Fetal Long QT Syndrome Manifested as Atrioventricular Block and Ventricular Tachycardia: A Case Report and a Review of the Literature

Fetal onset of congenital long QT syndrome (LQTS) is a rare manifestation, and prenatal diagnosis is difficult. This report describes a boy who presented with both atrioventricular (AV) block and ventricular tachycardia during the antenatal period. The early postnatal electrocardiogram showed prolongation of the QT interval and AV block, subsequently leading to a polymorphic ventricular tachycardia torsade de pointes. This unique feature of congenital LQTS has a poor outcome, but the boy was successfully treated with beta-blockers and implantation of an automated cardioverter-defibrillator. The intrauterine manifestation of fetal AV block and ventricular tachycardia should raise a high suspicion of congenital LQTS, and the strong association with a malignant clinical course should warrant special evaluation. The literature on the prenatal diagnosis, fetal therapy, and neonatal outcome of this condition also are reviewed.     

Persistent elevation of cell-free fetal DNA levels in maternal plasma after selective laser coagulation of chorionic plate anastomoses in severe midgestational twin-twin transfusion syndrome

OBJECTIVE: This study was undertaken to determine whether laser thermocoagulation for twin-twin transfusion syndrome (TTTS) causes increased cell-free fetal DNA levels in maternal plasma, potentially as a result of placental injury. STUDY DESIGN: We enrolled 34 patients with twin pregnancies complicated by severe TTTS who underwent fetoscopic selective laser ablation of placental vascular anastomoses. Blood samples were drawn before and sequentially after the procedure. Fetal DNA in maternal plasma was quantified by polymerase chain reaction amplification of a Y-chromosome sequence. RESULTS: Compared with baseline, median elevations of fetal DNA levels were 0.8% at 30 minutes ( P = .32), 15.8% at 60 minutes ( P = .1), 179.5% at 24 hours ( P = .003), and 172.9% at 48 hours ( P = .003). Factors associated with increased fetal DNA levels at 24 hours after procedure included longer operation time, higher number of vessels ablated, and subsequent in utero fetal death ( P = .01, .04, and .04, respectively). CONCLUSIONS: Persistent elevation of fetal DNA levels in maternal plasma after laser ablation suggests that circulating fetal DNA could derive from placental injury. Plasma fetal DNA analysis may be an additional prognostic marker for fetal outcome after laser therapy.     

Inverse correlation between maternal weight and second trimester circulating cell-free fetal DNA levels

OBJECTIVE: Clinical applications of the analysis of cell-free fetal DNA in maternal plasma and serum are expanding. However, use of fetal DNA during prenatal screening requires knowledge of variables that might affect its levels in the maternal circulation. We conducted this study to estimate the effect of selected demographic factors on fetal DNA levels in the first and second trimesters of pregnancy. METHODS: We developed a database that included fetal DNA levels and clinical information, such as maternal age, ethnicity, weight, and smoking history. We measured fetal DNA levels in maternal plasma and serum using real-time quantitative polymerase chain reaction amplification of a Y chromosome specific sequence. The fetal DNA data from fresh first trimester plasma and previously frozen second trimester serum samples were analyzed separately. Fetal DNA levels were adjusted according to gestational age and storage time and then analyzed in association with the demographic factors. RESULTS: In the first trimester group, no significant association between maternal age, weight, ethnic background, or smoking and plasma fetal DNA levels was observed. In the second trimester group, a significant inverse correlation between maternal weight and serum fetal DNA level was demonstrated (r = -0.26, P =.007). This was especially prominent when the mothers weighed more than 170 lb (P =.001). Maternal age, ethnicity, and smoking were not significantly associated with the second trimester serum fetal DNA levels. CONCLUSION: Fetal DNA levels are affected by maternal weight in the second trimester. A correction for this effect may be needed in larger-scale studies or for future clinical applications that measure cell-free fetal nucleic acids in maternal circulation.     

Two-stage elevation of cell-free fetal DNA in maternal sera before onset of preeclampsia

Objective

The purpose was to determine whether preeclampsia (PE) is caused by microfragments of syncytial trophoblast shed into the maternal circulation that stimulate an exaggerated inflammatory response.

Study design

A nested case control study was performed within the Calcium for Preeclampsia Prevention trial cohort of healthy nulliparous women. Each preeclampsia case was matched to 1 normotensive control. One hundred twenty pairs were randomly chosen for analysis of serum cell-free fetal DNA (cffDNA), a marker of placental debris, and C-reactive protein (CRP), a marker of inflammation, in all 658 specimens obtained before labor.

Results

At 29 to 41 weeks of gestation, cffDNA concentrations were significantly higher after preeclampsia than before (219 vs 112 genome equivalents [GE]/mL, P<.001). Before preeclampsia, cffDNA in cases exceeded controls at 17 to 28 weeks (36 vs 16 GE/mL, P<.001), but at 29 to 41 weeks, only within 3 weeks before preeclampsia (176 vs 75 GE/mL, P<.001). CRP serum concentrations were neither associated with cffDNA nor elevated before preeclampsia.

Conclusion

Preeclampsia is accompanied by a 2-stage elevation of fetal DNA, but not by elevation of CRP. Elevated cffDNA at 17 to 28 weeks may be due to placental necrosis and apoptosis. Subsequent elevations may reflect impaired DNA elimination. The 2-stage elevation suggests the possibility of measurement of fetal DNA both to screen for preeclampsia and to indicate impending clinical disease.     

Maternal and neonatal outcomes in women with severe pre-eclampsia undergoing cesarean section: a 10-year retrospective study from a single tertiary care center: anesthetic point of view

Objective: This study is aiming to determine an actual incidence and characteristics of complications in cesarean section for severe pre-eclampsia (PE) by analysis of a large cohort from a single tertiary care center according to two choices of anesthesia.

Methods: Electronic medical records of pregnant women complicated with severe PE delivered by cesarean section from January 2002 to December 2011 were retrospectively reviewed. Medical records of their corresponding neonates were also identified and reviewed.

Results: A total of 701 women and 740 neonates (28 twin pairs) were identified. Anesthetic techniques were spinal anesthesia (SA) (88%) and general anesthesia (GA) (12%). Total maternal and neonatal deaths were 0.3% and 1.2%, respectively. Patients in GA group had a higher incidence of coagulopathy, immediate postpartum hemorrhage, intensive care unit admission, renal failure, respiratory complications, and death (p?<?0.05). Neonates born from women in GA group had a higher incidence of lower birth weight, birth asphyxia, prematurity, neonatal intensive care admission, respiratory complications, and death (p?<?0.05).

Conclusion: Spinal anesthesia can be safely administered to severely pre-eclamptic parturients undergoing cesarean section. General anesthesia is associated with more untoward outcomes, as it has been chosen in patients with more severity of the disease.     

Cesarean section: the pediatricians’ views

Cesarean sections (CS) have greatly increased and many reasons are often evoked. Safer anesthetics and surgical procedures have rendered CS a popular choice for both professionals and mothers alike. CS on maternal request, for nonmedical reasons, is the subject of scientific, legal and ethical dispute. We shall address the CS issues, primarily, from the pediatrician’s point of view. The immediate neonatal problems of the more mature neonate are well recognized. For preterm birth, contradictory results on mid- and long-term outcomes do not confirm the earlier reports on neonatal advantages of CS over vaginal delivery; therefore, their mode of delivery should be based on individual circumstances. The intestinal flora of neonates delivered by CS is often deprived of the normal colonization by maternal vulvovaginal and rectal flora. Whether this adverse microbiome will play a role in the late development of multiple morbidities in children and adults is an interesting possibility open to consideration. The consequences of unnecessary CS demands a reflection for all the involved parties and the decision to perform a CS shall, then, be based on the net clinical benefit to all: the mother, the child and the future adult.     

Cell-free fetal DNA levels in maternal plasma after elective first-trimester termination of pregnancy

OBJECTIVE: To determine if first-trimester elective termination of pregnancy affects cell-free fetal DNA (fDNA) levels in maternal plasma. DESIGN: Prospective cohort study. SETTING: Clinical and academic research centers. PATIENT(S): One hundred thirty-four women who underwent first-trimester elective termination procedures. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Real-time polymerase chain reaction (PCR) amplification and measurement of DYS1, a Y-chromosome sequence, was used as a marker of fDNA. RESULT(S): We detected fDNA in pretermination samples from 27 out of 71 patients in the surgical arm, and 29 out of 63 patients in the medical arm. Based on confirmation of male gender in placental tissue, the sensitivity of fDNA detection is 92.6%. We detected fDNA as early as 32 days of gestation, which increased 4.2 genome equivalents/mL/week. In the surgical arm, the mean level of posttermination fDNA, adjusted for the clearance of fDNA in maternal blood, was higher than projected based on an expected increase with gestational age. In the medical arm, six patients had increased fDNA levels up to 11 days following termination. CONCLUSION(S): We found that fDNA can be reliably quantified in the early first trimester; fDNA elevation that occurs shortly after surgical termination may reflect fetomaternal hemorrhage or destruction of trophoblastic villi. Continued elevation of fDNA for several days may occur following medical termination.