Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with characteristic features, such as overgrowth, macroglossia, and exomphalos. Hypomethylation of the KCNQ1OT1:TSS-differentially methylated region (DMR) on the 11p15.5 imprinted region is the most common etiology of BWS. KCNQ1 on 11p15.5 is expressed from the maternally inherited allele in most tissues, but is biparentally expressed in the heart, and maternal KCNQ1 transcription is required to establish the maternal DNA imprint in the KCNQ1OT1:TSS-DMR. Loss of function variants in KCNQ1 result in long QT syndrome type 1 (LQT1). To date, eight patients with BWS due to KCNQ1 splice variants or structural abnormalities involving KCNQ1 but not the KCNQ1OT1:TSS-DMR have been reported (KCNQ1-BWS), and four of them had LQT1. We report a Japanese boy with BWS and LQT1 presenting with extreme hypomethylation of the KCNQ1OT1:TSS-DMR caused by a de novo 215-kb deletion including KCNQ1 but not the KCNQ1OT1:TSS-DMR on the maternal allele. He was born by emergency cesarean section due to suspicion of placental abruption at 30 weeks of gestation. His birth weight and length were +1.6 SD and +1.0 SD, respectively. His placental weight was +3.9 SD, and histological examination of his placenta was consistent with mesenchymal dysplasia. He had BWS clinical features, including macroglossia, ear creases and pits, body asymmetry, and rectus abdominis muscle dehiscence, and BWS was therefore diagnosed. LQT1 was first noticed at three months in a preoperative examination for lingual frenectomy. The summarized data of our patient and the previously reported eight patients in KCNQ1-BWS showed more frequent and earlier preterm births and smaller sized birth weight in KCNQ1-BWS cases than those with BWS caused by epimutation of the KCNQ1OT1:TSS-DMR. In addition, in five of nine patients with KCNQ1-BWS, LQT1 was detected, and two of them were identified at school age. In our patient and in another single case with LQT1, the LQT1 was not detected early despite neonatal ECG monitoring. For BWS patients with extreme hypomethylation of the KCNQ1OT1:TSS-DMR, searching for CNVs involving KCNQ1 and mutation screening for KCNQ1 should be considered together with periodic ECG monitoring. (338/500 words).

Intrauterine fetoscopic closure of myelomeningocele: Clinical case and literature review.

OBJECTIVE: Spina bifida (SB) is a congenital birth defect defined as a failure of the neural tube formation during the embryonic development phase. Fetoscopic repair of SB is a novel treatment technique that allows to close spinal defect early and prevent potential neurological and psychomotor complications. CASE REPORT: We present a case report of a 32-year-old-multigravida whose fetus was diagnosed with lumbosacral myelomeningocele at 23rd week. Fetoscopic closure of MMC was performed at 26 weeks. At 32 weeks, due to premature amniorrhexis and placental abruption, an emergency C-section was performed. Newborn's psychomotor development was within normal limits. CONCLUSION: Although intrauterine treatment has an increased risk of premature labor, placental abruption, prenatal closure is associated with improved postnatal psychomotor development. Prenatal surgery decreases the risk of Arnold-Chiari II malformation development and walking disability. Fetoscopic closure of SB is becoming a choice for treatment with beneficial outcomes for mother and fetus.

A "miracle" pregnancy outcome of severe placental abruption.

Severe placental abruption is associated with high maternal and perinatal morbidity and mortality. Prompt delivery is usually mandatory in this situation. We report a case of a 33-year-old woman, gravida 5, para 3 + 1, at 26 weeks + 3 days' gestation who had severe placental abruption involving 40% of the placental surface complicated with maternal moderate anaemia and thrombocytopenia. In view of the extreme foetal prematurity and stable condition of both mother and foetus, expectant management was undertaken. The pregnancy was further complicated by foetal growth restriction detected 2 weeks later. At 30 weeks of gestation, an emergency caesarean section was performed for foetal distress. The surgery was uneventful and she delivered a live baby with good Apgar scores. This case report illustrates an atypically satisfactory pregnancy outcome of severe placental abruption. Conservative management of severe placental abruption is possible in rare cases, taking into consideration the gestational week as well as the maternal haemodynamic condition and foetal well-being. When severe placental abruption is confounded by severe prematurity, a decision on whether to prolong the pregnancy to improve the perinatal outcome and neonatal survival needs to be carefully weighed against the usual management option of immediate delivery.

Abruptio Placentae with Type II Respiratory Failure Secondary to Acute Interstitial Pneumonia Responsive to Steroids.

Acute Interstitial Pneumonia (AIP) is categorized as Idiopathic Interstitial Pneumonia (IIP), in which the cause is unknown. Ayoung female of 22 years presented in 34 weeks gestation with abruptio placentae (AP) and underwent Lower Segment Caesarian Section (LSCS) for AP. It progressed to type II respiratory failure secondary to AIPon 4th day post-surgery. It remained unresponsive when treated with noninvasive ventilation (NIV-BiPAP) along with antibiotics. Later, a trial treatment of pulse therapy of Methylprednisolone was executed on 7th day post-surgery which resulted in dramatic improvement in symptoms. It is uncommon to have type II respiratory failure secondary to AIP, and it is rarely steroid responsive.

A cross-sectional study of indications for cesarean deliveries in Médecins Sans Frontières facilities across 17 countries.

OBJECTIVE: To review the major indications for cesareans performed by Médecins Sans Frontières (MSF) personnel from the Operational Center Brussels. METHODS: A retrospective study was undertaken of all singleton cesarean deliveries from 2008-2012 for which indications were recorded. Location of project, age of patient, type of anesthesia, and duration of operation were also recorded. RESULTS: A total of 14 151 singleton cesarean deliveries were identified from 17 countries. Among the 15 905 indications recorded, the most common was failure to progress or cephalopelvic disproportion (4822 [30.3%]), followed by previous uterine scar (2504 [15.7%]), non-reassuring fetal status (2306 [14.5%]), and fetal malpresentation (1746 [11.0%]). Other indications were placenta or vasa previa (794 [5.0%]), uterine rupture (676 [4.3%]), hypertensive disorders (659 [4.1%]), placental abruption (520 [3.3%]), pre-rupture (450 [2.8%]), and cord prolapse (365 [2.3%]). CONCLUSION: Indications for cesareans in MSF settings differ from those in higher-income countries. Further investigation is needed for adequate emergency obstetric care coverage.

Indicações de cesariana baseadas em evidências: parte II: [revisão] / Evidence-based cesarean section indications: part II: [review]

A alta incidência de cesarianas desnecessárias é motivo de preocupação mundial. Estudos demonstraram que os benefícios conferidos ao feto pela cesariana são pequenos. Além de o procedimento se associar a maiores taxas de mortalidade materna, aproximadamente quatro a cinco vezes maiores que o parto vaginal, está também associado ao aumento da morbidade e mortalidade perinatal. Assim, a decisão para realização de uma cesariana deve ser criteriosa e discutida com a paciente. Realizou-se uma revisão da literatura em busca das melhores evidências disponíveis sobre indicações de cesariana. Foram abordadas algumas indicações, como placenta prévia, descolamento prematuro de placenta, vasa prévia, placenta acreta, infecção por HIV, herpes genital, hepatites e por HPV, condiloma genital, gestação múltipla, prolapso do cordão umbilical, distensão segmentar e ruptura uterina. Observou-se que a cesariana está formalmente indicada em algumas situações particulares, como na placenta prévia total. Em outros casos, pode haver indicação de cesárea intraparto, porém situações como HPV e gemelaridade não representam per se indicações de cesárea. Quando essas são relativas, tanto a mulher como seus familiares devem ser informados, e sua opinião deve ser considerada antes de se decidir pela realização da cesárea.

The increasing rate of unnecessary cesareans is a world preoccupation. Studies demonstrated that fetal benefits by cesarean are small, and the procedure is associated with higher rates of maternal death, 4-5-fold greater in relation with vaginal delivery, and increased perinatal morbidity and mortality. Indeed, the decision for a cesarean delivery should be rigorous and discussed with the patient. A literature review was performed searching the best current evidences evaluable. Indications for cesarean section were analyzed such as placenta praevia, abruptio placentae, vasa praevia, accretism, HIV infection, genital herpes, hepatitis, HPV and condiloma, multiple pregnancy, umbilical cord prolapse, distension and rupture uterine. In special circumstances like total placenta praevia an elective cesarean section is indicated. In other cases, an intrapartum cesarean section should be performed but situations like HPV and multiple pregnancy are not considered indications for cesarean per se. When relative indications for cesarean are present, both women and her family should be informed and their opinion considered when deciding for an operative delivery.

Liver transplantation for spontaneous intrapartum rupture of a hepatic adenoma.

BACKGROUND: Hepatocellular adenomas can rupture during pregnancy with high fetal and maternal associated mortality. CASE: A primipara underwent an emergency cesarean delivery at 37 weeks of gestation for abruptio placentae. A few hours later she developed hemorrhagic shock, and laparotomy revealed the rupture of the right lobe of the liver. Bleeding was controlled with perihepatic gauze packing and she was transferred to a transplant center for emergency orthotopic liver transplantation. Histologic examination revealed the presence of an intrahepatic hematoma caused by the rupture of a 12-cm hepatocellular adenoma. At 48 months after transplantation she and her infant were both in good condition. CONCLUSION: Emergency orthotopic liver transplantations performed for acute rupture of an hepatocellular adenoma represents a valid therapy provided that bleeding can be controlled long enough to locate a suitable donor.

Acute promyelocytic leukemia: an unusual cause showing prolonged disseminated intravascular coagulation after placental abruption.

BACKGROUND: Disseminated intravascular coagulation (DIC) caused by placental abruption usually improves rapidly after prompt delivery and adequate anti-DIC treatment. CASE: A 30-year-old nulliparous woman suffered from placental abruption at the 25th week of pregnancy, and emergent cesarean section was done immediately. She exhibited DIC, which continued even after termination of the pregnancy and anti-DIC treatment. She also showed neutropenia. We closely observed her, and at the 58th day postpartum, blast cells appeared in the peripheral blood and she was diagnosed with acute promyelocytic leukemia (APL). Induction chemotherapy was done successfully. The close observation after delivery enabled us to make the prompt diagnosis/treatment, leading to the complete remission. CONCLUSION: APL should be added to the list of differential diagnosis when DIC persists even after prompt delivery and appropriate anti-DIC treatment after placental abruption.

Postpartum hemolytic uremic syndrome in a 17-year-old Filipina primigravid.

A 17-year-old Filipina primigravid developed acute renal failure secondary to hemolytic uremic syndrome (HUS) after undergoing emergency cesarean section for severe pre-eclampsia and abruptio placenta. She underwent hemodialysis with concurrent infusions of fresh-frozen plasma and packed red cells for 5 weeks. Renal biopsy revealed findings consistent with HUS with glomerular crescents. She received three doses of pulse methylprednisolone followed by oral prednisone. Renal function improved 5 weeks after the onset of HUS. The pathogenesis, differential diagnosis, and treatment options of postpartum HUS are discussed.

Traumatic aortic rupture during pregnancy.

A 29-year-old woman, in her third trimester of pregnancy, underwent emergency Caesarian section for placental abruption following a road traffic accident. Following transfer, an abrupt change in the diameter of the aorta was noted on CT scan. Aortography confirmed aortic rupture distal to the left subclavian artery and Dacron graft replacement of this segment was carried out, utilizing a left atrial to descending aorta partial bypass through a centrifugal pump. The mother is alive and well at 4 months follow-up.

Massive obstetric haemorrhage.

Massive obstetric haemorrhage is a major cause of maternal death and morbidity; abruptio placentae, placenta praevia and postpartum haemorrhage being the main causes. A delay in the correction of hypovolaemia, a delay in the diagnosis and treatment of defective coagulation and a delay in the surgical control of bleeding are the avoidable factors in most maternal deaths caused by haemorrhage. The degree of hypotension is the first guide to the level of blood loss, except in abruptio placentae. A protocol incorporating the guidelines is shown. The rapid correction of hypovolaemia with crystalloids and red cells is the first priority, followed by blood component therapy as indicated by the haematocrit, coagulation tests, platelet count and clinical features. Serial monitoring of the response to treatment is essential. Oxytocin and prostaglandin will correct uterine atony, and appropriate surgical intervention is required for traumatic bleeding. Ligation of the uterine arteries, ovarian arteries and internal iliac arteries will usually control uterine bleeding, arterial embolization also being effective. Hysterectomy should be considered as well. Catastrophic bleeding may also arise in complications such as rupture of the liver and acute fatty liver of pregnancy. These rare complications are best managed by a multidisciplinary team involving the obstetrician, anaesthetist, haematologist, hepatologist and renal physician. The rupture of aneurysms in the splenic artery and in other branches of the aorta can result in massive haemorrhage during pregnancy and following delivery.

[Bilobar liver hematoma and spontaneous rupture after cesarean section]. / Bilobäres Leberhämatom und Spontanruptur nach Sectio caesarea.

A 25-year-old woman delivered a healthy baby in the 34th week of gestation by caesarean section due to placental abruption and fetal bradycardia. On the following day she developed dyspnea, tachycardia, hypotension and rising serum transaminase levels. After exclusion of a pulmonary embolism, the abdominal CT scan and cavography revealed a subcapsular hematoma of the entire dorsal liver surface and compression of the retrohepatic vena cava. During laparotomy a spontaneous rupture of the liver capsule with intraperitoneal hemorrhage was found. The dorsal liver was decapsulated and the subcapsular hematoma completely removed. The postoperative course was uneventful.

Spontaneous rectus sheath hematoma during pregnancy mimicking abruptio placenta.

Sudden disruption of a deep epigastric vessel may result in an abdominal wall hematoma, which, depending upon its location and size, can produce symptoms and clinical findings compatible with a variety of acute intra-abdominal conditions. The literature has noted a predominance of pregnant patients among those affected with this malady. Such hematomas are infrequently encountered and early accurate diagnosis could prevent surgical intervention. Unfortunately, the clinical manifestations of rectus muscle hematoma are sometimes so dramatic that laparotomy is performed under the belief that intra-abdominal pathology is present. We present a case of a suspected abruptio placenta misdiagnosed by clinical and ultrasound examination that was subsequently discovered to be a rectus sheath hematoma at the time of surgery.

Abruptio placentae. A "classic" dedicated to Elizabeth Ramsey.

The syndrome of abruptio placentae was originally described in 1997. Total hysterectomy was advocated by Couvelaire in 1991. The placenta is fixed to the uterine wall by anchoring villi. When spiral arteries lack the physiologic trophoblast invasion, like in case of maternal hypertension placental infarcts/abruption might occur. Infusion of thromboplastic material induces disseminated intravascular coagulation. The uterus "en bois" representing hypertonicity and polysystolia probably safe-guard the entrance of further thromboplastic material into the maternal circulation. Prompt restoration of the intravascular volume with full blood avoids hysterectomy. Preventive measures are avoidance of the supine position, cocaine and smoking. Treatment of hyperhomocysteinemia probably can prevent vascular damage.

Placental abruption in association with advanced abdominal pregnancy. A case report.

BACKGROUND: Recognition of advanced abdominal pregnancy and care of the patient afflicted with it may present formidable challenges. Aside from the difficulty of diagnosing the problem and thereby delaying necessary intervention, management can be difficult at best, even when the condition is relatively uncomplicated. When it is compounded by a life-threatening complication, such as uncontrollable hemorrhage, it challenges the skills of the most experienced obstetrician and the resources of the best-equipped facility and its personnel. CASE: Partial placental separation was encountered at surgery; it progressed intraoperatively despite the care taken to avoid disturbing the placental implantation site. Severe hemorrhage was controlled by a combination of aortic compression, packing and use of large "liver" sutures incorporating the uterine wall for tamponade of the principal placental implantation site, on the mesentery. CONCLUSION: It is important to be prepared to deal with the complication of intense intraabdominal bleeding in the course of intraoperative management of abdominal pregnancy.

Red cell, plasma and albumin transfusion decision triggers.

Hypothetical clinical cases were used to investigate transfusion-related decision-making. Three red cell, three fresh frozen plasma (FFP) and three albumin transfusion decision cases were administered by questionnaire to 228 medical staff. The transfusion decision triggers were identified and comparisons made between resident and specialist groups and between Melbourne and Sydney participants. Factors important in red cell transfusion decisions included haemoglobin, symptoms of anaemia, presence of co-morbidities or surgery, gender, period of hospitalisation and the degree of documented blood loss. FFP administration was influenced by an abnormal coagulation test, the presence of co-morbidities and by the number of red cell units transfused. The administration of albumin, concentrated or 5% SPPS, was influenced by the period of hospitalisation and clinical circumstances such as a falling urine output postoperatively, and by the presence of hypotensive complications. Different transfusion responses were noted: resident staff transfused red cells and FFP earlier than specialists; Sydney specialists were more conservative of red cell transfusion; Melbourne specialists more conservative of FFP administration and surgeons were four times more likely to transfuse patients than physicians or anesthetists at certain haemoglobin values.

[Clinical and morphological aspects of abruptio placentae with hemorrhagic shock]. / Osobennosti kliniki i morfologii pri prezhdevremennoi otsloike normal'no raspolozhennoi platsenty s gemorrhagicheskim shokom.

Seven histories of deliveries, complicated with abruptio placentae with hemorrhagic shock, and fetal autopsy protocols were examined, while the placentas and the uteri, removed at surgery were studied morphologically. Pregnancy had been complicated by gestosis in all patients. Placental abruption developed by 35-37 weeks of pregnancy in 5 patients, and near term in 2. All patients underwent urgent cesarean section followed by supravaginal amputation and extirpation of the uterus. Uterine, placental and fetal morphologic changes were qualified as shock-related. It is concluded that progressive abruptio placentae is an indication for abdominal delivery.