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A O Odibo - One of the best experts on this subject based on the ideXlab platform.
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Screening for fetal Growth Disorders by clinical exam in the era of obesity
Journal of Perinatology, 2013Co-Authors: K R Goetzinger, M G Tuuli, A O Odibo, K A Roehl, G A Macones, A G CahillAbstract:Objective: To evaluate the performance of clinical estimation of fetal weight as a screening test for fetal Growth Disorders and then to estimate the effect of maternal body mass index (BMI) on its screening efficiency. Study Design: This was a retrospective cohort study of patients referred for third trimester ultrasound for the indication of ‘size unequal to dates’. Patients with medical co-morbidities that may alter their a priori risk for fetal Growth Disorders were excluded. The incidence of fetal Growth Disorders as well as amniotic fluid disturbances was determined for each group and then compared across maternal BMI categories of dates and 1543 for the indication of size90th percentile and 13.5 and 96.7% for predicting BW
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Screening for fetal Growth Disorders by clinical exam in the era of obesity.
Journal of Perinatology, 2012Co-Authors: K R Goetzinger, M G Tuuli, A O Odibo, K A Roehl, G A Macones, A G CahillAbstract:To evaluate the performance of clinical estimation of fetal weight as a screening test for fetal Growth Disorders and then to estimate the effect of maternal body mass index (BMI) on its screening efficiency. This was a retrospective cohort study of patients referred for third trimester ultrasound for the indication of ‘size unequal to dates’. Patients with medical co-morbidities that may alter their a priori risk for fetal Growth Disorders were excluded. The incidence of fetal Growth Disorders as well as amniotic fluid disturbances was determined for each group and then compared across maternal BMI categories of dates and 1543 for the indication of size 90th percentile and 13.5 and 96.7% for predicting BW 90th percentile ranged from 6 to 13 across BMI categories. Overall, clinical estimation of fetal weight yields a low detection rate of fetal Growth abnormalities; however, its screening efficiency is not adversely impacted by maternal BMI.
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The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal Growth Disorders
American Journal of Obstetrics and Gynecology, 2009Co-Authors: K R Goetzinger, Ashima Singla, Sabrina Gerkowicz, Jeffrey M Dicke, Diana L Gray, A O OdiboAbstract:Objective To evaluate the association between first-trimester serum analytes, pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin, and fetal Growth Disorders, and to determine whether a prediction model for these Growth Disorders can be developed. Study Design Retrospective cohort study of patients seen for first-trimester aneuploidy screening. Pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin multiples of the median were evaluated for association with small- and large-for-gestational-age infants in combination with maternal characteristics. Univariate and backward stepwise logistic regression analyses were performed and the area under the receiver-operator curves used to determine the best prediction models. Results Neither pregnancy-associated plasma protein A nor free beta-human chorionic gonadotropin levels were associated with an increased risk of large-for-gestational-age infants. For small-for-gestational-age infants, the final model included black race, free beta-human chorionic gonadotropin multiples of the median >90th percentile, and pregnancy-associated plasma protein A multiples of the median Conclusion Low pregnancy-associated plasma protein A and high free beta-human chorionic gonadotropin levels are associated with a small-for-gestational-age Growth pattern; however, additional factors to improve the prediction model are needed.
Anthony O Odibo - One of the best experts on this subject based on the ideXlab platform.
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The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal Growth Disorders.
American Journal of Obstetrics and Gynecology, 2009Co-Authors: Katherine R Goetzinger, Ashima Singla, Sabrina Gerkowicz, Jeffrey M Dicke, Diana L Gray, Anthony O OdiboAbstract:To evaluate the association between first-trimester serum analytes, pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin, and fetal Growth Disorders, and to determine whether a prediction model for these Growth Disorders can be developed. Retrospective cohort study of patients seen for first-trimester aneuploidy screening. Pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin multiples of the median were evaluated for association with small- and large-for-gestational-age infants in combination with maternal characteristics. Univariate and backward stepwise logistic regression analyses were performed and the area under the receiver-operator curves used to determine the best prediction models. Neither pregnancy-associated plasma protein A nor free beta-human chorionic gonadotropin levels were associated with an increased risk of large-for-gestational-age infants. For small-for-gestational-age infants, the final model included black race, free beta-human chorionic gonadotropin multiples of the median >90th percentile, and pregnancy-associated plasma protein A multiples of the median <5th percentile as significant predictors (area under the curve = 0.58). Low pregnancy-associated plasma protein A and high free beta-human chorionic gonadotropin levels are associated with a small-for-gestational-age Growth pattern; however, additional factors to improve the prediction model are needed.
Salah Azzi - One of the best experts on this subject based on the ideXlab platform.
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Human Fetal Growth Disorders and Imprinting Anomalies
Research and Perspectives in Endocrine Interactions, 2014Co-Authors: Christine Gicquel, Irène Netchine, Sylvie Rossignol, Salah Azzi, Julie Demars, Frédéric Brioude, Y. Le BoucAbstract:Epigenetic mechanisms play a key role in regulating gene expression. One of the best-studied epigenetic modifications is DNA methylation at cytosine residues of CpG dinucleotides in gene promoters, transposons and imprinting control regions (ICR). Genomic imprinting refers to the epigenetic marking of genes that results in monoallelic expression, depending on their parental origin. Several hormone genes involved in embryonic and fetal Growth are imprinted. There are two critical time periods in epigenetic reprogramming: gametogenesis and early preimplantation development. Major reprogramming takes place in primordial germ cells in which parental imprints are erased and totipotency is restored. Imprint marks are then re-established during spermatogenesis or oogenesis, depending on sex. Upon fertilization, there is genome-wide demethylation followed by a wave of de novo methylation, both of which are resisted by imprinted loci. Disruption of imprinting causes Disorders involving Growth defects, such as the Beckwith-Wiedemann overGrowth syndrome (BWS) and Silver-Russell syndrome (SRS) with the opposite phenotype, involving intrauterine and postnatal Growth retardation. These Growth Disorders are caused, in most cases, by abnormal DNA methylation at the 11p15 imprinted region that contains many imprinted genes, including Insulin-like Growth Factor 2 (IGF2). Loss of methylation (LOM) on the maternal allele at the centromeric ICR2/KCNQ1OT1 region or gain of methylation (GOM) on the maternal allele at the telomeric ICR1/IGF2/H19 region has been shown in BWS. This latter defect is associated with a higher risk of pediatric tumors, such as nephroblastoma. By contrast, LOM on the paternal allele at the telomeric ICR1 is observed in SRS. There is an abnormally high prevalence of conceptions by assisted reproductive technology (ART) among patients with BWS and SRS, suggesting that ART may favor imprinting alterations at the imprinted centromeric 11p15 locus (LOM at the maternally methylated ICR2 or LOM at the paternally methylated ICR1, respectively). The underlying cause of these imprinting defects (following ART or occurring spontaneously) remains unclear. However, recent data indicate that, in patients with BWS or SRS, including those born following ART for BWS, the methylation defect involves imprinted loci other than 11p15. Moreover, some patients exhibit LOM at both maternally and paternally methylated ICR, which suggests that unfaithful maintenance of DNA methylation marks following fertilization involves the dysregulation of a trans-acting regulatory factor.
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Epigenetic anomalies in childhood Growth Disorders.
Recent Advances in Growth Research: Nutritional Molecular and Endocrine Perspectives, 2013Co-Authors: Irène Netchine, Sylvie Rossignol, Salah Azzi, Yves Le BoucAbstract:Fetal Growth is a complex process involving environmental, epigenetic and genetic factors. Fetal Growth restriction is associated with morbidity among small for gestational age (SGA) neonates as well as in children and adults who were former SGA. Imprinted genes (whose expression is restricted to a single parental allele) have a critical role in controlling mammalian fetal Growth. The human chromosome 11p15 encompasses two imprinted domains regulated by their own differentially methylated imprinted control region (ICR1 at the H19/IGF2 domain, and ICR2 at the KCNQ1/CDKN1C domain). Loss of imprinting at these two domains is implicated in two clinically opposite Growth Disorders. Indeed, our group has identified a loss of DNA methylation (LOM) at ICR1 in over 50% of patients with Russell-Silver syndrome (RSS) characterized by intrauterine and postnatal Growth retardation with spared cranial Growth, dysmorphic features, frequent body asymmetry and severe feeding difficulties. By contrast, gain of methylation at ICR1 is found in 10% of patients with Beckwith-Wiedemann syndrome (BWS), an overGrowth syndrome with an enhanced childhood tumor risk. We have now identified over 130 RSS patients with 11p15 LOM. This 11p15 epimutation is a frequent and specific cause of RSS as it has not been identified in non syndromic SGA patients. These new findings in the pathophysiology of RSS allow long-term follow-up studies to be performed based on molecular diagnosis. This will help to define appropriate clinical guidelines regarding Growth, rapid bone age advance during puberty and feeding difficulties. Remarkably, we have also recently found that ∼10% of RSS patients and ∼25% of BWS patients showed multilocus LOM at imprinted regions other than ICR1 or ICR2 11p15, respectively. Several clinical studies demonstrated that assisted reproductive technology significantly increased the risk of human imprinting diseases including BWS and RSS, suggesting that the environment may favor imprinting Disorders.
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Imprinted anomalies in fetal and childhood Growth Disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
Developmental Biology of GH Secretion Growth and Treatment, 2012Co-Authors: Irène Netchine, Sylvie Rossignol, Salah Azzi, Frédéric Brioude, Yves Le BoucAbstract:Fetal Growth is a complex process. Its restriction is associated with morbidity and long term metabolic consequences. Imprinted genes have a critical role in mammalian fetal Growth. The human chromosome 11p15 encompasses two imprinted domains regulated by their own differentially methylated region (DMR), also called Imprinted Control Region (ICR1 at the H19/IGF-2 domain, paternally methylated), and ICR2 at the KCNQ1/CDKN1C domain (maternally methylated). Loss of imprinting at these two domains is implicated in two Growth Disorders clinically opposite. A loss of DNA methylation (LOM) at ICR1 is identified in over 50% of patients with Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal Growth retardation, spared cranial Growth, frequent body asymmetry and severe feeding difficulties. Inversely, a gain of methylation at ICR1 is found in 10% of patients with Beckwith-Wiedemann syndrome (BWS), an overGrowth syndrome with an enhanced childhood tumor risk. We have identified over 150 RSS patients with 11p15 LOM allowing long-term follow-up studies and proposal of clinical guidelines. We also found that ∼10% of RSS patients and ∼25% of BWS patients have multilocus LOM at imprinted regions other than ICR1 or ICR2 11p15, respectively. Recent studies have identified cis-acting regulatory elements and trans-acting factors involved in the regulation of 11p15 imprinting, establishing new potential mechanisms of RSS and BWS.
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analysis of the igf2 h19 imprinting control region uncovers new genetic defects including mutations of oct binding sequences in patients with 11p15 fetal Growth Disorders
Human Molecular Genetics, 2010Co-Authors: Julie Demars, Irène Netchine, Sylvie Rossignol, Salah Azzi, Mansur Ennuri Shmela, Jun Okabe, S Cabrol, Cedric Le Caignec, Albert David, Yves Le BoucAbstract:The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. This methylation-sensitive chromatin insulator works by binding the zinc-finger protein CTCF in a parent-specific manner. DNA methylation defects involving the ICR1 H19/IGF2 domain result in two Growth Disorders with opposite phenotypes: an overGrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a Growth retardation disorder, the Silver-Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). Although a few deletions removing part of ICR1 have been described in some familial BWS cases, little information is available regarding the mechanism of ICR1 DNA methylation defects. We investigated the CTCF gene and the ICR1 domain in 21 BWS patients with ICR1 gain of methylation and 16 SRS patients with ICR1 loss of methylation. We identified four constitutional ICR1 genetic defects in BWS patients, including a familial case. Three of those defects are newly identified imprinting defects consisting of small deletions and a single mutation, which do not involve one of the CTCF binding sites. Moreover, two of those defects affect OCT-binding sequences which are suggested to maintain the unmethylated state of the maternal allele. A single-nucleotide variation was identified in a SRS patient. Our data extends the spectrum of constitutive genetic ICR1 abnormalities and suggests that extensive and accurate analysis of ICR1 is required for appropriate genetic counseling in BWS patients with ICR1 gain of methylation.
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multilocus methylation analysis in a large cohort of 11p15 related foetal Growth Disorders russell silver and beckwith wiedemann syndromes reveals simultaneous loss of methylation at paternal and maternal imprinted loci
Human Molecular Genetics, 2009Co-Authors: Salah Azzi, Sylvie Rossignol, Virginie Steunou, Theo Sas, Nathalie Thibaud, Fabienne Danton, Maryline Le Jule, Claudine Heinrichs, Sylvie Cabrol, Christine GicquelAbstract:Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in many human Disorders and cancers. The imprinted 11p15 region is crucial for the control of foetal Growth and LOI at this locus is implicated in two clinically opposite Disorders: Beckwith Wiedemann syndrome (BWS) with foetal overGrowth associated with an enhanced tumour risk and Russell-Silver syndrome (RSS) with intrauterine and postnatal Growth restriction. So far, only a few studies have assessed multilocus LOM in human imprinting diseases. To investigate multilocus LOI syndrome, we studied the methylation status of five maternally and two paternally methylated loci in a large series (n = 167) of patients with 11p15-related foetal Growth Disorders. We found that 9.5% of RSS and 24% of BWS patients showed multilocus LOM at regions other than ICR1 and ICR2 11p15, respectively. Moreover, over two third of multilocus LOM RSS patients also had LOM at a second paternally methylated locus, DLK1/GTL2 IG-DMR. No additional clinical features due to LOM of other loci were found suggesting an (epi)dominant effect of the 11p15 LOM on the clinical phenotype for this series of patients. Surprisingly, four patients displayed LOM at both ICR1 and ICR2 11p15. Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient.
K R Goetzinger - One of the best experts on this subject based on the ideXlab platform.
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Screening for fetal Growth Disorders by clinical exam in the era of obesity
Journal of Perinatology, 2013Co-Authors: K R Goetzinger, M G Tuuli, A O Odibo, K A Roehl, G A Macones, A G CahillAbstract:Objective: To evaluate the performance of clinical estimation of fetal weight as a screening test for fetal Growth Disorders and then to estimate the effect of maternal body mass index (BMI) on its screening efficiency. Study Design: This was a retrospective cohort study of patients referred for third trimester ultrasound for the indication of ‘size unequal to dates’. Patients with medical co-morbidities that may alter their a priori risk for fetal Growth Disorders were excluded. The incidence of fetal Growth Disorders as well as amniotic fluid disturbances was determined for each group and then compared across maternal BMI categories of dates and 1543 for the indication of size90th percentile and 13.5 and 96.7% for predicting BW
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Screening for fetal Growth Disorders by clinical exam in the era of obesity.
Journal of Perinatology, 2012Co-Authors: K R Goetzinger, M G Tuuli, A O Odibo, K A Roehl, G A Macones, A G CahillAbstract:To evaluate the performance of clinical estimation of fetal weight as a screening test for fetal Growth Disorders and then to estimate the effect of maternal body mass index (BMI) on its screening efficiency. This was a retrospective cohort study of patients referred for third trimester ultrasound for the indication of ‘size unequal to dates’. Patients with medical co-morbidities that may alter their a priori risk for fetal Growth Disorders were excluded. The incidence of fetal Growth Disorders as well as amniotic fluid disturbances was determined for each group and then compared across maternal BMI categories of dates and 1543 for the indication of size 90th percentile and 13.5 and 96.7% for predicting BW 90th percentile ranged from 6 to 13 across BMI categories. Overall, clinical estimation of fetal weight yields a low detection rate of fetal Growth abnormalities; however, its screening efficiency is not adversely impacted by maternal BMI.
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The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal Growth Disorders
American Journal of Obstetrics and Gynecology, 2009Co-Authors: K R Goetzinger, Ashima Singla, Sabrina Gerkowicz, Jeffrey M Dicke, Diana L Gray, A O OdiboAbstract:Objective To evaluate the association between first-trimester serum analytes, pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin, and fetal Growth Disorders, and to determine whether a prediction model for these Growth Disorders can be developed. Study Design Retrospective cohort study of patients seen for first-trimester aneuploidy screening. Pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin multiples of the median were evaluated for association with small- and large-for-gestational-age infants in combination with maternal characteristics. Univariate and backward stepwise logistic regression analyses were performed and the area under the receiver-operator curves used to determine the best prediction models. Results Neither pregnancy-associated plasma protein A nor free beta-human chorionic gonadotropin levels were associated with an increased risk of large-for-gestational-age infants. For small-for-gestational-age infants, the final model included black race, free beta-human chorionic gonadotropin multiples of the median >90th percentile, and pregnancy-associated plasma protein A multiples of the median Conclusion Low pregnancy-associated plasma protein A and high free beta-human chorionic gonadotropin levels are associated with a small-for-gestational-age Growth pattern; however, additional factors to improve the prediction model are needed.
Ashima Singla - One of the best experts on this subject based on the ideXlab platform.
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The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal Growth Disorders
American Journal of Obstetrics and Gynecology, 2009Co-Authors: K R Goetzinger, Ashima Singla, Sabrina Gerkowicz, Jeffrey M Dicke, Diana L Gray, A O OdiboAbstract:Objective To evaluate the association between first-trimester serum analytes, pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin, and fetal Growth Disorders, and to determine whether a prediction model for these Growth Disorders can be developed. Study Design Retrospective cohort study of patients seen for first-trimester aneuploidy screening. Pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin multiples of the median were evaluated for association with small- and large-for-gestational-age infants in combination with maternal characteristics. Univariate and backward stepwise logistic regression analyses were performed and the area under the receiver-operator curves used to determine the best prediction models. Results Neither pregnancy-associated plasma protein A nor free beta-human chorionic gonadotropin levels were associated with an increased risk of large-for-gestational-age infants. For small-for-gestational-age infants, the final model included black race, free beta-human chorionic gonadotropin multiples of the median >90th percentile, and pregnancy-associated plasma protein A multiples of the median Conclusion Low pregnancy-associated plasma protein A and high free beta-human chorionic gonadotropin levels are associated with a small-for-gestational-age Growth pattern; however, additional factors to improve the prediction model are needed.
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The efficiency of first-trimester serum analytes and maternal characteristics in predicting fetal Growth Disorders.
American Journal of Obstetrics and Gynecology, 2009Co-Authors: Katherine R Goetzinger, Ashima Singla, Sabrina Gerkowicz, Jeffrey M Dicke, Diana L Gray, Anthony O OdiboAbstract:To evaluate the association between first-trimester serum analytes, pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin, and fetal Growth Disorders, and to determine whether a prediction model for these Growth Disorders can be developed. Retrospective cohort study of patients seen for first-trimester aneuploidy screening. Pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin multiples of the median were evaluated for association with small- and large-for-gestational-age infants in combination with maternal characteristics. Univariate and backward stepwise logistic regression analyses were performed and the area under the receiver-operator curves used to determine the best prediction models. Neither pregnancy-associated plasma protein A nor free beta-human chorionic gonadotropin levels were associated with an increased risk of large-for-gestational-age infants. For small-for-gestational-age infants, the final model included black race, free beta-human chorionic gonadotropin multiples of the median >90th percentile, and pregnancy-associated plasma protein A multiples of the median <5th percentile as significant predictors (area under the curve = 0.58). Low pregnancy-associated plasma protein A and high free beta-human chorionic gonadotropin levels are associated with a small-for-gestational-age Growth pattern; however, additional factors to improve the prediction model are needed.
