scholarly journals Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

2021 ◽  
Vol 9 (7) ◽  
Author(s):  
Ieva Miceikaite ◽  
Geske Sidsel Bak ◽  
Martin Jakob Larsen ◽  
Britta Schlott Kristiansen ◽  
Pernille Mathiesen Torring
Keyword(s):  
Fetal Hydrops

Is digoxin still justifiable as single first-line therapy in fetal SVT associated with fetal hydrops?

2008 ◽  
Vol 68 (S 01) ◽  
Author(s):  
DJ Kersten ◽  
J McDougall ◽  
C Schuller ◽  
JP Pfammatter ◽  
L Raio ◽  
...  
Keyword(s):  
First Line ◽  
Fetal Hydrops ◽  
First Line Therapy ◽  
Line Therapy

Differentiating fetal hydrops - sonographic landmarks

2013 ◽  
Vol 34 (S 01) ◽  
Author(s):  
DR Hartge ◽  
A Schroeer ◽  
J Weichert
Keyword(s):  
Fetal Hydrops

scholarly journals Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

2021 ◽  
Author(s):  
Silvia Martin-Almedina ◽  
Kazim Ogmen ◽  
Ege Sackey ◽  
Dionysios Grigoriadis ◽  
Christina Karapouliou ◽  
...  
Keyword(s):  
Subcellular Localization ◽  
Fetal Hydrops ◽  
Clinical Phenotypes ◽  
Functional Studies ◽  
Pathogenic Variants ◽  
Disease Mechanisms ◽  
Novel Variants ◽  
Uncertain Significance ◽  
Clinical Phenotyping

Abstract Purpose Several clinical phenotypes including fetal hydrops, central conducting lymphatic anomaly or capillary malformations with arteriovenous malformations 2 (CM-AVM2) have been associated with EPHB4 (Ephrin type B receptor 4) variants, demanding new approaches for deciphering pathogenesis of novel variants of uncertain significance (VUS) identified in EPHB4, and for the identification of differentiated disease mechanisms at the molecular level. Methods Ten index cases with various phenotypes, either fetal hydrops, CM-AVM2, or peripheral lower limb lymphedema, whose distinct clinical phenotypes are described in detail in this study, presented with a variant in EPHB4. In vitro functional studies were performed to confirm pathogenicity. Results Pathogenicity was demonstrated for six of the seven novel EPHB4 VUS investigated. A heterogeneity of molecular disease mechanisms was identified, from loss of protein production or aberrant subcellular localization to total reduction of the phosphorylation capability of the receptor. There was some phenotype–genotype correlation; however, previously unreported intrafamilial overlapping phenotypes such as lymphatic-related fetal hydrops (LRFH) and CM-AVM2 in the same family were observed. Conclusion This study highlights the usefulness of protein expression and subcellular localization studies to predict EPHB4 variant pathogenesis. Our accurate clinical phenotyping expands our interpretation of the Janus-faced spectrum of EPHB4-related disorders, introducing the discovery of cases with overlapping phenotypes.

scholarly journals Non‐immune fetal hydrops: etiology and outcome according to gestational age at diagnosis

2020 ◽  
Vol 56 (3) ◽  
pp. 416-421 ◽  
Author(s):  
F. G. Sileo ◽  
A. Kulkarni ◽  
I. Branescu ◽  
T. Homfray ◽  
E. Dempsey ◽  
...  
Keyword(s):  
Gestational Age ◽  
Age At Diagnosis ◽  
Fetal Hydrops

scholarly journals Intravenous Immunoglobulin for Congenital Parvovirus Myocarditis

2018 ◽  
Vol 15 (01) ◽  
pp. 053-056
Author(s):  
Yonatan Kurland ◽  
Ranjit I. Kylat ◽  
Drew C. Johnson ◽  
Brent J. Barber ◽  
Alan D. Bedrick ◽  
...  
Keyword(s):  
Preterm Infant ◽  
Intravenous Immunoglobulin ◽  
Myocardial Dysfunction ◽  
Red Cell ◽  
Fetal Hydrops ◽  
Red Cell Aplasia

AbstractCongenital parvovirus infection has a diverse presentation ranging from asymptomatic infants to intrauterine demise secondary to red cell aplasia or myocarditis. Treatment is aimed at correcting anemia with intrauterine and postnatal transfusions. We report a case of fetal hydrops with severe atrioventricular regurgitation and myocardial dysfunction secondary to parvovirus infection in a preterm infant. Myocarditis and myocardial dysfunction responded to immunoglobulin administration.

Comparison of active and expectant management of pregnant women with non-immune fetal hydrops

2021 ◽  
Vol 2_2021 ◽  
pp. 55-60
Author(s):  
Kadyberdieva F.Z. Kadyberdieva ◽  
Shmakov R.G. Shmakov ◽  
Bockeria E.L. Bockeria ◽  
Kostyukov K.V. Kostyukov K ◽  
Tetruashvili N.K. Tetruashvili ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Expectant Management ◽  
Fetal Hydrops

scholarly journals Current Management of Congenital Pulmonary Airway Malformations: A “European Pediatric Surgeons' Association” Survey

2017 ◽  
Vol 28 (01) ◽  
pp. 001-005 ◽  
Author(s):  
Francesco Morini ◽  
Augusto Zani ◽  
Andrea Conforti ◽  
Ernest van Heurn ◽  
Simon Eaton ◽  
...  
Keyword(s):  
Pregnancy Termination ◽  
Congenital Pulmonary Airway Malformation ◽  
Prenatal Counseling ◽  
Fetal Hydrops ◽  
Online Questionnaire ◽  
Current Management ◽  
Asymptomatic Patients ◽  
Pulmonary Airway ◽  
Thoracoamniotic Shunt

Aim To define current management of congenital pulmonary airway malformation (CPAM). Methods A total of 181 European Pediatric Surgeons' Association members (91% senior) from 48 countries completed an online questionnaire. Main Results Prenatal: 93% respondents work in centers with prenatal diagnosis facilities, and 27% in centers offering in utero surgery. Prenatal counseling is performed by 86% respondents, 22% of whom see >10 cases per year. Risk of single pre-/postnatal complications is deemed low (<5%) by more than 60% of respondents. Eighty-six percent respondents do not offer pregnancy termination for prenatally diagnosed CPAM. Fetal hydrops is the most frequent indication for termination (87%), followed by parental willingness (52%). Prenatal surgery is an option for 44% respondents, preferring thoracoamniotic shunt (82%).Postnatal: 75% respondents operate on asymptomatic patients, 18% before 6 months of age, 62% between 6 and 12 months of age, and 20% after 12 months of age. Risk of infection (86%), cancer (63%), and symptoms development (62%) are indications for surgery in asymptomatic CPAM. Sixty-three percent prefer a thoracotomy. Lobectomy is the preferred procedure (58% respondents). Motivations against surgery include lesion <1 cm (64%), risk of postoperative complications (37%), and lack of evidence favoring surgery (27%). Seventeen percent respondents have seen at least one patient with CPAM with lung cancer, in 89% of the cases within the CPAM. Of all the respondents, 83% and 22% offered dedicated follow-up and genetic screening, respectively. Conclusion Current pre- and postnatal management of CPAM lacks uniformity, particularly for surgical indication, timing, and approach. Efforts should be made toward standardization. Risk of CPAM-associated cancer is not clear.

Fetal hydrops in Sardinia: implications for genetic counselling

2008 ◽  
Vol 38 (5) ◽  
pp. 327-331 ◽  
Author(s):  
R. Galanello ◽  
M. A. Sanna ◽  
L. Maccioni ◽  
D. Gasperini ◽  
M. A. Melis ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Fetal Hydrops

scholarly journals P27.14: Arterial embolization in arterial venous shunt: about our experience in the management of placental chorioangiomas with fetal hydrops

2010 ◽  
Vol 36 (S1) ◽  
pp. 276-277 ◽  
Author(s):  
G. Haddad ◽  
D. Herbreteau ◽  
E. Simon ◽  
J. Develay-Morice ◽  
F. Perrotin
Keyword(s):  
Arterial Embolization ◽  
Fetal Hydrops ◽  
Venous Shunt
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