

Two-Dimensional Echocardiography Estimates of Fetal Ventricular Mass throughout Gestation.

Background: Two-dimensional (2D) ultrasound quality has improved in recent years. Quantification of cardiac dimensions is important to screen and monitor certain fetal conditions. We assessed the feasibility and reproducibility of fetal ventricular measures using 2D echocardiography, reported normal ranges in our cohort, and compared estimates to other modalities.

Implementation of the INTERGROWTH-21st Project in the UK.

There are approximately 10,000 births per year in the county of Oxfordshire in the UK, which is one of the two European sites for the International Fetal and Newborn Growth Consortium for the 21(st) Century (INTERGROWTH-21(st) ) Project. The samples for both components of the project--the Fetal Growth Longitudinal Study (FGLS) and Newborn Cross-Sectional Study (NCSS)--were drawn from the John Radcliffe Hospital, a major university hospital with a large regional role that covers more than 75% of deliveries in the county. Special activities to encourage participation in this population included the formation of a research coalition to streamline recruitment in the Maternity Unit and the distribution of study information leaflets to women using the hospital's antenatal care service.

Managing data for the international, multicentre INTERGROWTH-21st Project.

The INTERGROWTH-21(st) Project data management was structured incorporating both a centralised and decentralised system for the eight study centres, which all used the same database and standardised data collection instruments, manuals and processes. Each centre was responsible for the entry and validation of their country-specific data, which were entered onto a centralised system maintained by the Data Coordinating Unit in Oxford. A comprehensive data management system was designed to handle the very large volumes of data.

Intra- and interobserver variability in fetal ultrasound measurements.

Objective: To assess intra- and interobserver variability of fetal biometry measurements throughout pregnancy.

Methods: A total of 175 scans (of 140 fetuses) were prospectively performed at 14-41 weeks of gestation ensuring an even distribution throughout gestation. From among three experienced sonographers, a pair of observers independently acquired a duplicate set of seven standard measurements for each fetus.

Evidence to support the single-dose over the two-dose protocol for routine antenatal anti-D Rhesus prophylaxis: a prospective observational study.

Objective: To assess the potential benefit of the single-dose compared with two-dose protocol for routine antenatal anti-D prophylaxis (RAADP).

Study Design: Prospective observational study during February to October 2009 in a district teaching hospital delivering 6000 women annually. Obstetric notes of eligible RhD negative women were reviewed following delivery to identify gestation and dose for RAADP injections, with laboratory confirmation when necessary.

Urinary peptide profiling identifies a panel of putative biomarkers for diagnosing and staging endometriosis.

Objective: To identify a potential diagnostic endometriosis marker using matrix-enhanced laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS)-based urinary proteomics.

Design: Prospective randomized pilot study.

Setting: University hospital, tertiary referral center for endometriosis.

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis.

A prospective cohort study of menstrual symptoms and morbidity over 15 years following laparoscopic Filshie clip sterilisation.

Objective: To observe the incidence of menstrual symptoms and relevant surgery after sterilisation.

Study Design: 1101 women sterilised with Filshie clips between 1983 and 2002 were assessed prospectively comparing menstrual symptomatology documented immediately before surgery and 5-14 years later by questionnaire.

Main Outcome Measures: Prevalence of menstrual dysfunction and subsequent surgery related to pre-operative menstrual symptoms and contraception.

Failure and regret after laparoscopic filshie clip sterilization under local anesthetic.

Objective: To estimate the failure, regret, and reversal rates 5 or more years after laparoscopic Filshie clip sterilization using local anesthesia.

Methods: A total of 1,101 women underwent Filshie clip sterilization between 1983 and 2002. They completed follow-up questionnaires that were analyzed for the following outcomes: failed sterilization, regret after the operation, and sterilization reversal.

Clinical validation of routine antenatal anti-D prophylaxis questions the modelling predictions adopted by NICE for Rhesus D sensitisation rates: results of a longitudinal study.

Objective: To compare the rates of Rh(D) sensitisations with a policy of restricted routine antenatal anti-D prophylaxis (first pregnancy only) with the rates predicted with universal routine antenatal anti-D prophylaxis (all pregnancies).

Study Design: A retrospective longitudinal observational study involving 15,500 confinements in Rhesus D negative (Rh(D)-ve) women between 1990 and 2003 in a single health district was conducted. All Rh(D) sensitised pregnancies were identified and evidence for routine antenatal anti-D prophylaxis administration during the first pregnancy was investigated.

Compliance with routine antenatal rhesus D prophylaxis and the impact on sensitisations: observations over 14 years.

Documented routine antenatal anti-D prophylaxis was given to 90% and 81-87% of eligible women at 28 and 34 weeks of gestation, respectively, during the early 1990s and early 2000s. With increasing experience and education, a significant improvement in the timing of the first (OR 0.26, 95% CI 0.

The kinetics of routine antenatal prophylactic intramuscular injections of polyclonal anti-D immunoglobulin.

Objective: To observe the pharmacokinetics of intramuscular anti-D immunoglobulin (IgG) given for routine antenatal prophylaxis.

Design: Prospective observational study.

Setting: Maternity unit and antenatal serology laboratory in a district teaching hospital.