Clinical findings. A-C. Fetal ultrasound findings at 24 +3 weeks of gestation. The fetus had significant generalized skin edema, cystic hygroma, bilateral pleural effusion, and large amounts of ascites. D. Time course of changes of the maternal blood test. The left axis represents the level of total protein (TP) and albumin (Alb) [mg/dL], and the right axis represents the level of hematocrit (Hct) [%], respectively. E. The results of the maternal blood test at 24 +3 weeks of gestation. WBC, white blood cell; Hb, hemoglobin; Hct, hematocrit; Plt, platelet count; TP, total protein; Alb, albumin; BUN, blood urea nitrogen; Cr, creatinine; UA, uric acid; AST, aspartate transaminase; ALT, alanine transaminase; LDH, lactate dehydrogenase; Na, sodium; Cl, chloride; K, potassium; BNP, brain natriuretic peptide. F. Maternal chest X-ray at 24 +3 weeks of gestation. The enlarged cardiothoracic ratio and pulmonary congestion were significant. G. Placenta The left panel shows a macroscopic view of the placenta, showing that the placenta is easily collapsed. The upper right panel is a magnified image of the placenta, showing that the placenta is hydropic. The lower right panel shows the ultrasound finding of thickened placenta with a transverse diameter of 66.5 mm at 24 +2 weeks of gestation. H. Appearance of newborns. The female neonate had marked edema. I. Pathological findings of the autopsy (×20). Photomicrograph revealed the cyst wall was composed of fibrous connective tissue coated with one layer of the endothelium (D2-40, a lymphatic endothelial marker, arrows).

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... arrows). hygroma, pleural effusion, and ascites at 16 weeks of gestation. Chromosome karyotype analysis showed a normal female karyotype (46, XX), and a fetal echocardiogram detected no anomaly. The cystic hygroma and hydrops worsened at 24 weeks of gestation, characterized by skin edema, bilateral pleural effusion, and large amounts of ascites ( Fig. 1A-C). The placenta was thickened with a transverse diameter of 6.7 cm (Fig. 1G). The mother also had edema and palpitations that gradually worsened after 22 weeks of gestation, while her blood pressure was within the normal range (122/80 mmHg at 24 +3 weeks of gestation). At 24 +3 weeks of gestation, hematocrit, total protein, and ...

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... karyotype analysis showed a normal female karyotype (46, XX), and a fetal echocardiogram detected no anomaly. The cystic hygroma and hydrops worsened at 24 weeks of gestation, characterized by skin edema, bilateral pleural effusion, and large amounts of ascites ( Fig. 1A-C). The placenta was thickened with a transverse diameter of 6.7 cm (Fig. 1G). The mother also had edema and palpitations that gradually worsened after 22 weeks of gestation, while her blood pressure was within the normal range (122/80 mmHg at 24 +3 weeks of gestation). At 24 +3 weeks of gestation, hematocrit, total protein, and albumin decreased to 22.2%, 4.5 g/dL, and 2.3 g/dL, respectively ( Fig. D-E). She ...

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... gestation, hematocrit, total protein, and albumin decreased to 22.2%, 4.5 g/dL, and 2.3 g/dL, respectively ( Fig. D-E). She had 1+ proteinuria on dipstick analysis. Chest X-ray was significant for the enlarged cardiothoracic ratio of 58.8% and pulmonary congestion with elevating serum brain natriuretic peptide (BNP) level of up to 102.3 pg/mL ( Fig. 1E-F). From these findings, we diagnosed her with mirror syndrome and determined that further continuation of her pregnancy would be dangerous for her. We discussed with her and her partner and decided to perform a Cesarean section at 24 +3 weeks of gestation due to her volume overload and oxygen ...

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... birth weight and height were 2356 g (>99th percentile) and 31.8 cm (73rd percentile), respectively. The umbilical artery blood pH was 7.40, and 1-and 5-min Apgar scores were 1 and 1, respectively. Neonatal resuscitation was immediately initiated; however, the baby died shortly after birth. The placenta was grossly hydropic and easily collapsed (Fig. 1G). The mother improved steadily after childbirth and was discharged without significant ...

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... autopsy of the newborn showed a large multifocal subcutaneous cyst with a diameter of >10 cm in the posterior neck. Her head and face were deformed by severe skin edema (Fig. 1H). The multifocal subcutaneous cyst contained approximately 70 mL of pale, bloody fluid, and the cyst wall was composed of fibrous connective tissue coated with one layer of endothelium. The endothelium was positive for D2-40 (arrows, Fig. 1I), suggesting fetal cystic lymphangioma. In the skin, dilation of lymphatic vessels was also ...

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... with a diameter of >10 cm in the posterior neck. Her head and face were deformed by severe skin edema (Fig. 1H). The multifocal subcutaneous cyst contained approximately 70 mL of pale, bloody fluid, and the cyst wall was composed of fibrous connective tissue coated with one layer of endothelium. The endothelium was positive for D2-40 (arrows, Fig. 1I), suggesting fetal cystic lymphangioma. In the skin, dilation of lymphatic vessels was also observed from the dermis to the subcutaneous tissue, suggesting lymphatic congestion. The pleural effusion and ascites were 150 mL in total. Right and left lungs were 6 and 4 g, respectively, suggesting severe pulmonary hypoplasia due to ...