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Han Yun Y Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Nantong University, NO. 6 North Hai-er-xiang Road, Nantong, 226001, China, - - 2014
The aim of this study was to identify the association of adiponectin gene single nucleotide polymorphism (SNP) 45TG with gestational diabetes mellitus (GDM) diagnosed on the new International Diabetes in Pregnancy Consensus Group (IADPSG) criteria, plasma adiponectin levels and adverse pregnancy outcomes in Han women of Nantong area in China. ...
Kent Julie - - 2014
Since its introduction in the 1960s Anti-D immunoglobulin (Anti-D Ig) has been highly successful in reducing the incidence of haemolytic disease of the fetus and newborn (HDFN) and achieving improvements to maternal and fetal health. It has protected women from other invasive interventions during pregnancy and prevented deaths and damage ...
Dutra Caroline Gross CG Department of Genetics, Postgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS) , Porto Alegre , - - 2014
Recurrent pregnancy loss (RPL) is defined as the occurrence of two or more consecutive pregnancy losses. It is an important reproductive condition with a complex etiology. In approximately 50% of RPL cases an explanation for the cause is not found and they are therefore classified as idiopathic RPL. One of ...
Hobbs Charlotte A CA Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, Arkansas Children's Hospital Research Institute, Little Rock, - - 2014
We investigated the association between conotruncal heart defects (CTDs) and maternal and fetal single nucleotide polymorphisms (SNPs) in 60 genes in the folate, homocysteine, and transsulfuration pathways. We also investigated whether periconceptional maternal folic acid supplementation modified associations between CTDs and SNPs METHODS: Participants were enrolled in the National Birth ...
Lunetta C C Neuromuscular Omnicentre, Fondazione Serena Onlus, Niguarda Ca' Granda Hospital, Milan, - - 2014
The occurrence of amyotrophic lateral sclerosis (ALS) during pregnancy is uncommon and the effect of one on the other is not well described. The clinical and genetic features of five cases of ALS are reported with an onset during pregnancy or within 1 month from delivery. Charts from 239 women ...
Fraga L R LR Post-Graduation Program in Genetics and Molecular Biology, Departament of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul (UFRGS), Caixa Postal 15031 - Agencia Campus UFRGS, Porto Alegre, RS, 91501-970, Brazil, - - 2014
The p53 protein is known for performing essential functions in the maintenance of genomic stability in somatic cells and prevention of tumor formation. Studies of the p53 signaling pathway have suggested associations between some polymorphisms and infertility, post-in vitro fertilization implantation failure and recurrent abortions. The TP53 Pro72Arg polymorphism has ...
Zhu Yu-Juan YJ Department of Obstetrics and Gynecology, Research Institute of Surgery, Daping Hospital, Third Military Medical University, Chongqing 400042, PR - - 2014
Abstract Objective: To determine the diagnostic accuracy, validity, current limitations of, and possible solutions to, fetal RhD genotyping from maternal blood based on existing studies written in English. Methods: A literature search was conducted that described fetal RhD determination from maternal blood. The number of samples tested, fetal RhD genotype, ...
Lewis S J SJ School of Social and Community Medicine, University of Bristol, Bristol, - - 2014
Background/Objectives:Iron is fundamental to many basic biological functions, and animal studies suggest that iron deficiency early in life can have a lasting impact on the developing brain.Subjects/Methods:We used a population-based cohort of mothers and their children to assess the effect of iron status among pregnant women on the cognitive ability ...
Kooper Angelique Ja AJ Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands. - - 2014
The aim of this study was to evaluate the best diagnostic approach for the genetic analysis of samples from first, second and third trimester intrauterine fetal deaths (IUFDs). We examined a total of 417 IUFD samples from fetuses with and without congenital anomalies. On 414 samples, karyotyping (N = 46) ...
Schmidt L C LC Departamento de Imunohematologia, Fundação Hemominas, Belo Horizonte, MG, Brasil - - 2014
We evaluated the efficacy of noninvasive fetal Rhesus D (RHD) genotyping from maternal plasma in a highly admixed population. Fifty-five blood samples from RhD-negative pregnant women from Brazil were processed for extraction of cell-free plasma DNA. Real-time PCR was performed to amplify segments of exons 5 and 7 from the ...
Yang W C WC College of Animal Science and Technology, Northwest A&F University, Shaanxi, - - 2014
Follicle-stimulating hormone receptor (FSHR), which mediates the functioning of FSH, plays a central role in reproduction. We investigated bovine FSHR gene polymorphisms and analyzed their relationships with pregnancy rates after embryo transfer and with hormone concentrations on the day of embryo transfer. One reported SNP of FSHR, G-278A, located in ...
Wlodarczyk Bogdan J BJ Center for Environmental and Genetic Medicine, Institute of Biosciences and Technology, Texas A&M University System Health Science Center, 2121 West Holcombe Blvd., Houston, TX 77030, USA. Electronic address: - - 2013
In utero exposure to arsenic is known to adversely affect reproductive outcomes. Evidence of arsenic teratogenicity vary widely and depend on individual genotypic differences in sensitivity to As. In this study, we investigated the potential interaction between 5,10-methylenetetrahydrofolate reductase (Mthfr) genotype and arsenic embryotoxicity using the Mthfr knockout mouse model. ...
Aarnink Alice A Laboratoire d'Immunogénétique Moléculaire, EA 3034, Faculté de Médecine Purpan, Université Paul Sabatier, Toulouse 3, CHU de Toulouse, Toulouse, - - 2013
The impact of feto-maternal histocompatibility on reproduction has inspired long-lasting debates. However, after the review of numerous articles, the impact of HLA allele sharing within couples on fecundity remains questionable. We decided to explore the impact of major histocompatibility complex (MHC) feto-maternal compatibility on reproduction in a cynomolgus macaque facility ...
Manzanares Sebastian S Virgen de las Nieves University Hospital, Granada, Armilla, - - 2013
Introduction: The aim of this study was to examine if noninvasive fetal RhD genotyping from maternal blood cell-free fetal DNA performed in the first trimester of pregnancy is accurate enough to propose its routine application to replace usual immunoprophylaxis. Material and Methods: We carried out a prospective study analyzing fetal ...
Yang Lan - - 2013
For the samples in which the fetus was heterozygous for the PLAC4 (placenta-specific 4) single-nucleotide polymorphism (SNP), our research is to develop a rapid, accurate and cost-effective assay for the non-invasive prenatal detection of fetal trisomy 21 (T21). Maternal plasma samples were prepared from 60 euploid pregnancies(range: 15-23 weeks)and 17 ...
Yang Wu-Cai - - 2013
The insulin-like growth factor 1 receptor (IGF1R) is a membrane glycoprotein mediating most biological actions of IGF1 and IGF2, and has an important effect on ovulation, pre-implantation embryo development and pregnancy rate. The objectives of this study were to detect IGF1R gene polymorphisms of cattle and analyze the relationship with ...
Kakourou Georgia - - 2013
Abstract Human leukocyte antigen (HLA) typing of in vitro fertilization (IVF) embryos, aims to establish a pregnancy that is HLA compatible with an affected sibling who requires hematopoietic stem cell transplantation (HSCT). It can be performed with or without preimplantation genetic diagnosis (PGD) for exclusion of a single-gene disorder (SGD) ...
Ota S - - 2013
A common haplotype M2 consisting of minor SNP alleles located in the ANXA5 gene promoter region has been described as a risk factor for various obstetric complications such as recurrent pregnancy loss, pre-eclampsia and pregnancy-related thrombophilic disorder. However, the question of whether it is the maternal or fetal genotype that ...
Hyland Catherine A - - 2013
Fetal RHD screening programs that aim to reduce unnecessary antenatal anti-D prophylaxis are being introduced into clinical practice. Strategies to manage women serologically typed as RhD negative who have maternal RHD variants are needed. This study describes maternal RHD allelic variants detected in non-selected and alloimmunised RhD negative obstetric populations ...
Chen Chih-Ping - - 2013
We present prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by aCGH using uncultured amniocytes in pregnancy with interrupted aortic arch and atrial septal defect in a fetus. The fetus postnatally manifested facial dysmorphisms and long slender fingers. We discuss the genotype-phenotype correlation and the consequence of ...
Lesseur Corina - - 2013
Leptin a regulator of body weight is involved in reproductive and developmental functions. Leptin promoter DNA methylation (LEP) regulates gene expression in a tissue-specific manner and has been linked to adverse pregnancy outcomes. In non-pathologic human pregnancies, we assessed LEP methylation, genotyped the single nucleotide polymorphism (SNP) rs2167270 in placental ...
Hayashi Yuko - - 2013
To investigate whether polymorphisms at the promoter or 5'-untranslated region of annexin A5 gene (ANXA5) influence miscarriage. Case-control study and nested case-control study. Hospitals. A total of 264 patients with two to nine recurrent pregnancy losses (RPLs) and 195 fertile control subjects. None. The frequency of six single-nucleotide polymorphisms (SNPs) ...
Tan Y-Q - - 2013
Is preimplantation genetic diagnosis (PGD) for translocation carriers more effective when done with a single-nucleotide polymorphism (SNP) array using trophectoderm (TE) biopsy and frozen embryo transfer (FET) compared with traditional PGD based on fluorescence in situ hybridization (FISH-PGD) using blastomere biopsy and fresh embryo transfer? The procedure using the SNP ...
Lenhart Patricia M - - 2013
Objective Reduced maternal plasma levels of the peptide vasodilator adrenomedullin have been associated with adverse pregnancy outcomes. We measured the extent to which genetic polymorphisms in the adrenomedullin signaling pathway are associated with birth weight, glycemic regulation, and preeclampsia risk.Study Design We genotyped 1,353 women in the Pregnancy, Infection, and ...
Lehmann Amalia S - - 2013
Nausea and vomiting of pregnancy (NVP) is a common condition. The objective of this study was to evaluate the association between response to antiemetics in the treatment of NVP and genetic polymorphisms in the serotonin receptor subunit genes HTR3A and HTR3B. Pregnant women >=18 years of age with NVP starting ...
O'Callaghan Michael E - - 2013
AIM: This study aims to examine single nucleotide polymorphism (SNP) associations with cerebral palsy in a multi-variable analysis adjusting for potential clinical confounders and to assess SNP-SNP and SNP-maternal infection interactions as contributors to cerebral palsy. METHODS: A case control study including 587 children with cerebral palsy and 1154 control ...
Le Trang N - - 2013
Aims: Human placental lactogen (hPL) acts via the prolactin receptor (PRLR) on maternal β-cells to mediate increases in β-cell mass and function during normal pregnancy. This interaction between hPL and PRLR is essential to maintain normal glucose homeostasis and to address the increased metabolic demands of pregnancy. Given the importance ...
Savage Philip - - 2013
PURPOSE: Partial molar pregnancies are rare conceptions characterized by having 69 rather than 46 chromosomes, the additional chromosome complement usually occurring as a result of fertilization of the ovum by two sperm. Although assisted conception with intracytoplasmic sperm injection (ICSI) should prevent the development of a partial molar pregnancy, occasional ...
Zhou Ang - - 2013
We aimed to determine whether ACE A11860G genotype is associated with small for gestational age babies (SGA) and to determine whether the association is affected by environmental factors and fetal sex. Overall 3234 healthy nulliparous women with singleton pregnancies, their partners and babies, were prospectively recruited in Adelaide, Australia and ...
Puri Manju - - 2013
Abstract Aim: The present study attempts to understand the role of methylenetetrahydrofolate reductase C677T (MTHFR C677T) in recurrent pregnancy losses in North Indian women because of hyperhomocysteinemia in light of serum folate and vitamin B12. Methods: One hundred and seven women with three or more consecutive unexplained recurrent pregnancy losses ...
Zhao Linlu - - 2013
A genome-wide association study was undertaken to identify maternal single nucleotide polymorphisms (SNPs) and copy-number variants (CNVs) associated with pre-eclampsia. Case-control analysis was performed on 1070 Afro-Caribbean (n = 21 cases and 1049 controls) and 723 Hispanic (n = 62 cases and 661 controls) mothers and 1257 mothers of European ...
Chin J R - - 2013
Objective:Leptin signaling is important in the establishment of pregnancy. We sought to determine if single nucleotide polymorphisms (SNPs) in the leptin and leptin receptor genes are associated with idiopathic recurrent pregnancy loss (RPL).Study Design:We conducted a case-control study with cases defined as women with idiopathic RPL and controls as parous ...
Chen Chih-Ping - - 2013
We present prenatal diagnosis of a de novo distal deletion involving 5p(5p15.1→pter) using uncultured amniocytes in a pregnancy with cerebellar hypoplasia, hypospadias and facial dysmorphisms in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of CTNND2, SEMA5A, TERT, SRD5A1 and TPPP. We speculate that haploinsufficiency of ...
Palomares Arturo R - - 2013
OBJECTIVE: To explore whether serotonin-related gene polymorphisms influence clinical outcomes of IVF treatment in recipients using donated oocytes. DESIGN: Nested case-control study. SETTING: University-affiliated infertility clinic. PATIENT(S): Two hundred forty-five women undergoing IVF treatment with donated oocytes. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype and haplotype analysis of the serotonin transporter-linked ...
Lledo Belen - - 2013
OBJECTIVE: The aim of this study was to investigate whether N680S FSHR polymorphism has a predictive value for the ovarian response to stimulation with gonadotropins and cycle outcome in our egg donor program. METHODS: The oocyte donor candidates were selected according to the Instituto Bernabeu egg donation program requirements and ...
Nair R R - - 2013
C+3953T IL-1 B single-nucleotide polymorphism (SNP) genotyping was carried out in 140 unrelated early pregnancy loss (EPL) patients and in 198 fertile healthy control women and in chorionic villous samples by PCR-RFLP. In Indian population, this is the first report on association of IL-1 B SNP C+3953T polymorphism and EPL.
Magdoud K - - 2013
Transforming growth factor β1 (TGF-beta-1) plays a significant role in pregnancy outcome. We investigated the association of TGFB1 exon 1 (rs1800471, rs1800470) and promoter region (rs1800469, rs1800468) polymorphisms with recurrent pregnancy loss (RPL) in 675 Tunisian women: 304 women with a history of three consecutive pregnancy losses of unknown etiology ...
Kim Ji Hyang - - 2013
OBJECTIVE: To investigate the association between one-carbon metabolism and recurrent pregnancy loss (RPL). One-carbon metabolism is important for maintaining pregnancy, and the enzymes codified by these genes are relevant to this metabolic pathway. DESIGN: Case-control study. SETTING: An urban university-based hospital in South Korea. PATIENT(S): A cohort of 353 RPL ...
Bonaventure Audrey - - 2013
PURPOSE: This study aimed to analyze the associations between childhood acute leukemia (AL) and maternal caffeinated beverage consumption during pregnancy, and to explore interactions between caffeinated and alcoholic beverage consumption and polymorphisms of enzymes involved in caffeine and ethanol metabolisms. METHODS: The data were generated by the French ESCALE study, ...
van Rij M C - - 2013
This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987-1997. A total of 126 couples underwent prenatal diagnosis (PND) on ...
Hönger G - - 2013
The aim of this study was to define the frequency and determinants of pregnancy-induced child-specific sensitization shortly after full-term delivery using sensitive single HLA-antigen beads (SAB) and high resolution HLA-typing of the mothers and their children (n = 301). A positive SAB result was defined by a background normalized ratio ...
Asgari Nooshin N Department of biology, Sciences and Research Branch Islamic Azad University, Tehran, - - 2013
Numerous lines of evidence implicate Apolipoprotein E (Apo E) in lipid metabolism during pregnancy. Hence, a role for its polymorphism has been envisaged in recurrent pregnancy loss (RPL) considering major structural and functional differences between different Apo E genotypes. A case control study of 81 women with two or more ...
DovĨ-Drnovšek Tadeja - - 2013
Immunoprophylaxis with IgG anti-D is a standard prevention of hemolytic disease of the fetus and newborn. Fetal Rhesus D (RhD) blood group genotyping from maternal plasma of RhD-negative pregnant women allows targeted prophylaxis with IgG anti-D in RhD-positive pregnancies only. We set up a reliable protocol for prenatal RHD genotyping. ...
Nair Rohini R - - 2012
Glutathione S-transferase theta 1 (GSTT1) and glutathione S-transferase Mu 1 (GSTM1) enzymes of the glutathione detoxification pathway protect the embryo from oxidative stress. This study investigated GSTT1 and GSTM1 in relation to their role in conferring genetic susceptibility to pregnancy loss. In a case-control study, 174 early pregnancy loss (EPL) ...
Grande M - - 2012
OBJECTIVE: This study aims to assess the suitability of non-invasive prenatal RHD genotyping in non-immunized midtrimester pregnant women from a mixed ethnic population, to prevent unnecessary anti-D immunoglobulin prophylaxis and to identify RHD variants METHODS: Rhesus D-negative pregnant women were offered fetal RHD genotyping at 24 gestational weeks. A total ...
Gleicher Norbert N Center for Human Reproduction, New York, NY 10021, USA. - - 2013
To investigate whether androgen conversion rates after supplementation with dehydroepiandrosterone (DHEA) differ, and whether differences between patients with diminished ovarian reserve (DOR) are predictive of pregnancy chances in association with in vitro fertilization (IVF). In a prospective cohort study we investigated 213 women with DOR, stratified for age (≤ 38 ...
Hur Jinhee - - 2012
Excessive iron consumption during pregnancy can lead to increased oxidative stress in the maternal body, which may result in adverse pregnancy outcomes. Glutathione S-transferases (GSTs) originate from a superfamily of detoxifying enzymes that play a role in reducing xenobiotic compounds and oxidative stress. The aim of this study was to ...
Le Toriellec Emilie - - 2012
BACKGROUND: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is due to maternal alloimmunization against fetal platelet (PLT) antigens. Antenatal management strategies have been developed to avoid complications such as intracranial hemorrhage. The aim of this study was to set up two reliable, noninvasive fetal genotyping assays to determine the fetal risk ...
Tang Ke-Qiong - - 2012
Progesterone receptor (PGR) and estrogen receptor alpha (ESRα), which mediate the biological effects of the steroid hormones progesterone and estrogen, play a central role in the establishment and maintenance of pregnancy. The objectives of this study were to detect bovine PGR and ESRα genes polymorphisms and analyze their relationships with ...
Muniz Ludmila - - 2012
Haplotypes formed by polymorphisms (T-786C, rs2070744; a variable number of tandem repeats in intron 4, and Glu298Asp, rs1799983) of the eNOS gene were associated previously with gestational hypertension (GH) and preeclampsia (PE). However, no study has explored the Tag SNPs rs743506 and rs7830 in these disorders. The aim of the ...
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