Center for Fetal Medicine

São José do Rio Preto, Brazil

Center for Fetal Medicine

São José do Rio Preto, Brazil
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Krasikov N.V.,Odintsovo Central District Hospital | Filyaeva Y.A.,Center for Fetal Medicine | Totchiev G.F.,People Friendship University of Russia
Akusherstvo i Ginekologiya (Russian Federation) | Year: 2016

Objective. To carry out a systems analysis of the data available in the current literature on possible abnormalities in the composition and properties of vaginal microbiocenosis. To consider the clinical aspects of different vaginal dysbioses in reproductive-aged women. Material and methods. The review includes the data of foreign and Russian papers published in the past 20 years. Results. The paper analyzes the relationship between the microecological system of the intestine and that of the genital tract in women. It also shows that it is possible to correct the vaginal and intestinal microflora and to prevent its abnormalities with probiotics. Conclusion. The efficacy of a combination of the probiotic microorganisms Lactobacillus acidophilus (LA-5) and Bifidobacterium animalis subsp. lactis (BB-12) was evaluated; their positive effect on the body’s microecosystems was established. © 2017, Bionika Media Ltd. All rights reserved.


de Oliveira G.H.,Institute Medicina Reprodutiva e Fetal SS IMR | Dias C.M.,Institute Medicina Reprodutiva e Fetal SS IMR | Vaz-Oliani D.C.M.,Center for Fetal Medicine | Oliani A.H.,Institute Medicina Reprodutiva e Fetal SS IMR
Sao Paulo Medical Journal | Year: 2016

CONTEXT: Umbilical cord thrombosis is related to greater fetal and perinatal morbidity and mortality. It is usually associated with umbilical cord abnormalities that lead to mechanical compression with consequent vascular ectasia. Its correct diagnosis and clinical management remains a challenge that has not yet been resolved. CASE REPORT: This study reports a case of umbilical artery thrombosis that occurred in the second half of a pregnancy. The umbilical cord was long, thin and overly twisted and the fetus presented severe intrauterine growth restriction. The clinical and histopathological findings from this case are described. CONCLUSIONS: This case report emphasizes the difficulty in diagnosing and clinically managing abnormalities of intrauterine life with a high chance of perinatal complications. © 2016, Associacao Paulista de Medicina. All rights reserved.


Merialdi M.,World Health Organization | Widmer M.,World Health Organization | Gulmezoglu A.M.,World Health Organization | Abdel-Aleem H.,Assiut University | And 16 more authors.
BMC Pregnancy and Childbirth | Year: 2014

Background: In 2006 WHO presented the infant and child growth charts suggested for universal application. However, major determinants for perinatal outcomes and postnatal growth are laid down during antenatal development. Accordingly, monitoring fetal growth in utero by ultrasonography is important both for clinical and scientific reasons. The currently used fetal growth references are derived mainly from North American and European population and may be inappropriate for international use, given possible variances in the growth rates of fetuses from different ethnic population groups. WHO has, therefore, made it a high priority to establish charts of optimal fetal growth that can be recommended worldwide.Methods: This is a multi-national study for the development of fetal growth standards for international application by assessing fetal growth in populations of different ethnic and geographic backgrounds. The study will select pregnant women of high-middle socioeconomic status with no obvious environmental constraints on growth (adequate nutritional status, non-smoking), and normal pregnancy history with no complications likely to affect fetal growth. The study will be conducted in centres from ten developing and industrialized countries: Argentina, Brazil, Democratic Republic of Congo, Denmark, Egypt, France, Germany, India, Norway, and Thailand. At each centre, 140 pregnant women will be recruited between 8 + 0 and 12 + 6 weeks of gestation. Subsequently, visits for fetal biometry will be scheduled at 14, 18, 24, 28, 32, 36, and 40 weeks (+/- 1 week) to be performed by trained ultrasonographers.The main outcome of the proposed study will be the development of fetal growth standards (either global or population specific) for international applications.Discussion: The data from this study will be incorporated into obstetric practice and national health policies at country level in coordination with the activities presently conducted by WHO to implement the use of the Child Growth Standards. © 2014 Merialdi et al.; licensee BioMed Central Ltd.


Kraus J.,Charles University | Trkova M.,Center for Fetal Medicine | Stejskal D.,Center for Fetal Medicine
Neuropsychiatric Disease and Treatment | Year: 2016

Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1. © 2016 Musova et al.


PubMed | Center for Fetal Medicine and Institute Medicina Reprodutiva e Fetal SS IMR
Type: Case Reports | Journal: Sao Paulo medical journal = Revista paulista de medicina | Year: 2016

Umbilical cord thrombosis is related to greater fetal and perinatal morbidity and mortality. It is usually associated with umbilical cord abnormalities that lead to mechanical compression with consequent vascular ectasia. Its correct diagnosis and clinical management remains a challenge that has not yet been resolved.This study reports a case of umbilical artery thrombosis that occurred in the second half of a pregnancy. The umbilical cord was long, thin and overly twisted and the fetus presented severe intrauterine growth restriction. The clinical and histopathological findings from this case are described.This case report emphasizes the difficulty in diagnosing and clinically managing abnormalities of intrauterine life with a high chance of perinatal complications.


Trkova M.,Center for Fetal Medicine | Krutilkova V.,Center for Fetal Medicine | Smetanova D.,Center for Fetal Medicine | Becvarova V.,Center for Fetal Medicine | And 7 more authors.
European Journal of Medical Genetics | Year: 2015

Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal α-dystroglycan glycosylation have been implicated in the aetiology of WWS, most recently the ISPD gene. Typical WWS brain anomalies, such as cobblestone lissencephaly, hydrocephalus and cerebellar malformations, can be prenatally detected through routine ultrasound examinations. Here, we report two karyotypically normal foetuses with multiple brain anomalies that corresponded to WWS symptoms. Using a SNP-array examination on the amniotic fluid DNA, a homozygous microdeletion was identified at 7p21.2p21.1 within the ISPD gene. Published data and our findings led us to the conclusion that a homozygous segmental intragenic deletion of the ISPD gene causes the most severe phenotype of Walker-Warburg syndrome. Our results also clearly supports the use of chromosomal microarray analysis as a first-line diagnostic test in patients with a foetus with one or more major structural abnormalities identified on ultrasonographic examination. © 2015 Elsevier Masson SAS.


Trkova M.,Center for Fetal Medicine | Becvarova V.,Center for Fetal Medicine | Hynek M.,Center for Fetal Medicine | Hnykova L.,Center for Fetal Medicine | And 9 more authors.
American Journal of Medical Genetics, Part A | Year: 2012

Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia. © 2012 Wiley Periodicals, Inc.


Pedersen B.W.,Copenhagen University | Ringholm L.,Copenhagen University | Damm P.,Copenhagen University | Tabor A.,Copenhagen University | And 5 more authors.
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2016

Aim: To evaluate whether initiation of anti-hypertensive treatment with methyldopa affects fetal hemodynamics in women with pregestational diabetes.Methods: Prospective study of unselected singleton pregnant women with diabetes (seven type 1 and two type 2 diabetes), normal blood pressure and kidney function at pregnancy booking. Methyldopa treatment was initiated at blood pressure >135/85 mmHg and/or urinary albumin excretion (UAE) >300 mg/g creatinine. Pulsatility indices (PI) of the uterine, umbilical, middle cerebral arteries before and 1 week after initiation of methyldopa treatment (250 mg three times daily) was performed and the cerebro-placental ratio (CPR) was calculated.Results: Methyldopa treatment was initiated at median 249 (range 192-260) gestational days, mainly due to gestational hypertension (n = 7). Blood pressure declined from 142 (112-156)/92 (76-103) mmHg before to 129 (108-144)/82 (75-90) mmHg after initiation of methyldopa treatment (p = 0.11 and 0.04 for systolic and diastolic blood pressure, respectively). There were no significant changes in the umbilical artery PI (0.82 (0.72-1.40) versus 0.87 (0.64-0.95), p = 0.62) or CPR (1.94 (0.96-2.33) versus 1.78 (1.44-2.76), (p = 0.73). Gestational age was 265 (240-270) d. Apgar scores were normal.Conclusions: Stable Doppler flow velocity waveforms were documented after initiation of methyldopa treatment for pregnancy-induced hypertensive disorders in this cohort of pregnant women with pregestational diabetes. © 2015 Informa UK Ltd.


PubMed | Center for Fetal Medicine
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2012

Jacobsen syndrome (JBS) is a rare chromosomal disorder caused by terminal deletion of the long arm of chromosome 11. We report on four prenatally diagnosed patients with JBS with variable prenatal and postnatal phenotypes and 11q deletions of varying sizes. Precise characterization of the deleted region in three patients was performed by SNP arrays. The severity of both the prenatal and postnatal phenotypes did not correlate with the size of the haploinsufficient region. Despite the large difference in the deletion size (nearly 6 Mb), both of the live-born patients had similar phenotypes corresponding to JBS. However, one of the most prominent features of JBS, thrombocytopenia, was only present in the live-born boy. The girl, who had a significantly longer deletion spanning all four genes suspected of being causative of JBS-related thrombocytopenia (FLI1, ETS1, NFRKB, and JAM3), did not manifest a platelet phenotype. Therefore, our findings do not support the traditional view of deletion size correlation in JBS or the causative role of FLI1, ETS1, NFRKB, and JAM3 deletion per se for the development of disease-related thrombocytopenia.


PubMed | Center for Fetal Medicine
Type: Case Reports | Journal: European journal of medical genetics | Year: 2015

Walker-Warburg syndrome (WWS) is a rare form of autosomal recessive, congenital muscular dystrophy that is associated with brain and eye anomalies. Several genes encoding proteins involved in abnormal -dystroglycan glycosylation have been implicated in the aetiology of WWS, most recently the ISPD gene. Typical WWS brain anomalies, such as cobblestone lissencephaly, hydrocephalus and cerebellar malformations, can be prenatally detected through routine ultrasound examinations. Here, we report two karyotypically normal foetuses with multiple brain anomalies that corresponded to WWS symptoms. Using a SNP-array examination on the amniotic fluid DNA, a homozygous microdeletion was identified at 7p21.2p21.1 within the ISPD gene. Published data and our findings led us to the conclusion that a homozygous segmental intragenic deletion of the ISPD gene causes the most severe phenotype of Walker-Warburg syndrome. Our results also clearly supports the use of chromosomal microarray analysis as a first-line diagnostic test in patients with a foetus with one or more major structural abnormalities identified on ultrasonographic examination.

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