RESUMEN
OBJECTIVE@#To report on echocardiographic finding and genetic testing of three fetuses with cardiac rhabdomyoma.@*METHODS@#Clinical data of the three fetuses was collected. High-throughput sequencing was carried out to analyze the whole exomes of the three fetuses. Suspected variants were confirmed by Sanger sequencing.@*RESULTS@#Multiple hyperechoic masses were found in both ventricles of the three fetuses, suggesting the presence of fetal cardiac rhabdomyoma. Genetic testing revealed that fetus 1 carried a heterozygous c.740G>A (p.W247*) variant of the TSC1 gene, fetus 2 carried a previously known heterozygous c.3352C>T (p.Q1118*) variant of the TSC2 gene. Fetus 3 carried a previously known heterozygous c.1579C>T (p.Q527*) variant of the TSC1 gene. None of their parents carried the same variant. Literature review has identified 109 fetuses with relatively complete data. Cardiac rhabdomyomas in ventricles and ventricular septum was reported in 89, and multiple cardiac rhabdomyoma was reported in 79. Out of the 94 cases who underwent genetic testing, 74 have carried variants of the TSC1 or TSC2 genes.@*CONCLUSION@#Fetal cardiac rhabdomyoma may present as multiple hyperechoic intraventricular masses. Most of them are associated with other manifestation of tuberous sclerosis. Such cases may warrant prenatal genetic testing.
RESUMEN
Objective To research the important of prenatal diagnosis and effect of intervention to fetal hydrothorax. Methods The cases of fetal hydrothorax (n=5) were obtained from the Shengjing Hospital,China Medical University between December 2014 and May 2015. All pregnancies were uncomplicated, excluded congenital organic and chromosomal abnormalities during prenatal diagnosis and with a 37 average gestational weeks. The case 1, 2, 4 were unilateral hydrothorax and the case 3, 5 were bilateral. We performed an antenatal thracocentesis to case 1, 2, 3. In case1, the hydrothorax increased rapidly after 5 days, and the patient underwent a cesarean section and ex utero intrapartum treatment (EXIT);in case 2, the fetal heart rate was decreased to 40-50 bpm suddenly during thracocentesis, and we performed an emergent cesarean section and EXIT for the patient; in case 3, the patient underwent thracocentesis and a meanwhile cesarean section and EXIT procedure. We performed a conservative management to case 4, 5, the hydrothorax resolved spontaneously during the pregnancy and after birth, both patients underwent cesarean section. Results All fetuses were survived, the neonates of case 1, 2 and 3 underwent assited mechanical ventilation, thoracic close drainage, then discharged after hydrothorax resolved and feeding tolerance;in case 4, there was no respiratory distress and hospital treatment;in case 5, the neonate underwent assited mechanical ventilation and conservative management, the hydrothorax has resolved gradually. Conclusions The prenatal diagnosis and antenatal intervention (thracocentesis) may play an important role in fetal hydrothorax treatment. In clinical, we should choose different plan according to the gestation weeks and classification of hydrothorax of the patient.
RESUMEN
Objective To discuss the methods and outcomes of twin reversed arterial perfusion sequence in different stage. Methods From August 2012 to December 2013, 11 cases were diagnosed with twin reversed arterial perfusion sequence (TRAP) by 3d color Doppler ultrasound in the Maternal ang Fetal Medicine Center ,Affiliated Shengjing Hospital, China Medical University, including 3 cases in stageⅠa, 7 in stageⅡa and 1 case in stageⅡb. We performed expected therapy to 3 cases in stageⅠa and 4 cases in stageⅡa [1 case (case 9) in stageⅡa developed to stageⅡb and was terminated by emergency cesarean section], radio frequency ablation (RFA) selective reduction to 3 cases in stage Ⅱa, emergency cesarean section to 1 case in stageⅡb. All cases except case 1,4 took cesarean section to terminate pregnancy and would be followed up on the aspect of infant′s growth. Results (1) 3 cases in stageⅠa were monitored by sequential ultrasound examination, all donors grew normally, in which 2 acardias arised spontaneous cessation of flow and were implemented of cesarean section after the normal period of gestation; 1 case suffered premature rupture of membrane and experienced the natural childbirth at 34 gestation weeks plus 5 days. The survived average labor weight was 2 923 g. (2) In the 7 stage Ⅱa cases, 3 cases were implemented of RFA selective reduction, 2 cases survived and the average labor gestation was 35 weeks plus 1 day and average labor weight was 2 050 g;in 3 expected therapy cases, 1 case suffered premature rupture of membrane at 34 gestation weeks plus 5 days and experienced cesarean section; 1 case was observed for 3 weeks and the donor was stillborn; 1 case progressed to stage Ⅱb and experienced cesarean section at 34 gestation weeks plus 5 days;and 1 case was lost of follow up. (3) For 2 cases of stageⅡb cases, one was progressed from stage Ⅱa during expected therapy; the other one had been already in stage Ⅱb since visiting and experimented an emergency cesarean section, but the neonate died of heart failure two days after labor. (4) 7 survived neonates were followed up, all had a normal condition compared to kids of the same age, except one suffering a congenital heart disease, patent ductus arteriosus and atrial septal defect and whose weight (6 kg at 7 months) was lighter. Conclusions We should make the diagnosis of TRAP as early as soon and choose appropriate therapy according to the stage. According to our research, cases in stage Ⅰa can undergo an expected therapy under a sequential ultrasound examination;cases in stageⅡa can undergo a RFA selective reduction to improve the prognosis of the donor, which can make a good perinatal outcome.