RETIRED: Obstetrical Complications Associated With Abnormal Maternal Serum Markers Analytes

Gagnon, Alain; Wilson, R. Douglas; Audibert, François; Allen, Victoria M.; Blight, Claire; Brock, Jo-Ann; Désilets, Valerie; Johnson, Jo-Ann; Langlois, Sylvie; Summers, Anne; Wyatt, Philip

doi:10.1016/s1701-2163(16)32973-5

Cited by 265 publications

(250 citation statements)

References 129 publications

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“…Several studies have demonstrated the association between a high MS-AFP and severe IUGR, neural tube and abdominal wall defects and fetal bowel obstruction. 17,18 AFP is a member of the albumin gene family and it is presumed to have a function in chemotaxis, oxygen free radical scavenging and lipid peroxidation. 19 It is produced predominantly during fetal life when it reaches peak levels in the third trimester, declining rapidly after birth.…”

Section: Neurologicalmentioning

confidence: 99%

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

et al. 2014

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PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing techniques, we identified a novel missense mutation in PRPS1. The clinical phenotype in our patients is characterized by high prenatal maternal a-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing of the two affected male siblings identified a shared putative pathogenic mutation c.586C4T p.(Arg196Trp) in the PRPS1 gene that was maternally inherited. Follow-up testing showed normal levels of hypoxanthine in urine samples and uric acid levels in blood serum. The PRS activity was significantly reduced in erythrocytes of the two patients. Nucleotide analysis in erythrocytes revealed abnormally low guanosine triphosphate and guanosine diphosphate. This presentation is the most severe form of PRPS1-deficiency syndrome described to date and expands the spectrum of PRPS1-related disorders.

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Section: Neurologicalmentioning

confidence: 99%

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

et al. 2014

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“…The association between low hCG (<0.5 MoM) and PAPP-A (<0.4 MoM) levels, which are measured on the 10 th -14 th weeks of pregnancy, and the complications of pregnancy has been demonstrated previously (15,16). In the present study as well, poor pregnancy outcomes could be predicted with 82.4% sensitivity and 29.8% specificity when the cut-off value was taken as 0.72 MoM in the ROC curve drawn for PAPP-A, which was measured in the 11 th -14 th weeks of pregnancy.…”

Section: Discussionmentioning

confidence: 82%

Predictive values of maternal serum PAPP-A level, uterine artery Doppler velocimetry, and fetal biometric measurements for poor pregnancy and poor neonatal outcomes in pregnant women

Balcı

2016

J Turkish German Gynecol Assoc

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“…It is usually investigated during the diagnoses of fetal chromosomal anomalies and neural tube defects in the later stages of pregnancy (13,16). Previous studies have reported a strong association between low MS-AFP (<0.05 MoM) and gestational complications, such as fetal death, spontaneous abortion, anembryonic pregnancy, preterm labor and macrosomia (16)(17)(18)(19)(20)(21). In addition to fetal chromosomal anomalies, high MS-AFP (AFP>2.5 MoM) has been shown to be related to placental pathology, multiple pregnancy and fetal death (13).…”

Section: Discussionmentioning

confidence: 99%

Low VEGF expression in conceptus material and maternal serum AFP and levels as indicators of defective angiogenesis in first-trimester miscarriages

Kutluer¹,

Çiçek²,

Moraloğlu³

et al. 2012

J Turkish German Gynecol Assoc

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Low VEGF expression in conceptus material and maternal serum AFP and β-hCG levels as indicators of defective angiogenesis in first-trimester miscarriages Objective: The aims of this study were to assess the relationship between early miscarriages and vascular endothelial growth factor (VEGF) expression and to determine the serum levels of first-trimester maternal alpha-fetoprotein (AFP) and human chorionic gonadotropin (β-hCG) as markers of angiogenesis and predictors of abortion and intrauterine fetal loss. Material and Methods:The present study was a prospective, singlecenter, randomized controlled clinical trial. Ninety-five women who were 6-10 weeks pregnant between May and June 2010 were included in the study. The subjects were divided into three groups, i.e., incomplete abortion (IA) (n=31), intrauterine death (IU-D) (n=32) and control (elective pregnancy termination) (n=32). Feto-placental materials were compared based on immune staining for VEGF in the pathology laboratory, and maternal serum samples were tested in the hormone laboratory.Results: Serum β-hCG levels in the patient groups were significantly lower than the controls (p=0.001). The serum AFP level was lower than the controls in the IA group while it was higher than the controls in the IU-D (p=0.016). Immunohistochemistry showed that the cytotrophoblast, syncytiotrophoblast and endometrial gland epithelium were weakly stained for VEGF in the patient groups (IA and IU-D) in comparison to the control group (p=0.06, p=0.028, p=0.006). Conclusion:Early pregnancy losses are related to insufficient angiogenesis, and maternal serum AFP and β-hCG can be used as markers of angiogenesis in the first trimester.(J Turkish-German Gynecol Assoc 2012; 13: 111-7) Abstract ÖzetOriginal Investigation 111

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RETIRED: Obstetrical Complications Associated With Abnormal Maternal Serum Markers Analytes

Cited by 265 publications

References 129 publications

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

Predictive values of maternal serum PAPP-A level, uterine artery Doppler velocimetry, and fetal biometric measurements for poor pregnancy and poor neonatal outcomes in pregnant women

Low VEGF expression in conceptus material and maternal serum AFP and levels as indicators of defective angiogenesis in first-trimester miscarriages

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