Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia

Bellini, Carlo; Hennekam, Raoul C. M.; Boccardo, Francesco; Campisi, Corradino; Serra, Giovanni; Bonioli, E

doi:10.1002/ajmg.a.31100

Cited by 22 publications

(17 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is also evident in the percentage of cases assigned to the Lymphatic dysplasia category which showed a remarkable increase in the present review compared to the previous review. The recent literature describing the relationship between NIHF and congenital lymphatic dysplasia may well have led to increased awareness of the role of lymphatic system disorders in NIHF [Rodríguez et al, Bellini et al, , ; Randenberg , ; Bellini and Hennekam, ; Désilets and Audibert, ]. Indeed, assigning patients with, for instance, Turner syndrome to the Lymphatic dysplasia category may have led to a further decrease in the Chromosomal category.…”

Section: Discussionmentioning

confidence: 99%

Etiology of non‐immune hydrops fetalis: An update

Bellini

Donarini

Paladini

et al. 2015

American J of Med Genetics Pt A

Self Cite

168

View full text Add to dashboard Cite

Hydrops fetalis is an excessive fluid accumulation within the fetal extra vascular compartments and body cavities. Non-immune hydrops fetalis (NIHF), due to causes other than Rh alloimmunization, is the cause in >85% of all affected individuals. Herein we present an update of our earlier systematic literature review [Bellini et al., 2009] using all publications between 2007 and 2013. We excluded most of the initial 31,783 papers by using strict selection criteria, thus resulting in 24 relevant NIHF publications describing 1,338 individuals with NIHF. We subdivided the affected individuals into 14 classification groups based on the cause of NIHF (percentage of the total group): Cardiovascular (20.1%), Hematologic (9.3%), Chromosomal (9.0%), Syndromic (5.5%), Lymphatic Dysplasia (15.0%), Inborn Errors of Metabolism (1.3%), Infections (7.0%), Thoracic (2.3%), Urinary Tract Malformations (0.9%), Extra Thoracic Tumors (0.7%), TTTF-Placental (4.1%), Gastrointestinal (1.3%), Miscellaneous (3.6%), Idiopathic (19.8%). We discuss the results of the review. There may be some shifts in the percentages of etiological categories as compared to the previous review, but the small numbers within each category make drawing firm conclusions hazardous. We highlight the need for multi-center series of NIHF cases collected and classified using the same schemes in diagnostic work-ups to allow for comparisons of larger numbers of cases.

show abstract

Section: Discussionmentioning

confidence: 99%

Etiology of non‐immune hydrops fetalis: An update

Bellini

Donarini

Paladini

et al. 2015

American J of Med Genetics Pt A

Self Cite

168

View full text Add to dashboard Cite

show abstract

“…Bellini et al suggested that lymphatic dysplasia may at times account for the “idiopathic form” of HF. Ghalamkarpour et al supported this, highlighting a mutation in 2 lymphagiogenic genes in 3 idiopathic NIHF cases (VEGFR3 and FOXC2).…”

Section: Discussionmentioning

confidence: 99%

Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm

et al. 2018

View full text Add to dashboard Cite

Objective The aim of this study was to outline the disease etiology in a cohort of fetuses prenatally diagnosed with nonimmune hydrops fetalis (NIHF). Methods Based on a literature review, we defined precise criteria to select the NIHF cases. Those were further classified into 14 categories. To complete this first step, a literature review was performed by using homogeneous criteria to compare our results. Results Over the 10‐year period, 102 fetuses were diagnosed with NIHF and included in the analysis. The etiology was identified in 86.3% (88/102) of them, with diagnostic distribution from the most prevalent to the least frequent (number of fetuses; %) being: chromosomal (33/102; 32.4%), lymphatic dysplasia (14; 13.7%), cardiovascular (10; 9.8%), “syndromic” (10; 9.8%), infection (8; 7.8%), and hematologic (8; 7.8%). Conclusion This literature review enabled us to emphasize the absence of homogeneous criteria used to define NIHF. When compared with literature, our data analysis highlighted the relevance of applying our full diagnostic approach to decrease the rate of idiopathic NIHF cases.

show abstract

“…The central disturbance is a low output failure of the lymphatic system, that is, the overall lymphatic transport is reduced. This derangement occurs not only in lymphatic dysplasias but also in increased central venous pressure, as this causes difficulties in draining the lymph into venous circulation as well [Bellini et al, 2006b].…”

Section: Discussionmentioning

confidence: 99%

Etiology of nonimmune hydrops fetalis: A systematic review

Bellini

Hennekam

Fulcheri

et al. 2009

American J of Med Genetics Pt A

Self Cite

203

184

View full text Add to dashboard Cite

Hydrops fetalis (HF) indicates excessive fluid accumulation within the fetal extravascular compartments and body cavities. HF is not a diagnosis in itself but a symptom, and the end-stage of a wide variety of disorders. In the era before routine immunization of Rhesus (Rh) negative mothers, most cases of hydrops were due to erythroblastosis from Rh alloimmunization, but nowadays, nonimmune hydrops fetalis (NIHF) is more frequent, representing 76-87% of all described HF cases. We performed a systematic review of the pertinent literature based on the QUality Of Reporting Of Meta-analyses (QUOROM) recommendations, using a QUOROM flowchart and QUOROM checklist. At initial screening 33,345 articles were retrieved. The various inclusion and exclusion criteria aimed at obtaining data that were as unbiased yet as complete as possible decreased the numbers dramatically, and eventually a total of 225 relevant NIHF articles were identified, describing 6,361 individuals. We established 14 different diagnostic categories and provide the pathophysiologic background of each, if known. All 6,361 patients were subclassified into one of the following diagnostic categories: Cardiovascular (21.7%), hematologic (10.4%), chromosomal (13.4%), syndromic (4.4%), lymphatic dysplasia (5.7%), inborn errors of metabolism (1.1%), infections (6.7%), thoracic (6.0%), urinary tract malformations (2.3%), extra thoracic tumors (0.7%), TTTF-placental (5.6%), gastrointestinal (0.5%), miscellaneous (3.7%), and idiopathic (17.8%).

show abstract

Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia

Cited by 22 publications

References 27 publications

Etiology of non‐immune hydrops fetalis: An update

Etiology of non‐immune hydrops fetalis: An update

Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm

Etiology of nonimmune hydrops fetalis: A systematic review

Contact Info

Product

Resources

About