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Before the 20th week of gestation, the most common cause of nonimmune hydrops fetalis is chromosomal abnormalities. Herein, we report a case of fetal hydrops, anemia, and intrauterine growth retardation that presented at 27 weeks of gestation with a negative chromosomal abnormality screening. Cordocentesis and karyotype analysis revealed fetal panc...
Citations
... The neonate presented fetal hydrops, complicated by septic shock and renal failure; he was affected by Down syndrome, a chromosomic anomaly that rarely presents with fetal hydrops and anemia. This syndrome cannot be considered a drug-induced malformation [13]. ...
Introduction:
Data from the literature show that prolonged-release injectable antipsychotics (LAIs) ensure constant blood drug levels better patient compliance and offer a simpler treatment regimen for both patients and caregivers. This observational-descriptive study aims to detect the possible complications found in newborns of women with bipolar or psychotic disorders and LAI therapy during pregnancy.
Methods:
This study involved women with psychotic disorders during pregnancy who contacted the Teratology Information Center of Bergamo, Italy between 2016 and 2021 to receive counseling on the possible risks of exposure to LAI therapy. The follow-up procedure was carried out by telephone interview or direct contact with the patient and/or her physician.
Results:
In this study, LAI treatment in pregnancy was not associated with an increased risk of malformations. All but one of the children in the sample were born healthy and the mothers maintained psychopathological compensation during pregnancy.
Conclusions:
This study showed that, despite the small size of the sample under examination, the administration of LAIs do not compromise the normal intrauterine development of the unborn child and there were no evident major malformations.
... Therapeutic interventions have included pericardiocentesis and intrauterine transfusion of packed red cells and platelets. Red cell transfusion might be useful for fetal anaemia but may risk hyperviscosity or hyperleucocytosis (Malin et al, 2010;Sukur et al, 2011;Tamblyn et al, 2016). ...
... NIHF has been described in association with other aneuploidies, including trisomies 13 and 18, and triploidy. [24][25][26][27] In some cases, hydrops occurs due to cardiovascular malformations in aneuploid fetuses. NIHF has also been reported in trisomy 21 in the absence of structural heart defects. ...
... NIHF has also been reported in trisomy 21 in the absence of structural heart defects. 24,25,27,28 Some such cases occur due to a transient abnormal myelopoiesis, a leukemic condition that occurs in about 10% of infants with Down syndrome. 25,27 Postnatally, transient abnormal myelopoiesis is often mild and self-limiting; prenatally, it is less common but typically more severe. ...
Nonimmune hydrops is the presence of ≥2 abnormal fetal fluid collections in the absence of red cell alloimmunization. The most common etiologies include cardiovascular, chromosomal, and hematologic abnormalities, followed by structural fetal anomalies, complications of twinning, infection, and placental abnormalities. We sought to provide evidence-based guidelines for the evaluation and management of nonimmune hydrops fetalis.
A systematic literature review was performed using MEDLINE, PubMed, EMBASE, and Cochrane Library. The search was restricted to English-language articles published from 1966 through June 2014. Priority was given to articles reporting original research, although review articles and commentaries also were consulted. Abstracts of research presented at symposia and scientific conferences were not considered adequate for inclusion in this document. Evidence reports and guidelines published by organizations or institutions such as the National Institutes of Health, Agency for Health Research and Quality, American Congress of Obstetricians and Gynecologists, and Society for Maternal-Fetal Medicine were also reviewed, and additional studies were located by reviewing bibliographies of identified articles. Grading of Recommendations Assessment, Development, and Evaluation methodology was employed for defining strength of recommendations and rating quality of evidence. Consistent with US Preventive Task Force guidelines, references were evaluated for quality based on the highest level of evidence.
Evaluation of hydrops begins with an antibody screen (indirect Coombs test) to verify that it is nonimmune, detailed sonography of the fetus(es) and placenta, including echocardiography and assessment for fetal arrhythmia, and middle cerebral artery Doppler evaluation for anemia, as well as fetal karyotype and/or chromosomal microarray analysis, regardless of whether a structural fetal anomaly is identified. Recommended treatment depends on the underlying etiology and gestational age; preterm delivery is recommended only for obstetric indications including development of mirror syndrome. Candidates for corticosteroids and antepartum surveillance include those with an idiopathic etiology, an etiology amenable to prenatal or postnatal treatment, and those in whom intervention is planned if fetal deterioration occurs. Such pregnancies should be delivered at a facility with the capability to stabilize and treat critically ill newborns. The prognosis depends on etiology, response to therapy if treatable, and the gestational age at detection and delivery. Aneuploidy confers a poor prognosis, and even in the absence of aneuploidy, neonatal survival is often <50%. Mirror syndrome is a form of severe preeclampsia that may develop in association with fetal hydrops and in most cases necessitates delivery.
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Associations among Down syndrome (DS), Dandy-Walker variant (DWv), pulmonary hypertension (PH) and childhood interstitial lung disease (chILD) are extremely rare. Several cases of trisomy disorders with Dandy-Walker malformation (DWM) and neurodevelopmental outcomes have been reported. The extent to which moderate to severe pulmonary hypertension with complications of patent ductus arteriosus (PDA), PH and chILD leads to substantial morbidity and mortality in infants with DS and DWM should be studied. We report the case of an ex-premature 15-month-old girl with confirmed DS with DWv, who developed PH and chILD. This is the first case study reporting the complexity of multiple associations involving DS and DWv. This case led to a prognostic dilemma and required compassionate parental counselling because of the child's uncertain future.
To systematically review current evidence regarding prenatal diagnosis and management of transient abnormal myelopoiesis (TAM) in fetuses with trisomy 21. A novel case of GATA1-positive TAM, in which following serial in utero blood transfusion clinical improvement and postnatal remission were observed, is included.
A systematic search of electronic databases (inception to October 2014) and reference lists, hand-searching of journals and expert contact. All confirmed cases of prenatal TAM were included for analysis. Data on study characteristics, design and quality were obtained.
Of 73 potentially relevant citations identified, 22 studies were included, describing 39 fetuses. All studies included comprised single case or small cohort studies; overall quality was 'very low'. Fetal/neonatal outcome was poor; 12 stillbirths (30.8%), 4 neonatal deaths (10.2%) and 7 infant deaths (17.9%). In two cases, the pregnancy was terminated (5.1%). TAM was primarily detected in the third trimester (79.4%), and in 14 a retrospective diagnosis was made postpartum. Ultrasound features indicative of TAM included hepatomegaly±splenomegaly (79.5%), hydrops fetalis (30.8%), pericardial effusion (23.1%) and aberrant liquor volume (15.4%). When performed, liver function tests were abnormal in 91.6% of cases.
Prenatal TAM presents a challenging diagnosis, and prognosis is poor, with consistently high mortality. A low threshold to measure haematological and biochemical markers is advised when clinical features typical of TAM are detected in the context of trisomy 21. Larger prospective studies are warranted to accurately ascertain the role of GATA1 analysis and potential value of prenatal therapy.
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Abstract Objective: To describe the presenting signs, diagnostic findings, and outcomes of 64 cases of non-immune hydrops fetalis (NIHF) cases seen in Women's Hospital, Qatar during the years 2003-2011. Method: A retrospective chart review of patients with signs suggesting of NIHF was done. A detailed scan was performed and karyotyping and detailed investigations were offered. Results: Average maternal age at diagnosis was 31 years. Fifty six percent of the patients were diagnosed during the 2nd trimester. Most common presenting signs were: ascites, pleural effusion, scalp edema, skin edema, pericardial effusion, generalize edema and cystic hygroma. Two patients were positive for PV B19 infection. Fetal karyotyping performed in 78% of the patients showed abnormal chromosomes in 9 cases. Three patients showed fetal anemia with abnormal peak systolic velocity of the medial cerebral artery (MCA-PSV). Seventeen (27%) fetuses survived the perinatal period with live births occurring between gestational ages 30-41 weeks. Ten (59%) of the 17 babies survived post delivery (6 months post survival data). Major identifiable abnormalities that might have caused symptoms of hydrops were cardiac (23.43%), and chromosomal (14%). Conclusion: Non-immune hydrops fetalis is a complex problem. Establishment of a clear procedure for the follow up of such patients is extremely important.
