Etiology and Outcome of Non-Immune Hydrops fetalis in Southern Thailand

Abstract

Objective: To study the etiology and outcome of non-immune hydrops fetalis in southern Thailand. Methods: The medical records and videotape recordings of all pregnant women diagnosed with non-immune fetal hydrops, from January 1993 to December 2002 were reviewed. Results: Non-immune hydrops fetalis was documented in 71 cases. The causes of fetal hydrops were identified in 87.3%. Homozygous α-thalassemia-1 dominated as the cause of non-immune fetal hydrops (28.2%), followed by structural abnormalities (15.5%) and infection (12.7%). The underlying etiology remained unknown in 9 cases (12.7%). The overall survival rate of non-immune hydrops fetalis cases was 4.2%. Spontaneous regression occurred in 2 cases. Two cases were lost to follow up after initial evaluation. Termination of pregnancy was performed in 47 cases. There were 12 dead fetuses in utero, 2 stillbirths, 5 early neonatal deaths and only 3 cases survived. Conclusions: Homozygous α-thalassemia-1 is the most common cause of non-immune hydrops fetalis in southern Thailand, and the overall prognosis of non-immune hydrops fetalis is poor. We suggest that an effective thalassemia-screening program for prevention and control of homozygous α-thalassemia-1 be established in all areas where the α-thalassemia-1 gene is prevalent.

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

“…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. Genetic hematological conditions like a-thalassemia, pyruvate kinase deficiency and glucose-6-phosphate dehydrogenase deficiency are also reported.…”

Clinical Manifestations of -Thalassemia

“…The severity of the disease is clearly influenced by the type of a-globin mutations. Nondeletional mutations and hyperunstable mutations increase the severity Lorey et al 2001b;Suwanrath-Kengpol et al 2005;Siriratmanawong et al 2007;Fucharoen and Viprakasit 2009;Hoppe 2009;Vichinsky 2009). When severe mutations are involved, hydrops fetalis can result from only three genes being affected.…”

“…These are very high-risk pregnancies, and those not receiving close monitoring have a high mortality rate. The majority of pregnancies are complicated by hypertension, preeclampsia, and several other serious complications (Liang et al 1985;Suwanrath-Kengpol et al 2005;Vichinsky 2009;Yang and Li 2009). …”

Alpha thalassemia major—new mutations, intrauterine management, and outcomes

“…1,5,16,17 Non-immune hydrops fetalis is most often caused by α-thalassemia in these regions. 5,18 In addition to China and Southeast Asia, Bart's hydrops fetalis is now being recognized in Greece, Turkey, Cyprus, India, Sardinia, and other parts of the world. 1,4,5,13,18 In the first 8 weeks of gestation, functional embryonic hemoglobin is responsible for oxygen delivery.…”

“…5,18 In addition to China and Southeast Asia, Bart's hydrops fetalis is now being recognized in Greece, Turkey, Cyprus, India, Sardinia, and other parts of the world. 1,4,5,13,18 In the first 8 weeks of gestation, functional embryonic hemoglobin is responsible for oxygen delivery. (These embryonic hemoglobins are Hemoglobin Gower 1, Hemoglobin Gower 2, and Hemoglobin Portland).…”