Nonimmune Hydrops Research Articles

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. This study reviews prenatal and neonatal characteristics of CDG presenting with NIHF. A systematic literature search was performed. Thirteen articles met the inclusion criteria. Twenty-one cases with NIHF associated with a CDG were reported. There were 17 live births, three pregnancy terminations, and one fetal demise. Timing of CDG diagnosis was reported mostly postnatally (90%; 10/11). Postnatal genetic testing was reported in 18 patients; three patients were diagnosed by isoelectric focusing of serum transferrin that showed a type 1 pattern. The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). In our review, 81% (17/21) reported facial dysmorphism, 52% (11/21) reported CNS abnormalities, most commonly cerebellar atrophy (64%; 7/11), and 38% (8/21) reported cardiovascular abnormalities, most commonly hypertrophic cardiomyopathy (63%; 5/8). Among live births, 71% (12/17) infants died at a median age of 34 days (range 1-185). Thrombocytopenia was reported in 53% (9/17) patients. Of those who survived past the neonatal period, 80% (4/5) had significant reported developmental delays. CDG should be on the differential diagnosis of NIHF in the presence of cerebellar atrophy, hypertrophic cardiomyopathy, or thrombocytopenia. Our review highlights the poor prognosis in infants with NIHF due to CDG and demonstrates the importance of identifying these disorders prenatally to guide providers in their counseling with families regarding pregnancy management. SYNOPSIS: Poor prognosis in fetuses and infants with nonimmune hydrops fetalis due to congenital disorders of glycosylation highlights the importance of prenatal diagnosis of this disorder.

Thoracic duct-to-vein anastomosis for the management of thoracic duct outflow obstruction in newborns and infants: a CASE series

BackgroundThoracic duct (TD) outflow obstruction causes high morbidity and mortality in newborns. It can be congenital/idiopathic or acquired (secondary to central venous thrombosis or injury during cardiothoracic surgery). Re-routing the TD to the venous system by microsurgical techniques to restore lymphatic flow is a potential surgical solution. We present a series of newborns and infants who underwent thoracic duct-to-vein anastomosis (TDVA) to restore TD outflow. Materials and methodsA retrospective review of all TDVA September 2015–March 2019 was performed. All patients underwent extensive pre-operative imaging evaluation by dynamic MRI and fluoroscopic lymphangiography. The TDVAs were done under high-power microscopy. ResultsEight patients underwent TDVA. Age at surgery was 1 to 9 months. Four patients had a history of cardiac surgery (one with complete thrombosis of the central venous system), one patient had a history of ECMO and thrombosis of the SVC, and three patients had a history of fetal hydrothorax and non-immune hydrops. Six patients had a successful TDVA with restoration of the lymphatic flow through the TD and clinical improvement. Two patients had a technically adequate TDVA but without improvement of the flow due to persistently high central venous pressure. Five patients remain alive, two patients died from complications of the lymphatic disorder, and one patient died from an unrelated cause. ConclusionsPatients with congenital or acquired TD outlet obstruction for whom no improvement is achieved by non-surgical interventions may benefit from TDVA. A thorough understanding of the anatomy and physiology of each patient is critical for the success of the operation. Level of EvidenceLevel IV.

Seroprevalence of anti-Parvovirus B19 IgG in childbearing age women in Pleven region (Bulgaria)

Abstract Background Parvovirus B19 is a widespread infection in childhood. Seroprevalence of anti-Parvovirus B19 increases with age and about 60% to 70% of women of childbearing age have serological evidence of past exposure to virus. Diaplacental Parvovirus B19 infection in pregnant women can lead to anaemia, non-immune hydrops fetalis and foetal death. The aim of the study is determining the susceptibility to Parvovirus B19 in childbearing age women. Methods We conducted a prospective seroepidemiological study in which 90 healthy women of childbearing age (19 to 40 years) were tested during the period September-October 2018 in Medical Center “Clinical Institute for Reproductive Medicine”- Pleven, Bulgaria. Participants were surveyed on a voluntary basis. The exclusion criteria were: presence of autoimmune disorder, immunosuppressive states, malignancy and populations at risk such as persons under 18 years of age and pregnant women. The presence of specific Parvovirus B19 IgG was detected using a standardized anti-Parvovirus B19 (IgG) ELISA kit. The demographic and anamnestic data were collected for each participant in Case Report Form. Results The average age of the women was 31.4 ± 4.9 years. Dominating were women with higher education (52.2%) living in urban areas (92.2%). The survey results showed that 37.8% of women were positive for anti-Parvovirus B19 IgG, 61.1% were negative and 1.1% equivocal. Immunty to the virus increased from 27.3% to 45% with age. There was no significant correlation between the presence of antibodies and the demographic factors (living area, education and number of family members). Conclusions The results of this study imply that 61.1% of the childbearing age women in Pleven region are susceptible to infection with Parvovirus B19. Because of the high susceptibility to Parvovirus B19, active monitoring of risk groups pregnant women for the prevention of fetal complications is recommended. Key messages There is no specific treatment or prophylaxis against Parvovirus B19 infection and epidemiological surveillance requires the introduction of effective preventive measures at the public health level. Active monitoring in childbearing age women is necessary to reduce the risk of fetal damage and the cost of healthcare associated with the infection.

Клинико-лабораторная диагностика и исходы неиммунной водянки плода парвовирусной этиологии

Клинико-лабораторная диагностика и исходы неиммунной водянки плода парвовирусной этиологии

Neonatal non-immune hydrops due to large placental chorioangioma -a treatable cause of hydrops

The term non-immunologic hydrops fetalis (NIHF) defines an edematous fetus with fluid collections in some usually two or all serous cavities that does not have erythroblastosis fetalis from isoimmunization. Ballantyne described the first case of non-immune hydrops. In 1943 Dr Edith Potter published the first description of NIHF. Hydrops Fetalis is considered as a prenatal form of cardiac failure. Hydrops may present as a stiffness of one limb due to edema (present case) to severe generalized anasarca with bilateral pleural effusion. Usually non-immune hydrops associated with severe morbidity and mortality. NIHF not only caused by fatal fetal causes like Chromosomal, alpha thalassemia, infections and cardiac causes but also caused by placental causes like twin to twin transfusion syndrome and placental tumours like placental chorioangioma, among these last entity usually have good prognosis if we managed properly in utero or at the time of delivery and early postnatal days. Some cases of non-immune hydrops amenable to treatment and will have better prognosis like chylothorax, CCAM, Supra Ventricular Tachycardia (SVT), bladder obstruction and hydrothorax.

Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy

To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy (DCM) of the fetus. DNA was extracted from fetal tissue as well as peripheral blood samples from the couple. Single nucleotide polymorphism array (SNP array) and next-generation sequencing (NGS) were carried out to screen potential mutation. Suspected mutation was validated with PCR and Sanger sequencing. The manifestation of fetal echocardiography was consistent with DCM. No obvious abnormality was found by SNP array analysis. A hemizygous c.481G>A (p.G161R) mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing. The mutation was inherited from his mother. Barth syndrome due to the c.481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.

EP05.03: An atypical case of Turner syndrome

Turner syndrome is a genetic disease with a karyotype of 45, X or 46, XX/45, X (mosaicism). 1/2500 female live births are affected, although 15% of spontaneous miscarriages show an X monosomy and only 1% of fetuses will survive to term. Typical prenatal findings are nuchal cystic hygroma, nonimmune hydrops, and renal and cardiac abnormalities. However, neither sonography nor maternal serum screening can be considered diagnostic of Turner syndrome, and karyotype confirmation is mandatory. A 38-year-old III gravida II para presented for first trimester screening in 13 gestational weeks. The first child was born with biliar atresia and needed living liver donation at the age of 3 weeks. The 2nd child is healthy. This fetus presented with a nuchal fold of 3.3.mm, generalised edema and an early IUGR at a CRL of 55mm. The nasal bone was hypoplastic. The fetus showed hypertelorism, low set ears and a strawberry shaped head. The IT was not visible and a sacral spina bifida was detected. Besides an omphalocele, there was a congenital heart defect, suspicious for TOF with pericardial effusion, cardiomegaly, VSD, overriding aorta and suspected pulmonary stenosis. CVS was performed but probably contaminated by maternal cells. In the framework of scientific research postnatal molecular karyotyping could surprisingly confirm 45/X0 twice. In conclusion, as our case shows, Turner syndrome can present with a broad heterogenity of signs and symptoms. The wide range of prenatal features indicates that a number of different X-located genes are responsible for the complete phenotype. Nevertheless affected fetuses show a substantial number of early-onset signs that can be detected in the first trimester, i.e. cystic hygroma, fetal hydrops, cardiac defects and increased nuchal translucency and can be diagnosed in early pregnancy. The difference in the appearance of NT in each chromosomal defect may reflect the heterogeneity of causes, hence invasive diagnostics is mandatory. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

An Autopsy Case of Severe Nonimmune Hydrops Fetalis Secondary to Premature Closure of the Foramen Ovale

Abstract Hydrops fetalis is a condition in the fetus characterized by excessive fluid accumulation within the fetal extravascular compartments and body cavities occurring prenatally. Nonimmune hydrops fetalis is the predominant (>85%) cause of all affected individuals (cardiovascular is the leading etiological category). Herein we present an autopsy case of severe nonimmune hydrops fetalis. The decedent was delivered from a blood type A Rh-positive mother. The overall autopsy findings are diffuse subcutaneous edema, significant ascites, pleural effusion, and pericardial effusion. The major autopsy finding is the premature closure of the foramen ovale of the heart, in addition to enlarged heart and liver. Premature closure of the foramen ovale may occur at any stage of pregnancy and may be due to multiple causes and has been reported as a cause of hydrops fetalis. It is well known that the foramen ovale is the shortcut through which the fetal heart provides oxygenated blood to preferential organs, mainly the brain and the heart itself, and normally closes at birth. The timing of the premature closure of the foramen ovale in fetus is critical: its closure late during pregnancy has been associated with right heart failure, while its closure very early during pregnancy frequently results in a hypoplastic left heart due to decreased blood flow, with an aneurysm consistently bulging into the left atrium, which ultimately leads to right heart failure. Both, if uncorrected in time, can ultimately lead to hydrops fetalis and fetal death. Other structural abnormalities, like pulmonary vascular disease/irreversible pulmonary hypertension, and enlarged edematous placenta, may further aggravate obstruction to venous return to fetal heart, setting up a vicious cycle. In summary, the newborn baby died of complications of nonimmune hydrops fetalis due to the premature closure of the foramen ovale of the heart.

Sensitivity, specificity, and accuracy of fetal echocardiography for high-risk pregnancies in a tertiary center in Egypt

BackgroundAdvances in fetal echocardiography training among pediatric cardiologists have led to substantial improvements in prenatal detection of congenital heart diseases (CHDs). Nevertheless, diagnostic accuracy varies among centers. Moreover, this subspecialty continues to evolve in developing countries, with limited studies assessing fetal echocardiography sensitivity, specificity, and accuracy in developing countries such as Egypt. Subject and methodsHigh-risk pregnancies referred for fetal echocardiography from January 2011 to January 2019 were analyzed retrospectively. All of the cases included had one of the high-risk indications for fetal echocardiography. Maternal age and gestational age at the prenatal diagnosis were determined, and detailed fetal and neonatal echocardiograms were documented. The results of fetal and postnatal echocardiography were compared to assess the sensitivity, specificity, and accuracy of fetal echocardiography. A minor lesion was defined when no postnatal intervention was needed and a major anomaly when postnatal cardiac therapy, surgery, or intervention was required. ResultsOut of 615 pregnant patients referred, comparisons between fetal and neonatal echocardiography were possible in 458 fetuses, with 157 patients excluded from the study. The mean maternal age in the study was 26.97±5.871 years and the mean gestational age at referral was 27.24±5.407 weeks. The most common indication for prenatal echocardiography in this cohort was a family history of CHD (142; 31%) followed by nonimmune hydrops (97; 21.18%) and abnormal obstetrical ultrasound screening (64; 13.97%). We had three false-positive minor diagnoses and four false-negative cases with only one requiring intervention. Prenatal diagnosis in this study was accurate in 98.47% of cases. The sensitivity, specificity, and accuracy of fetal echocardiography in the current work were 97.03%, 99.07%, and 98.47, respectively. ConclusionFetal echocardiography is considered a highly sensitive specific tool for prenatal detection of congenital heart diseases in high-risk pregnancies even in developing countries. However, minor fetal cardiac disorders are challenging to diagnose and family counseling should emphasize the difficulty of excluding or confirming such lesions.

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases

Non-immune hydrops fetalis (NIHF) is a complex condition with a high mortality and morbidity rate. Here we report the etiology and outcome of 1004 fetuses with NIHF, in a large single Maternal and Children’s hospital of Southern China, since the year of 2009 to 2016. Among these 1004 fetuses with NIHF, the etiology was identified prenatally in 722 of them (72%). The most common ones were hematologic diseases and chromosomal abnormalities. There were eight spontaneous abortions, 18 intrauterine fetal demise, 672 pregnancy terminations and 87 were lost to follow-up. 219 of the 1004 fetuses were live-born and the overall survival rate was 21.8% at this point. After birth 16 perinatal or early neonatal deaths were encountered and five lost to follow-up. Of the remaining 198 newborns, 153 thrived without apparent morbidity. The most significant factors associated with mortality were prematurity and low birthweight. In conclusion, we described the largest report of underlying causes and outcome of NIHF in Southern China. Etiologies were identified for 72% of 1004 fetuses with NIHF. And two poor prognostic factors for survival are preterm birth at less than 36.5 weeks and birthweight lower than 2575 g respectively.

A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF.

Clinical case of non-immune hydrops in a preterm infant with paroxismal tachycardia

Non-immune hydrops of the fetus is a heterogeneous pathology, which is usually the final stage in the development of intrauterine diseases, manifested by clinically pronounced hydration in the absence of signs of immune sensitization. This pathology is characterized by relatively high mortality in both antenatal and postnatal periods. The causes of non-immune hydrops of the fetus are very diverse, arrhythmias being one of common causes of non-immune hydrops. As are a starting factor for the development of non-immune hydrops in utero they are more often observed in the period from 29 to 32 weeks of gestational age. The reasons for a fetus to be prone to develop arrhythmias in the later stages of pregnancy are unknown. However, they may be due to changes velocity of impulse propagation along the aberrant pathways of the cardiac conducting system. Nevertheless, it is this factor that further leads to the accumulation of fluid in serous cavities and tissues, the most common form of arrhythmia in the fetus being supraventricular tachycardia. The article describes a clinical case of non-immune hydrops in a preterm infant with supraventricular paroxysmal tachycardia is presented. The close relationship between rhythm disturbance in the fetus as well as the emergency and further increasing of non-immune hydrops is noted. The symptoms of this pathology are discussed, the data of functional and laboratory diagnostic methods. Attention is paid to parameters of mechanical ventilation of the lungs; scheme of cardiotonic support in the treatment of this case of non-immune hydrops is given.

Diamond\u2013Blackfan anemia RPL35A: a case report

BackgroundDiamond–Blackfan anemia is a rare congenital red blood cell aplasia characterized by failed erythropoiesis, congenital abnormalities in up to 50% of patients, growth retardation in up to 30% of patients, and a predisposition to malignancy. Diamond–Blackfan anemia is both clinically and genetically a heterogenous condition ranging from subtle asymptomatic erythroid abnormalities to non-immune hydrops fetalis. Current treatment options include corticosteroid therapy, chronic red blood cell transfusions, and hematopoietic stem cell transplantation with gene therapy receiving recent attention. We report the first documented case of Diamond–Blackfan anemia in a Caucasian girl secondary to a sporadic heterozygous whole gene deletion in RPL35A in South Africa. Limited resources, non-availability of tests, unfamiliarity that comes with rare diseases, an expanded differential diagnosis, and an associated neutropenia led to a delay in the diagnosis of Diamond–Blackfan anemia. This case reminds clinicians of Diamond–Blackfan anemia as a cause of aplastic anemia and highlights the difficulty and obstacles in diagnosing Diamond–Blackfan anemia in resource-limited countries.Case presentationWe report a case of a 6-week-old Caucasian girl presenting with urosepsis and heart failure secondary to a severe anemia and neutropenia. Limited experience and resources resulted in a delay in diagnosis. Genetic studies later confirmed a heterozygous whole gene deletion of RPL35A. Initial treatment was directed toward correcting the anemia with red blood cell transfusion every 3 to 5 weeks.ConclusionDiamond–Blackfan anemia is a rare disease that carries significant morbidity and mortality if not diagnosed early and managed appropriately. Limited health resources, patient registries, and specialists as seen in developing countries result in a paucity of knowledge about Diamond–Blackfan anemia in Africa. This case reminds clinicians about Diamond–Blackfan anemia as a cause for anemia in infants, the limitations in making the diagnosis in under-resourced health care systems, and the need for standardized treatment protocols applicable to resource-limited countries.

Identification and in-silico analysis of a novel disease-causing variant in the GUSB gene for Mucopolysaccharidosis VII presenting as non-immune fetal hydrops

BackgroundMucopolysaccharidosis type VII (MPS VII - Sly disease) is a very rare lysosomal storage disorder caused by biallelic variants in the GUSB gene. Materials and methodsWe report here an Asian Indian family with recurrent non-immune fetal hydrops where lysosomal enzyme analysis in the prenatal sample (cultured amniocytes) revealed the diagnosis of MPS VII and molecular genetic testing of the GUSB gene was performed through next generation sequencing (NGS). ResultsA novel homozygous likely pathogenic missense variant (c.893C>T; p.Ala298Val) was detected in the GUSB gene. Further in silico analysis of the variant using mutation prediction software and in silico protein modeling was done, to understand the pathogenicity of the variant and its effect on the protein structure. Discussion and conclusionNGS can be used for mutation analysis of genes with multiple pseudogenes, but subsequent Sanger sequencing-based validation through selective amplification of the concerned exon from the actual gene is essential for confirmation. This is the first mutation report of the GUSB gene from India.

Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal-Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology. Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach-Merritt syndrome. In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.

Successful intrauterine treatment of nonimmune hydrops fetalis due to pericardial tumor

The prenatal diagnosis of pericardial tumor is extremely rare.
 It may have serious consequences such as massive pericardial
 effusion, cardiac tamponade, hydrops fetalis and fetal demise.
 We present a case of nonimmune hydrops fetalis secondary
 to pericardial mass which was successfully treated in utero
 by serial pericardiocentesis. Also, we present a review of the
 literature regarding the intrauterine interventions performed
 in pericardial tumor cases. At 24 weeks’ gestation ascites,
 diffuse subcutaneous edema at the thorax and abdomen, scalp
 edema and two masses within severe pericardial effusion were
 detected. After the pericardiocentesis performed at 25, 28 and
 29 weeks’ gestation, ascites and scalp edema resolved, and the
 pericardial effusion regressed gradually. The size of masses did
 not change throughout the gestation. After the infant was born
 at 37 weeks’ gestation, the masses shrunk spontaneously within
 five months

Management of Fetal Supraventricular Tachycardia: Three Cases at a Single Institution

Fetal tachycardia complicates 1-2% of pregnancies, and a large percentage of these arrhythmias are supraventricular. Sustained fetal tachycardia can have serious complications for the fetus, including cardiovascular failure, nonimmune fetal hydrops, and fetal death. Management of fetal tachycardia depends on multiple factors. Here we present three different cases of fetal supraventricular tachycardia (SVT) and their management at a single institution.

Fetal myocarditis – a precursor of undesirable consequences of intrauterine infection with parvovirus B19

Objective: to conduct a retrospective analysis of the results of sonographic, virological and morphological studies of cases of non-immune hydrops fetalis followed by intrauterine fetal death because of severe cardiovascular insufficiency (SCI) against parvovirus infection (PVI) with the aim of identifying signs of an adverse perinatal prognosis for the fetus. Object and methods. Infection of pregnant women was detected by serological diagnostics of specific antibodies IgM and IgG to parvovirus B19. Intrauterine fetal infection was confirmed by polymerase chain reaction (PCR). An antenatal diagnosis of hydrops fetalis was made using ultrasound scanning; intracranial hemodynamics, fetal myocardial hemodynamics and heart function were monitored using Doppler ultrasound with calculation of peripheral vascular resistance indices. The myocardium of human fetus was studied histologically with hematoxylin and eosin staining. Results. In 15/33 (45.5 %) cases of infection with parvovirus B19 non-immune fetal hydrops was diagnosed in the II–III trimesters of pregnancy. The development of CVI, which arose secondary, against the background of myocarditis with/without fetal anemia (FA) was found in all the cases of fetal loss – 6/15 (40 %), in which the presence of parvovirus DNA in the pericardial effusion was proven after autopsy by the results of a polymerase chain reaction. Conclusions. Myocarditis as a result of PVI promotes the emergence of CVI with the development of hydropericardium, has a fatal prognosis for the fetus, despite attempts to intrauterine blood transfusion in the III trimester. Fetal myocarditis against the background of non-immune fetal hydrops hinders timely non-invasive diagnosis of severe FA, is the cause of CVI which leads to extremely unfavorable consequences for the fetus.

EARLY FETAL HYDROPIC CHANGES ARE ASSOCIATED WITH MODERATE DILATATION OF THE BRAIN VENTRICULAR SYSTEM: A CLUE TO A POSSIBLE LINK BETWEEN CERVICAL LYMPHATIC ENGORGEMENT AND VENTRICULAR DILATATION?

The aim of this study is to assess whether early cervical lymphatic obstruction is associated with a sonographically detectable dilatation of the ventricular system in the 1st trimester of pregnancy. In particular, the objective is to assess whether fetuses with non-immune hydrops fetalis (NIHF), cystic hygroma, or enlarged nuchal translucency (NT) have a greater atrial width/biparietal diameter (AW/BPD) ratio than normal at time of the combined first trimester screening scan. This retrospective study included 96 first trimester fetuses (33 normal and 63 with various degree of cervical lymphatic engorgement). Inclusion criteria were CRL in the 45-84 mm range and availability of one or more three-dimensional volume datasets of the fetal head, acquired from the BPD plane. Each three-dimensional volume dataset was opened and multiplanar correlation employed to align the three orthogonal planes. The ratio between the atrial width and the BPD (AW/BPD ratio) was used to evaluate the possible presence of increased amount of cerebrospinal fluid. Abnormal cases were placed into 4 categories: 1) enlarged non-septated NT 2.5-3.9 mm, no hydrops; 2) grossly enlarged non-septated NT / edema >3.9 mm; 3) cystic hygroma and/ or NIHF; 4) major anomalies with NT <2.5 mm. Presence of dilatation of the laterocervical jugular lymphatic sacs, karyotype and presence of congenital anomalies were also recorded. The One-way ANOVA test was used to compare means. Intra- and inter-observer variability were also assessed. The AW/BPD ratio was found to be significantly higher in fetuses with grossly enlarged NT/nuchal edema and NIHF/septated cystic hygroma than in normal (p <0.05 and p <0.01, respectively). Also, the AW/BPD ratio was significantly higher in NIHF/septated cystic hygroma than in enlarged NT 2.5-3.9 mm (p <0.05). In case of enlarged NT (2.5-3.9 mm), the AW/BPD ratio is significantly higher in presence of JLS (p <0.01). At the end of the first trimester, presence of cervical lymphatic engorgement, in terms of grossly enlarged NT, nuchal edema, septated cystic hygroma, and NIHF, is statistically associated with a moderate dilatation of the ventricular system. Of note, among fetuses with moderately enlarged NT, those with evidence of dilatation of the JLS show a statistically significant increase in the AW/BPD ratio.

Spontaneous resolution of severe non-immune hydrops fetalis with unknown etiology in the 32 nd week of pregnancy: a case report and short review

Non-immune hydrops fetalis (NIHF) is a symptom of other underlying complications during pregnancy, such as lymphatic dysplasia and cardiovascular, hematologic, and chromosomal disorders. The incidence of spontaneous resolution of NIHF is 5.7% and mostly occurs in cases of known etiology. Here, the authors report the case of a 29-year-old healthy primipara admitted to the hospital at 21 weeks’ gestation due to pleural and peritoneal effusion, and edema of subcutaneous tissue of the fetus. Diagnostic examinations failed to reveal the etiology of NIHF. Due to an increase in hydrops, thoracentesis, and several cordocenteses with administration of albumins were performed. At 32 weeks, hydrops resolved completely with no recurrence. The baby, without any signs of hydrops, was delivered by cesarean section at 38 weeks. Diagnosing NIHF cases is difficult and requires many examinations to evaluate the etiology of the disorder, its management, and prognosis. NIHF resolving spontaneously without any consequences for child’s development rarely occurs.