Connective tissue disorders and dermatological disorders in pregnancy

Connective tissue disorders, particularly those that are autoimmune, are being seen with increasing frequency in the pregnant population. The care of these patients in pregnancy ranges from the routine to the complicated, with some of the conditions posing significant risks both to the mother and the fetus.Dermatological conditions are often encountered in pregnancy, and again range from the benign to those resulting in serious fetal and maternal morbidity, with a number being specific to pregnancy.An important issue for both groups of disorders is the use of particular medications during pregnancy. Those with pre-existing disease should ideally be counselled pre-pregnancy to optimize treatment and adjust medication as appropriate. During pregnancy, frequency of review and degree of treatment will depend on the severity of the condition, and may require multidisciplinary team involvement to optimize both maternal and fetal outcomes.     

Hypertension in pregnancy

Hypertension is a common complication of pregnancy and remains a major cause of maternal and perinatal morbidity and mortality worldwide. Hypertensive disorders range from mild gestational hypertension to severe pre-eclampsia which remains one of the leading causes of maternal death in the UK. Although there have been major advances in understanding the pathophysiology of the disease in recent years, interventions to prevent hypertensive disorders in pregnancy have had disappointing results. Due to their unpredictable nature and potential poor outcomes, patients with hypertensive disorders of pregnancy warrant cautious care with consultant obstetric, neonatal and anaesthetic involvement to optimize both maternal and fetal outcomes.     

Common Sleep Disorders: Management Strategies and Pregnancy Outcomes

Sleep disorders, prevalent in industrialized countries, are associated with adverse health outcomes such as hypertension, diabetes, and obesity. Disturbed sleep during pregnancy is frequently overlooked by health care providers, yet recent studies suggest there is an association between sleep disorders and adverse pregnancy outcomes, including preeclampsia, elevated serum glucose, depression, prolonged labor, and cesarean birth. Growing evidence indicates that the recognition and management of prenatal sleep disorders may minimize adverse pregnancy outcomes and improve maternal and fetal well‐being. This focused review of prenatal sleep disturbance literature suggests there are 3 main sleep disorders of interest: breathing‐related sleep disorders (ie, habitual snoring and obstructive sleep apnea), restless legs syndrome, and insomnia. These sleep disorders are common in pregnancy and have maternal and fetal consequences if left untreated. This article describes sleep disorders of pregnancy, elucidates their relationship with maternal and neonatal outcomes, and presents current evidence regarding diagnostic and management strategies.     

Connective tissue and dermatological conditions in pregnancy

Connective tissue disorders are common in women of reproductive age, and hence are seen frequently in maternal medicine clinics. The disorders, and their treatments, may have significant adverse effects on fertility, the developing fetus, and on pregnancy outcomes. In turn pregnancy may affect the natural course of the illness. Pre-pregnancy planning and multidisciplinary management are vital to optimise maternal and fetal outcomes. This review will cover a general approach and specific management points of common autoimmune and genetic conditions.Alterations in the maternal immune system affect the disease course of pre-existing skin conditions during pregnancy, and pharmacotherapy may be limited due to effects on the fetus. Some dermatological conditions arise de novo during pregnancy. Women may present to maternity services directly; therefore obstetricians must be able to diagnose, investigate and initiate management of pregnancy dermatoses, with input from dermatologists where available.     

Thyroid disorders and other endocrinological disorders in pregnancy

Endocrine disorders are commonly encountered in pregnancy. To optimize pregnancy outcome, it is essential to understand the physiology underlying these conditions. Clinicians should be aware of which investigations are required for diagnosis and monitoring during pregnancy as well as current guidance on which treatments are safe to use. The most common endocrine disorder encountered in pregnancy is diabetes, followed by hypo and hyperthyroidism. Rarer endocrine disorders including pituitary dysfunction, adrenal and parathyroid disease are as important to be aware of due to the potential for significant maternal and fetal morbidity or mortality if not diagnosed or managed appropriately. Over recent years awareness of the potential adverse effects of vitamin D deficiency has driven the guidance for vitamin D supplementation for pregnant and lactating women. This review focuses on the physiology and current management of thyroid dysfunction and the rarer endocrine disorders in pregnancy, and includes current guidance on vitamin D supplementation.     

Pituitary and adrenal disorders complicating pregnancy

PURPOSE OF REVIEW: Confidential enquiries of maternal deaths in the UK for 1997-1999 revealed that the number of indirect deaths from medical conditions exacerbated by pregnancy was greater than deaths from conditions directly caused by pregnancy. Indirect maternal deaths accounted for 36% of all deaths. Although neoplastic disorders of the pituitary and adrenal glands are very rare during pregnancy, they can be potentially fatal. The rarity of these disorders may pose difficulty in formulating an optimum plan of management. Biochemical tests that can be performed in the non-pregnant state may be of little value during pregnancy. The presence of a fetus may also influence the type and timing of intervention. RECENT FINDINGS: A few case reports have been reported in the literature, but unfortunately no large series to develop guidelines or protocols. However, endoscopic surgical procedures have recently been used in their management with good outcomes. New drugs such as octreotide and lanreotide are increasingly being used during pregnancy. Although too soon to assess the safety of these new treatments, results so far have been very encouraging. SUMMARY: Awareness of these potentially fatal neoplastic disorders of the pituitary and adrenal glands, coupled with early diagnosis and appropriate treatment, may help improve maternal and fetal outcomes. Advances in imaging techniques and endoscopic procedures are also likely to change clinical practice. Various new treatment options are being reported in the literature, but they are not supported by randomized, controlled trials. Further research is needed to determine their safety and efficacy during pregnancy.     

Thyroid and other endocrine disorders in pregnancy

Thyroid disorders are common endocrine problems encountered in pregnancy. To optimize pregnancy outcomes it is essential to understand the effects and treatments of both hyper- and hypo-thyroidism. Pituitary disease is not uncommon in pregnancy. Other endocrine pathologies are much rarer in pregnancy, often because of high levels of subfertility; they are often associated with significant maternal or fetal morbidity and even mortality if not recognized or treated adequately. This review summarizes the important consequences of thyroid and other endocrine diseases in pregnancy.     

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

OBJECTIVES: Maternal plasma and serum are being used to detect fetal DNA by PCR in order to determine certain conditions such as fetal gender and RhD without invasive procedures. Because of the presence of maternal DNA in plasma, these approaches are limited to paternally inherited disorders or those de novo present in the fetus. We have assessed the possibility of performing the detection of a single-gene disorder such as a fetal paternally inherited Cystic Fibrosis mutation (Q890X) in maternal plasma. METHODS: The analysis was performed at 13 weeks of gestation using DNA extracted from maternal plasma. We used a PCR amplification of the Q890X mutation and a posterior restriction analysis of the PCR product. RESULTS: We were able to detect the presence of the mutation and thus the fetal condition of being a carrier of the paternal mutation. CONCLUSIONS: We have made evident the possibility of detecting an inherited paternal mutation in a non-invasive way at the 13t(hr) weeks of pregnancy. This methodology could be very useful in cases of paternally inherited dominant disorders. The technical improvements in fetal DNA detection and analysis might lead to the development of new applications in the non-invasive prenatal diagnosis field.     

13例妊娠合并Graves病的临床分析

目的 分析Graves病治疗后妊娠时机及其母儿预后。方法 采用回顾性分析的方法,将13例妊娠前诊断为Graves病患者,按妊娠期间是否服用抗甲状腺药物分两组:甲组:妊娠期未服用抗甲状腺药物;乙组:妊娠期使用了抗甲状腺药物。对比研究其母儿合并症及并发症。结果 甲、乙两组妊娠前甲亢病程无差异,甲组停药至此次妊娠间隔明显短于乙组,乙组早产率,产后出血率及小于胎龄儿发生率明显高于甲组(P<0.05)。结论 Graves病在病情稳定后即可妊娠,妊娠后需严密监测母体及胎儿甲状腺功能;对于应用内基硫嘧啶治疗后需用甲状腺素片部分替代的孕妇.其胎儿甲状腺功能情况需严密监测。     

Prenatal diagnosis and management of bleeding disorders with fetal blood sampling

The technique of fetal blood sampling for prenatal diagnosis has been shown to be both feasible and safe. The availability of fetal blood for direct evaluation has changed our attitude about the problems of both hereditary and acquired immune fetal bleeding disorders. We can continue with the classic approach and use fetal blood sampling for those conditions in which termination may be recommended, but we can also investigate less severe disorders in which the diagnosis allows us to plan the management of the pregnancy and minimize intrapartum and neonatal complications. We report our experience in prenatal diagnosis and management of 103 cases of hereditary and 18 cases of acquired immune bleeding disorders. We have developed specific management plans depending on the disorder under investigation, the severity of the condition in the fetus, and parental wishes. We have performed in utero transfusions of platelets and factor concentrate where appropriate. Efficacy of maternal therapy for fetal conditions can be directly assessed during gestation. Mode of delivery is determined by obstetric conditions and fetal status, directly assessed after appropriate therapy. Closer surveillance of the fetus by fetal blood sampling gives precise information on which to base clinical decisions to provide optimal maternal and fetal outcome.     

Anticoagulants in pregnancy

Thromboembolic disorders are still a serious problem in pregnancy and anticoagulants have an important part to play in both treatment and prevention. Warfarin is the most convenient drug to give but can cause maternal and fetal bleeding problems, especially during late pregnancy and delivery. There are also small risks of embryopathy from warfarin in early pregnancy but these may have been overstated. Heparin, which has to be given parenterally, does not cross the placental barrier but can still cause bleeding problems in pregnancy. Full intravenous heparin is only suitable for short-term use, and subcutaneous heparin has been introduced for long-term therapy. This regimen is a useful advance but long-term use still has problems of bruising and maternal bone demineralization. The standard treatment of acute thromboembolic events in pregnancy is continuous intravenous heparin followed by either subcutaneous heparin or warfarin, the latter being changed at 36 weeks gestation. In the prophylaxis of thromboembolism, the trend is towards a more selective approach, anticoagulants being given during pregnancy to those at highest risk and during labour and the puerperium to all with a previous history of thromboembolism. Anticoagulants during pregnancy are necessary in patients with artificial heart valves and, because subcutaneous heparin is not sufficient, warfarin should be used until 36 weeks followed by continuous intravenous heparin until delivery. No method of anticoagulation during pregnancy is entirely free of risk and all management policies must be based on an estimate of risk-benefit ratio in individual patients.     

Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant?

Early prenatal diagnosis of fetal sex is necessary to optimize pregnancy management in families known to be at risk of some heritable disorders. The demonstration of cell-free fetal DNA (cffDNA) in the mother's blood has made it possible to identify Y chromosome sequences in maternal blood and to determine fetal sex noninvasively, during the first trimester. This procedure can significantly reduce the number of invasive procedures for women with fetuses at risk of sex-linked diseases and optimize the management of these pregnancies. Fetal sex can be diagnosed by ultrasound with the same sensitivity and specificity, but later in pregnancy.     

The Fascinating and Complex Role of the Placenta in Pregnancy and Fetal Well‐being

Existing evidence implicates the placenta as the origin of some common pregnancy complications. Moreover, some maternal conditions, such as inadequate nutrition, diabetes, and obesity, are known to adversely affect placental function, with subsequent negative impact on the fetus and newborn. The placenta may also contribute to fetal programming with health consequences into adulthood, such as cardiovascular, metabolic, and mental health disorders. There is evidence that altered placental development, specifically impaired trophoblast invasion and spiral artery remodeling in the first trimester, is the origin of preeclampsia. Prenatal care providers who understand the relationships between placental health and maternal‐newborn health can better inform and guide women to optimize health early in pregnancy and prior to conception. This article reviews the current understanding of placental function; placental contributions to normal fetal brain development and timing of birth; and impact of maternal nutrition, obesity, and diabetes on the placenta.     

Adrenocortical disorders in pregnancy

Adrenocortical disorders in pregnancy are rare, but unrecognized of them are associated with higher maternal and fetal morbidity. The diagnosis is more complicated because of physiologic changes hormones and frequently lacking normative datas during pregnancy. Therefore increased attention could allow early diagnosis and treatment, that improve prognosis for both the mother and fetus.     

The diagnosis and management of hemoglobinopathies during pregnancy

Patients with hemoglobinopathies can be at risk for significant maternal and fetal morbidity during pregnancy. This is especially true for those gravidas with SCD or certain thalassemia disorders. With intensive management, pregnancy outcome for these women has improved dramatically, and approximates that of the general population. Criteria for diagnosis for many of these conditions are well established. Appropriate therapeutic interventions are more controversial, but, regardless, emphasize the need for a heightened awareness of these disorders and their potential complications.     

Hypertension in pregnancy

Hypertensive disorders of pregnancy remain a common complication of pregnancy and a major cause of maternal and perinatal morbidity and mortality worldwide. Hypertensive disorders range from mild gestational hypertension to early onset pre-eclampsia which remains a leading cause of maternal death worldwide. Although there have been major advances in understanding the pathophysiology of the disease in recent years, interventions to screen for and prevent hypertensive disorders of pregnancy have had disappointing results. Due to their unpredictable nature and potential poor outcomes, patients with hypertensive disorders of pregnancy warrant cautious care including consultant obstetric, neonatal and anaesthetic involvement to optimise both maternal and fetal outcomes.     

Drugs for obstetric conditions

For many reasons, including the fear of fetal anomaly, the recognition of pregnancy being a normal physiological process and maternal choice, few drugs are prescribed and used during pregnancy. Nevertheless, there are certain common obstetric conditions that are associated with significant maternal and perinatal morbidity and mortality where drugs play an important and necessary part in treatment. These conditions include termination of pregnancy, threatened preterm labour, induction of labour and post-partum haemorrhage. This chapter deals with the role of drug therapy in these obstetric scenarios. A large amount of obstetric clinical trial research has been dedicated to the management of these conditions.     

Drugs in pregnancy. Drugs for obstetric conditions.

For many reasons, including the fear of fetal anomaly, the recognition of pregnancy being a normal physiological process and maternal choice, few drugs are prescribed and used during pregnancy. Nevertheless, there are certain common obstetric conditions that are associated with significant maternal and perinatal morbidity and mortality where drugs play an important and necessary part in treatment. These conditions include termination of pregnancy, threatened preterm labour, induction of labour and post-partum haemorrhage. This chapter deals with the role of drug therapy in these obstetric scenarios. A large amount of obstetric clinical trial research has been dedicated to the management of these conditions.     

Anorexia nervosa during pregnancy: an unusual association

We report the case of a pregnancy associated with severe restricting anorexia nervosa in a 33-year-old patient who weighed 41kg for 1.61m at conception. She continued to lose weight during pregnancy and she gave birth to an eutrophic child by cesarean section at 34 weeks of amenorrhea. Because of complications induced by the chronic food restriction, anorectic pregnant women should be viewed as being at high risk and also monitored closely both during and after pregnancy to optimize maternal and fetal outcomes.     

Pulmonary arterial hypertension in pregnancy

Pulmonary hypertension is a medical condition characterized by elevated pulmonary arterial pressure and secondary right heart failure. Pulmonary arterial hypertension is a subset of pulmonary hypertension, which is characterized by an underlying disorder of the pulmonary arterial vasculature. Pulmonary hypertension can also occur secondarily to structural cardiac disease, autoimmune disorders, and toxic exposures. Although pregnancies affected by pulmonary hypertension and pulmonary arterial hypertension are rare, the pathophysiology exacerbated by pregnancy confers both high maternal and fetal mortality and morbidity. In light of new treatment modalities and the use of a multidisciplinary approach to care, maternal outcomes may be improving.