scholarly journals NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

2019 ◽  
Vol 9 (1) ◽  
pp. 12
Author(s):  
Jorge L. Rodriguez-Gil ◽  
Dawn E. Watkins-Chow ◽  
Laura L. Baxter ◽  
Tadafumi Yokoyama ◽  
Patricia M. Zerfas ◽  
...  
Keyword(s):  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Age Of Onset ◽  
Transmembrane Protein ◽  
Survival Rates ◽  
Model Organism ◽  
Growth Restriction ◽  
Lung Pathology ◽  
Lysosomal Storage ◽  
Neonatal Lethality

The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and sphingolipids. NPC1 is highly heterogeneous in both clinical phenotypes and age of onset. Previous studies have reported sub-Mendelian survival rates for mice homozygous for various Npc1 mutant alleles but have not studied the potential mechanisms underlying this phenotype. We performed the first developmental analysis of a Npc1 mouse model, Npc1em1Pav, and discovered significant fetal growth restriction in homozygous mutants beginning at E16.5. Npc1em1Pav/em1Pav mice also exhibited cyanosis, increased respiratory effort, and over 50% lethality at birth. Analysis of neonatal lung tissues revealed lipid accumulation, notable abnormalities in surfactant, and enlarged alveolar macrophages, suggesting that lung abnormalities may be associated with neonatal lethality in Npc1em1Pav/em1Pav mice. The phenotypic severity of the Npc1em1Pav model facilitated this first analysis of perinatal lethality and lung pathology in an NPC1 model organism, and this model may serve as a useful resource for developing treatments for respiratory complications seen in NPC1 patients.

Endoscopic Placental Laser Coagulation in Dichorionic and Monochorionic Triplet Pregnancies

2016 ◽  
Vol 40 (3) ◽  
pp. 174-180 ◽  
Author(s):  
Gergana Peeva ◽  
Petya Chaveeva ◽  
Enrique Gil Guevara ◽  
Ranjit Akolekar ◽  
Kypros H. Nicolaides
Keyword(s):  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Laser Surgery ◽  
Survival Rates ◽  
Growth Restriction ◽  
Laser Coagulation ◽  
Endoscopic Laser ◽  
Combined Data

Objective: To report the outcome of monochorionic (MC) and dichorionic (DC) triamniotic (TA) triplet pregnancies treated with endoscopic laser coagulation of the communicating placental vessels for severe feto-fetal transfusion syndrome (FFTS) and selective fetal growth restriction (sFGR). Methods: Laser surgery was performed at 18 (15-24) weeks' gestation in 11 MCTA and 33 DCTA pregnancies complicated by FFTS and 14 DCTA pregnancies complicated by sFGR. Data from our study and previous reports were pooled using meta-analytic techniques. Results: Survival of at least one baby and survival among all fetuses was 97.0 and 72.7% in DCTA pregnancies with FFTS, 78.6 and 52.4% in DCTA pregnancies with sFGR and 81.8 and 39.4% in MCTA pregnancies with FFTS. In the combined data from our study and previous reports, the pooled survival rates in 132 DCTA pregnancies with FFTS were 94.4 and 76.1%, and in 29 MCTA pregnancies with FFTS, they were 80.6 and 57.5%. Conclusions: Survival after laser surgery is higher in DC triplets with FFTS than in those with sFGR and in DC than in MC triplets with FFTS.

FETAL GROWTH RESTRICTION WITH EARLY AND LATE MANIFESTATION, PROGNOSTIC MARKERS

2020 ◽  
pp. 27-30
Author(s):  
Yakubova D.I.
Keyword(s):  
Risk Factors ◽  
Pregnant Women ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Prenatal Screening ◽  
Prognostic Markers ◽  
Growth Restriction ◽  
Late Manifestation ◽  
Late Form ◽  
Early Manifestation

Objective of the study: Comprehensive assessment of risk factors, the implementation of which leads to FGR with early and late manifestation. To evaluate the results of the first prenatal screening: PAPP-A, B-hCG, made at 11-13 weeks. Materials and Methods: A retrospective study included 110 pregnant women. There were 48 pregnant women with early manifestation of fetal growth restriction, 62 pregnant women with late manifestation among them. Results of the study: The risk factors for the formation of the FGR are established. Statistically significant differences in the indicators between groups were not established in the analyses of structures of extragenital pathology. According to I prenatal screening, there were no statistical differences in levels (PAPP-A, b-hCG) in the early and late form of FGR.

INTRAUTERINE GROWTH RETARDATION - A REVIEW ARTICLE

2018 ◽  
pp. 184-195
Author(s):  
Minh Son Pham ◽  
Vu Quoc Huy Nguyen ◽  
Dinh Vinh Tran
Keyword(s):  
Fetal Growth ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Fetal Growth Restriction ◽  
Growth Restriction ◽  
Growth Potential ◽  
National Guidelines ◽  
Intrauterine Growth ◽  
No Gold Standard

Small for gestational age (SGA) and fetal growth restriction (FGR) is difficult to define exactly. In this pregnancy condition, the fetus does not reach its biological growth potential as a consequence of impaired placental function, which may be because of a variety of factors. Fetuses with FGR are at risk for perinatal morbidity and mortality, and poor long-term health outcomes, such as impaired neurological and cognitive development, and cardiovascular and endocrine diseases in adulthood. At present no gold standard for the diagnosis of SGA/FGR exists. The first aim of this review is to: summarize areas of consensus and controversy between recently published national guidelines on small for gestational age or fetal growth restriction; highlight any recent evidence that should be incorporated into existing guidelines. Another aim to summary a number of interventions which are being developed or coming through to clinical trial in an attempt to improve fetal growth in placental insufficiency. Key words: fetal growth restriction (FGR), Small for gestational age (SGA)

The secrets of placental mosaicism: clinical observation of the full form of confined placental trisomy 22 and literature review

2020 ◽  
Author(s):  
I.V. Komarova, A.A. Nikiforenko, A.V. Fedunyak
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Clinical Observation ◽  
Growth Restriction ◽  
Favorable Outcome ◽  
Full Form ◽  
Placental Mosaicism ◽  
In Pregnancy

Literature reports of placental mosaicism, including trisomy 22, were analyzed. The chance of correlation of placental aneuploidy with fetus aneuploidy, also the probability of complications in pregnancy and fetal growth restriction and postnatal patients growth in the cases of confined placental mosaicism, were demonstrated. The case of prenatal diagnosis of confined placental mosaicism of trisomy 22 with favorable outcome is presented. The necessity of cytogenic assay of amniocytes and fetal lymphocytes in the case of placental heteroploidy diagnosis was emphasized.

scholarly journals OC25.06: Maternal hemodynamics in hypertensive pregnancies with and without fetal growth restriction

2019 ◽  
Vol 54 (S1) ◽  
pp. 66-66
Author(s):  
H. Perry ◽  
J. Binder ◽  
J. Gutiérrez ◽  
B. Thilaganathan ◽  
A. Khalil
Keyword(s):  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Growth Restriction
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