Middle East Fertility Society Journal (2012) 17, 134–135
Middle East Fertility Society
Middle East Fertility Society Journal www.mefsjournal.org www.sciencedirect.com
CASE REPORT
Hydrops fetalis with cystic hygroma: A case report Mohammed Khairy Ali *, Ahmed Y. Abdelbadee 1, Sherif A. Shazly 2, Essam R. Othman 3 Woman’s Health Center, Assiut University, Assiut 71111, Egypt Received 3 November 2011; accepted 12 January 2012 Available online 28 March 2012
KEYWORDS Hydrops fetalis; Cystic hygromas; Aneuploidy
Abstract Hydrops fetalis is an excess accumulation of fluid in the fetus. Depending on the severity and cause of hydrops, there may be edema of fetus and placenta, ascites, pleural effusions and/or pericardial effusions. In previous years, most cases of hydrops were caused by severe erythroblastosis fetalis secondary to Rh isoimmunization. Most cases of hydrops fetalis are now caused by other conditions and are known as nonimmune hydrops. Here is a case of an 18 week pregnancy with hydrops fetalis, cystic hygroma and other structural anomalies suggestive chromosomal abnormalities. Ó 2012 Middle East Fertility Society. Production and hosting by Elsevier B.V. All rights reserved.
1. Introduction
* Corresponding author. Tel.: +20 8824621, mobile: +20 1005537951. E-mail addresses:
[email protected] (M.K. Ali), aboye
[email protected] (A.Y. Abdelbadee),
[email protected] (S.A. Shazly),
[email protected] (E.R. Othman), essamrash@ya hoo.com (E.R. Othman. 1 Tel.: +20 8824621, mobile: +20 1001990732. 2 Tel.: +20 8824621, mobile: +20 1007543863. 3 Tel.: +20 8824621, mobile: +20 1006607801. 1110-5690 Ó 2012 Middle East Fertility Society. Production and hosting by Elsevier B.V. All rights reserved. Peer review under responsibility of Middle East Fertility Society. doi:10.1016/j.mefs.2012.01.001
Production and hosting by Elsevier
Hydrops fetalis is the Latin word for edema of the fetus. Ballantyne first described hydrops fetalis in 1892, although this condition had been recognized for almost 200 years (1). The hallmark of the disease is the abnormal accumulation of fluid in body cavities pleural, pericardial and peritoneal and soft tissues with a wall thickness of greater than 5 mm. In addition, hydrops fetalis is associated with polyhydramnios and a thickened placenta (>6 cm) in as many as 30– 75% of patients. Many affected fetuses also have hepatosplenomegaly (2). The basic problem in hydrops fetalis is an imbalance in fluid homeostasis, with more fluid accumulating than can be resorbed. This imbalance can result from two broad categories of pathologies, namely, those of an immune origin and those of a nonimmune origin (3). Cystic hygroma is a thin-walled, multiseptate cystic structure posterior to the fetal head and neck eccentrically situated with respect to the long axis of the fetus without vertebral column defect was diagnostic of hygroma (4,5).
Hydrops fetalis with cystic hygroma: A case report 2. Case history A 32 year old woman, Gravida 5 Para 4, has only three living children, not known to be diabetic, positive Rh, the husband is her cousin; had a baby with anencephaly in the last pregnancy. Now she is pregnant 18 weeks, presented to the Women Health Hospital at Assiut University for antenatal care due to past history of malformed baby. Gestational age was determined by biparietal diameter and it was corresponding with the menstrual history. A careful sonographic search for congenital anomalies was done and the findings were as follows: cystic hygroma, massive skin edema, pleural effusion with collapsed lungs, ascites, echogenic bowel and echogenic cardiac focus.
3. Discussion Hydrops fetalis refers to fluid accumulation in serous cavities and/or edema of soft tissues in the fetus. It is characterized as nonimmune if there is no indication of a fetomaternal blood group incompatibility (6). The incidence is approximately 1 in 2500 to 1 in 3500 neonates. One possible cause of hydrops is cystic hygromas. Cystic hygroma is one of the most common abnormalities seen sonographically in the first trimester. They are characterized by single or multiple congenital cysts of the lymphatic system most commonly found within the soft tissues of the neck (7). They are highly associated with chromosomal abnormalities. In fetuses with cystic hygroma in the first trimester, trisomies 21, 18, and 13 were most prevalent. In the second trimester, Turner’s syndrome is most prevalent. Cystic hygromas seen in the first trimester may vary in size. Soft tissue
135 thickening may also be present and should be considered as nuchal thickening. Almost all fetuses with cystic hygroma and hydrops die antenatally (8). Cystic hygromas without hydrops usually regress completely (9). Genetic counseling and further sonographic monitoring every 3–4 weeks are required with these findings. In conclusion, this case report has highlighted the association between cystic hygroma and hydrops fetalis and need for genetic evaluation of the fetus and parents to establish or exclude aneuploidy. References (1) Abrams ME et al. Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death. Pediatrics 2007;120(1):84–9. (2) Has R. Non-immune hydrops fetalis in the first trimester: a review of 30 cases. Clin Exp Obstet Gynecol 2001;28(3):187–90. (3) Randenberg AL. Nonimmune hydrops fetalis part II: does etiology influence mortality? Neonatal Netw 2010;29(6):367–80. (4) Byrne J et al. The significance of cystic hygroma in fetuses. Hum Pathol 1984;15(1):61–7. (5) Sohan K et al. Analysis of outcome in hydrops fetalis in relation to gestational age at diagnosis, cause and treatment. Acta Obstet Gynecol Scand 2001;80(8):726–30. (6) Bijma HH et al. Ultrasound diagnosis of fetal anomalies: an analysis of perinatal management of 318 consecutive pregnancies in a multidisciplinary setting. Prenat Diagn 2004;24(11):890–5. (7) Smith DW et al. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. J Pediatr 1960;57:338–45. (8) Kiyota A, Tsukimori K, Yumoto Y, Hojo S, Morokuma S, Fukushima K, et al.. Spontaneous resolution of cystic hygroma and hydrops in a fetus with Noonan’s syndrome. Fetal Diagn Ther 2009;24(4):499–502. (9) Beke A, Joo´ JG, Csaba A, La´za´r L, Ba´n Z, Papp C, et al.. Incidence of chromosomal abnormalities in the presence of fetal subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Fetal Diagn Ther 2009;25(1):83–92.
