Successful management of multiple pregnancies in a family with varying severity of Von Willebrand disease.

We present the obstetric history of a family of three sisters with Von Willebrand disease, managed in our centre over the course of nine successful pregnancies. The abnormalities result from inheritance of an exon 50 skipping mutation in the Von Willebrand factor gene, resulting from consanguinity. Two of the sisters were identified as having a severe phenotype with a Von Willebrand factor level of less than 5 IU/dl, with the other having a mild phenotype. Of the sisters with a severe phenotype, one had a number of prenatal complications and required early onset prophylaxis with Von Willebrand factor concentrate, whilst the other had a less complicated clinical course, only requiring Von Willebrand factor concentrate to cover labour. The sister with mild Von Willebrand disease had a rise in Von Willebrand factor levels during pregnancy and required no specialist treatment. The report highlights the markedly different clinical courses that can occur in patients with Von Willebrand disease and the different approaches to management.

Survival of pregnancies with small for gestational age detected before 24 weeks gestation.

OBJECTIVE: Counselling women where severe growth abnormalities are detected early in the pregnancy is often difficult due to a paucity of outcome data of this specific subset of early onset disease. This study therefore aimed to assess the outcome of pregnancies where an estimated fetal weight less than the third centile were detected prior to 24 weeks gestation. STUDY DESIGN: A retrospective study in two London teaching hospitals, over an eight year period was performed, analysing all pregnancies with an ultrasound estimated fetal weight less than the third centile prior to 24 weeks gestation. Outcome data: intrauterine death, neonatal death, survival to discharge, gestation at delivery and birthweight were collected. RESULTS: Out of 20 pregnancies included in the analysis, six died in utero, two died in the neonatal period and 12 (60%) survived until discharge. Of the livebirths, 67% delivered preterm and 100% percent of livebirths were delivered by Caesarean Section. CONCLUSION: When severe growth abnormalities were detected before 24 weeks, more than half of pregnancies resulted in survival to neonatal discharge. There was an increased incidence of preterm delivery, caesarean section and neonatal unit admission. This information is useful in counselling parents.

Influence of birthweight on perinatal outcome in fetuses with antenatal diagnosis of congenital heart disease.

AIM: The incidence of congenital heart disease (CHD) accounts for the largest proportion of infant mortality attributable to birth defects. Associations have previously been reported between CHD and low birthweight. Low birthweight is independently associated with adverse outcome and has characteristically been calculated using population-based charts. This aim of this study was to determine the incidence of small for gestational age (SGA) in fetuses with CHD utilizing customized birthweight centiles and to determine the effect of SGA on adverse outcome. METHODS: A retrospective cohort study was performed between 2006 and 2011. All singleton fetuses with CHD, with no associated karyotype or structural extra-cardiac abnormalities, who delivered at St Thomas's Hospital, London, were included. Population and customized birthweight centiles were calculated and perinatal outcome data were recorded. RESULTS: A total of 17% of fetuses with CHD had a birthweight centile <10th when population centiles were used, and 25% when customized birthweight centiles were applied. There was no correlation between SGA and increased adverse perinatal outcome. CONCLUSIONS: A high proportion of fetuses with CHD are classified as SGA when both population and customized birthweight centiles are used. SGA does not correlate with adverse outcome in the perinatal period. The cardiac defect therefore appears to be the main determinant of outcome and not the size of the baby at delivery.

Foetal congenital heart disease: obstetric management and time to first cardiac intervention in babies delivered at a tertiary centre.

OBJECTIVES: The aim of this study was to determine the timing of neonatal cardiac intervention in babies with antenatally diagnosed congenital heart disease and the impact on obstetric management. METHODS: A retrospective review of all deliveries between January, 2008 and December, 2009 was conducted in a tertiary centre with foetal and paediatric cardiology, maternal-foetal medicine, and obstetric units. All live births with antenatally detected congenital heart disease were included. Data were collected from foetal, paediatric cardiology, and maternity databases and records. Induction, delivery mode, and timing of the first cardiac intervention in the neonate were studied. RESULTS: 205 deliveries were included. Induction and elective Caesarean section rates were 51.2% (105/205) and 14.1% (29/205), respectively. The vaginal delivery rate was 56% (115/205). There was a non-significant trend towards a higher rate of vaginal delivery after spontaneous labour than after induction (75% versus 66%; p = 0.234). The rate of neonatal cardiac intervention during the initial stay was 59.5% (122/205); it was 18.5% (38/205) within 48 hours and 25.8% (53/205) within 72 hours. The median time to first intervention was 4 days (interquartile range 2-8). Babies with hypoplastic left heart syndrome (median 3, interquartile range 2-6), transposition of the great arteries (median 1, interquartile range 0-4.5), and arrhythmia (median 0.5, interquartile range 0-1) had a significantly earlier time to first intervention compared with those with other conditions (p = 0.001). CONCLUSION: Vaginal delivery can be achieved in women delivering babies with major congenital heart disease at a tertiary centre. Delivery in or near a tertiary centre is recommended for patients requiring early intervention, of which many can be identified in advance.

Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group.

A national U.K. workshop to discuss practical clinical management issues related to pregnancy in women with myasthenia gravis was held in May 2011. The purpose was to develop recommendations to guide general neurologists and obstetricians and facilitate best practice before, during and after pregnancy. The main conclusions were (1) planning should be instituted well in advance of any potential pregnancy to allow time for myasthenic status and drug optimisation; (2) multidisciplinary liaison through the involvement of relevant specialists should occur throughout pregnancy, during delivery and in the neonatal period; (3) provided that their myasthenia is under good control before pregnancy, the majority of women can be reassured that it will remain stable throughout pregnancy and the postpartum months; (4) spontaneous vaginal delivery should be the aim and actively encouraged; (5) those with severe myasthenic weakness need careful, multidisciplinary management with prompt access to specialist advice and facilities; (6) newborn babies born to myasthenic mothers are at risk of transient myasthenic weakness, even if the mother's myasthenia is well-controlled, and should have rapid access to neonatal high-dependency support.

Venous malformations of the anterior abdominal wall in blue rubber bleb naevus syndrome: implications for antenatal and intrapartum management.

Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder characterized by rubbery blue-purple cutaneous nodules that are histologically thin-walled dilated vascular spaces. The exact inheritance of the disease in unknown but in cases of familial recurrence, there appears to be a pattern of autosomal dominant inheritance. The vascular lesions may manifest in any organ system but tend to predominate in the gastrointestinal tract (GI). There are only a handful of cases reported in the literature, but reported complications arising from the naevi include sponatenous GI bleeding requiring laparotomy and blood transfusion and the development of large naevi in the cervix thus preventing vaginal delivery. In this case we describe a patient with known BRBNS who developed symptomatic anaemia during her pregnancy which required antenatal admission and blood transfusion. She was managed expectantly in a multidisciplinary setting by obstetricians, gastroenterologists and an obstetric physician with the aim of a vaginal delivery. Nevertheless, she had an elective caesarean section at term for breech presentation. Surgery was complicated by the unexpected finding of venous malformations within the abdominal wall musculature and subcutaneous fat that resulted in a primary haemorrhage and required urgent blood transfusion. The patient made a good postoperative recovery and had a healthy male infant who at birth displayed no external features of BRBNS. This report demonstrates for the first time the appearance of naevi in the abdominal wall and the important considerations that need to be made regarding mode of delivery and future pregnancies.

Accuracy of prenatal diagnosis in a tertiary fetal medicine unit.

AIMS: To establish the accuracy of prenatal diagnosis in a tertiary referral fetal medicine unit by comparing those diagnoses made prenatally with diagnoses made at birth until discharge, and with postmortem information from cases that resulted in termination, intrauterine, or neonatal death. METHODS: All cases seen in the Fetal Medicine Unit between 1 June 2004 and 30 November 2005 were collected prospectively and sorted according to diagnosis. Relevant outcome data for these pregnancies were collected including postmortem information. RESULTS: 681 cases seen which accounted for 1219 visits. 198 were classified prenatally as a major abnormality, 46 cases minor, 56 with raised nuchal translucency, and 381 no abnormality. Outcome details were not available for analysis in two cases. Therefore 679 (99.7%) cases were available (711 out of 713 fetuses). Of the liveborns, 93.6% of the prenatal diagnoses were confirmed, 5.1% were resolved (predominantly soft markers), and 1.3% resulted in an additional major abnormality that had a significant clinical effect. Postmortem examinations were performed on 52% fetal or neonatal deaths with a normal or unknown karyotype. There was one new finding at postmortem that changed the fetal medicine diagnosis significantly. CONCLUSIONS: Accuracy of prenatal diagnosis in a tertiary fetal medicine unit is high. Parents and staff need to be aware that not all abnormalities will be detected prenatally, but inaccurate diagnosis is uncommon. Clinical indicators for benchmarking need to be developed.