The outcomes and prognostic factors of fetal hydrothorax associated with trisomy 21.

OBJECTIVES: To determine the characteristics, outcomes, and prognostic factors of fetal hydrothorax (FHT) with trisomy 21. METHODS: A nationwide survey was conducted on FHT fetuses with trisomy 21 delivered after 22 weeks' gestation between January 2007 and December 2011 at perinatal centers. RESULTS: The 91 cases of FHT with trisomy 21 included 28 (30.8%) diagnosed in utero and 63 (69.2%) diagnosed after birth. The natural remission rate was 6.6% (6/91). Thoracoamniotic shunting was performed in 14.3% (13/91) of cases. The survival rates of the hydropic, nonhydropic, and total cases were 47.0% (31/66), 84.0% (21/25), and 57.1% (52/91), respectively. The crude odds ratio for death was 8.2 (p = 0.003) for fetuses diagnosed at 26-30 weeks of gestational age (vs ≥30 weeks), 5.9 (p = 0.003) for hydrops, 4.0 (p = 0.04) for bilateral pleural effusion, 0.68 (p = 0.42) for associated cardiovascular anomalies, and 2.1 (p = 0.26) for thoracoamniotic shunting (vs no fetal therapy). CONCLUSIONS: The prognosis of FHT with trisomy 21 was not very poor, but it was still worse than that of primary FHT. Hydrops, an early gestational age at the diagnosis and bilateral effusion, but not associated anomalies, were risk factors for death. Fetal therapy showed no survival benefit for FHT with trisomy 21. © 2017 John Wiley & Sons, Ltd.

The prognostic factors and outcomes of primary fetal hydrothorax with the effects of fetal intervention.

OBJECTIVES: This study aims to determine the prognostic factors and outcomes of primary fetal hydrothorax (FHT) and investigate the effects of fetal therapy. METHODS: A nationwide survey was conducted on fetuses with primary FHT delivered after 22 weeks of gestation between January 2007 and December 2011 at perinatal centers. RESULTS: Among the 287 cases of primary FHT, the survival rates for those with and without hydrops were 58.0% (113/195) and 97.8% (90/92), respectively. The survival rates in the no-therapy, thoracocentesis, and thoracoamniotic shunting (TAS) groups in the hydropic cases and the non-hydropic cases were 59.7% (40/67), 51.5% (35/68), and 63.3% (38/60) and 98.1% (53/54), 96.3% (26/27), and 100% (11/11), respectively. The crude relative risk for death was 2.1 (p = 0.005) for fetuses diagnosed at 26 to 30 weeks of gestational age (vs ≥30 weeks), 2.3 (p = 0.001) for both skin edema and ascites, and 3.1 (p = 0.02) for bilateral pleural effusion. TAS was associated with a significant risk reduction for death in hydropic cases [adjusted relative risk 0.61, p = 0.01 (vs no fetal therapy)]. CONCLUSIONS: Hydrops and an early gestational age at diagnosis (<30 weeks of gestation), skin edema with ascites, and bilateral effusion predicted a poor prognosis in primary FHT cases. TAS was associated with a higher survival rate. © 2016 John Wiley & Sons, Ltd.

Management of congenital diaphragmatic hernia with transposition of the great arteries.

Congenital diaphragmatic hernia (CDH) is a relatively rare malformation, but it has a high mortality rate. Its association with congenital heart disease lowers survival rate due to severe acidosis and desaturation caused by persistent pulmonary hypertension of the neonate. We describe herein a case of CDH with transposition of the great arteries and intact ventricular septum, in a patient who was prenatally diagnosed, managed with extracorporeal oxygenation (ECMO) support and successfully treated with both CDH repair and Jatene procedure, with no respiratory or circulatory sequelae. In conclusion, precise prenatal estimation is essential, and ECMO is a useful therapeutic option in these complex cases.

Rare fetal complications associated with placental mesenchymal dysplasia: a report of two cases.

Placental mesenchymal dysplasia (PMD) is a rare disease that may be difficult to distinguish from molar pregnancy. The disease is associated with major fetal complications, including Beckwith-Wiedemann syndrome, fetal growth restriction and intrauterine fetal death. Rarely, fetal hematological disorders and liver tumors also may occur. Two patients were referred to our hospital during their second trimesters because of suspected molar pregnancies. Fetal karyotyping and maternal serum human chorionic gonadotropin level determinations led to the PMD diagnoses. In one case, the maternal clinical course was normal, but the neonate suffered from disseminated intravascular coagulation and needed a platelet transfusion. In the second case, the PMD decreased during pregnancy, but a gradually increasing fetal liver tumor appeared. The tumor was diagnosed as mesenchymal hamartoma, based on ultrasound and magnetic resonance imaging studies. The neonate was delivered without cardiovascular compromise. Due to the difficulty of immediate surgical treatment, expectant management, with close follow-up, was chosen.

Successful management of cervico-isthmic pregnancy delivered at term.

A 29-year-old woman was diagnosed with a cervico-isthmic pregnancy based on ultrasound findings at 8 weeks of gestation. At 30 weeks of gestation, placenta previa was confirmed. During cesarean section at 37 weeks, the placenta did not spontaneously detach from the uterus; therefore, we decided to leave it in the uterus to avoid major hemorrhage. Blood loss was 775 mL and a healthy infant was delivered. After the operation, weekly methotrexate injection was initiated. Shortly after the eighth course of injection, massive vaginal bleeding suddenly occurred and bilateral uterine artery embolization was performed to control it. After the procedure, the retained placental tissue was removed and the patient was discharged with good general condition. Although a cervico-isthmic pregnancy constitutes a high-risk pregnancy, fertility-sparing management without a hysterectomy or blood transfusion was possible by not removing the placenta manually during the operation.

Doppler sonographic evaluation of arteriovenous shunt flow in a fetus with dural sinus malformation.

Dural sinus malformation (DSM) is a rare congenital malformation characterized by a dilated dural sinus pouch. We present a case of prenatally diagnosed DSM and propose a parameter to predict poor fetal outcome. Detailed ultrasonography at 26 weeks of our patient showed an intracranial cyst in the left posterior fossa. Color Doppler study indicated an arteriovenous shunt within the cyst with increased blood flow velocity. Based on these findings, fetal DSM with arteriovenous shunt was diagnosed. Because of fetal hydrops with high-output cardiac failure and maternal pregnancy-induced hypertension, labor was induced at 32 weeks and resulted in stillbirth. In conclusion, based on the present case, we can deduce that color Doppler study is useful for prenatal diagnosis of DSM with arteriovenous shunt and that a high-flow velocity to the cystic lesion is a possible predictor of hydropic change in such fetuses.

Cervical length predicts placental adherence and massive hemorrhage in placenta previa.

AIM: To evaluate the relationship between cervical length (CL) and obstetrical outcome in women with placenta previa. MATERIAL AND METHODS: Eighty uncomplicated, singleton pregnancies with an antenatally diagnosed previa were categorized based on CL of over 30mm (n=60) or 30mm or less (n=20). A retrospective chart review was then performed for these cases to investigate the relationship between CL and maternal adverse outcomes. RESULTS: The mean CL was 38.5±5.4mm and 26.9±3.2mm and the mean gestational age at measurement was 29.2±2.7 and 28.5±2.7weeks of gestation for the longer and shorter CL groups, respectively. The median estimated blood loss at cesarean section (CS) was significantly higher in the shorter CL group (1302mL vs 2139mL, P=0.023) as was the percentage of patients with massive intraoperative hemorrhage (60.0 vs 18.3%, P=0.001). In the shorter versus longer CL patients, emergent CS before 37weeks (23.3 vs 50.0%, P=0.046) and the percentage of patients with placental adherence (6.7 vs 35.0%, P=0.004) were both significantly more frequent in the shorter CL group. The shorter CL was a risk factor both for massive estimated blood loss (≥2000mL) (odds ratio 6.34, 95% confidence interval 1.91-21.02, P≤0.01) and placental adherence (odds ratio 6.26, 95% confidence interval 1.23-31.87, P≤0.05) in the multivariate analysis. CONCLUSION: CL should be included in the assessment of a placenta previa given its relationship to emergent CS, cesarean hysterectomy, intraoperative blood loss and placental adherence.

Measurement of the fetal isovolumetric contraction time in the fetus with a left ventricular aneurysm.

We present a case of an antenatally diagnosed congenital aneurysm of the left ventricle in which fetal cardiac contractility was evaluated by measuring the fetal isovolumetric contraction time (ICT). The workup of the fetus at 26 weeks' gestation led to the identification of a left ventricle aneurysm. Initially, the value of ICT of the left ventricle indicated adequate cardiac function. However, the fetal ICT was gradually prolonged, suspecting deteriorated cardiac contractility. Following an uncomplicated term delivery, a postnatal echocardiogram showed normal cardiac function. It is considered that because of the hypokinesis of the wall of the left ventricular aneurysm, the ICT did not fully predict cardiac function in this setting.

Grayscale and Doppler sonographic evaluation of response to in utero treatment of hydrops fetalis caused by extralobar pulmonary sequestration.

Pulmonary sequestration is defined as nonfunctional lung tissue that lacks communication with the bronchial tree and that is supplied by an anomalous systemic vessel. In comparatively rare cases, pulmonary sequestration may lead to hydrothorax or hydrops fetalis, which is nearly universally fatal. In this report, we describe a case of pulmonary sequestration with hydrops fetalis, which was successfully treated by thoracoamniotic shunting. A sonographic Doppler study in this case suggested that the underlying mechanism of the hydropic change in a fetus with extralobar pulmonary sequestration may have differed from that in fetuses with primary hydrothorax not associated with a structural anomaly.

Prognosis and long-term neurodevelopmental outcome in conservatively treated twin-to-twin transfusion syndrome.

BACKGROUND: Amnioreduction remains a treatment option for pregnancies with twin-to-twin transfusion syndrome (TTTS) not meeting criteria for laser surgery or those in which it is not feasible. Amnioreduction is a relatively simple treatment which does not require sophisticated technical equipment. Previous reports of conservative management have indicated that major neurodevelopmental impairment occurs in 14.3-26% of survivors. The purpose of this study was to investigate long-term neurodevelopmental outcome in conservatively treated TTTS. METHODS: During the nine-year study period from January 1996 to December 2004, all pregnancies with TTTS who were admitted to our center were investigated. TTTS was diagnosed by using standard prenatal ultrasound criteria, and staged according to the criteria of Quintero et al. We reviewed gestational age at diagnosis, gestational age at delivery, the stage of TTTS at diagnosis, and diagnosis to delivery interval. Neonatal cranial ultrasound findings were reviewed and the neurodevelopmental outcomes were evaluated. RESULTS: Twenty-one pregnancies with TTTS were included. Thirteen pregnancies (62%) were treated with serial amnioreduction. The mean gestational age at delivery was 28 weeks (22-34 weeks). The perinatal mortality rate was 42.9%. Twenty survivors were followed up until at least 3 years of age. The mean age at follow-up was 6.3 years (3-12 years). Six children (30%) had neurodevelopmental impairment. Four children (20%) had major neurodevelopmental impairment and two children (10%) had minor neurodevelopmental impairment. Children with neurodevelopmental impairment were delivered before 29 weeks of gestation. CONCLUSIONS: Our study showed a high rate of perinatal mortality and a high rate of major neurodevelopmental impairment in conservatively treated TTTS. The long-term outcomes for the survivors with TTTS were good when survivors were delivered after 29 weeks of gestation.

Stercoral perforation of the colon during pregnancy.

A 39-year-old Japanese woman was referred to our hospital for severe abdominal pain at 22 weeks and 2 days of gestation. Abdominal computed tomography (CT) suggested perforation of the gastrointestinal tract and emergency surgery was conducted. There was a fibrous adhesion between an enlarged uterus and the sigmoid colon. There was a 5.0-cm perforation near the adhesion in the posterior wall of the sigmoid colon. We performed a partial resection of the sigmoid colon and Hartmann's procedure with copious intraperitoneal lavage. Five hours following the laparotomy, uterine contractions could not be controlled and the patient delivered vaginally. The neonate died almost immediately after delivery. We conclude that although stercoral bowel perforation is rare, poor prognosis after perforation emphasizes the need to carry out a CT scan for patients who present with undiagnosed severe abdominal pain and compatible medical history, even if the patient is pregnant.

Congenital abdominal aortic aneurysm with porencephaly: a case report.

An abdominal aortic aneurysm is a rare disease in the paediatric population and is mainly caused by intrauterine infection, connective tissue diseases, such as Ehlers-Danlos syndrome and Marfan's syndrome, and iatrogenic trauma due to umbilical artery catheterization. Although several cases have been reported in the English literature, they were rarely diagnosed prenatally. Vascular obstruction in utero is also believed to be the major cause of porencephaly. Recently, gene mutations have been reported as the cause of both the above-mentioned diseases. We present a prenatally diagnosed case of congenital abdominal aortic aneurysm with porencephaly.

Cardiac hypertrophy of one fetus and selective growth restriction of the other fetus in a monochorionic twin pregnancy.

Cardiac hypertrophy in the recipient fetus of twin-twin transfusion syndrome (TTTS) has been reported previously. We encountered an unusual set of monochorionic twins in which one twin had cardiac hypertrophy without TTTS while the other fetus had selective growth restriction. In this case, the diagnosis of selective growth restriction was made at 17 weeks of gestation, and right ventricular hypertrophy was identified in the co-twin at 21 weeks; however, no signs of TTTS were observed. At 29 weeks we concluded that the fetal circulation had deteriorated based on echocardiographic findings that included hydrops fetalis and an elevated preload index. Emergency cesarean section was performed. Our experience suggests that hypertrophic cardiomyopathy-like change in a monochorionic twin pregnancy may arise in settings outside of TTTS, including growth restriction of a co-twin. We believe our case will assist the discussion surrounding the etiology of cardiac hypertrophy in monochorionic twins.

Ischemic ileal perforation in the donor of monochorionic twins complicated by twin-twin transfusion syndrome.

Twin-twin transfusion syndrome (TTTS) carries a significant risk of perinatal morbidity and mortality. Serial amnioreduction and fetoscopic laser photocoagulation have decreased perinatal mortality, thereby shifting attention towards short-term and long-term morbidity. Most morbidity occurs within the central nervous system. Ischemic lesions, however, such as congenital skin loss and limb necrosis may occur anywhere in the vasculature of recipient twins. Ischemia may also occur during serial amnioreduction and fetoscopic laser photocoagulation. We report a case of ileal perforation in the donor twin of untreated TTTS. Histopathology showed a focal area of erosion, possibly from ischemia. We also discuss the clinical features of ischemic intestinal complications of TTTS and review the literature.

Prenatal findings in a case of massive fetomaternal hemorrhage associated with intraplacental choriocarcinoma.

We describe biochemical assessment of maternal circulation in a case of massive fetomaternal hemorrhage at term associated with intraplacental choriocarcinoma. Markedly elevated maternal serum hCG level at 37 weeks of gestation suggested choriocarcinoma as a cause of fetomaternal hemorrhage in this case. Measurement of maternal hCG may be a useful parameter when intraplacental choriocarcinoma is in the differential diagnosis. In addition, the placenta should be examined in all cases of fetomaternal hemorrhage.

Prenatal three-dimensional images of proximal focal femoral deficiency produced by helical computed tomography.

INTRODUCTION: Proximal focal femoral deficiency (PFFD) is a rare skeletal disorder characterized by failure in development of the subtrochanteric region of the femoral shaft, with varying degrees of shortening of the proximal femur. OBJECTIVE: To investigate the potential of helical computed tomography as a prenatal diagnostic tool for bony abnormalities. CASE: A 37-year-old Japanese woman was referred to our hospital at 32 weeks of gestation for the evaluation of fetal growth restriction with short femurs. An ultrasound examination revealed the fetus to have short femurs bilaterally with normal echogenicity, and a normal facial profile. Assessment by 3D CT confirmed the absence of the femoral heads bilaterally and also revealed bilateral hip dislocations and oligodactyly of the right hand. The baby was delivered by cesarean section at 37 weeks of gestation, whereupon the diagnosis of PFFD was confirmed. CONCLUSION: Helical CT is a useful prenatal diagnostic alternative for bony abnormalities that is superior to the conventional sonographic approach.

Spontaneous resolution of cystic hygroma and hydrops in a fetus with Noonan's syndrome.

Many studies have shown that the prognosis of cystic hygroma associated with hydrops fetalis is poor. We report a rare case of fetal cystic hygroma and hydrops fetalis that spontaneously resolved with subsequent delivery at 37 weeks of a living female infant with Noonan's syndrome. The prognostic significance of prenatal resolution of cystic hygroma and hydrops is uncertain. Serial evaluation of affected fetuses with ultrasound imaging may help clarify pathogenesis of cystic hygroma with associated hydrops, as well as mechanisms underlying spontaneous resolution.

Max dD/Dt: A Novel Parameter to Assess Fetal Cardiac Contractility and a Substitute for Max dP/Dt.

Aortic pulse waveforms are composed of a forward wave from the heart and a reflection wave from the periphery. We focused on this forward wave and suggested a new parameter, the maximum slope of aortic pulse waveforms (max dD/dt), for fetal cardiac contractility. Max dD/dt was calculated from fetal aortic pulse waveforms recorded with an echo-tracking system. A normal range of max dD/dt was constructed in 105 healthy fetuses using linear regression analysis. Twenty-two fetuses with suspected fetal cardiac dysfunction were divided into normal and decreased max dD/dt groups, and their clinical parameters were compared. Max dD/dt of aortic pulse waveforms increased linearly with advancing gestational age (r = 0.93). The decreased max dD/dt was associated with abnormal cardiotocography findings and short- and long-term prognosis. In conclusion, max dD/dt calculated from the aortic pulse waveforms in fetuses can substitute for max dP/dt, an index of cardiac contractility in adults.

Changes in aortic distension waveforms in acute hypoxemia and acidosis: fetal lamb study.

The objective was to investigate the relationship between fetal aortic distension waveforms and fetal hypoxemia and/or acidosis. Aortic distension waveforms were recorded using an echo-tracking system in nine late-gestation catheterized fetal lambs. Under hypoxic conditions induced by inhalation of gas mixture, fetal blood pressure and aortic distension waveforms were recorded. Four parameters, namely peak systolic and end diastolic diameter, amplitude (DeltaD) and ratio of DeltaD to end diastolic diameter (%DeltaD), were obtained, and correlations between these parameters and partial arterial oxygen tension (PaO(2)) and pH of fetal blood gas were analyzed. These four parameters were compared between the control, hypoxemic and asphyxic groups. The DeltaD and %DeltaD were significantly correlated with PaO(2) and pH using linear regression analysis. Both the DeltaD and %DeltaD decreased significantly, in a stepwise fashion, in the hypoxemic and asphyxiated groups compared with controls using repeated measured analysis of variance. It was concluded that fetal aortic distension waveforms proved to be a useful tool to detect the deterioration in the fetal circulation secondary to intrauterine hypoxemia/asphyxia.

Noninvasive measurement of isovolumetric contraction time by Doppler cardiography can be substituted for fetal cardiac contractility: evaluation of a fetal lamb study.

OBJECTIVE: The objective of this study is to clarify whether the isovolumetric contraction time obtained from Doppler cardiography (Doppler ICT) can be an index substituted for fetal cardiac contractility. MATERIALS AND METHODS: In 10 pregnant ewes, fetal hypoxemia was induced by giving a variable mixture of gases. Through experiment, the Doppler ICT, pre-ejection period (PEP), and the maximum first derivative of the left ventricular pressure waveform (Max dp/dt) were simultaneously recorded every 10min. The relationship between both the Doppler ICT and PEP, and the Max dp/dt were analyzed. RESULTS: A significant negative linear regression was founded between the Doppler ICT and the Max dp/dt. A significant negative linear regression was also shown between PEP and the Max dp/dt. Moreover, the regression of Max dp/dt on ICT had significantly less residual variance than the regression of Max dp/dt on PEP (p=0.0004). CONCLUSION: In contrast to PEP, Doppler ICT is a reliable, and non-invasive index which can be substituted for fetal cardiac contractility.