The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingThe monogenic background of hydrops fetalis.

2021 ◽  
Author(s):  
Tova Wagner ◽  
Duha Fahham ◽  
Frumkin Ayala ◽  
Avraham Shaag ◽  
Simcha Yagel ◽  
...  
Keyword(s):  
Hydrops Fetalis ◽  
The Many ◽  
Nonimmune Hydrops

Lysosomal Storage Disorders as an Etiology of Nonimmune Hydrops Fetalis: A Systematic Review

2021 ◽  
Author(s):  
Neel S. Iyer ◽  
Alexis C. Gimovsky ◽  
Carlos R. Ferreira ◽  
Elizabeth J. Critchlow ◽  
Huda B. Al‐kouatly
Keyword(s):  
Systematic Review ◽  
Lysosomal Storage Disorders ◽  
Hydrops Fetalis ◽  
Lysosomal Storage ◽  
Nonimmune Hydrops ◽  
Storage Disorders

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

2021 ◽  
Author(s):  
Huda B. Al-Kouatly ◽  
Mona M. Makhamreh ◽  
Stephanie M. Rice ◽  
Kelsey Smith ◽  
Christopher Harman ◽  
...  
Keyword(s):  
Hydrops Fetalis ◽  
Diagnosis Rate ◽  
Nonimmune Hydrops

Nonimmune Hydrops fetalis: Fetal and Neonatal Outcome during 1983–1992

Neonatology ◽  
1998 ◽  
Vol 75 (2) ◽  
pp. 73-81 ◽  
Author(s):  
Leontien S. Wafelman ◽  
Brad H. Pollock ◽  
Jacqueline Kreutzer ◽  
Douglas S. Richards ◽  
Alastair A. Hutchison
Keyword(s):  
Neonatal Outcome ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops

scholarly journals OP28.06: Prenatal diagnosis of nonimmune hydrops fetalis: what do we tell the parents?

2010 ◽  
Vol 36 (S1) ◽  
pp. 135-135
Author(s):  
S. F. Santo ◽  
T. D. Dias ◽  
S. Mansour ◽  
T. Homfray ◽  
S. Calvert ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops

scholarly journals hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia

2018 ◽  
Vol 215 (9) ◽  
pp. 2339-2353 ◽  
Author(s):  
Duncan I. Mackie ◽  
Fuad Al Mutairi ◽  
Reema B. Davis ◽  
Daniel O. Kechele ◽  
Natalie R. Nielsen ◽  
...  
Keyword(s):  
Hydrops Fetalis ◽  
Genetic Ablation ◽  
First Case ◽  
Biochemical Assays ◽  
Signaling Axis ◽  
Vascular Proliferation ◽  
Lymphatic Dysplasia ◽  
Necessary And Sufficient ◽  
Nonimmune Hydrops

We report the first case of nonimmune hydrops fetalis (NIHF) associated with a recessive, in-frame deletion of V205 in the G protein–coupled receptor, Calcitonin Receptor-Like Receptor (hCALCRL). Homozygosity results in fetal demise from hydrops fetalis, while heterozygosity in females is associated with spontaneous miscarriage and subfertility. Using molecular dynamic modeling and in vitro biochemical assays, we show that the hCLR(V205del) mutant results in misfolding of the first extracellular loop, reducing association with its requisite receptor chaperone, receptor activity modifying protein (RAMP), translocation to the plasma membrane and signaling. Using three independent genetic mouse models we establish that the adrenomedullin–CLR–RAMP2 axis is both necessary and sufficient for driving lymphatic vascular proliferation. Genetic ablation of either lymphatic endothelial Calcrl or nonendothelial Ramp2 leads to severe NIHF with embryonic demise and placental pathologies, similar to that observed in humans. Our results highlight a novel candidate gene for human congenital NIHF and provide structure–function insights of this signaling axis for human physiology.

Nonimmune Hydrops Fetalis

1987 ◽  
Vol 9 (6) ◽  
pp. 197-202
Author(s):  
Barbara C. McGillivray ◽  
Judith G. Hall
Keyword(s):  
Mortality Rate ◽  
Cardiac Rhythm ◽  
Hydrops Fetalis ◽  
Entire Body ◽  
Serous Fluid ◽  
Fetal Hydrops ◽  
Abnormal Accumulation ◽  
Metabolic Screening ◽  
Nonimmune Hydrops ◽  
Blood Grouping

Hydrops fetalis or fetal hydrops is defined as a generalized abnormal accumulation of serous fluid in the entire body including abnormal collection in tissues and body cavities. It is not a specific disease but the end result of many fetal conditions. Presentation may be prenatal with ultrasound diagnosis on at the time of delivery. There are many causes of fetal hydrops including cardiac, pulmonary, chromosomal, hematologic, and metabolic. The mortality rate is high, with the best survival in those infants who have cardiac rhythm abnormalities. Proper assessment of the infant with hydrops requires familiarity with the major causes and a stepwise protocol for investigation. Not only are the usual blood-grouping studies important, but also chromosomal analysis, metabolic screening, and carefully performed autopsy. The aim of the protocol that is suggested is to improve intrauterine detection and survival after birth and to ascertain the cause of the condition to aid in counseling and care in subsequent pregnancies.

Sign in / Sign up

Export Citation Format

Share Document