Prenatal diagnosis of long QT syndrome using magnetocardiography: a case report and review of the literature

OBJECTIVES: To investigate the usefulness of magnetocardiography (MCG) in the prenatal diagnosis of fetal long QT syndrome. METHODS: Fetal MCG was recorded in a case of fetal long QT syndrome suspected in utero. The literature on the prenatal diagnosis of fetal long QT syndrome was also reviewed. RESULTS: The MCG was performed at 36 weeks' gestation because sustained fetal bradycardia of 110-120 bpm was detected by cardiotocography. The 64-channel MCG revealed a prolonged fetal corrected QT-interval of 0.57 s. The postnatal electrocardiogram coincided with prenatal MCG. CONCLUSION: An accumulation of cases of prenatally diagnosed long QT syndrome using MCG indicates that MCG may be the most reliable tool for the prenatal diagnosis of long QT syndrome.     

Prenatal diagnosis of long QT syndrome using fetal magnetocardiography.

We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful in the prenatal diagnosis of congenital cardiac disease with abnormal ECG findings.     

Fetal sinus bradycardia and the long QT syndrome

OBJECTIVE: Recent evidence in literature shows that the long QT syndrome accounts for a fraction of the sudden infant death syndrome. Newborn infants with prolongation of the Q-T interval often show sinus bradycardia, which led us to test whether children who were diagnosed with long QT syndrome also show sinus bradycardia in the cardiotocogram before birth. STUDY DESIGN: We identified 18 children who were born from singleton pregnancies at or near term in whom long QT syndrome (corrected QT interval, >0.440 second) was diagnosed after birth or in childhood. Cardiograms during pregnancy and delivery were available from 17 of the 18 children. RESULTS: The cardiotocogram showed persistent fetal sinus bradycardia (baseline heart rate permanently below 120 beats/min) in 12 of 17 fetuses (71%) with long QT syndrome. Two fetuses had additional intermittent tachyarrhythmias. CONCLUSION: Sinus bradycardia in the cardiotocogram during delivery or in pregnancy may indicate long QT syndrome in the fetus. Postnatal electrocardiography should be performed in these children to rule out or confirm a prolongation of the Q-T interval.     

Outcome for fetuses with prenatally detected congenital heart disease and cardiac arrhythmias in Taiwan.

BACKGROUND/PURPOSE: Outcome for fetuses with prenatally detected congenital heart disease (CHD) and/or cardiac arrhythmias is important for prenatal counseling and perinatal management; however, there exists little literature regarding the outcome for CHD diagnosed in utero in Taiwan. Therefore, we attempted to investigate the outcome for fetuses with CHD and/or cardiac arrhythmias diagnosed prenatally at a tertiary care medical center in Taiwan. METHODS: Between January 1995 and December 2000, 339 patients referred to the National Taiwan University Hospital for fetal echocardiography were included in this study. Medical records were reviewed retrospectively to determine the salient clinical characteristics for all fetuses. RESULTS: CHD was found in 103 fetuses. Gestational age at diagnosis ranged from 17 to 40 weeks; in 37 cases (35.9%) the diagnosis was made before 24 weeks. Mean gestational age at diagnosis was 27.8 weeks. Of the 103 cases, 15 fetuses (14.6%) had major extra cardiac malformations and 15 fetuses (14.6%) had chromosomal abnormalities (five had both) and 30 pregnancies (29.1%) were terminated. Of the remaining 73 pregnancies, three (4.1%) of the fetuses died in utero and 28 (38.4%) postnatally, with 42 (57.5%) surviving. The mortality rates were both 60% in cases with extracardiac or chromosomal anomalies. Arrhythmias were identified in 25, and two pregnancies involving hydrops fetalis were terminated. Of the remaining 23 continued pregnancies, two (8.7%) with long QT syndrome expired postnatally. CONCLUSION: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.     

Fetus with long QT syndrome manifested by tachyarrhythmia: a case report.

We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagnosed. Retrospective analysis of the videotape showing fetal cardiac movement revealed that atrio-ventricular dissociation was present prenatally and thus, the fetal tachyarrhythmia was due to ventricular tachycardia. To our knowledge, there are few reports of a fetus with the long QT syndrome who exhibited ventricular tachycardia in utero. In the presence of unexplained fetal tachyarrhythmia, long QT syndrome should be considered as a possible underlying cause disorder. The presence of atrio-ventricular dissociation may be useful in prenatal diagnosis of long QT syndrome.     

Hypertension in pregnancy.

Pregnancies complicated by hypertension require a well-formulated management plan. Women with chronic hypertension should be evaluated prior to pregnancy. At onset of pregnancy, they should be classified into low-risk and high-risk groups. The majority of pregnant women identified as low-risk hypertensives will have good perinatal outcome without the use of antihypertensive drugs. In general, antihypertensive medications should be reserved for those considered as having high-risk hypertension. In either case, all these women should have close follow-up of maternal and fetal conditions throughout pregnancy. All women with diagnosed preeclampsia should be hospitalized at the time of diagnosis for evaluation of maternal and fetal well-being. Subsequent management will then depend on gestational age and the severity of the disease process. An individualized management plan and a referral to a tertiary care center will improve maternal and perinatal outcome in those women who are remote from term and in those with the HELLP syndrome.     

Conduction system disease in fetuses evaluated for irregular cardiac rhythm

OBJECTIVES: To determine the prevalence of 1st and 2nd degree AV block in fetuses with an irregular cardiac rhythm, and to summarize outcome of these pregnancies. Background: The diagnosis of irregular cardiac rhythm or 'skipped beats' includes isolated ectopy that resolves spontaneously. Recently, Doppler measurements of the 'mechanical' PR interval have been shown to identify AV conduction disease prenatally. Prenatal therapy of these conduction abnormalities may limit the progression to more advanced disease either in utero or after birth. METHODS: A retrospective review was performed of fetuses evaluated between 1996 and 2004 with the findings of irregular cardiac rhythm. 1st or 2nd degree AV block was diagnosed on Doppler and M-mode recordings, and confirmed using either fetal magnetocardiography (fMCG) or postnatal 12-lead ECG. Dexamethasone was administered to 4 mothers with abnormal fetal AV conduction in the setting of anti-Ro/anti-La antibodies. RESULTS: Of 702 fetuses initially referred for arrhythmia, 306 had an irregular rhythm. Eight (2.6%) had intermittent 1st or 2nd degree AV block confirmed by fMCG and/or postnatal 12-lead ECG. AV block was presumed idiopathic in 2, associated with congenital long QT syndrome in 2 or with clinically unsuspected maternal anti-Ro or anti-La antibodies in 4. During the intrauterine period there was no progression to complete AV block and all were born alive at 34-40 weeks of gestation. CONCLUSION: A small but clinically significant population of fetuses with irregular rhythm will have 1st or 2nd degree AV block. Transplacental therapy may limit the intrauterine progression to more advanced disease.     

Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes

OBJECTIVE: The study was designed to evaluate whether double positive maternal serum screening results for Down syndrome and open neural tube defects indicate an increased risk of adverse perinatal outcome. STUDY DESIGN: A retrospective case-control study was conducted. In a cohort of 170,394 women who underwent maternal serum triple screening in Ontario, Canada, between October 1995 and September 1998, 189 women received positive screening results for both Down syndrome and neural tube defects. Each case was matched to 5 control subjects who had negative screening results for test center, maternal age, and specimen date. The risks for adverse perinatal outcomes were compared. RESULTS: Women with double-positive screening results had significantly higher risks of having fetuses with structural abnormalities (odds ratio, 14.5) and chromosomal anomalies (odds ratio, 36.3). They also had higher risks of having preeclampsia (odds ratio, 6.7), small-for-gestational age (odds ratio, 9.7), preterm delivery (odds ratio, 5.9), miscarriage, and intrauterine fetal death (odds ratio, 11.8). CONCLUSION: Double-positive maternal serum screening results are associated with fetal structural and chromosomal abnormalities and/or adverse pregnancy outcomes. Close fetal and maternal surveillance are indicated when such pregnancies are identified.     

9例多胎妊娠合并胎儿染色体异常患者的产前诊断和治疗

目的探讨多胎妊娠合并胎儿染色体异常的产前诊断方法及选择性减胎术定位方法。 方法选取2012年1月至2013年12月就诊于广州医科大学附属第三医院9例多胎妊娠合并胎儿染色体异常患者的临床资料,采用回顾性研究方法对其产前诊断方法、染色体异常情况、选择性减胎术的方法及妊娠结局进行分析。 结果9例患者中3例为三胎妊娠,6例为双胎妊娠。(1)产前诊断：①超声检查：9例患者早孕期行超声检查,均提示存在胎儿颈项透明层(nuchal translucency, NT)增厚,孕中期超声检查提示有6例患者存在胎儿结构异常,包括颈部囊肿、心脏异常、外生殖器畸形、足内翻、全身水肿等;②染色体检查：5例胎儿21-三体综合征,1例Turner综合征,1例染色体微缺失,1例染色体重复,1例双胎染色体异常。(2)治疗及妊娠结局：9例患者中7例患者行选择性减胎术治疗,1例流产,3例早产(新生儿均存在并发症),3例足月分娩(新生儿均未见异常);2例患者拒绝减胎,1例于孕中期自然流产,1例于孕35^＋周剖宫产分娩(1胎儿为21-三体综合征,另一胎儿为健康儿)。 结论多胎妊娠应注重早孕期染色体筛查,确诊宫内胎儿染色体异常的患者可在超声引导下行选择性减胎术治疗。     

Perinatal mortality and neonatal morbidity rates among twin pairs at different gestational ages: optimal delivery timing at 37 to 38 weeks' gestation

OBJECTIVE: The aim of this study was to determine the gestational age at delivery associated with the lowest rates of perinatal mortality, respiratory distress syndrome, and long hospital stays among twins, with pair rates used to account for both infants in each twin pregnancy. STUDY DESIGN: We conducted a population-based retrospective study that analyzed linked birth certificates, fetal and infant death certificates, and hospital discharge data for 8150 twin pairs born in Washington State during 1987 through 1997. The chi2 or Fisher exact test was used to assess the statistical significance. RESULTS: The nadirs of perinatal mortality rate, respiratory distress syndrome incidence, and long hospital stay rate were seen at delivery dates of 39, 40, and 38 weeks' gestation, respectively. Restriction to pairs delivered vaginally without the induction of labor revealed that the perinatal mortality rate was lowest for delivery at 37 weeks' gestation, the gestational age at which the highest numbers of such spontaneously timed pairs were born. CONCLUSION: Induction of labor should be routinely considered for twins at 37 to 38 weeks' gestation.     

Magnetocardiography--a possible supplementary method for early detection of fetal distress in high-risk pregnancies

Ever since the first report on fetal magnetocardiography by Kariniemi in 1974 numerous studies have examined cardiac activity in healthy fetuses using this technique. Recently there has been an increase in reports on the identification of fetal pathological states, in particular in the diagnosis of fetal arrhythmias, using magnetocardiography. Other possible applications of this non-invasive method include the assessment of intrauterine growth retardation and fetal stress. In a patient with gestational hypertension and asymmetric growth retardation without pathological ultrasound findings, fetal magnetocardiography showed a reduced beat-to-beat heart rate variability indicating signs of fetal stress. On the day following the magnetocardiographic recording, fetal Doppler ultrasonography findings indicated an incipient brain sparing effect. The fetal growth retardation was reflected in the duration of the fetal cardiac time intervals. We conclude that fetal magnetocardiography non-invasively enables the timely identification of pathological fetal conditions.     

Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects

Two siblings with Pena-Shokeir syndrome are described. This syndrome consists of polyhydramnios, intrauterine growth retardation, short umbilical cord, perinatal death, facial abnormalities, limb abnormalities including arthrogryposis, and lethal pulmonary hypoplasia. The mode of inheritance is most likely autosomal recessive. Prenatal diagnosis was made in the second pregnancy with ultrasound performed at 26 weeks' gestation. The roles of fetal akinesia and fetal apnea in the production of the various manifestations of the syndrome are detailed, and the possibility of early prenatal diagnosis is considered.     

Validation of the Quintero staging system for twin-twin transfusion syndrome

OBJECTIVE: To validate an established staging system for twin-twin transfusion syndrome. METHODS: Prospective observational study in a tertiary referral fetal medicine center of 52 consecutive cases of twin-twin transfusion syndrome. Each pregnancy was assessed longitudinally for a variety of prognostic factors including fetal biometry, amniotic fluid volume, arterial and venous Doppler sonogram abnormalities, and the presence of hydrops. Data were used to determine stage at diagnosis and first treatment, and worst stage throughout pregnancy. Perinatal outcome was assessed by stage. Management comprised serial amnioreduction, septostomy, selective reduction, or delivery, alone or in combination. RESULTS: Median gestation at presentation and first treatment were both 21 weeks (range 14-34 and 15-34), and at delivery it was 29 weeks (range 16-40). Sixty-three percent of pregnancies (33 of 52) were at least stage III at presentation. Forty-five percent of pregnancies (22 of 49) progressed to a more advanced stage. Overall survival was 47% (47 of 100), with no difference between donor and recipient fetuses (40% [20 of 50] versus 54% [27 of 50] [chi(2) P =.5]). Survival rates were 58% (15 of 26), 60% (six of ten), 42% (20 of 48), 43% (six of 14), and 0% (none of two) for stages I-V, respectively, with no significant influence of stage at presentation on survival. Survival was poorer where stage increased, versus decreased (27% [12 of 44] versus 94% [17 of 18] chi(2) P <.001). Kaplan-Meier survival curves indicated that staging at presentation identified pregnancies at greater risk of earlier rather than later gestational perinatal loss. CONCLUSION: The Quintero staging system did not distinguish good from bad outcome at presentation, and thus should be used with caution in guiding initial management of twin-twin transfusion syndrome. However, prognosis was influenced by a change in stage, and pregnancies progressing to higher stage disease were at increased risk of earlier perinatal loss. Staging may thus be more useful in monitoring disease progression.     

Perinatal outcome of fetus with isolated congenital second degree atrioventricular block without maternal anti-SSA/Ro-SSB/La antibodies

OBJECTIVE: We determined the perinatal outcomes of fetuses with isolated congenital second degree atrioventricular block detected in utero and born to mothers seronegative for anti-SSA/Ro-SSB/La antibodies. METHODS: Isolated second degree atrioventricular block was defined as second degree atrioventricular block detected in utero without the accompanying structural cardiac anomaly, tachyarrhythmia, non-conducted premature atrial beats or long QT syndrome. We review our own cases and search from Medline using keywords such as atrioventricular block, arrhythmia, bradycardia and congenital to collect cases of congenital isolated second degree atrioventricular block. RESULTS: Two cases were from our institution and five cases from a Medline search; in total seven cases of isolated second degree atrioventricular block without maternal anti-SSA/Ro-SSB/La antibodies were analyzed. Six of the seven fetal arrhythmias reverted to sinus rhythm by delivery and did not recur during the follow-up period. The prognosis of the fetus with isolated second degree atrioventricular block without maternal anti-SSA/Ro-SSB/La antibodies is better than that of the fetus with maternal anti-SSA/Ro-SSB/La antibodies or the fetus of congenital long QT syndrome with second degree atrioventricular block detected in utero. CONCLUSION: The fetus with isolated congenital second degree atrioventricular block carries a good prognosis in the absence of maternal anti-SSA/Ro-SSB/La antibodies.     

Sectio bei bekannter kindlicher Fehlbildung

Prenatal detection of organic abnormalities demands the exclusion of associated abnormalities, syndromes, and other conspicuous appearances. Fetal caryotyping should usually be made available, since lethal chromosomal disorders can affect birth management (for example waiving cesarean section). Also possibly affecting the management are preferred place of birth, as in a perinatal center, and procedural planning (e.g. induced labor, elective cesarean section to avoid a postnatal transfer, optimal planning of neonatal surgical and interventional care). The decisions on time and method of childbirth finally also involve the wishes and psychic condition of the mother. In most fetuses with brain, cardiac, intrathoracal, intra-abdominal, urogenital, and skeletal abnormalities, primary cesarean section is not required and conventional rules apply. In case of fetal arrhythmia the ability to monitor (as with pulsoximetry) can be decisive. Although elective cesarean provides no significant long-term advantage to fetuses with gastroschisis, omphalocele, or spina bifida, it might however be chosen for logistic reasons, preference of delivery date, increased probability of emergency cesarean section, and risk of laceration. The mode of delivery also depends on size and localization of fetal tumors, as these can bleed or hinder delivery. In case of lethal syndromologic disorders, vaginal birth with informed consent, without fetal monitoring, and waiving emergency cesarean section should be made available.     

The pregnancy and delivery course in patients with reproductive tract anomalies

OBJECTIVES: The goal of our study was to analyse the course of pregnancy and delivery in women with reproductive tract anomalies. MATERIAL AND METHODS: We retrospectively analyzed the pregnancy and delivery course of 16 patients with previously diagnosed reproductive tract anomalies. The control group constisted of 200 healthy pregnant women. All patients were hospitalized in our department between January 1st 2001 and 31st May 2005. RESULTS: In the study group preterm delivery and abnornal fetal lie were more common. The incidence of cesarean sections (81%) was also statistically higher in the study group. CONCLUSIONS: The course of pregnancy and delivery in women with previous diagnosis of specific reproductive tract anomalies is more likely complicated by several obstetrical pathologies. The pregnant women with this a diagnosis should be considered as a group of high risk pregnancy and perinatal intensive care procedures should be carried out.     

Identification of fetal growth abnormalities in diabetes mellitus

Gestational diabetes complicates 3% to 5% of all pregnancies. Shoulder dystocia and fetal injuries are associated with macrosomia, a complication often encountered in diabetic pregnancies. The route of delivery is often planned in advance and based on estimated fetal weight. Fetuses of diabetic mothers are prone to macrosomia due to increased subcutaneous adipose tissue deposits, and perinatal complications are more frequent in these fetuses. For this reason, particular effort should be directed toward the diagnosis of fetal growth abnormalities in fetuses of diabetic mothers. There are numerous formulas for estimating fetal weight, and they are all error prone. An effort should be made to follow these high-risk pregnancies in a longitudinal fashion to detect any developing growth abnormality as early as possible. Whether macrosomia or intrauterine growth restriction, early detection and careful planning of mode and time of delivery is the foundation of successful lowering of perinatal morbidity and mortality.     

Aggressive Therapie des HELLP-Syndroms

The HELLP syndrome is a severe and life-threatening complication of pre-eclampsia. Its management has been controversial, some authors recommending a conservative approach for induction of pulmonary maturity in the fetus when the pregnancy has not reached the 32nd (34th) week while the majority recommend immediate delivery by caesarean section in the case of an unfavourable cervix, regardless of gestational age. Aggressive management means early recognition of the condition by laboratory screening methods on admission and immediate delivery once the diagnosis has been confirmed. Patients with the HELLP syndrome should be treated in a perinatal centre. The high maternal mortality (3%) and morbidity (12.5–65%) and also the high perinatal mortality (22%) are due to unpredictable complications and the development of disseminated intravascular coagulation (DIC). It has been shown that the frequency of DIC increases significantly with lengthening time interval between diagnosis and delivery. As there are no reliable clinical or laboratory parameters that can be used to predict the course and prognosis of the disease, the outcome of the HELLP syndrome is not calculable. A review of the literature published since 1990 clearly shows that aggressive management of the HELLP syndrome is associated with a significant reduction in maternal and fetal mortality.     

双胎之一胎死宫内的诊治

随着促排卵技术和辅助生殖技术的发展，多胎妊娠发生率逐年增多。与单胎妊娠相比，多胎妊娠围产儿病死率更高。双胎之一胎死宫内属于双胎妊娠的严重并发症，一胎死亡后会对存活胎儿有潜在、长期的影响，可引起存活胎儿死亡、神经系统损伤、早产及相关后遗症等，因此，孕期应加强母儿监护。及时诊断和处理是改善围产儿结局的关键。     

妊娠合并长QT间期综合征的研究进展

长QT间期综合征（long QT syndrome,LQTS）是一种由基因突变导致离子通道结构或功能异常的遗传性心脏疾病,心电图以QT间期延长及T波改变为特征,易发生心悸、晕厥、心律失常、心脏骤停甚至猝死等。LQTS患者临床最常见的基因亚型为LQT1型、LQT2型和LQT3型,不同基因亚型的LQTS在突变基因、触发因素甚至心电图改变上均有差异,明确患者基因亚型,有助于临床诊断、治疗及对心脏事件发生的预防。有效预防心脏事件发生对LQTS患者是最重要的措施之一;合并LQTS孕产妇在妊娠、产褥期将经历激素水平、血流动力学改变等一系列生理性变化,均可能影响LQTS相关心脏事件的发生风险;其临床管理也不同于非LQTS孕产妇,有必要了解其发病机制、诊断标准、治疗方案及围生期管理的研究进展。