Down Syndrome and Non-Immune Hydrops Fetalis: A Case Report of a Surviving Premature Infant

Karaboğa, Bertan; Güneş, Sezgin; Bozgül, Arda; Soylar, Ramazan; Helvacı, Hüseyin; Orbatu, Dilek

doi:10.4274/jpr.08370

Cited by 1 publication

(2 citation statements)

References 7 publications

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“…The main underlying mechanisms of NIHF caused by chromosomal disorders are the obstruction or poor development of the lymphatic system, heart failure due to congenital heart diseases or increase in central venous pressure due to fetal hypotoniahypomotility, decreased chest wall movements and rarely hypoalbuminemia (2,4,6).…”

Section: Discussionmentioning

confidence: 99%

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Non-immune Hydrops Fetalis: Retrospective Evaluation of Pathophysiological Mechanisms

Ünal

Işık

Demirel

et al. 2017

GMJ

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Objective: Nonimmune hydrops fetalis (NIHF) is associated with abnormal fluid collections in fetal soft tissues and serous cavities due to nonimmunologic causes. It should be considered as a symptom, rather than a disorder. We aimed to investigate etiology and pathophysiology in cases with NIHF during a four-year time period. Methods: Eleven live-born infants with NIHF were evaluated retrospectively. Demographic data, laboratory values, and results of specified tests were recorded. Etiology and pathophysiological mechanisms were established. Results: The mean gestational age at birth was 32.8±2.6 weeks and the mean birth weight was 2545±809 grams. All cases presented with edema and ascites. Chromosomal disorders (5/11) were the leading etiology. Pathophysiological mechanisms were observed as fetal hypotonia, fetal hypoxia, lymphatic disorders, hypoalbuminemia, early closure of ductus arteriosus, anemia, and right-sided heart failure. Mortality was 72%. Conclusion: In the presented study NIHF occurred as a symptom which was presented in various conditions based on different mechanisms. Evaluations made in infants with NIHF should aim both diagnosis of the condition as well as finding out the underlying pathophysiological mechanisms. Mortality rate in infants with NIHF is high even though the improvements in neonatal care.

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Section: Discussionmentioning

confidence: 99%

“…In case 9, peripheral chromosomal analysis showed derivation anomaly in Chromosome 22 -partial trisomy 17 (Mos46,XY,add(22).ish der(22) t(17;22)(q21;p11) (subtel17q+) [6]/46,XY [94]). The derivative chromosome 22 (der 22) anomaly was previously reported to be associated with carcinoma of cervix and skin (8).…”

Section: Discussionmentioning

confidence: 99%