Nonimmune Hydrops Fetalis Part I: Etiology and Pathophysiology

Randenberg, Andrea L

doi:10.1891/0730-0832.29.5.281

Cited by 31 publications

(19 citation statements)

References 67 publications

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“…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

168

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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.

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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

168

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“…In some patients, it may also be associated with polyhydramnion and placental edema. Isolated congenital ascites is usually considered as part of the clinical picture of hydrops fetalis, in which the severity of peripheral edema is of a mild degree and ascites is the dominant clinical sign [1,2]. Hydrops fetalis has been a well-recognized fetal and neonatal condition throughout history.…”

Section: Introductionmentioning

confidence: 99%

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

Whybra

Mengel

Russo

et al. 2012

Orphanet Journal of Rare Diseases

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BackgroundLysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%.Patients and methodsWe report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination.ResultsAt present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication.ConclusionsLSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.

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“…In the present case, it is undoubtedly proven by the pathohistological diagnosis that one of the foetuses was suffering from severe oedema, also called Anasarca or Hydrops fetalis. This disease pattern is defined as an abnormal fluid accumulation in the foetal body, such as ascites, pleural effusion, pericardial effusion and skin oedema (Bellini & Hennekam, ; Favre et al., ; Randenberg, ), and can result from the twin–twin transfusion syndrome (Yeom et al., ). Interestingly, monochorionicity in twin pregnancies has been traditionally associated with monozygosity.…”

Section: Discussionmentioning

confidence: 99%

Monochorial diamniotic dizygotic twins in a German Shepherd Dog: A case report

Urhausen

Wolf

Beineke³

et al. 2016

Reprod Domestic Animals

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A 6.5-year-old clinically healthy German Shepherd Dog with regular oestrous cycles of 6 months was presented for pregnancy diagnosis on day 38 after ovulation (p.ov.). Ultrasonography revealed three individual placental sites in progressed resorption and two vital adequately developed foetuses sharing a joint placenta. On days 41 and 48 p.ov., sonographic signs indicated normal development of both foetuses, but on day 52 p.ov., both foetuses were found to be dead. A caesarean section was performed the same day. Examination of the removed uterus confirmed the diagnosis of a "twin" pregnancy with two foetuses sharing the same placental site but separate amniotic membranes. One foetus showed generalized oedema (anasarca). Bacterial culture of swabs taken from inside the placental cavity was negative. At histological examination of the uterus, no signs of inflammation were found. Serum relaxin concentrations (day 38, 41, 48 and 52. p.ov.) were consistent with those of bitches with normal pregnancies. Cytogenetic analysis of the two foetuses revealed dizygotic twins, one male and one female according to SRY-PCR. By genotyping 17 high-polymorphic canine microsatellites, it could be demonstrated that the two foetuses developed from two different oocytes.

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Nonimmune Hydrops Fetalis Part I: Etiology and Pathophysiology

Cited by 31 publications

References 67 publications

Etiology of non‐immune hydrops fetalis: An update

Etiology of non‐immune hydrops fetalis: An update

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

Monochorial diamniotic dizygotic twins in a German Shepherd Dog: A case report

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