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.

Utero-placental apoplexy during induction of therapeutic abortion in a 18-week pregnancy.

Utero-Placental Apoplexy, or Couvelaire Uterus, is a third-trimester major obstetrical complication, occurring especially during labor. It consists of placental abruption followed by an acute intradecidual hemorrhage produced by the rupture of the uterus-placental spiral arterioles leading to a retroplacental hematoma. This hemorrhage infiltrates the uterine wall up to intra- and retro-peritoneal areas. We provide a case report, on which no previous literature is available, of a utero-placental apoplexy during induction of therapeutic abortion.

Decision-delivery intervals: Impact of a colour code protocol for emergency caesareans.

OBJECTIVE: Assess the impact of implementation by simple distribution of a "colour code" protocol for emergency caesareans on the course over time of the "decision-delivery interval" (DDI) and neonatal outcome. DESIGN: Observational study in 26 maternity units of the AURORE perinatal network, conducted between October 1, 2017, and April 30, 2018. Each maternity ward́ was supposed to prospectively include 20 consecutive cases of caesareans performed either as an emergency, that is, as a code orange, or an extreme emergency, that is, code red. We compared the DDIs observed in 2017 to those in 2007 according to the degree of emergency, the maternity unit level of care, and their adherence to the protocol. Neonatal outcome in 2007 and 2017, assessed from laboratory and clinical indicators, was also compared, overall and according to the degree of emergency. RESULTS: The DDI was significantly lower in 2017 (n = 478) than in 2007 (n = 447), regardless of the degree of emergency and the level of care (p < 0.0001). In 2017, all code red caesareans were performed in less than 15 min in level 3 maternity units compared with 73 % (p = 0.039) in 2007. Fewer than 20 % of the caesareans in the 2007 study period were performed in less than 15 min in level 1 and 2 maternity units. Today, this is the case for 83 % of these caesareans in level 2 units (p < 0.001) and 36 % in level 1 (p = 0.01). In 2017, code orange caesareans were performed in less than 30 min in 96 % of cases in level 3 units, 67 % in level 2, and 33 % in level 1, compared respectively with 67 % (p = 0.015), 25 % (p < 0.0001) and 16 % (p = 0.0003) in 2007. We did not observe any difference in the neonatal outcome between 2007 and 2017 or as a function of the DDI expected based on the caesarean colour code. CONCLUSION: The implementation of the colour code protocols was associated with an improved DDI and better adherence to the recommendations in all 26 maternity units in this perinatal network.

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.

Placental abruption leading to hysterectomy.

A 32-year-old multigravid patient at 21 weeks gestation presents with major concealed placental abruption and subsequent fetal demise. During an eventually failed misoprostol regime aiming for vaginal delivery she develops severe disseminated intravascular coagulopathy. Subsequent hysterotomy reveals Couvelaire uterus with major haemorrhage and requires subtotal hysterectomy for haemostasis. This case highlights the severity of the systemic response to abruption and fetal demise in utero and the multifactorial nature of its management.

[Interdisciplinary Simulation of Emergency Caesarean Section to Improve Subjective Competence]. / Subjektiver Kompetenzgewinn zur Durchführung eines Notfallkaiserschnitts mittels interdisziplinärem Simulationstraining.

The emergency caesaran section is a gynecological emergency situation which is potentially life-threatening for mother and child. In the management of these time-critical situations human factors as well as the competence of the crisis resource management team have been shown to be important factors for success. The concept "simulation" has not been validated as a training tool for professional competence of multidisciplinary teams in the delivery suite. The aim of this study was, to assess the competence gain by subjective evaluation of the team members after taking part in an emergency caesarian section training which is integrable into the daily clinic setting. Method 36 members of a multidisciplinary team of a delivery suite took part in a 4-hourly "high-fidelity" simulation training "emergency caesarian section". Scenarios were created around the case setting of eclampsia with bradycardia of the child, uterus rupture, placenta abruption and cord prolapse. Each participant was involved in 2 scenarios as either a spectator or a team member. Using a questionnaire, the course performance and debriefing were evaluated and the subjective professional competence in Crisis Resource Management were recorded. Results In the collective of the trainee (over/equal 5 years), 25% had no experience in any cases of emergency caesarean in practice. On a scale of 1 to 6 (1=very good, 6=fail) the course was given an overall mark of 1.4 and a mark of 1.8 for its relevance to daily work. 6 months after the training, participants rated their competencies in prioritising necessary actions, following treatment plans, communicating among the team members as well as integrating new information as significantly improved. Conclusion The 4-hour simulation training can be easily integrated into everyday clinical practice. The participants marked the course scenarios as realistic and relevant for their clinical practice. The number of years of prior work experience is not significanty related with the experience in rare emergency situations. The interdisciplinary team training is a way to improve individual performance as well as to establish and practise interdisciplinary emergency concepts.

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.

ASSOCIATION BETWEEN PLACENTAL ABRUPTION AND CAESAREAN SECTION AMONG PATIENTS AT KHYBER TEACHING HOSPITAL PESHAWAR.

BACKGROUND: Ante partum haemorrhage remains to be a major cause of morbidity and mortality.30% of this haemorrhage is attributed to placental abruption. Along with other adverse maternal outcomes, it increases the risk of Caesarean sections in patients, which is a public health concern. This study was conducted to find out whether any significant association exists between placental abruption and C-section in our set up. METHODS: A cross-sectional study was conducted from July 26th, 2011 to May 1st, 2013 (i.e., 21 months) in the Department of Obstetrics and Gynaecology, Khyber Teaching Hospital Peshawar on a sample of 334 patients who presented with antepartum haemorrhage after 28 weeks of gestation. All those patients with and without placental abruption were followed throughout pregnancy and labour to detect the risk of caesarean section. RESULTS: Among study participants, parity had the highest dispersion while gestational age had the lowest. Caesarean section was performed on 26.3% (95% CI) of the study participants. Proportion of placental abruption among patients presenting with ante partum haemorrhage was 20.6%, (95% CI) out of which 7.5% underwent C-section. Association between placental abruption and C-section was found significant at α = 0.05 (p = 0.03). CONCLUSION: Risk of caesarean section is increased in pregnancies complicated by placental abruption as compared to pregnancies complicated by other causes of ante partum haemorrhage.

The role of mean platelet volume and platelet distribution width in the prediction of placental abruption.

We determined the role of mean platelet volume (MPV) and platelet distribution width (PDW) in the prediction of placental abruption (PA) prior to caesarean section. Data obtained between January 2011 and July 2014 from patients (n = 33) with PA and healthy control subjects (n = 67) matched for age- and gestation-stage were analysed. Pre-operative and post-operative MPV and PDW were significantly different between the PA and control groups when cut-off values for MPV were set at 9.23; sensitivity at 87.8% and specificity at 46.2%; positive predictive value (PPV) at 48.3%; and negative predictive value (NPV) at 90.0%. When the cut-off value for PDW was set at 18.5, the sensitivity was 100% and specificity 71.6%, PPV 40.7% and NPV 59.3% for the prediction of PA. MPV and PDW levels were significantly higher in cases of PA. These results suggest that clinical evaluation of MPV and PDW displays reasonable sensitivity and specificity as a marker of PA, prompting the need for more research in this area of clinical study.

Obstetric complications on deployed operations: a guide for the military surgeon.

Modern military general surgeons tend to train and then practice in 'conventional' surgical specialties in their home nation; however, the reality of deployed surgical practice, either in a combat zone or on a humanitarian mission, is that they are likely to have to manage patients with a broad range of ages, conditions and pathologies. Obstetric complications of war injury include injury to the uterus and fetus as well as the mother and both placental abruption and uterine rupture are complications that military surgeons may have little experience of recognising and managing. On humanitarian deployments, fetomaternal complications are a common reason for surgical intervention. We report a recent patient's story to highlight the obstetric training needs of military surgeons.

Treatment of pregnant patient with disseminated intravascular coagulation (DIC) due to placental abruption--a case report.

A primigravid woman at 29th gestational week with placental abruption causing fetal death, that underwent instant cesarean section, developed a disseminated intravascular coagulation (DIC), revealed by hemoperitoneum and hematoma of the abdominal wall. After re-laparotomy and transfusion of blood, fresh plasma, and platelets, the patient was discharged from hospital on the 14th postoperative day completely recovered. To conclude, conservative surgical approach for DIC treatment is possible and safe. Novel antifibrinolitic drugs are recommended for obstetrical patients with DIC to enable a healthy subsequent pregnancy.

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.

Decision-to-delivery interval in suspected placental abruption - association with pregnancy outcome.

OBJECTIVE: To determine the association between decision to delivery interval (DDI) and short-term perinatal outcome in cases of suspected placental abruption delivered by cesarean section (CS). STUDY DESIGN: A retrospective cohort study of all cases of placental abruption delivered by CS (2010-2012) in a single university affiliated tertiary center. Composite adverse neonatal and maternal outcome were assessed. RESULTS: The rate of placental abruption was 0.5% (140/27 677 deliveries) and 65/140 (46%) were delivered by CS. Indications for CS were non-reassuring fetal heart rate (NRFHR) in 32/65 (49.3%), maternal bleeding 20/65 (30.7%) and other indications in 13/65 (20%). Obstetrical and labor characteristics were similar unrelated to the indication for CS. Gestational age at delivery was higher in the group operated due to NRFHR (36 ± 4.3, 34 ± 3.7 and 32 ± 4.1 weeks, respectively, p = 0.03). DDI was shortest when CS was due to NRFHR followed by CS due to maternal bleeding or other indications (23 ± 19, 30 ± 16, 50 ± 40 min, respectively, p = 0.001). The umbilical artery PH was lower in those who operated due to NRFHR (7.17 ± 0.17, 7.23 ± 0.06 and 7.30 ± 0.09, respectively, p = 0.002). The overall rate of neonatal and maternal composite outcome was 66% and 40%, respectively with no significant difference in relation to indication for CS. CONCLUSION: In cases of suspected placental abruption, fetal short-term morbidity is probably related to the indication for CS and not only to DDI.

Prediction of fetal acidemia in placental abruption.

BACKGROUND: To determine the major predictive factors for fetal acidemia in placental abruption. METHODS: A retrospective review of pregnancies with placental abruption was performed using a logistic regression model. Fetal acidemia was defined as a pH of less than 7.0 in umbilical artery. The severe abruption score, which was derived from a linear discriminant function, was calculated to determine the probability of fetal acidemia. RESULTS: Fetal acidemia was seen in 43 survivors (43/222, 19%). A logistic regression model showed bradycardia (OR (odds ratio) 50.34, 95% CI 11.07-228.93), and late decelerations (OR 15.13, 3.05-74.97), but not abnormal ultrasonographic findings were to be associated with the occurrence of fetal acidemia. The severe abruption score was calculated for the occurrence of fetal acidemia, using 6 items including vaginal bleeding, gestational age, abdominal pain, abnormal ultrasonographic finding, late decelerations, and bradycardia. CONCLUSIONS: An abnormal FHR pattern, especially bradycardia is the most significant risk factor in placental abruption predicting fetal acidemia, regardless of the presence of abnormal ultrasonographic findings or gestational age.

Intra-amniotic fluconazole therapy for Candida albicans intra-amniotic infection.

BACKGROUND: The consequences of intra-amniotic Candida infection can be devastating. Currently, standard management includes delivery. We identified only one previous case reporting intrauterine antifungal therapy, which used transcervical amphotericin B. We present two cases of intra-amniotic Candida infection treated with intra-amniotic fluconazole instilled before membrane rupture. CASES: Two patients presented with intra-amniotic Candida albicans infection that was diagnosed during previability. Both underwent cerclage placement before culture results were available. Aggressive antifungal therapy was instituted using oral, vaginal, and intra-amniotic fluconazole instilled through serial amniocenteses. Both fetuses survived without sequelae. CONCLUSION: Intra-amniotic Candida infection is associated with preterm rupture of membranes, preterm labor, severe neonatal infection, and fetal death. Early diagnosis and treatment is essential.

Placenta praevia, placental abruption and amphetamine use in pregnancy: a case study.

UNLABELLED: Pregnant women who misuse alcohol or substances often develop obstetric conditions that further complicate their pregnancy. This case study reflects on the maternity care provided for a woman who continued to use amphetamines during her pregnancy; and who was diagnosed with placenta praevia and subsequently suffered a placental abruption. Alcohol and substance misuse in pregnancy is currently escalating, increasing the risk in maternal and neonatal morbidity and mortality. Midwives must be confident in the advice and care they provide in order to reduce the risks caused by substance misuse, and be able to support this with evidence-based care. PURPOSE: The purpose of this case study is to discuss the obstetric condition involved with placenta praevia with the occurrence of a placental abruption in a woman who uses amphetamines during pregnancy; and the midwifery and obstetric care involved. INTEREST/RELEVANCE/CONGRUENCY: It will highlight the importance of evidence-based care in high risk obstetrics. CONTENT: (1) Case summary; (2) discussion; (3) risk factors; screening, diagnosis and management; foetal and neonatal monitoring; postnatal management, and trauma informed care. CONCLUSION: It was shown with planning, understanding, communication, and vigilance, the care of an amphetamine using pregnant woman with a diagnosis of placenta praevia and abruption can be successfully accomplished. The management of the woman discussed in this case study was within the recommendations currently available in the literature.