Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome / 中华医学遗传学杂志

OBJECTIVE@#To diagnose a fetus with Papillorenal syndrome by prenatal ultrasonography and genetic testing, and to correlate its genotype with phenotype.@*METHODS@#Ultrasound finding of the fetus was reviewed. Muscle sample of the abortus was taken, and genetic variant related to the clinical phenotype was screened by whole exome sequencing (WES). Suspected pathogenic variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasound revealed severe dysplasia of the fetal kidneys and oligohydramnios. WES revealed that the fetus has carried a c.736G>T (p.Glu246Ter) nonsense variant of the PAX2 gene, which was unreported previously. The result of Sanger sequencing was consistent with that of WES. Both parents of the fetus were of the wild-type, suggesting a de novo origin of the fetal variant.@*CONCLUSION@#The novel heterozygous c.736G>T (p.Glu246Ter) variant of the PAX2 gene probably underlay the Papillorenal syndrome in the fetus. Above finding has provided a basis for genetic counseling and clinical decision-making.

Clinical Outcome Analysis of Twin Pregnancies in Women Over the Age of 40 Years / 中国医科大学学报

Objective To examine perinatal complications and outcomes of twin pregnancies in women aged over 40 years.Methods A retrospective study was performed on the clinical data of 3 127 twin pregnancies,managed in 12 national hospitals from January2013-December 2013,to analyze differences in perinatal complications and outcomes between women aged over 40 years,and those aged 35 to ＜40 years and 18 to ＜35 years.Results For twin pregnancies,the incidence of postpartum hemorrhage,abortion,early preterm birth,termination of gestation,very low birth weight infants,mild neonatal asphyxia,and preterm births in women aged over 0 years was significantly higher than in women aged 35 to ＜40 years and 18 to ＜35 years (P ＜ 0.05).Among women aged over 40 years and those aged 35 to ＜40 years,the incidence of gestational hypertension was not significantly higher than in women aged 18 to ＜35 years for twin pregnancies (P ＞ 0.05).Conclusion Women aged over 40 years with twin pregnancies were more likely to develop maternal complications and poor perinatal outcomes.Therefore,twin pregnancies in women aged over 40 years should receive comprehensive perinatal management to extend the gestation and improve the perinatal prognosis.

Prenatal diagnosis and intervention to fetal hydrothorax:five cases analysis / 中华妇产科杂志

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.

Analysis of clinical outcome and impact factors of twin-to-twin transfusion syndrome with anterior placenta treated by fetoscopic laser photocoagulation / 中华妇产科杂志

Objective To analyze the clinical outcome and impact factors of twin-to-twin transfusion syndrome (TTTS) with anterior placenta treated by fetoscopic selective laser coagulation of placental vessels(SLCPV). Methods Ten cases of TTTS with anterior placenta and 8 cases with posterior placenta were treated by SLCPV in Shengjing Hospital from July 2011 to April 2014. Clinical data were analyzed retrospectively. Some cases were at Quintero stageⅡor higher stage, others were at Quintero stageⅠbut with cardiovascular score≥5 according to the scoring system of Children′s Hospital of Philadelphia. The anterior placenta cases were treated by curve fetoscopy and the posterior placenta cases were treated by straight fetoscopy. Results (1) Of all the 18 cases, the mean gestational age at SLCPV was 24.1 weeks (17+5 to 27+4 weeks). There were 2 cases at Quintero stageⅠ, 4 at stageⅡand 12 at stageⅢ. The mean gestational age of anterior placenta cases at SLCPV was 25.2 weeks (22 to 27+4 weeks), with 2 cases at Quintero stageⅠ, 2 cases at stage Ⅱ and 6 at stage Ⅲ;5 cases had preterm prelabour rupture of the membranes (PPROM)and 1 case had maternal intestinal obstruction after the operation;the average operation time was 40 minutes. Of the posterior placenta cases, the mean gestational age at SLCPV was 22.7 weeks (17+5 to 27+4 weeks);2 cases were at Quintero stageⅡand 6 cases at stageⅢ. PPROM happened in one case;one case had maternal enterobacter cloacae septicemia;the average operation time was 28 minutes. All the 18 cases could tolerate the operations. There was no intraoperative complication. (2) One anterior placenta case had maternal intestinal obstruction and miscarriage; and one posterior placenta case had enterobacter cloacae septicemia. Karyotype analyses of the all the twins were normal. (3) 17 cases delivered already, including all the 10 anterior placenta cases and 7 posterior placenta cases. One infant had corpus callosum agenesis, but its co-twin was normal. The average gestational age at delivery for anterior placenta cases was 32.6 weeks (24 to 37+1 weeks), an was 28.2 weeks (25+6 to 36+2 weeks) for posterior placenta cases. The fetuses survival rate was 13/17 (one case was still in pregnancy) for at least one twin, and 10/17 for both twins. Both twins survival rates were 5/10, 5/7 for anterior placenta cases and posterior placenta cases, respectively. At least one twin survival rates were 8/10, 5/7 for the two groups respectively. Conclusion SLCPV is suitable for the treatment of TTTS, no matter the placenta is on the anterior wall or posterior wall. The treatment had good outcomes, but more PPROM happened in the anterior placenta cases, which may be associated with operation time and the range of operation.

Clinical management and perinatal outcome of twin reversed arterial perfusion sequence in different stage / 中华妇产科杂志

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.

Fetal ventriculomegaly: diagnosis using magnetic resonance imaging and its prognosis / 中华妇产科杂志

Objective To evaluate the diagnostic value of magnetic resonance imaging (MRI) on fetal ventriculomegaly identified through prenatal ultrasonography and the outcomes of these newborns were followed up. Methods From March 2006 to July 2008, MRI was performed on 135 pregnant women whose fetuses diagnosed as fetal ventriculomegaly at an average of 32 gestational weeks in Shengjing Hospital Affiliated to China Medical University. Mild ventriculomegaly was defined when the width of unilateral or bilaeral fetal cerebral ventricle triangle was 10-15 mm, moderate ventriculomegaly 16-20 mm and severe ventriculomegaly >20 mm. We introduced the Denver developmental screening test(DDST) to follow-up the mild ventriculomegaly and normal babies, confirmed by MRI, at 6-12 months after birth and a case-control study was conducted. The intelligence and growth of these infants were analyzed. Results (1) Diagnostic rate of fetal ventriculomegaly through MRI: Among the 135 gravidas, 60 (44.4%) showed isolated ventriculomegaly, 5 (3.7%) complicated with ventricular hemorrhage; 12 (8.9%) complicated with agenesis of corpus callosum (ACC) and 2 (1.5%) complicated with cerebellar hypoplasia, while 56 (41.5%) were normal. Seventy-nine cases had fetal ventriculomegaly on MRI and 15.2% (n=12) of them complicated with ACC. (2) Degree of fetal ventriculomegaly on MRI: Among the 60 isolated ventriculomegaly cases, 55 (91.7%) were mild and 5 (8.3%) moderate ones. Among the 5 cases complicated with ventricular hemorrhage, one was mild ventriculomegaly, and 4 moderate or severe cases. Among the 12 cases with ACC, 8(66.7%) were moderate ventriculomegaly and 4 (33.3%) severe cases. The 2 cases with cerebellar hypoplasia were both moderate ventriculomegaly fetuses. (3) Follow-up at 6-12 months after birth : thirty out (case group) of the 55 isolated ventriculomegaly cases, 38 out of the 56 normal babies and 42 babies with normal MRI results were followed up, and the later 80 cases were taken as control. Four infants (13.3%) in the case group and 10 (12.5%) in the control group showed abnormal or suspected results in DDST (P>0.05), the rest babies were all normal. (4) Clinical outcomes of the 79 ventriculomegaly fetuses diagnosed by MRI: thirty mild ventriculomegaly babies and 5 moderate ones were born at term and showed normal at follow ups. However, 7 gravidas were not compliant, 6 pregnancies were terminated, and 12 were last. Three of the 12 cases with ACC continued the pregnancy, and postnatal MRI of the babies showed the same with the prenatal MRI, 8 pregnancies were induced and one was lost. All of the 5 fetuses with ventricufar hemorrhage were induced and the prenatal diagnosis was confirmed by autopsy. One of the 2 fetuses with cerebellar hypoplasia was term delivered and diagnosed as cerebral palsy at the age of 6 months, and the other one was induced. Conclusions MRI is an indispensable complementary diagnostic method for fetal ventriculomegaly diagnosed through ultrasound. The development of intelligence and growth of babies born with mild isolated ventriculomegaly is the same as normal ones.

MRI diagnosis and analysis of 104 cases of fetal ventriculomegaly by ultrasonography / 中华妇产科杂志

Objective To evaluate the diagnostic value of MRI in the cases suspected of ventriculomegaly by prenatal uhrasonography.Methods 104 patients of suspected fetal ventriculomegaly (VM) diagnosed by uhrasonography were included from the Shengjing Hospital,China Medical University from March 2006 to October 2007.All cases were divided into 4 groups based on the standard of Gaglioti:10-12 mm(66 cases),13-15 mm(22 cases),16-20 mm(14 cases),and 21-25 mm(2 cases);they included 75 eases of single intracerebroventricular expansion and 29 eases of double intracerebroventricular expansion.All of them were subjected to MRI scan within 48 h of uhrasonographic examination to determine the prenatal diagnosis by MRI pregnancy outcomes.Results Among the 26 072 cases who received prenatal uhrasonography,104 cases (0.39%) were VM. (1) MRI detected 3 cases (5%) in 10-12 mm group:one ease of cerebellar hypoplasia,vascular malformation,chest and abdominal anomalies each; 5 cases(23%)in 13 -15 mm group:one case of agenesis of corpus callosum (ACC),cerebral hemorrhage,cerebral hemorrhage with cerebral meningocele,cerebral meningocele,intracranial mass meningocele each; 6 cases(43% )in 16 -20 mm group:4 cases of ACC,one case of intraventricular hemorrhage and ACC combined with ventricular hemorrhage each; 2 cases in 21-25 mm group:one case of ACC and intraventricular hemorrhage each.(2) MRI detected 4 eases(5%) among 75 unilateral VM cases and 12 eases (41%) among 29 bilateral VM eases.The differences were significant (P＜0.01).MRI diagnosis rate was 15.38% (16 cases).Follow-up of the outcomes of the pregnancy showed induction of 0labor in 15 cases (14%) all of which were the same as MRI results on autopsy,full-term delivery of 88 cases,of which all the neonates were healthy.Conclusions When the expansion width is above 16 mm or bilateral VM is suspected by ultrasonography,we suggest MRI examination to determine fetal central nervous system disease.