[Oesophageal Atresia - from the Challenge in Prenatal Medicine until Surgical Care]. / Die Ösophagusatresie ­ von der Herausforderung in der Pränatalmedizin bis zur chirurgischen Versorgung.

Oesophageal atresia causes a dysplasia of the oesophagus with or without a connection to the adjoining trachea. Prenatal ultrasound results are not specific enough to confirm a suspected diagnosis. In addition to polyhydramnios and a small or absent stomach, the so-called "pouch sign" reinforces the suspected diagnosis. An MRI increases the prenatal detection rate. Due to the lack of reliable sonografic markers, ultrasonic testing is advised during pregnancy. Particularly, further causes for the polyhydramnios should be categorically excluded. Postnatally, children present with classic symptoms. Surgical treatment results in a very high quality of life and a very good prognosis. Nevertheless lifelong monitoring and follow-up of the patient is required.

Congenital microtia in a neonate due to maternal isotretinoin exposure 1 month before pregnancy: Case Report.

Isotretinoin is a drug used for treating severe cystic/nodular acne. Severe malformations have been documented in neonates whose mothers had taken isotretinoin during pregnancy. Women who became pregnant one cycle after completing therapy are believed to be at teratogenic risk not higher than baseline. We describe the case of a newborn whose mother had taken the drug for 4 weeks. The woman then had contraception for 4 weeks (after the drug treatment had finished), and became pregnant after that period. The newborn had isolated bilateral microtia due to suspected isotretinoin exposure. His mother also had a history of urine tract infection in the second week of pregnancy that was treated with cephalexin. The parents were not from a consanguineous marriage and had no family history of congenital malformations. To reduce the risk, effective contraception should be continued in fertile women more than 1 month after completing therapy.

Amnioreduction in a singleton pregnancy: a systematic review.

The aim of this study was to investigate the risk of adverse events following amnioreduction in a singleton pregnancy. A systematic review was conducted. Literature was identified by searching two bibliographical databases between 1991 and 2011, without language restrictions. The data extracted and overall rates and confidence intervals for each adverse event were calculated. Four studies met the selection criteria for systematic review. The rate of symptom relief in one study was 100%. Because of the small numbers and wide confidence intervals, an exact quantification of risk of adverse events cannot be determined.

Combined approach in a large placental chorioangioma case with intratumoral alcohol injection, cordocentesis, IU transfusion, and amnioreduction.

Large placental chorioangiomas (LPCs) are rare complications of pregnancy and these tumors are associated with increased risk of pregnancy complications. We presented a LPC case at 25th week of gestation, complicated by polyhydramnios and preterm labor in which intratumoral alcohol injection was performed succesfully. Cordocentesis, fetal intrauterine transfusion, and amnioreduction were performed at the same session, as a combined approach. The safety of the procedure was shown by the lack of alcohol in the fetal cord blood sample. Intratumoral alcohol injection is a reliable and effective treatment modality in the management of LPCs and may be combined with other invasive procedures.

Fetal thoracoamniotic shunting for large macrocystic congenital cystic adenomatoid malformations of the lung.

OBJECTIVE: To evaluate fetal thoracoamniotic shunting for isolated large macrocystic congenital cystic adenomatoid malformations (CCAM) of the lung. METHODS: This was a retrospective study of 11 fetuses with macrocystic CCAM who underwent thoracoamniotic shunting. This procedure was offered if fetal hydrops or signs of evolving hydrops (such as ascites or polyhydramnios) were present, or when there were very large lesions or lesions rapidly increasing in size. If there were multiple large cysts within the lesion, a single shunt was used, aiming to traverse several cysts. RESULTS: Shunts were inserted at a mean gestational age of 24.6 (range, 17-32) weeks. Marked mediastinal shift was present in all cases. Six fetuses were hydropic and, of the remaining five, one had severe polyhydramnios, three had lesions that were rapidly increasing in size and one had a very large lesion at initial presentation. In total, four cases had polyhydramnios. Shunting one cyst always decompressed the entire lesion and hydrops and/or polyhydramnios resolved in all surviving fetuses. One hydropic fetus that underwent the procedure at 17 weeks died 1 day later. The shunt dislodged in one case and the lesion did not re-expand. No mother went into labor or had ruptured membranes before 35.6 weeks. Mean gestational age at delivery was 38.2 weeks (n = 10). All pregnancies were delivered vaginally, with no maternal complications. All newborns had uneventful lobectomies, and pathology confirmed CCAM in all cases. CONCLUSION: Fetal thoracoamniotic shunting for large macrocystic CCAM is associated with favorable outcome in most cases, and should be considered in severe cases even before hydrops develops.

Fetoscopic laser photocoagulation of feeding vessels to a large placental chorioangioma following fetal deterioration after amnioreduction.

Large placental chorioangiomas (>4 cm) can precipitate severe polyhydramnios, fetal anemia, growth restriction, high-output cardiac failure, hydrops, and fetal demise. We report a case of a large chorioangioma that was treated in a stepwise fashion with amnioreduction to ameliorate maternal discomfort, followed by fetoscopic laser ablation of the feeding vessels after rapid evolution of heart failure. Although amnioreduction was helpful in improving maternal symptoms, we suspect that the drop in intrauterine pressure from the amniotic fluid decompression may have resulted in increased tumor perfusion, thereby promoting fetal deterioration due to a 'steal' phenomenon. Close scrutiny of the fetal status via ultrasound is required, particularly if amnioreduction is necessary, and definitive treatment should be considered once early signs of heart failure develop. Fetoscopic laser ablation of the feeding vessels is a feasible definitive treatment of a large chorioangioma in cases in which perfusion of the tumor is via a superficial nonterminus umbilical artery. Future reports should describe the anatomy of the blood supply to the chorioangioma, in the hopes that further guidelines for surgical candidacy may be established.

Chorangioma and related vascular lesions of the placenta--a review.

Chorangioma has been referred to as a hamartoma-like, or a hyperplastic capillary lesion, rather than a true neoplasm. Its incidence is 1 in 100 placentas. In chorangiomas larger than 4 cm, there can be significant effects on the hemodynamic and circulatory processes of the fetus, leading to grave clinical consequences, such as polyhydramnios and fetal heart failure. Chorangiomas can show various histopathologic pictures, ranging from vascular to cellular, and can undergo degenerative changes. They can be diagnosed prenatally by ultrasound, color Doppler imaging, and magnetic resonance imaging (MRI). Chorangioma must be differentiated from other villous capillary lesions, namely, chorangiomatosis and chorangiosis. They have overlapping similarities with chorangioma, and have clinical implications. Chorangiomatosis has been associated with negative fetal outcomes such as intrauterine growth retardation (IUGR) and preeclampsia. Chorangiosis is associated with maternal diabetes mellitus. Another rarer differential is chorangioma with trophoblast proliferation ("chorangiocarcinoma," a probable misnomer), a rare proliferation of trophoblastic tissue seen in the vicinity of otherwise benign chorangioma. Treatment modalities of chorangioma include endoscopic devascularization, alcoholic ablation, and interstitial laser coagulation. In this article, we will review the clinical and pathologic picture of chorangioma as well as treatment, and discuss its main differentials.

[Management of umbilical cord prolapse and neonatal outcomes]. / Procidence du cordon: prise en charge obstétricale et conséquences néonatales.

OBJECTIVE: To evaluate the obstetrical management of umbilical cord prolapse and the neonatal outcomes. METHODS: Retrospective study of 57 prolapses of umbilical cord between 1998 and 2009. Arterial pH of umbilical cord, Apgar score and diagnosis delivery time (DDT) were analyzed. RESULTS: The incidence of the cord prolapse was of 1.25 for 1000 deliveries. Cord prolapse occurred with the artificial rupture of membranes in 24 cases (42%) out of 57. There were 48 caesarean births. There were three hydramnios and seven cases of twin pregnancy. The mean pH in the umbilical arteries was 7.15 ± 0.13 in 27 cases. The mean Apgar for the 57 newborns was 6 ± 3 at 1 min and 8 ± 3 at 5 min. The mean DDT was 18 ± 8 min (range: 3-44). In 17 cases out of 27, the mean arterial umbilical pH was 7.07 ± 0.09. Fifteen newborns (26%) had a 5-minute Apgar score less than 7 and were admitted in intensive care unit. The mean Apgar score in the nine vaginal deliveries was 8 ± 4 min. In case of cephalic presentations without associated foetal or maternal pathologies there was a tendency of a better pH when the DDT was shorter. In non-cephalic presentations (14 cases), the mean Apgar score was 8 ± 3 at 5 min. The mean pH measured in eight cases was 7.20 ± 0.13 with mean DDT of 20 minutes. CONCLUSION: The umbilical cord prolapse remains a serious event for the newborns. The reduction of the DDT in cephalic presentation seems to be correlated to a better neonatal state. The caesarean section is the preferential way of childbirth.

Diagnóstico y tratamiento perinatal del epignatus: Revisión sistemática / Perinatal diagnosis and management of epignathus

Introducción: A partir de un caso diagnosticado y tratado mediante EXIT en nuestro Centro, realizamos una revisión sistemática de la evolución del diagnóstico y tratamiento del epignatus. Material y métodos: Búsqueda bibliográfica en medline y la aportación de nuestro caso. Criterios: “oral teratoma” OR epignathus limitada por edad a neonatos y por idiomas a inglés, español, italiano y portugués (57 artículos) y sin restricciones (121 artículos), Se seleccionaron los artículos que incluyesen casos de teratomas de la cavidad orofaríngea, con su método diagnóstico y/o tratamiento, haciendo hincapié en los casos que provocasen polihidramnios y/o dificultad respiratoria al nacimiento por su tamaño o situación. Se descartaron los artículos anteriores a 1990.Resultados: Bajo el término epignatus se encuentran los teratomas que ocupan la luz del canal craneofaríngeo, provocando con frecuencia polihidramnios obstructivo. Son potencialmente letales al poder provocar obstrucción de la vía aérea tras el parto. Por su tamaño pueden comprometer la función cardiaca. Rara vez se asocian a otras patologías graves. El diagnóstico prenatal y la planificación del tratamiento (..) (AU)

Introduction: After the diagnosis and treatment by EXIT procedure of a case of epignathus in our centre, we have reviewed the management of this condition. Material and methods: Systematic review of the bibliography in Medline and our case experience. Search terms: “oral teraoma” ORE pignathus; Limits for age (Newborn) and languages (English, Spanish, Italian and portugese) (57 articles) and without limits (121). We select articles cases reports about oropharyngeal teratomas including diagnosis and/or treatment, specially those with polyhidramnios and/orrespiratoy distress at birth. Articles before 1990 were refused. Results: Epignathus is defined as a teratoma that occupies the lumen of the craniopharyngeal canal causing an obstructive polyhydramnios. This is a potential cause of death due to upper airway obstruction at (..) (AU)

Twin-twin transfusion syndrome.

Twin-twin transfusion syndrome (TTTS) is a condition unique to monochorionic pregnancies, although very few case reports described the syndrome in dichorionic placentas. The aetiology of TTTS relies in the presence of at least 1 arterio-venous placental anastomosis, through which unequal blood exchange from one twin (donor) to the co-twin (recipient) occurs. The diagnosis of TTTS relies on the sonographic detection of oligohydramnios in the donor's sac and polyhydramnios in the recipient's sac in the second trimester, although signs of TTTS are present since the first trimester. Treatment options for TTTS include serial amnioreduction, septostomy, selective feticide of the apparently sick twin, and selective photocoagulation of placental vessels (SLPCV). Because of the growing evidence that SLPCV is the most efficacious therapy compared to amnioreduction with/without septostomy, the authors reviewed in details the effects of SLPCV on fetal growth and circulation. The authors further explore literature with regard to the prognostic factors. Finally, because Quintero staging system is actually under debate, they discuss the most recent findings on this topic and propose a new staging system to assess severity of TTTS at presentation (Rossi staging system). New topics for future research, which would probably further clarify the natural history of TTTS, are also proposed.

Two cases of reversal of twin-twin transfusion syndrome diagnosed by measuring hourly fetal urine production.

Reversal of twin-twin transfusion syndrome (TTTS) is a rare complication of monochorionic pregnancy. Diagnostic criteria and satisfactory therapeutic options have not been reported. We make a suggestion of diagnosis and therapy for reversal of TTTS. We report two cases of reversal of TTTS. Measurement of the fetal urine production rate was useful for management and better comprehension of the cases. In case 1, double intrauterine fetal demise occurred before the criteria for TTTS were fulfilled, in which each fetal urine production rate reversed prior to the change of amniotic fluid volume. In case 2, elevated urine production was noted prior to progressive polyhydroamnios and congestive heart failure in the new recipient and the fetoscopic laser photocoagulation of the placental communicating vessels was performed successfully before the criteria for TTTS were fulfilled. Both infants required intensive care, but developed normally and showed no neurologic complications at 2 years after birth. Hourly fetal urine production rate was useful for immediate diagnosis of reversal of TTTS, and laser photocoagulation of the placental communicating vessels is thus a method for the correction of the fetal blood flow imbalance in cases of reversal of the donor-recipient phenotype in TTTS.

[Twin-to-twin transfusion syndrome: diagnosis and treatment]. / Syndrome transfuseur-transfusé: physiopathologie, diagnostic et traitement chirurgical.

Multiple pregnancies represent 2% of all pregnancies but account for 20% of admissions to neonatal intensive care units. The outcome of multiple pregnancies is mainly dependent on chorionicity. Most perinatal complications are 3 to 12 times more prevalent in monochorionic pregnancies. The increased mortality and morbidity in this setting are mainly related to vascular anastomoses on the chorionic plate, joining the two fetal circulations. Intrauterine death of a monochorionic twin leads to exsanguination of the survivor, with fatal outcome in 20 to 30% of cases and a similar rate of severe ischemic complications. The most severe and acute complication is the twin-to-twin transfusion syndrome (TTTS). The main clinical manifestations of TTTS are the polyuric polyhydramnios--oliguric oligohydramnios sequence in the recipient and donor twin, respectively. TTTS is associated with a perinatal mortality rate of around 90%, and neurological sequelae are present in 20-40% of survivors born at around 25 weeks. Serial amnioreduction was long the only fetal therapy for TTTS, improving the survival rate to around 50% for at least one twin delivered at around 28 weeks, and reducing the risk of sequelae to around 20% among survivors. We have developed an intrauterine fetoscopic surgical treatment for TTTS. A 2-mm endoscope and a diode laser fiber are introduced percutaneously, under local anesthesia, through a single 3-mm trocard Coagulation of feto-fetal anastomoses on the chorionic plate leads to the survival of at least one twin in around 80% of cases at 33 weeks. Fewer than 10% of survivors have sequelae, mainly related to prematurity. We conducted a randomized controlled trial that confirmed the superiority of laser therapy over amnioreduction. The long-term outlook of these infants is good, with up to 6 years of follow-up.

Treatment of twin reversed arterial perfusion sequence by septostomy and amniodrainage: a case report.

INTRODUCTION: An acardiac fetus is the most severe malformation seen in humans. It is an extremely rare complication, occurring in approximately 1% of all monozygotic twin gestations, with an incidence of about 1 in 35,000 births. This malformation happens as a result of the syndrome of reversed arterial perfusion of the acardiac twin from the other normal fetus (pump twin), due to the presence of arterio-arterial anastomoses in a monochorionic placenta. Several obstetric and perinatal complications have been associated to this anomaly and several treatments have been proposed to reduce the morbimortality of the pump twin. There's no report in MEDLINE about the treatment of twin gestations with acardiac fetus through septostomy. CASE REPORT: The present article reports a case of reversed arterial perfusion sequence complicated by polyhydramnios diagnosed at 19th week of pregnancy, treated with septostomy and serial amniodrainage. DISCUSSION: This case presented it demonstrate favorable development of the gestation, with labor happening at 35 weeks gestation and pump twin presenting good vitality conditions. In cases with no major factors of bad prognosis, septostomy combined with amniodrainage could be an interesting therapeutic option for a safe and efficacious management of selected cases of TRAP sequence.

Fetal pleuroamniotic shunting for bronchopulmonary sequestration with hydrops.

Bronchopulmonary sequestration (BPS), a non-functional pulmonary tissue mass, when complicated by fetal hydrops, carries a high risk of perinatal mortality. However, a limited number of cases of BPS complicated by fetal hydrops with an informative clinical course have been reported. We report here on three cases of BPS complicated by fetal hydrothorax and hydrops that were successfully treated by pleuroamniotic shunting, which should be considered as a treatment option for fetal hydrothorax and hydrops associated with BPS.

Maternal hemodynamic changes following treatment by laser coagulation of placental vascular anastomoses and amnioreduction in twin-to-twin transfusion syndrome.

OBJECTIVES: To investigate maternal hemodynamic changes following laser therapy and amnioreduction in twin-to-twin transfusion syndrome (TTTS). METHODS: Thirty-nine cases with severe TTTS were treated at 16-26 weeks of gestation. Maternal hemodynamic evaluation was performed, including heart rate (HR), arterial pressure and echocardiography with calculation of shortening fraction (SF), left atrial dimensions, stroke volume (SV), cardiac output (CO) and total vascular resistance (TVR), before and 6 h and 24 h after placental surgery. Hemoglobin (Hb), hematocrit (Ht) and protein levels were also measured. Cases were retrospectively divided into groups according to treatment: Group A had laser therapy followed by amnioreduction >1000 mL (n = 25); Group B had laser therapy followed by amnioreduction <1000 mL (n = 14). RESULTS: The mean gestational age at inclusion was 21 (range, 16-26) weeks. The mean amniotic fluid withdrawal was 1700 (range, 1000-3000) and 300 (range, 150-800) mL in Groups A and B, respectively. Cases in Group A showed a decrease in mean arterial blood pressure (P = 0.011) and in TVR (P < 0.0001) and an increase in CO (P = 0.008) and SV (P = 0.022). There was no difference in HR. Significant hemodilution developed as early as 6 h after the procedure, with a reduction in Ht (P < 0.0001), plasma protein (P < 0.0001) and Hb levels of 1.2 g/dL on average (P < 0.0001). There were no changes in any parameters in Group B. CONCLUSIONS: Amnioreduction of severe polyhydramnios in TTTS induces maternal hemodynamic changes within the first 6 h that persist at least 24 h after treatment. These adaptative changes are compatible with hemodilution.

Hypothesis: the placental 'steal' phenomenon - a possible hazard of amnioreduction.

The twin-twin transfusion syndrome (TTTS) complicates approximately 15% of monochorionic twin pregnancies. Severe TTTS is associated with poor neonatal outcome and a relatively high rate of neurological abnormalities. Some studies have suggested this outcome to be more severe in cases treated by amnioreduction. In this paper we present a hypothesis that radical amnioreduction performed after 24 weeks of gestation might cause a shift of blood from the fetus into the placenta. This could explain some of the severe neurological outcomes, such as hypoxic ischemic brain damage, seen in these cases.

Unexpected intrauterine death following resolution of hydrops fetalis after betamethasone treatment in a fetus with a large cystic adenomatoid malformation of the lung.

Without intervention, the development of hydrops fetalis secondary to cystic adenomatoid malformation of the lung (CAML) implies a 100% mortality rate. Conversely, four CAML cases with in-utero resolution of hydrops fetalis after prenatal betamethasone therapy with good clinical outcome have been reported in the literature. The mechanism is speculated to be the effect of corticosteroid in improving lung maturation. Here we present another CAML case with resolution of hydrops fetalis after prenatal betamethasone therapy but which was followed by later intrauterine death. We speculate that the resolution of the CAML lesion itself may be more important in determining the clinical outcome than the resolution of hydrops. The association between prenatal betamethasone therapy and resolution of hydrops may be related to a different mechanism other than improvement of lung maturation.

Jejunal atresia in an infant with triple-X syndrome.

A 33-year-old woman presented at 31 weeks' gestation with polyhydramnios that required repeated amniodrainage. An antenatal scan at 32 weeks showed dilated fetal bowel loops, which were not confirmed on subsequent scans. The amniotic fluid karyotype confirmed 47,XXX. After birth, jejunal obstruction was confirmed. To our knowledge, this is the first report of an association of triple-X syndrome and jejunal atresia.