Fulminant type 1 diabetes linked with fetal death in utero.

Fulminant type 1 diabetes is a relatively new subtype of type 1 diabetes characterised by a sudden onset of severe diabetic ketoacidosis (DKA) in patients with no history of diabetes and can cause imminent death if untreated. We discuss a rare case of a Pacific Islander woman who was 36 weeks pregnant and presented to the emergency department with DKA and fetal death in utero having had a normal glucose tolerance test 4 weeks earlier. She was diagnosed with fulminant type 1 diabetes and was treated with an intravenous insulin-dextrose infusion. She delivered a stillborn female infant and was discharged on regular subcuticular insulin. This case is helpful in understanding a rare, lethal disease that is not well reported globally and especially in Australia, as it requires prompt recognition and treatment to prevent detrimental outcomes.

A case series describing the multidisciplinary management of pulmonary arterial hypertension in pregnancy: Time for optimism.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a high-risk condition during pregnancy, with recent literature describing mortality rates of up to 23%. AIM: To describe the course and outcomes of pregnancy for women with PAH in a major Australian metropolitan referral centre over a 15-year period. METHODS: Retrospective review of medical records of all pregnant women with PAH over the period 2005-2020. RESULTS: We report the outcomes of nine pregnancies in six women. In five women, seven pregnancies proceeded to term with birth of a healthy neonate, five vaginal births and two caesareans. Two women opted for a termination of pregnancy in the first trimester following counselling. The planning of care and patient-centred decision-making was individually tailored by a multidisciplinary team. The pulmonary hypertension clinic provided specialist support including the management of pulmonary vasodilators. All women who delivered a live offspring received neuraxial anaesthesia. CONCLUSIONS: Women with this condition are ideally managed in a centre with expertise in PAH; counselling regarding the risks is imperative. Regional anaesthesia, irrespective of the mode of delivery, facilitated safe delivery and improved patient experience. The option of aiming for a term vaginal birth needs to be considered in these complex women.

Bruck Syndrome: Beyond the Obvious.

INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indistinguishable. CASE PRESENTATION: We present a prenatally diagnosed case of Bruck syndrome in a young multiparous woman, with no notable personal, family or obstetric history. A 12-week ultrasound raised the suspicion of short long bones, subsequently confirmed at 16 weeks. In addition, bilateral fixed flexion of the elbow, wrist, and knee joints as well as talipes was observed. Chromosomal SNP microarray analysis (0.2 Mb) detected a homozygous deletion at chromosome 3, band q24, involving a part of PLOD2 to a part of PLSCR4. At mid-trimester morphology, bilateral intrauterine fractures of the humerus and femur were evident. In the late third trimester, a fetal echocardiogram noted enlargement of the right heart with severe tricuspid regurgitation in combination with pulmonary insufficiency and a restrictive arterial duct. The potential risk of premature closure of the ductus arteriosus near term led to delivery by emergency caesarean section. CONCLUSION: To our knowledge, this is the first case of Bruck syndrome prenatally confirmed by chromosomal microarray analysis and the second reported case with an extra-skeletal abnormality. This case highlights the importance of comprehensive fetal morphological assessment during pregnancy as diagnosis of an additional abnormality has the potential to impact both management and prognosis.

Fetal heart block: Vaginal delivery an option.

BACKGROUND: Fetal heart block (FHB) occurs in approximately 1:20 000 births and is associated with significant morbidity and mortality. Vaginal delivery with intrapartum fetal scalp lactate monitoring is offered as an option at our centre for selected cases, in contrast with the published literature advocating caesarean birth. AIMS: To review perinatal outcomes at delivery for FHB at a tertiary referral hospital. MATERIALS AND METHODS: Ours was a retrospective cohort study from 1 January, 2007 to 30 June, 2020. The infant outcomes are summarised in three delivery groups: vaginal delivery, planned caesarean section (CS) and unplanned CS. RESULTS: There were 23 newborns in the study period, with a median gestation at birth of 37.2 weeks and there was one antepartum fetal death in this cohort. Vaginal delivery was planned in 12 women: eight had normal births, three of these women progressed to an intrapartum (unplanned) CS and one woman had a planned CS. All live babies in the vaginal delivery cohort had an Apgar score greater than seven at five minutes. Of the 22 newborns, six required intubation, of which five had been delivered by a planned CS. CONCLUSION: Our data suggest that planned vaginal delivery is a safe option for selected women carrying a fetus with FHB. Managing labour with serial fetal scalp lactates, and the involvement of senior clinicians are important factors in achieving a successful outcome.

Glycogen storage disease type IIIa in pregnant women: A guide to management.

Glycogen storage disease type IIIa (GSD-IIIa) is an autosomal recessive disorder that impairs glycogenolysis, producing ketotic hypoglycaemia, hepatomegaly, cardiac and skeletal myopathy. During pregnancy, increased metabolic demand requires careful management. There are few case reports about pregnancy in GSD-IIIa, however none detail management during caesarean section. This case describes a 25-year-old women with GSD-IIIa diagnosed at 5 months of age. She had modest metabolic control with complications including hepatomegaly, mild skeletal myopathy and poor enteral function requiring multiple operative interventions. She had a planned pregnancy managed by a multidisciplinary team, which included a metabolic geneticist, maternal-fetal medicine specialist and metabolic dietitian. Nocturnal cornstarch was provided to meet basal carbohydrate requirements and a high protein diet with regular carbohydrates was consumed throughout the day. The woman remained well during the antenatal period and had an induction of labour at 38 weeks gestation. She had an emergency caesarean section in early labour due to an abnormal cardiotocography (CTG). The intraoperative and postoperative period were uncomplicated. A live baby boy was born in good condition, weighing 2440 g with APGARs of 9 and 9 at 1 and 5 min. She was managed in labour with glucose 10% IV at 3.5 mg/kg/min, hourly blood sugar level (BSL) monitoring and early epidural anaesthetic. The aim of the first 24-h post-partum was prevention of hypoglycaemia, which required strict management with dextrose 10% IV at 3.5 mg/kg/min, oral carbohydrate supplementation and BSL monitoring. This case highlights the complexity of GSD-IIIa as well as provides a proposed plan for management during pregnancy.

Placenta accreta spectrum: We can do better.

BACKGROUND: Placenta accreta spectrum (PAS) has a high risk of maternal morbidity, and requires meticulous antenatal and peripartum management. AIMS: To compare the management and outcomes of PAS between women with and without antenatally suspected disease, and to evaluate the effect of multidisciplinary team (MDT) management. MATERIALS AND METHODS: A retrospective cohort study identified all hysterectomy specimens with a histopathological diagnosis of PAS in the Western Sydney Local Health District between January 2006 and December 2019, and analysed each patient's clinical course. RESULTS: Seventy patients had PAS diagnosed on hysterectomy specimens, of which 38 cases (54%) were antenatally suspected. Women with suspected PAS were more likely to have a previous caesarean section (100% vs 68%, P < 0.001), placenta praevia (92% vs 56%, P < 0.001) and anterior placenta (95% vs 66%. P = 0.011). Suspected PAS was associated with less maternal blood loss (median blood loss 2000 mL vs 4000 mL, P < 0.001), fewer red blood cell transfusions (median four units vs nine units, P < 0.001), and shorter intensive care or high dependency unit admission (mean stay one day vs three days, P = 0.037). There were no significant differences in other maternal morbidities. MDT management was associated with a clinically significant reduction in maternal blood loss (1500 mL vs 2520 mL, P = 0.09) and red blood cell transfusion (one unit vs six units, P = 0.04). The mean gestation of delivery was 37 weeks in both groups with no differences in neonatal morbidity. CONCLUSIONS: Both antenatally diagnosed PAS and MDT management reduced blood loss and blood transfusion. Elective delivery at 37 weeks gestation reduces the neonatal risks of preterm delivery.

Twin anemia polycythemia sequence in dichorionic diamniotic twins: A case report and review of the literature.

Although rare, literature demonstrates evidence that vascular anastomoses do occur in dichorionic twins. Therefore, twin anemia polycythemia sequence should be considered as a differential diagnoses in dichorionic twins if there is suspicion on antenatal ultrasound.

Two uterine scars and a vaginal birth.

Uterine scarring increases the risk of uterine rupture during labour, which can result in significant maternal and fetal morbidity and mortality. There is insufficient evidence for a clear recommendation on the safety of vaginal delivery in the context of a patient with both a uterine perforation and a previous lower uterine segment caesarean section. We present the case of a woman with a history of one previous caesarean section and uterine perforation with a uterine manipulator, who subsequently had an uncomplicated normal vaginal delivery.

Are we over-diagnosing vasa praevia? The experience and lessons learned in a tertiary centre.

BACKGROUND: Vasa praevia (VP) is a rare obstetric condition in which unprotected fetal vessels transverse the cervix, are vulnerable to rupture during labour and may result in rapid exsanguination of the fetus. Antenatal diagnosis of VP has resulted in excellent outcomes. However, there are little data available on the false positive rates for the antenatal diagnosis of VP. Improving accuracy of the diagnosis of VP can potentially improve outcomes and reduce unnecessary intervention. AIMS: To assess our accuracy in the diagnosis of VP, examine our false positive diagnoses of VP and suggest strategies during antenatal ultrasound to aid in the antenatal diagnosis of VP. MATERIAL AND METHODS: We conducted a retrospective descriptive study of women diagnosed with VP antenatally over 11 years at a single tertiary hospital and eligible patients were identified from obstetric databases. All medical records, including ultrasound reports, were reviewed and compared with the placental histological findings and both operative and midwifery documentation of the cord insertion. RESULTS: Twenty-three women (25 babies) were diagnosed with VP and underwent a caesarean section delivery at a mean gestational age of 36 weeks. The false positive rate in our series was 17% (4/23). CONCLUSIONS: Our study highlights the importance of postnatal confirmation of the diagnosis of VP and careful documentation of intraoperative findings of the placenta and cord insertion. We suggest strategies to aid in the accurate diagnosis of VP, thereby improving clinical decision-making and reducing unnecessary intervention.

The risk of adverse maternal outcomes in cases of placenta praevia in an Australian population between 2007 and 2017.

BACKGROUND: Placenta praevia is characterised by an inferior placental margin that overlies or falls within 20 mm of the endocervical os. It remains a common cause of antepartum haemorrhage and is associated with adverse maternal and neonatal outcomes. AIMS: We aimed to determine the association between antepartum and postpartum haemorrhage and adverse outcomes in cases of placenta praevia. MATERIALS AND METHODS: The study population included women diagnosed with placenta praevia, who delivered between 1 April 2007 and 30 April 2017. The endpoints of interest included blood transfusion, emergency caesarean section, peripartum hysterectomy and admission to intensive care. RESULTS: There were 513 cases of placenta praevia, of which 67.3% delivered at term. Antepartum haemorrhage was associated with an increased risk of blood transfusion (relative risk (RR) 3.29; 95% CI 2.04-5.32), emergency caesarean section (RR 1.38; 95% CI 1.18-1.62) and preterm delivery, after 32 weeks gestation (RR 4.21; 95% CI 2.77-6.38). Postpartum haemorrhage more than doubled the risk of blood transfusion (RR 9.08 95% CI 5-16.44) and admission to the intensive care unit (RR 10.44; 95% CI 2.34-46.59), as well as increased the risk of peripartum hysterectomy (1.4%). We also described the management of 12 cases of placenta praevia (2.3% of the study population) delivered vaginally. CONCLUSIONS: Antepartum and postpartum haemorrhage in cases of placenta praevia are predictors of several adverse outcomes. However, the high rate of term deliveries reaffirms the current practice of expectant management.

An audit of pregnancy outcomes in solid organ transplant recipients at a metropolitan hospital.

BACKGROUND: Pregnancies in patients with solid organ transplants have higher rates of complications and caesarean sections (CS). AIM: To perform an audit of the pregnancy outcomes in transplant recipients, to determine the rate of CS in our cohort, the appropriate skin incision for CS in these patients and to formulate recommendations for preoperative planning. MATERIALS AND METHODS: This is a retrospective cohort study. All patients who had a solid organ transplant were identified from the obstetrics database. The operation records of the transplant recipients who delivered by CS were reviewed and the de-identified data were evaluated for pregnancy outcomes. RESULTS: This cohort consisted of 22 women: six had simultaneous pancreas and kidney (SPK) transplants and 16 had kidney transplants. Over a ten-year period, four women had two pregnancies and one had a twin pregnancy, thus 27 babies were born. The rate of CS was 58% (n = 15) and the surgical approach in 13 of these patients was by Pfannenstiel incision. One patient had an elective midline incision at the first CS, which was repeated in the next pregnancy. Two CS were complicated by bladder injury, both occurring in SPK recipients. CONCLUSION: Patients with solid organ transplants have a higher rate of CS and SPK patients may be at a higher risk of bladder injuries during CS. Our data suggest that Pfannenstiel skin incision is still suitable for these patients. We recommend reviewing the operative details of the transplant operation and a pelvic magnetic resonance imaging for pre-operative planning.

Acinic cell carcinoma of the parotid gland in pregnancy: an approach to cancer in pregnancy.

A 27-year-old woman presented with an enlarging painless right preauricular mass at 28 weeks' pregnant. The mass had been stable for more than 10 years, but showed rapid growth during pregnancy. Imaging and biopsy were consistent with parotid gland malignancy, with surgical resection undertaken at 33+4 weeks' gestation. Histopathology confirmed acinic cell carcinoma. Labour was induced without complication at 36+6 weeks' gestation and adjuvant radiotherapy commenced 2 weeks postpartum. At 9 months follow-up, both mother and baby were well, with no signs of disease recurrence. Rapid progression in pregnancy, of a previously stable salivary gland mass, is a common feature among reported cases and was also observed in the current case. This suggests an aetiological link between pregnancy and salivary gland tumour progression. We demonstrate successful management of a parotid gland malignancy in pregnancy and review guiding principles for cancer management in pregnancy.

Maple syrup urine disease: tailoring a plan for pregnancy.

Maple syrup urine disease (MSUD) is an autosomal metabolic condition that can cause significant morbidity in pregnant women and their infants. Advances in nutritional management mean more mothers with congenital metabolic disorders are becoming pregnant, and presenting challenges in obstetric care. In particular, the increase in protein requirements during pregnancy and metabolic stress of childbirth require careful planning and caloric titration. We report a case of a second time mother with MSUD and demonstrate a treatment scaffold to help achieve successful pregnancies for women with this and similar conditions.

Pregnancy in a patient with congenital analbuminaemia.

Congenital analbuminaemia is a rare autosomal recessive disorder that is characterised by a severe reduction or total absence of serum albumin. This condition has implications for therapeutics as a large proportion of commonly used drugs are plasma protein bound where albumin is the primary component of plasma protein. This is the first case report of pregnancy in a patient with congenital analbuminaemia in the medical literature. In the absence of drug dosage guidelines for patients with congenital analbuminaemia, a list of drugs which may be required for this patient during pregnancy, delivery and/or emergency situations were compiled by a multidisciplinary team. Our patient suffered from polyhydramnios during her pregnancy which was successfully managed with albumin transfusions and had a normal vaginal delivery with no complications in the intrapartum or postpartum period. The management and unique challenges of pregnancy in a patient with congenital analbuminaemia are discussed.

A perinatal review of singleton stillbirths in an Australian metropolitan tertiary centre.

It is estimated that everyday 7000 women worldwide have their pregnancy end with a stillbirth, however, research and data collection on stillbirth remains underfunded. This stillbirth case series audit investigates an apparent rise in stillbirths at a Sydney tertiary referral hospital in Australia. A retrospective case series of singleton stillbirths from 2005-2010 was conducted at Westmead Hospital. Stillbirth was defined as per the Perinatal Society of Australia and New Zealand classification as a death of a baby before or during birth, from the 20th week of pregnancy onwards, or a birth weight of 400 grams or more if gestational age is unknown. A total of 215 singleton stillbirths were identified in a cohort of 28 109, a rate of 7.6 per 1000 singleton births. There was a significant increase in annual stillbirth rate at our institution; the rate exceeded both Australian national and state singleton stillbirth rates. After pregnancy terminations over 20 weeks were excluded from the data, there was no statistical change in the stillbirth rate over time. Congenital anomalies (27%) and unexplained antepartum death (15%) remained as major causes; fetal growth restriction (17%) was also identified as an increasingly important cause, particularly in preterm gestations. Termination of pregnancy after 20 weeks was found to be the cause of rising stillbirth rate at our institution. Local and national data collection on stillbirth should be standardised and should include differentiation of termination of pregnancy as a separate entity so as to accurately assess stillbirth to target appropriate research and resource allocation.

Vein of Galen aneurysm.

BACKGROUND: AV malformation of the vein of Galen, also known as vein of Galen aneurysm, is an intracranial anomaly characterised by a midline, high flow lesion with a complex vascular architecture. It compromises less than 1% of all cerebral arteriovenous malformations seen in adults and children. Timely diagnosis of the malformation is of importance particularly during the perinatal period due to the large systemic shunting within the fetal brain potentially leading to cardiac failure, hydrops and perinatal death. METHOD: Case Report: In this report, we present a case that had an increased nuchal translucency of 6 mm at 12 weeks gestation (karyotype normal), nuchal oedema of 12 mm noted at morphology scan and subsequently diagnosed with vein of Galen malformation at 32 weeks on a follow up scan. It was evaluated further with 3D power Doppler imaging modality. 3D power Doppler imaging provided us with improved images of the malformation in utero which was helpful for characterising the vascular anatomic features of the lesion before planned delivery and neonatal treatment. RESULTS: The patient was followed up with antenatal ultrasounds. There was no evidence of hydrops. She delivered a live healthy infant weighing 2.8 kg by elective caesarean section at 39 weeks. The child is now five and half years old and has undergone embolisation twice. CONCLUSION: We present a case illustrating use of Power Doppler imaging in a vein of Galen malformation. Prenatal diagnosis and endovascular treatment in the early neonatal period is important in preventing heart failure and resultant mortality in vein of Galen aneurysm.

Late diagnosis of hepatic mesenchymal hamartoma and placental mesenchymal dysplasia.

Placental mesenchymal dysplasia (PMD) is a rare condition characterised by placental enlargement, oedematous villi and multiple anechoic cysts. Hepatic mesenchymal hamartoma (HMH) is a benign proliferation of mesenchymal tissue, commonly seen in infants below the age of 2. We report the case of a 28 years old female who was noted to have a fetus with a well-circumscribed cyst on the liver, suggestive of HMH and a large, thickened placenta, with multiple anechoic cysts, consistent with PMD during the third trimester. There were no other structural abnormalities and at 38 weeks she underwent an induction of labour with normal vaginal delivery of a live female infant. While the aetiology is poorly understood, the increased incidence of HMH with PMD and the morphological similarities of the changes seen in both the placenta and liver, suggests a possible common developmental mechanism. There are only 12 other cases of this concurrent pathology in the literature and only one of these had resulted in a term delivery, and ours is the second one to date.