009 Elevated Serum PCSK9 in Normal Third Trimester Pregnancy, Pre-Eclampsia and Intrauterine Growth Restriction

2012 ◽  
Vol 28 (5) ◽  
pp. S86
Author(s):  
P. Peticca ◽  
A. Gruslin ◽  
M. Cousins ◽  
E. Adetola ◽  
J. Mayne ◽  
...  
2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Jacquelyn D. Riley ◽  
Catherine M. Stefaniuk ◽  
Francine Erenberg ◽  
Angelika L. Erwin ◽  
Lauren Palange ◽  
...  

Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth restriction and cardiac defects. Other findings included hemangiomas, neutropenia, umbilical hernia, hypotonia, gross motor delay, microcephaly, and ptosis. Family history was noncontributory. Microarray analysis revealed a 5.37 Mb deletion of chromosome bands 3p26.1 to 3p26.3 and a 13.68 Mb duplication of 3p24.3 to 3p26.1. FISH analysis confirmed that the duplication was inverted. Upon literature review, only one postnatal patient and one second trimester pregnancy have been reported with this finding. Many of our patient’s features are present in both 3p deletion and 3p duplication syndromes, including congenital heart disease, growth restriction, microcephaly, hypotonia, and developmental delay. Our patient has additional features not commonly reported in 3p deletion or duplication patients, such as aortic dilation, hemangiomas, and neutropenia. The identification of this patient contributes to additional understanding of features associated with concurrent deletion and inverted duplication in the distal 3p chromosome. This report may assist clinicians working with patients who have constellations of similar features or similar cytogenomic abnormalities.


2008 ◽  
Vol 137 (2) ◽  
pp. 294-304 ◽  
Author(s):  
S. H. LANDIS ◽  
V. LOKOMBA ◽  
C. V. ANANTH ◽  
J. ATIBU ◽  
R. W. RYDER ◽  
...  

SUMMARYMaternal malaria and under-nutrition are established risk factors for small-for-gestational-age (SGA) births; however, whether malaria is associated with intrauterine growth restriction (IUGR) is unknown. We investigated IUGR risk among 177 HIV-negative pregnant women enrolled in a longitudinal ultrasound study conducted in Democratic Republic of Congo from May 2005 to May 2006. Malaria infection, maternal anthropometrics, and ultrasound estimated fetal weight were measured monthly. All positive malaria cases were treated and intermittent presumptive therapy (IPTp) provided. Log-binomial regression models for IUGR were fitted using generalized estimating equations to account for statistical clustering of repeat IUGR measurements. Twenty-nine percent of fetuses experienced an episode of IUGR with the majority occurring in the third trimester. The risk of IUGR associated with malaria was greatest after three or more cumulative infections (RR 3·3, 95% CI 1·3–8·2) and was two- to eight-fold higher among women with evidence of under-nutrition. Receiving antimalarial treatment in the previous month (for IPTp or treatment) was significantly protective against IUGR (RR 0·5, 95% CI 0·3–0·7). The interaction observed between malaria and under-nutrition suggests that antenatal programmes in malaria endemic areas should incorporate nutritional screening and supplementation in addition to IPTp.


Author(s):  
OJS Admin

In pregnancy, good uteroplacental circulation is most important in good fetal growth and normal pregnancy outcome. Pregnancies, along with specific risk factors, have a high incidence of complications andcomplicating in intrauterine growth restriction (IUGR).


2020 ◽  
Vol 13 (2) ◽  
pp. e232653
Author(s):  
Catherine Davis ◽  
Tanya Nippita

Hyperparathyroidism is a rare disease during pregnancy, which has increased risks, including miscarriage and fetal growth restriction. However, the diagnosis of hyperparathyroidism is frequently not recognised or delayed as symptoms are non-specific and calcium is not routinely measured. With a thorough medical history and clinical suspicion, early diagnosis and treatment can reduce the risk of some pregnancy complications. A 35-year-old woman presented at 13/40 with hyperemesis gravidarum. She had elevated serum calcium and a parathyroid lesion on ultrasound. She underwent a parathyroidectomy with rapid normalisation of her calcium. Histopathology confirmed a parafibromin-deficient parathyroid tumour, suggestive of hyperparathyroidism jaw tumour syndrome. At 30/40, she presented with pre-eclampsia (hypertension, hyper-reflexia, proteinuria and intrauterine growth restriction) and had a caesarean section at 30+1/40, delivering a male infant, 897 g (fifth percentile). She had a prior 12-month history of chronic constipation and nephrolithiasis but was not investigated further despite elevated calcium (2.82 mmol/L).


2006 ◽  
Vol 189 (3) ◽  
pp. 465-471 ◽  
Author(s):  
S-Y Chan ◽  
J A Franklyn ◽  
H N Pemberton ◽  
J N Bulmer ◽  
T J Visser ◽  
...  

Thyroid hormones (THs) are essential for normal fetal development, with even mild perturbation in maternal thyroid status in early pregnancy being associated with neurodevelopmental delay in children. Transplacental transfer of maternal THs is critical, with increasing evidence suggesting a role for 3,3′,5-tri-iodothyronine (T3) in development and function of the placenta itself, as well as in development of the central nervous and other organ systems. Intrauterine growth restriction (IUGR) is associated with fetal hypothyroxinaemia, a factor that may contribute to neurodevelopmental delay. The recent description of monocarboxylate transporter 8 (MCT8) as a powerful and specific TH membrane transporter, and the association of MCT8 mutations with profound neurodevelopmental delay, led us to explore MCT8 expression in placenta. We describe the expression of MCT8 in normal human placenta throughout gestation, and in normal third-trimester placenta compared with that associated with IUGR using quantitative reverse transcriptase PCR. MCT8 mRNA was detected in placenta from early first trimester, with a significant increase with advancing gestation (P=0.007). In the early third trimester, MCT8 mRNA was increased in IUGR placenta compared with normal samples matched for gestational age (P<0.05), but there was no difference between IUGR and normal placenta in the late third trimester. Western immunoblotting findings in IUGR and normal placentae were in accord with mRNA data. MCT8 immunostaining was demonstrated in villous cytotrophoblast and syncytiotrophoblast as well as extravillous trophoblast cells from the first trimester onwards with increasingly widespread immunoreactivity seen with advancing gestation. In conclusion, expression of MCT8 in placenta from early gestation is compatible with an important role in TH transport during fetal development and a specific role in placental development. Altered expression in placenta associated with IUGR may reflect a compensatory mechanism attempting to increase T3 uptake by trophoblast cells.


2006 ◽  
Vol 28 (4) ◽  
pp. 572-572
Author(s):  
M. Comas ◽  
S. Fernandez ◽  
F. Figueras ◽  
O. Gomez ◽  
J. M. Jimenez ◽  
...  

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