Heart Disease and Pregnancy: The Need for a Twenty-First Century Approach to Care .

Pregnancy and childbirth present a specific challenge to the maternal cardiovascular system. Pre-existing cardiac diseases, or cardiac diseases that occur during pregnancy, are associated with a significant risk of morbidity and mortality for both mother and baby. In recent decades, cardiac disease has emerged as a leading cause of maternal death in most high income countries, including Australia and New Zealand. The burden of cardiac disease in pregnancy is likely to be growing due to an increase in adult survivors with congenital heart disease embarking on pregnancy coupled with demographic shifts in the age and cardiovascular risk factors of women giving birth and the persisting high incidence of acute rheumatic fever in First Nations women. There is widespread consensus that the best obstetric and neonatal outcomes in women with cardiac disease are delivered by a strategy of carefully coordinated multidisciplinary care. Australia and New Zealand currently lack nationally agreed strategies for clinical practice and service delivery for women with heart disease in pregnancy. This state-of-the-art review summarises some of the key issues faced in relation to prevention, diagnosis, treatment and health service delivery in this patient group and concludes with suggested priorities for policy and research.

Severe skeletal dysplasia caused by a novel FLNB gene mutation.

A late adolescent primigravida was found to have a fetus with a cystic hygroma and significant shortening of the limbs on first-trimester ultrasound. She underwent chorionic villus sampling with normal microarray result. In the early second trimester, the fetus was found to have the absence of all four limbs and a thorough skeletal dysplasia workup was pursued, identifying a variant in the FLNB gene (c.62C>G). The patient underwent termination of pregnancy. The care of this patient was expedited by first-trimester sonographic evidence of limb abnormalities enabling timely clinical management.

Prenatal recognition of cerebriform sebaceous naevus.

Cerebriform sebaceous naevus (CSN) is a rare morphological sebaceous naevus variant and challenging to diagnose prenatally due to its flat, smooth and waxy appearance and lack of association with extracutaneous manifestations.A multigravida was referred to our tertiary obstetric unit at 24 weeks of gestation for evaluation of fetal auricular lesions. We were able to further characterise the lesions via serial obstetric ultrasound imaging with the aid of three-dimensional (3D) technology. Although the precise diagnosis prenatally was uncertain, the use of 3D technology allowed the reconstruction of the fetal cutaneous lesions for multidisciplinary assessment to facilitate the development of a neonatal management plan. The diagnosis of CSN was made postnatally on biopsy.

Acute liver injury in pregnancy.

A woman in her fifth month of pregnancy presented to the outpatient department with vomiting, generalised itching and yellowish discolouration of the skin for 1 week. No history of rashes, fever, pain abdomen or altered stools. In view of four pregnancy losses previously, she was evaluated to have antiphospholipid antibody syndrome and was advised low molecular weight heparin. She was a known type-II diabetic on insulin. Prophylactic oral dydrogesterone and natural micronised progesterone were started at a local hospital 2 months prior, in view of threatened abortion. Investigations revealed grossly elevated serum bilirubin and liver enzymes. Other blood investigations were unremarkable and abdominal ultrasonography was normal. The most likely diagnosis in this case, is drug-induced liver injury due to oral progestin consumption. Causality assessment by Roussel Uclaf Causality Assessment Model was used to establish the diagnosis. High doses of progestin over a prolonged period resulted in acute hepatic toxicity causing itching, jaundice and transaminitis. Cautious use of progestins in appropriate dosage is recommended during pregnancy.

Post-infectious hydrocephalus complicating Listeria meningitis in a healthy newborn.

Listeria monocytogenes is a relatively uncommon cause of foodborne infection in the general population. Most cases of Listeriosis occur among newborns, pregnant women, the elderly and those with impairment of cellular immunity. Neonatal Listeria meningitis is rare. We present a case of Listeria meningitis at the age of 15 days in a previously healthy neonate who presented with acute onset of fever, poor feeding and lethargy. Sepsis workup revealed L. monocytogenes identified in cerebrospinal fluid PCR and culture. The infant's course was complicated by transient syndrome of inappropriate antidiuretic hormone and subsequent hydrocephalus that required a ventriculoperitoneal shunt placement. Though rare, neonatal infections due to Listeria can present with meningitis leading to serious and devastating complications. Our case emphasises the importance of considering Listeria in cases of neonatal meningitis and the value of close follow-up of such cases through early detection and management of acute and long-term complications.

Spontaneous haemoperitoneum in the second trimester of pregnancy.

This is a case of a spontaneous haemoperitoneum occurring in the second trimester of pregnancy which was managed with interventional radiology to avoid laparotomy and its potential consequences. We aim to raise awareness of this condition in pregnancy because the perinatal mortality rate is as high as 36%. Spontaneous haemoperitoneum in pregnancy (SHiP) has frequently been associated with vascular rupture from pre-existing endometriosis. Most cases of SHiP have been managed with laparotomy. However, transcatheter embolisation can impart lifesaving alternatives to more invasive interventions when caring for pregnant patients. More judicious use of imaging procedures may also help improve diagnostic and therapeutic pathways with SHiP. We recommend that high-risk pregnancies are managed in level IV regional perinatal healthcare centres, when possible, where subspecialists and alternative measures of management exist.

Placental mesenchymal disease masquerading as molar pregnancy with a favourable maternal and fetal outcome.

Placental mesenchymal dysplasia (PMD) is an exceptionally rare placental anomaly characterised by placentomegaly and grape-like vesicles resembling partial mole on ultrasonography, yet it can coexist with a viable fetus. We present the case of a primigravida who presented at 22 weeks gestation with a suspected partial mole but with a normally growing fetus. The differential diagnoses considered included placental mesenchymal disease, partial mole and twin pregnancy with molar pregnancy. With normal beta HCG levels and prenatal invasive testing reports, a probable diagnosis of PMD was made, and after thorough counselling, the decision was made to continue the pregnancy. The pregnancy progressed until 37 weeks, culminating in the uneventful delivery of a 2.4 kg healthy male infant. Histopathology confirmed PMD. Early recognition and management of PMD pose significant challenges, given its rarity. Prenatal identification of PMD during both early and late gestation could avert unnecessary termination of pregnancy.

Visual loss and encephalopathy in a pregnant patient with hyperemesis gravidarum.

A pregnant woman in her 20s at 17 weeks of gestation, presented with symptoms of painless diminution of vision preceded by 8 weeks history of hyperemesis gravidarum. On examination, she was confused, disoriented and had gait ataxia with complete loss of vision in both eyes. Fundus examination revealed grade 4 disc oedema with superficial retinal haemorrhages. Possibilities kept were cerebral venous sinus thrombosis, neuromyelitis optica spectrum disorder, posterior reversible encephalopathy syndrome and Wernicke's encephalopathy (WE). Thiamine levels were low. MRI brain with MR venography revealed symmetrical areas of hyperintensities in bilateral medial thalami, hypothalamus, mammillary body and area postrema. She was managed as a case of WE with intravenous thiamine with complete clinical and radiological resolution within 2 weeks of treatment. Therefore, we conclude that a high index of suspicion of WE in appropriate clinical settings leading to early treatment can potentially reverse its grave clinical symptoms and complications.

Refractory supraventricular fetal tachycardia as a cause of non-immune hydrops: management conundrum.

Supraventricular tachyarrhythmia (SVT) is the most common form of fetal tachyarrhythmias. The presentation can vary from ill-defined, non-sustained episodes of tachyarrhythmia to frank non-immune hydrops. The standard of care is transplacental therapy by treating the mother with oral antiarrhythmic drugs, followed by direct fetal therapy in refractory cases. We report a case of primigravida in her late 20s, who presented at 28.1 weeks of gestation with fetal hydrops and SVT. She was initially managed with oral digoxin and flecainide, but due to worsening hydrops, risk of fetal demise and extreme prematurity, further management by direct fetal therapy was given in terms of intramuscular digoxin and intraperitoneal flecainide. Following which, the fetus had a favourable outcome. This case highlights the possible role of direct fetal therapy in refractory cases of SVT.

Management dilemma in Thoracoamniotic Shunt Migrations.

Shunt migration is a rare but significant complication of thoracoamniotic shunting, an intervention widely used for fetal pleural effusion. We describe a case of a term infant noted antenatally to have fetal hydrothorax that was managed with thoracoamniotic shunting but complicated by shunt migration. We also present the current literature on risk factors, complications and management of intrathoracic shunt migration. The majority of shunt migration cases are managed conservatively with no untoward postnatal sequelae, but surgical removal of the migrated shunt has been used for associated clinical complications, if visceral damage is suspected or if postnatal thoracic surgery is indicated for other reasons. We advocate an approach of conservative management for asymptomatic infants, where possible, to avoid unnecessary surgical and anaesthetic risks to very young, often already compromised children. However, further studies are still required to determine optimal management after shunt migration has occurred to ensure the best outcome.

Successful delayed interval delivery of a triplet pregnancy using conservative management.

Preterm birth is a significant cause of perinatal morbidity and mortality, especially in multiple pregnancies. Delayed interval delivery can prolong pregnancy for the remaining fetus(es) in an imminent stillbirth or extremely preterm birth of the first fetus, improving the lastborn's outcomes. We present a case of delayed interval delivery of a triplet pregnancy following preterm prelabour rupture of membranes and progressive cervical insufficiency. Following vaginal delivery of the first fetus at 24+1 gestational weeks, the patient received antibiotics and tocolysis. Cerclage was not conducted as the mother had a vaginal infection. A 15-day delivery interval for the second and third fetuses was achieved. The firstborn required mechanical ventilation and inotropic support, while the others only required continuous positive airway pressure. There is no consensus on the best way to perform delayed interval delivery. We achieved a complications-free interval of 15 days with conservative management in a triplet pregnancy.

Polymicrogyria in a patient after twin-twin transfusion syndrome.

This case report presents a patient with a monochorionic twin pregnancy, development of twin-twin transfusion-syndrome (TTTS) and polymicrogyria (PMG) of one fetus. Due to TTTS grade 3, fetoscopic laser ablation was performed at gestational week 16+1. Sonographic follow-up showed a cortical malformation of the right parietal lobe in the former donor, which was identified as PMG by MRI scans. We describe the course of the pregnancy, as well as the clinical, especially neurological, development of the child over 3 years. This case report documents the power of neuroplasticity, leading to comparably good neurological outcome in an extensive, likely acquired cortical malformation. Further, it emphasises the importance of a thorough prenatal imaging characterisation of malformations of cortical development for optimal prenatal counselling of these cases.

Massive fetomaternal haemorrhage warranting novel use of tandem isovolumetric partial exchange transfusion and therapeutic hypothermia.

A newborn male infant was pale, hypotonic, and had respiratory distress after delivery. Venous cord blood gas revealed a severe metabolic acidosis. His initial examination was consistent with moderate encephalopathy and laboratory testing uncovered severe congenital anaemia (haematocrit 0.127 L/L). He met the clinical criteria for therapeutic hypothermia (TH) and required red blood cell transfusions, but due to the severity of his anaemia, an exchange transfusion was favoured to prevent transfusion-associated circulatory overload. There are no previous reports of these procedures completed in tandem, but the benefits were perceived to outweigh the risks. During the 72 hours of TH, the infant received an isovolumetric partial exchange transfusion and tolerated both treatments without any adverse clinical events.Kleihauer-Betke testing detected a massive chronic fetomaternal haemorrhage with 475 mL (164 mL/kg) of blood. A brain MRI completed prior to discharge was normal. At 6 months of age, he is growing and developing normally.

Endoscopic transabdominal cervical cerclage replacement after recurrent late miscarriage.

Transabdominal cerclage (TAC) is a recognised treatment for recurrent spontaneous late miscarriage or preterm birth due to cervical weakness. This can be performed via an open procedure before and during pregnancy, or a laparoscopic technique preconception. Complications include cerclage failure and suture migration. We present a case highlighting these complications where laparoscopic removal of an open TAC and replacement led to two successful term deliveries. A woman in her thirties with a fibroid uterus, adenomyosis and a history of three spontaneous mid-trimester losses, had an open TAC at 13 weeks of gestation. Preterm premature rupture of the membranes occurred shortly after and at 18 weeks of gestation she underwent surgical evacuation of the uterus. Subsequent hysteroscopy confirmed migration of the cerclage through the cervical canal. We demonstrate the application of endoscopic gynaecological surgery to remove and replace the TAC with two successful term births by Caesarean section in the ensuing pregnancies.

Rare manifestation of hyperreactio luteinalis: when both the mother and baby girl are virilised.

Hyperreactio luteinalis is a benign, pregnancy-related condition with cystic enlargement of the ovaries and elevated androgen. However, only one-third of patients manifest as maternal virilisation and rarely does it cause fetal virilisation. Here, we report a virilised baby girl born to a virilised mother because of hyperreactio luteinalis. This case illustrates our management to maternal and fetal virilisation.

Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.

Aicardi-Goutières syndrome (AGS) induces innate immune activation. It can present with cerebral calcifications and hepatosplenomegaly mimicking congenital infections. The present case report discusses the diagnosis and treatment of a case of fetal cardiomyopathy whose postnatal symptoms resembled TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes and syphilis) infection. The mother had a history of two lost pregnancies due to fetal cardiomyopathy and the same was identified in the current pregnancy. At 34 weeks of gestation, the mother delivered a late preterm male neonate due to intrauterine growth restriction weighing 1590 g with respiratory distress and cardiomyopathy at birth. The neonate had cerebral calcifications, hepatosplenomegaly and thrombocytopenia. As the infant's TORCH IgM titre was negative, pseudo-TORCH syndrome similar to AGS was suspected. Clinical exome sequencing of the parents and fetus identified no genes for hydrops fetalis or fetal cardiomyopathy; however, the AGS TREX1 gene was identified in the neonate, while additional symptoms resembled TORCH infection. The neonate was discharged and has shown improvement with oral baricitinib treatment for the last 9 months.

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging.

The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios.

Neonatal thyrotoxicosis with maternal hypothyroidism.

Neonatal Graves' is uncommon, but a potentially fatal condition caused by transplacental transfer of thyroid stimulating immunoglobulin (TSI). It is seen in 1%-5% of infants born to a mother with Graves' disease. Here, we report a unique case of transient neonatal thyrotoxicosis with positive TSI in a premature neonate born to the mother with primary hypothyroidism. A short course of antithyroid drug treatment leads to significant clinical and biochemical improvement followed by complete recovery.

Uterine necrosis during pregnancy following exploratory laparotomy.

Uterine necrosis is an infrequent event and is most commonly reported as a complication of interventions for postpartum haemorrhage management. Cases of uterine necrosis in pregnancy are rare. The mainstay of treatment for uterine necrosis is hysterectomy, and the data regarding conservative management are limited. A gravida 3, para 2 presented at 33 weeks gestation with ovarian torsion and underwent an exploratory laparotomy with ovarian cystectomy. The surgery was complicated by excess bleeding, which was controlled with the placement of sutures along the uterine body. She had multiple subsequent presentations for severe abdominal pain without clear aetiology. Four weeks after the initial surgery, she underwent caesarean delivery, at which time uterine necrosis was diagnosed. Her uterus was preserved. She received postoperative intravenous antibiotics and was closely observed. She continued to do well 10 months postpartum. In patients with uterine necrosis during pregnancy who are haemodynamically stable, conservative management may be an option.

Caesarean delivery of a breech singleton with eight loops of nuchal cord.

Nuchal cord accidents comprise a third of stillbirths in the third trimester. These are often due to higher order nuchal cords, with more than three loops. In this report, we discuss a case of a gestation complicated by a nuchal cord with eight loops and severe fetal growth restriction, requiring expedited delivery due to non-reassuring fetal heart tones. Our case demonstrates the value of high-quality ultrasound in detecting complex nuchal cords, as well as highlighting the potentially dynamic and unstable fetal status in an affected gestation. Antenatal knowledge of nuchal cord in the setting of non-reassuring fetal status can help guide patient counselling and assist with identifying possible aetiologies. Finally, our case demonstrates that close monitoring and early intervention can prevent potentially catastrophic outcomes.