Martin Brauer

Mirror Syndrome: A Systematic Review of Fetal Associated Conditions, Maternal Presentation and Perinatal Outcome

Introduction: Mirror syndrome, also referred to as Ballantyne’s syndrome, is normally defined as the development of maternal edema in association with fetal hydrops. The incidence of mirror syndrome is low and few cases have been published. We describe a case report in association with fetal Ebstein anomaly and provide a systematic review on the fetal associated conditions, maternal presentation and perinatal outcome reported for mirror syndrome. Data Sources: A PubMed database search was done until December 2008 (English, French or German) without any restriction of publication date or journal, using the following key words: Ballantyne syndrome, Mirror syndrome, Triple edema, Pseudotoxemia, Maternal hydrops syndrome, Pregnancy toxemia, Acute second trimester gestosis, and Early onset preeclampsia. Reported cases were considered eligible when fetal associated conditions, maternal symptoms and fetal outcome were clearly described. Results: Among 151 publications a total of 56 reported cases satisfying all inclusion criteria were identified. Mirror syndrome was associated with rhesus isoimmunization (29%), twin-twin transfusion syndrome (18%), viral infection (16%) and fetal malformations, fetal or placental tumors (37.5%). Gestational age at diagnosis ranged from 22.5 to 27.8 weeks of gestation. Maternal key signs were edema (80–100%), hypertension (57–78%) and proteinuria (20–56%). The overall rate of intrauterine death was 56%. Severe maternal complications including pulmonary edema occurred in 21.4%. Maternal symptoms disappeared 4.8–13.5 days after delivery. Discussion: Mirror syndrome is associated with a substantial increase in fetal mortality and maternal morbidity.

Vasa praevia: risk-adapted modification of the conventional management--a retrospective study.

PURPOSE Undiagnosed vasa praevia carries an imminent risk of fetal death and increases with IVF. When diagnosed, the question arises as to whether the conventional prenatal management of routine steroid administration for fetal lung maturation and elective caesarean section in week 35 is generally justified in face of the risks involved. We present a retrospective study of a risk-adapted modification of the conventional management of vasa praevia. MATERIAL AND METHODS We analysed 11 years of records involving 18 cases of antenatally diagnosed vasa praevia at our perinatal centre. Each case was managed by a risk-adapted modification of the conventional treatment where both, the steroid administration and the timing of delivery, were dependent on the patient history and clinical signs for preterm birth. RESULTS There were no lethal fetal, neonatal, or maternal complications. The earliest caesarean section took place at 34 weeks 1 day, the latest at 37 weeks 1 day, and in more than half of the cases at ≥ 36 weeks. CONCLUSION Steroid application is generally recommended for pregnancies before 34 weeks carrying a risk for preterm birth. Thus, retrospectively, none of our cases required steroid administration. This supports our protocol of not obligatorily administering steroids. Delaying the caesarean section up to two weeks beyond the conventionally recommended date of 35 weeks in 78% of our cases resulted in no complications. This justifies the suitability of determining the timing of delivery based on our individual patient assessment. In conclusion, the following recommendations for a risk-adapted management of vasa praevia can be made: 1. weekly evaluation of risk factors for preterm delivery; 2. steroid administration only at risk for preterm birth; 3. admission to hospital with full obstetric and neonatal care facilities between 32 and 34 weeks; 4. elective caesarean section between 35 and 37 weeks, risk-adapted.

Radiofrequency ablation as a minimally invasive procedure in the treatment of twin reversed arterial perfusion sequence in twin pregnancy.

Twin reversed arterial perfusion sequence is a rare anomaly of monochorionic multiple pregnancies affecting 1 of 35,000 pregnancies and 1% of monochorionic twin pregnancies. In this condition the affected twin has lethal malformations including poor or absent heart development and is reversely perfused by a structurally normal co‐twin. We report a case of a 21‐year‐old woman with a monochorionic twin pregnancy affected by twin reversed arterial perfusion sequence. This case highlights the therapeutic options and the management by radiofrequency ablation, which has been shown to be an easy and reliable technique with a high success rate compared with technically demanding fetoscopic procedures.

Prenatal two- and three-dimensional imaging in two cases of severe penoscrotal hypospadias

We present the prenatal two‐ and three‐dimensional (3D) ultrasound (US) findings in two cases of severe penoscrotal hypospadias. 3D sonography was used for better definition of ambiguous genitalia. The images were compared with postnatal clinical features. Despite hypospadias being the most common urogenital anomaly of male neonates, the diagnosis is often missed before birth. Performing prenatal ultrasound should include the study of genitals, not only determining the sex.

Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion.

Almut Giese,* Renate Kirschner-Schwabe, Katharina Blumchen, Lena Wronski, Shabnam Shalapour, Javier Prada, Pablo Hernáiz Driever, Martin Brauer, Markus Schuelke, Günter Henze, and Karl Seeger Department of Pediatric Oncology/Hematology, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany Department of Pediatric Pneumology/Immunology, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany Department of Neuropediatrics, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany Department of Obstetrics, Charité—Universitätsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany

Low Apgar score without acidosis may indicate neuromuscular disorder

OBJECTIVE We hypothesized that in term infants low Apgar score with normal umbilical artery pH (UApH) indicates prenatal damage to the neuromuscular system. STUDY DESIGN Retrospective database search of 42,117 liveborn infants born 1993-2005. Medical record analysis of 3104 term infants with cardiorespiratory maladaptation referred for special neonatal care. Focus on infants with UApH >7.00 and 5-min Apgar <6 (group A, n=74), UApH <7.00 and 5-min Apgar >5 (group B, n=49), and UApH <7.00 and 5-min Apgar <6 (group C, n=14). RESULTS Incidence of 5-min Apgar score <6 was 0.50% in term infants. Mean (SD) UApH was 7.262 (0.075, P=0.075); incidence of UApH <7.00 was 0.30% in term infants. Nucleated red blood cells were elevated without differences in all three groups. Parental consanguinity was present in 39 of the 137 maladapted infants. In groups A/B/C, 10/18/2 infants were small for gestational age (P=0.002 for A vs B) and in 16/1/0 neuromuscular anomalies were identified (P=0.004 for A vs B). Eight of the 17 anomalies had been suspected prenatally. Logistic regression proved neuromuscular disorder the only independent variable discriminating between groups A and B. CONCLUSIONS Neuromuscular problems are the cause rather than the result of maladaptation. For unexplained low Apgar score, especially without acidosis, meticulous examination of the infant including brain imaging and EEG is justified.

[Management of dichorionic twin delivery at term with cephalic-presenting first twin - a monocentric retrospective cohort study].

OBJECTIVE To assess neonatal outcome and delivery mode in dichorionic twin delivery at term with a cephalic-presenting first twin. METHODS A retrospective cohort study of 308 twin deliveries after 37 completed weeks of gestation with a cephalic-presenting first twin undertaken in one perinatal center with active management of second twin delivery. The neonatal outcome was measured by the Apgar score, the umbilical artery pH and the transfer into the neonatal unit. RESULTS In the whole group, 57% were vaginally delivered and 43% needed a Cesarean delivery. The planned vaginal delivery group contained 71% while the planned elective Cesarean delivery group contained 29%. In the planned vaginal delivery group 80% were delivered vaginally, in 15% an emergency Cesarean was necessary, 5% had a vaginal delivery of the first twin followed by Cesarean delivery of the second twin. The neonatal outcome of the second twin shows a higher risk. There are significant differences in the rates of the second twin having lower rates of the umbilical artery pH >7.20 in the group of planned vaginal delivery. The higher risks are compensated in the group of planned elective Cesarean delivery. CONCLUSIONS Planned vaginal delivery of dichorionic twins at term and active second-stage management is associated with lower rate of normal neonatal outcome. These risks should be considered in prenatal informed consent discussions with the pregnant woman.

P33.15: Prenatal diagnosis of Larsen syndrome by 2D and 3D/4D ultrasound

The VACTERL (Vertebral defects; Anal atresia; Cardiac anomaly; Tracheal-Esophageal fistula; Renal defects; Limb defects) association is a rare, usually sporadic, disorder. Prenatal ultrasound features are few and early prenatal diagnosis is difficult. We report a case of prenatal diagnosis of VACTERL syndrome diagnosed by 3D/4D maximum render mode in second trimester ultrasound screening. A 31-year-old woman gravida 1, was referred to our private clinic for a routine second trimester scan at 21 weeks and 3 days of gestation. The 2D scan revealed a single umbilical artery, an enlarged intrahepatic umbilical vein and a small gallbladder. No other structural or biometrical defects were visible. In particular the 2D ultrasound sagittal view of fetal spina did not show abnormal features. The 3D/4D maximum render mode (Voluson 730 Expert, GE) utilized to visualize fetal spina, routinely performed in our clinic, showed a disrupted architecture of the vertebral bodies in the lumbarsacral tract of the fetal spina. VACTERL syndrome was suspected. The parents opted for termination of pregnancy. Post-mortem examination confirmed prenatal findings and revealed furthermore imperforate anus and aorta coartation. Diagnosis of VACTERL syndrome was confirmed. 3D/4D maximum render mode is an easy and useful technique to study fetal spina. The post-processing imaging of the volume sectional planes, give the possibility to visualize the spina in the three planes simultaneously and allows the identification of subtle vertebral defects. In our opinion 3D/4D maximum render mode visualization of fetal spina should therefore be included in a detailed fetal anomaly scan when a single umbilical artery or other features of VACTERL syndrome are present.

P51.02: Increased middle cerebral artery systolic velocity in maternal red cell alloimunization—false positive Doppler ultrasonography

Congenital brain tumors are rare and have an incidence of 3 to 4/100 000 among live births. Teratomas are the most frequent histological type of brain tumors and represent about 62% of cases. Diagnosis relies on fetal ultrasound and is usually made during second or third trimester. We report herein a case of first trimester diagnostic of cerebral teratoma. A 35-year-old gravida 5, para 1 woman was referred at 13 weeks of gestation after first trimester routine scan because of an intracranial mild hyperechoic lesion. The lesion measured 12 mm of diameter and was located in the right frontal area. It was well-defined, rounded, echoic and homogenous with few hyperechogenic spots. Colour Doppler showed a mild vascularization into the lesion. The other cerebral structures had a normal appearance but midline was moved on the left in its anterior part. There was no extra-cranial abnormality. Nuchal translucency was measured at 1.4 mm, crown rump length at 70 mm and biparietal diameter at 25 mm. Fetal karyotype was normal, 46 XY. Despite the lack of anterior description of such a case in the literature during the first trimester, the diagnosis of teratoma was suspected antenatally because the mass showed all ultrasonographic criteria of such an anomaly. Because of the early appearance of the lesion and its large size, prognosis was considered to be poor and a termination of pregnancy was achieved at 14 weeks of gestation, according to French laws. Labour was induced by intravaginal misoprostol. Postmortem examination confirmed the diagnosis.