Nonimmune Hydrops Fetalis in the Liveborn: Series of 32 Autopsies

Abstract

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF.

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

“…The combination of examination of the fetus and placenta with the results of microbiological, cytogenetic and metabolic investigations provides an etiological diagnosis for non-immune fetal hydrops in 65-85% cases in various previous studies. 11,12 The low diagnostic yield in hydrops fetalis in this study is possibly due to incomplete investigative workup for infective and metabolic disorders.…”

“…11 Structural cardiac anomalies, abnormalities of the rhythm and cardiomyopathies have been reported to account for about 50% of cases. 12 The other common causes of hydrops are chromosomal (5-33%) and infections (12-16%). 13,14 Congenital malformations, fetal akinesia syndromes and skeletal dysplasias are also reported with fetal hydrops.…”

Recurrent non‐immune hydrops fetalis with gracile bones and dysmorphic features in siblings

“…The majority of cases of HF are due to cardiovascular, chromosomal, thoracic, twinning or anemic causes [Heinonen et al, 2000;Rodriguez et al, 2005]. The etiology in the other third of cases is unknown [Machin, 1989].…”

Human Parvovirus B19: Molecular Virology, Clinical Features, Prevalence, Diagnosis and Control

“…In fact, B19 infection was the fifth most prevalent of a total of 23 individually classified NIFH aetiologies by these authors. Subsequently, Rodriguez et al (2005) have also studied the aetiology of NIFH in liveborn infants (n ¼ 429, 14-year period) who died soon after birth. Although a similar incidence of NIFH was observed to the previous study (7.45%; 32/429), the aetiology of B19-associated NIFH, in an individual with systemic infection and myocarditis, was only 3.1% (1/32 cases).…”

“…These authors have suggested that revision of current follow-up criteria may be necessary if extended viraemia is a more common occurrence than heretofore thought. Rodriguez et al (2002Rodriguez et al ( , 2005 have undertaken the analysis of NIFH in both stillborn and livebirth autopsy scenarios. Following the evaluation of 840 stillborn autopsies (Rodriguez et al, 2002), 51 cases of NIFH were observed which represented 6.07% of all stillbirths.…”