Biomedical subjects

Charles H Rodeck

Publications and source records attributed to Charles H Rodeck.

At least 19 recordsLinked to original sources

PubMed2006

An update on antenatal screening for Down's syndrome and specific implications for assisted reproduction pregnancies.

Since the introduction of antenatal serum screening for Down's syndrome (DS) more than two decades ago, several screening approaches have been utilized in routine clinical practice. The current DS screening strategies involve mid-trimester serum biochemistry tests, first trimester tests combining sonographic markers and serum biochemistry and integration of first and second trimester markers. In this review, we evaluate the performance of DS screening strategies according to the Serum, Urine and Ultrasound Screening Study (SURUSS), the First and Second Trimester Evaluation of Risks (FASTER) Trial and the Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study. We also evaluate the performance of first trimester screening in studies and meta-analyses by other groups. Specific issues related to assisted reproduction technology (ART) pregnancies are also addressed in this review.

Biomarkers↗

PubMed2006

Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies.

OBJECTIVE: To define the sonographic features of spondyloepiphyseal dysplasia congenita (SEDC) and the double heterozygote for SEDC and achondroplasia. METHODS: A retrospective review of 6 pregnancies in one family where one parent has achondroplasia and the other SEDC. RESULTS: There were 4 double heterozygote pregnancies and 2 where the fetus had SEDC. Shortening of long bones was evident in both conditions from around 16 weeks gestation. Other findings such as an increased nuchal translucency were more variable. CONCLUSIONS: Molecular analysis of the FGFR3 and COL2AI gene once mutations are known in a family such as reported here can inform prenatal diagnosis and help to distinguish between the double heterozygote and a fetus which has inherited a single mutation. The data presented here on the growth of the long bones and other sonographic features associated with SEDC may aid prenatal diagnosis in cases where the mutation is not known.

Achondroplasia↗

PubMed2006

Minimally-compressive, three- and four-dimensional ultrasound imaging of the clitoris: a feasibility study.

There has been no objective means for imaging the three-dimensional (3D) morphology of the clitoris-a poorly understood, complex structure. A Live 3D ultrasound system with a matrix-array transducer was used for data acquisition from eight women. The transducer was positioned in front of and about 3 cm away from the clitoris, with a gel pad or water pad being placed in between. The pads allowed the delicate structures to be imaged without noticeable deformation. Quality images could be obtained with use of a water pad in all patients. The imaging volume was big enough to cover the clitoral glans and body simultaneously, allowing real-time 3D visualisation. To cover the entire clitoris, the probe was moved from one side of the crus to the other, or a four subvolume scan was performed. 3D clitoral anatomy was depicted from 71% of 51 water pad data-sets. The study demonstrates the feasibility of obtaining 3D clitoral ultrasound images. This will improve scientific and clinical understanding of the clitoral role in sexual activity. The minimally-compressive scanning offers an opportunity to visualise dynamic 3D (4D) morphology of other deformable body parts.

Adult↗

PubMed2006

Inositol phosphoglycan putative insulin mediator in human amniotic fluid.

BACKGROUND: Many hormones such as insulin, insulin-like growth factors, and the glucocorticoids are involved in regulating fetal growth. Inositol phosphoglycans (IPGs), a family of putative second messengers of insulin, are reported to exert several of insulin's metabolic effects. METHODS: A prospective cross-sectional study was carried out to investigate IPG P-type (P-IPG) in human amniotic fluid and in adult urine under physiological conditions. An amniotic fluid sample was taken from 78 women undergoing early amniocentesis and a mid-stream urine specimen was collected from 109 healthy pregnant and 66 non-pregnant women. All samples were assessed using a polyclonal antibody-based ELISA. RESULTS: The P-IPG content was a thousand times higher in the amniotic fluid than in the urine (p < 0.0001). Urinary specimens showed a four-fold higher P-IPG content during pregnancy than in healthy non-pregnant women (p < 0.001). CONCLUSIONS: Under physiological conditions, human amniotic fluid was found to be enriched in P-IPG compared with maternal urine, suggesting a possible fetal origin. Therefore, IPGs may play a role in insulin sensitivity and fetal growth and, perhaps, be involved in some of its abnormalities such as macrosomia and intrauterine growth restriction.

Adult↗

PubMed2006

Current applications of fetal cardiac imaging technology.

PURPOSE OF REVIEW: Over the last few years, great progress has been made in imaging technology, which is changing the way prenatal visualization of the fetal heart is used for diagnosis and therapy. RECENT FINDINGS: This paper reviews recent clinical research using these new techniques, namely dynamic three-dimensional (4D) echocardiography, myocardial Doppler imaging, B-flow ultrasonography, endoscopic ultrasound, and magnetic resonance imaging. Of them, 4D echocardiography is the most significant development and is discussed in greater detail. This includes real-time volumetric data acquisition using matrix-array transducer technology, motion artefact elimination using spatio-temporal image correlation, and various display options. The advantages and limitations of each are also addressed. SUMMARY: These techniques can provide (1) sequential assessment of the entire heart using a full 4D dataset, (2) 4D delineation of trabeculation patterns on the ventricular walls, en-face dynamic shapes of ventricular septal defects and spatially complex malformations, (3) derivation of cardiac indices to myocardial contractility and strain rate by Doppler tissue imaging, and/or (4) the use of transoesophageal ultrasound to guide in-utero cardiac intervention. All of these techniques expand our ability to evaluate the morphology and function of the in-utero heart.

Echocardiography, Four-Dimensional↗

PubMed2006

Hypothesis: the placental 'steal' phenomenon - a possible hazard of amnioreduction.

The twin-twin transfusion syndrome (TTTS) complicates approximately 15% of monochorionic twin pregnancies. Severe TTTS is associated with poor neonatal outcome and a relatively high rate of neurological abnormalities. Some studies have suggested this outcome to be more severe in cases treated by amnioreduction. In this paper we present a hypothesis that radical amnioreduction performed after 24 weeks of gestation might cause a shift of blood from the fetus into the placenta. This could explain some of the severe neurological outcomes, such as hypoxic ischemic brain damage, seen in these cases.

Amniotic Fluid↗

PubMed2005

Real-time three-dimensional ultrasound visualization of erection and artificial coitus.

To investigate the feasibility of imaging penile erection and coitus in real time and in three dimensions, a 'Live' three-dimensional (3-D) ultrasound system was used to acquire the volume of interest at 25 Hz from five healthy men. Water baths and gel-made artificial vaginas were devised to facilitate the 3-D scans without the probe being in direct contact with the penis. For the first volunteer scanned with the water bath alone, the penis failed to erect within 30 min. For the other four volunteers, the 'vagina' successfully initiated and maintained the erection and allowed artificial intercourse. Results have shown that the 'Live' 3-D ultrasound and minimally compressive imaging techniques together can offer an objective means for visualizing erection and coitus in spatial totality and temporal reality. They can be further developed to reveal more reliable details about the dynamic morphology, improving scientific understanding of sexual activities and clinical management of related problems.

Coitus↗

PubMed2005

Insulin resistance in human preeclamptic placenta is mediated by serine phosphorylation of insulin receptor substrate-1 and -2.

CONTEXT: Preeclampsia is a severe complication of human pregnancy often associated with maternal risk factors. Insulin resistance represents a major risk for developing preeclampsia during pregnancy. OBJECTIVE: A putative second messenger of insulin, inositol phosphoglycan P type (P-IPG), was previously shown to be highly increased during active preeclampsia. Its association with insulin resistance was investigated. DESIGN AND SETTING: A cross-sectional study was carried out in a referral center. PATIENTS: Nine preeclamptic (PE) and 18 healthy women were recruited and matched for maternal age, body mass index, parity, and ethnicity in a 1:2 ratio. Placental specimens were collected immediately after delivery. INTERVENTION: Placental tissue was incubated with insulin and P-IPG production assessed. Insulin signaling proteins were subsequently studied by immunoblotting. RESULTS: P-IPG extracted from human term placentas upon incubation with insulin was found to be far lower in those with preeclampsia than controls (P < 0.001). Immunoblotting studies revealed serine phosphorylation of insulin receptor substrate-1 and -2 in PE placentas (P < 0.001) with downstream impairment of insulin signaling. The activation of the p85 regulatory subunit of phosphatidylinositol 3- kinase was markedly decreased in PE samples (P < 0.001). CONCLUSIONS: These findings highlight the importance of P-IPG in active preeclampsia and demonstrate a substantially different response to the insulin stimulus of human PE placentas. Acquired alterations in activation of proteins involved in insulin signaling may play a role in the complex pathogenesis of preeclampsia, probably as a consequence of the immunological dysfunction that occurs in this syndrome. These results seem to confirm an insulin-resistant state in PE placenta and shed a different light on its role in the pathogenesis of this disease with potential therapeutic implications.

Adult↗

PubMed2005

The influence of cigarette smoking on antenatal growth, birth size, and the insulin-like growth factor axis.

BACKGROUND: Maternal smoking during pregnancy is associated with a reduction in birth size. Very few studies have collated changes in fetal biometry, neonatal anthropometry, biochemical factors involved in fetal growth, and measures of uterine and umbilical blood flow. METHODS: We related smoking status in 1650 low-risk, singleton Caucasian pregnancies delivering at term to measures of fetal growth, uterine and umbilical artery blood flow, placental appearance, birth size, and cord concentrations of IGF-I and -II and IGF binding protein (IGFBP)-3. RESULTS: Mothers who smoked in pregnancy were younger (P < 0.001) and shorter (P = 0.03) and from lower socioeconomic groups (P < 0.001). Mean umbilical artery blood flow at 20 wk gestation was not associated with smoking status but was significantly higher in smokers at 30 wk (P = 0.006). Uterine artery blood flow was unaffected. Smoking was associated with an increase in the percentage of abnormal placentas in a dose-dependent manner and with a 3.1-fold increased risk (odds ratio 3.1, 95% confidence interval 1.3-7.6) of abnormal umbilical artery blood flow (P = 0.009). Smoking was associated with a reduction in fetal femur length (P = 0.005) and abdominal circumference as well as birth weight, length, and head circumference but not skinfold thickness. Cord plasma concentrations of IGF-I and IGFBP-3 were lower in the babies of mothers who had smoked (P = 0.02 and P = 0.01, respectively). CONCLUSION: We concluded that maternal smoking is associated with an altered placental appearance on ultrasonography, increased umbilical artery blood flow resistance, and a reduction in longitudinal and intraabdominal organ growth. Circulating concentrations of IGF-I and IGFBP-3 along with measures of birth size but not markers of body fat are reduced, suggesting smoking results in a reduction in organ size and function.

Adult↗

PubMed2005

Invasive diagnostic procedures in twin pregnancies.

The rising rate of multiple pregnancies and its association with advanced maternal age has expanded the need for prenatal diagnosis in twins and higher order gestations. The complexity of the invasive diagnostic procedures and the risk of loss of an unaffected twin raise significant clinical, technical and ethical issues. In this review we discuss the specific issues of early scanning, counseling and determination of chorionicity prior to invasive procedures in twins. We present the available data describing the risk associated with these procedures in twins and compare data of fetal loss rate from different studies. We also discuss the issues of fetal blood sampling and late karyotyping in twin pregnancies.

Amniocentesis↗

PubMed2005

Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy.

OBJECTIVE: This study reviews our clinical experience of non-invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X-linked genetic disease or for ambiguous development of the external genitalia. METHODS: A prospective cohort study of 30 pregnancies was referred to a tertiary unit for prenatal diagnosis. Fetal gender was determined using two non-invasive techniques: analysis of free fetal DNA (ffDNA) in maternal plasma and ultrasound visualisation. The results were compared to fetal gender determined by invasive testing or at birth. RESULTS: Fetal gender was accurately determined by analysis of ffDNA at a mean of 10 + 1 (7 + 6 to 14 + 1) weeks' gestation in all cases. Ultrasound assessment was accurate in 20 of the 23 cases where this was attempted at 12 + 0 (10 + 4 to 14 + 1) weeks' gestation, but could not be determined in the remaining 3 cases. Thirteen of 28 (46%) women chose not to have invasive testing on the basis of these findings. CONCLUSIONS: Both the techniques appear to offer an accurate means of assessing fetal gender, giving parents the option of avoiding invasive testing in the 50% of cases where the fetus would not be affected. The molecular technique is performed at an earlier gestation, but female fetal status is predicted by a negative test result. Ultrasound cannot be applied until 11 weeks' gestation but diagnostic signs are sought in both sexes. Combining these approaches offers a highly sensitive method of non-invasive determination of gender in high-risk pregnancies. Health professionals, clinical geneticists and genetics associates, in particular, who refer women at high risk should be aware of these non-invasive options for prenatal sex determination.

Chromosomes, Human, X↗

PubMed2005

Targeting the respiratory muscles of fetal sheep for prenatal gene therapy for Duchenne muscular dystrophy.

OBJECTIVE: Duchenne muscular dystrophy (DMD) is a lethal degenerative muscular disease. Fetal gene therapy may correct the primary genetic defect. Our aim was to achieve expression of a reporter gene in the respiratory muscles of early gestation fetal sheep. STUDY DESIGN: An adenovirus vector containing the beta-galactosidase reporter gene (AdRSVbetagal) was injected into the thoracic musculature (n = 3) and pleural cavity (n = 6) of fetal sheep (61-67 days' gestation) under ultrasound guidance. Tissues were harvested after 48 hours and site and intensity of beta-galactosidase expression were assessed. RESULTS: Limited transgene expression observed after a single injection was improved by multiple injections, but remained localized. Ultrasound-guided creation of a hydrothorax led to an increase in the intensity of beta-galactosidase expression (ELISA). X-gal staining and immunohistochemistry showed that vector spread was confined to the innermost intercostal musculature. CONCLUSION: Ultrasound-guided injection can deliver gene therapy vectors to the fetal pleural cavity and achieve transduction of the respiratory muscles.

Adenoviridae↗

PubMed2005

Recreational drugs and fetal gastroschisis: maternal hair analysis in the peri-conceptional period and during pregnancy.

OBJECTIVE: To objectively measure individual recreational drug groups in maternal hair samples timed for the period of conception and different stages of pregnancy in expectant mothers with a diagnosis of fetal gastroschisis. DESIGN: Prospective observational study. SETTING: Tertiary level Fetal Medicine Unit in a University teaching hospital. POPULATION: Pregnant women with a diagnosis of fetal gastroschisis (n= 22) and a control group of women (n= 25) with a normal fetus. METHODS: Hair samples were cut from the vertex of the head of expectant mothers with a diagnosis of fetal gastroschisis and a matched control group in whom the fetus was normal. The samples were analysed by enzyme-linked immunosorbent assay (ELISA) for individual drug groups. Confirmatory tests using gas chromatography with mass spectrometry (GCMS) were used. MAIN OUTCOME MEASURES: Presence of recreational drug compounds in hair samples. RESULTS: In the group with fetal gastroschisis there were four proven positive cases for recreational drug abuse (18%) and there were none in the control group. CONCLUSIONS: The incidence of recreational drug use in the peri-conceptional period and the first trimester by expectant mothers with a diagnosis of fetal gastroschisis is 18%. This association may be linked to the recent increase in the incidence of gastroschisis among younger mothers.

Adolescent↗

PubMed2004

New fetal cardiac imaging techniques.

Rapid advances in graphics computing and micro-engineering have offered new techniques for prenatal cardiac imaging. Some of them can be non-invasively applied to both clinical and laboratory settings, including dynamic three-dimensional echocardiography, myocardial Doppler imaging, harmonic ultrasound imaging, and B-flow sonography. With clinical constraints, a few others have been mainly used in laboratories, such as endoscopic ultrasound, magnetic resonance imaging and biomicroscopy. Appropriate use and co-use of these new tools will not only provide unique information for better clinical assessment of fetal cardiac disease but also offer new ways to improved understanding of cardiovascular development and pathogenesis.

Echocardiography↗

PubMed2004

Maternal and fetal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGF BP-3, and their relationship to fetal acidosis at delivery.

OBJECTIVE: To investigate the relationship between levels of insulin-like growth factors 1 and 2 (IGF-1, IGF-2), and insulin-like growth factor binding protein 3 (IGFBP-3) in antenatal maternal serum and in fetal cord blood at delivery. METHODS: Prospective cohort study of 1650 low-risk Caucasian women in a University teaching hospital in London. Statistical analysis was performed using commercial software (SPSS for Windows, version 6.1, SPSS, Chicago, Illinois, USA), with p<0.05 as significant. Maternal IGF 1, IGF 2 and IGF BP-3 were assessed on maternal blood at booking and in fetal blood by cord blood analysis at delivery. Cord pH was also recorded. RESULTS: There was no significant correlation between maternal IGF-1, IGF-2, or IGFBP-3 levels and fetal acidosis. However, a significant correlation does exist between cord IGF-1 levels and fetal acidosis. CONCLUSION: Fetal cord IGF-1 has a significant correlation with fetal acidosis at delivery.

Acidosis↗

PubMed2003

A new method for quantifying encephalization in the growing individual.

Here we describe a new method for quantifying encephalization in the growing individual and provide a worked example of the methods. The new method is based on the use of conditional SD scores derived from brain and body growth references. These encephalization SD scores control for age, sex and body size effects on brain size, and therefore, control for the confounds associated with allometry as well as growth differences between the brain and body and between the sexes. The methods also control for distribution skewness. Encephalization SD scores derived from pre- and post-natal data may be directly compared and changes in SD score over time assessed. These methods may be applied to a broad range of data where relative size during growth is to be quantified. Derived SD scores may also be applied to correlation and regression analyses where statistical relationships with other variables are of interest.

Aging↗

PubMed2003

Magnetic resonance proton spectroscopy and diffusion weighted imaging of chick embryo brain in ovo.

Metabolic compensatory mechanisms may partly account for the decreased vulnerability to hypoxia observed in the developing brain. We used proton magnetic resonance spectroscopy and diffusion-weighted imaging to measure the cerebral concentrations of lactate and other metabolites, as well as the apparent diffusion coefficient (ADC) of tissue water, before, during and after hypoxia in anaesthetised chick embryos in ovo. Reducing the inspired oxygen concentration to 8% for 40 min caused a significant rise in both mean (+/-S.D.) lactate:creatine and alanine:creatine ratios from 0.58 (0.41) to 1.56 (0.56) and 0.14 (0.14) to 0.29 (0.17), respectively. Under similar hypoxic conditions, ADC did not change from a mean baseline value of 0.95 (0.09), but did fall to 0.40 (0.12) x 10(9) mm(2) s(-1) with further stepwise reductions in oxygenation. Moderate hypoxia increases lactate concentration in the developing chick brain without compromising cellular energy metabolism.

Adaptation, Physiological↗

PubMed2003

Perinatal outcome in fetuses with megacystis in the first half of pregnancy.

OBJECTIVE: To present the outcome of a consecutive series of 19 fetuses referred to our center for megacystis in the first half of the pregnancy. STUDY DESIGN: Retrospective analysis. METHODS: 19 cases of early fetal megacystis were reviewed. Inclusion criteria were the visualization of an enlarged bladder with a maximum longitudinal diameter >10 mm and a gestational age of no more than 19 weeks. RESULTS: The median gestational age at diagnosis was 16 weeks (range 12-19 weeks). The median maximum longitudinal diameter of the fetal bladder at the time of diagnosis was 21 mm (range 11-35 mm). The fetal megacystis was associated with another extra renal anomaly in six cases (30%). There was no fetus with abnormal karyotype. Termination of pregnancy was performed in 11 cases because of the severity of the renal disease. One spontaneous intrauterine death occurred. A vesicoamniotic shunt was inserted in three cases, two of which died in utero. The surviving fetus that was shunted died in the neonatal period from acute renal failure. In the remaining four fetuses, resolution of the megacystis occurred spontaneously (n = 2) or following serial single-needle aspiration (n = 2). One of these had renal insufficiency requiring kidney transplantation. CONCLUSION: The outcome of fetuses with early obstructive uropathy is poor, with or without in utero therapy. Pathophysiology, clinical presentation and outcome of fetuses with early uropathy may differ from those previously described in the latter part of pregnancy.

Abortion, Eugenic↗