Analysis of clinical phenotype and pathogenic variant of a fetus with Cornelia de Lange syndrome type II / 中华医学遗传学杂志

OBJECTIVE@#To explore the prenatal ultrasonographic features and genetic basis for an abortus suspected for type II Cornelia de Lange syndrome (CdLS2).@*METHODS@#A fetus diagnosed with CdLS2 at the Shengjing Hospital Affiliated to China Medical University on September 3, 2019 was selected as the study subject. Clinical data of the fetus and family history was collected. Following induced labor, whole exome sequencing was carried out on the abortus. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#Prenatal ultrasonography (33 weeks of pregnancy) has revealed multiple anomalies in the fetus, which included slightly widened cavity of septum pellucidum, blurred corpus callosum, slightly reduced frontal lobe volume, thin cortex, fusion of lateral ventricles, polyhydramnios, small stomach bubble, and digestive tract atresia. Whole exome sequencing has revealed a heterozygous c.2076delA (p.Lys692Asnfs*27) frameshifting variant in the SMC1A gene, which was found in neither parent and was rated as pathogenic based on the guidelines of American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The CdLS2 in this fetus may be attributed to the c.2076delA variant of the SMC1A gene. Above finding has provided a basis for genetic counseling and assessment of reproductive risk for this family.

Intrapartum operation on fetuses with birth defects and its outcome / 中华妇产科杂志

Objective To discuss the value of intrapartum operation in management of birth defects and the prognosis. Methods From August 2008 to November 2009, 11 fetuses were identified with birth defects through 3D color Doppler ultrasound and confirmed by MRI and fetal karyotype in the Maternal Fetal Medicine Center, Affiliated Shengjing Hospital, China Medical University including three lymphangiomas,two congenital diaphragmatic hernias (CDH), one sacrococcygeal teratoma, three omphalocele and two gastroschisi. All the above identified birth defects were indications for surgery. All fetuses were born abdominally and received intrapartum operations, including three intrapartum fetal operations with placental infusion (two repairs of CDH, one sacrococcygeal teratoma resection), six ex-utero intrapartum treatment (EXIT; two repairs of omphalocele, two repairs of gastroschisi, two lymphangioma resection) and two surgeries in house (one omphalocele repair and one lymphangioma resection). Both the mothers and fetuses were regularly followed up. Results ( 1 ) Operations: the average operating time for the three intrapartum fetal operations was 89 minites, 5.5 minites for the six EXIT, during which EXIT was performed first,followed by blocking the umbilical circulation and neonatal surgery, and 37 minites for the two surgeries in house. All neonates survived except for one death from severe CDH at 3.5 hours after the operation. The average blood loss for cesarean section and fetal operation was 275 ml. All mothers recovered soon without fever or infection and were discharged three to five days after the operation. (2) Follow-ups: the ten survived neonates were followed up at 1 - 18 mouths at the pediatric clinics and all were growing and developing normally except for one baby with gastroschisi suffered from enteral torsion and feeding intolerance showed lower weight than babies at the same age, but catched up to normal at four months old after posture therapy. One baby with mild CDH developed pulmonary infection at two months after operation with 1/4 pneumothorax on chest X-ray, and were hospitalized for two weeks. At six months old, patent ductus arteriosus was diagnosed in the same baby and chest X-ray was normal. The baby with omphalocele was complicated with ventricular septal defect before operation and the cardiac function was normal during followups for one year. The baby with sacrococcygeal teratoma was reported to have no automatic micturition, but recovered to normal at one month of age. Conclusion Babies with certain birth defects can be managed through intrapartum operation with better outcomes.

The Maternal Prognosis after Intrapartum Fetal Operation Performation / 中国医科大学学报

Objective To investigate the feasibility,security,indication and prophylactic measures of postpartum hemorrhage during the fetalintrapartum operation by analyze the maternal prognosis after intrapartum fetal operation(IFO) performed.Methods We performed a retrospective evaluation of 10 cases that has been performed intrapartum fetal operation(IFO group,n=10) successfully between August 2008 and October 2009 at Department of Obstetrics and Gynecology,Shengjing Hospital,China Medical University.Healthy pregnant women(n=10) were chosen as control group,who received Caesarean section for refusing to vaginal delivery.Between the two groups,we compared the indexes including blood lose during the operation and 24 hours post-operation,the hemoglobin level pre-operation and 24 hours post-operation,the involution of uterus,the puerperal infection,and the follow-up at 42 days post-operation.Results Good involution,no primary and secondary postpartum hemorrhage and no puerperal infection were found in both of the 2 groups.Intra-operation,24 hours post-operation and the total volumes of blood lose,the hemoglobin level before operation,24 hours post-operation and 42 days post-operation had no statistic significant difference between the IFO group and control group(P>0.05).No significant difference was found in the operation time between IFO group and the control group(66.40±53.40 minutes and 34.50±4.97 minutes,respectively.Intra-operation,24 hours post-operation and the total volume of blood lose had no relation to the maternal age and gestational weeks(P>0.05).The blood lose of intra-operation in IFO group had positive linear correlation to the operation time.(Pearson relation coefficient R=0.458,.P=0.021).The linear recurrence equation was:the volumes of blood lose intra-operation(ml)=172.68+1.342x(operation time).Conclusion IFO was safe to the mother.It did not affect the involution of uterus and could not increase the blood lose of postpartum and the puerperal infection morbidity.Through the effective measures of preventing postpartum hemorrhage,the postpartum blood lose of the patients that performed intrapartum fetal operation could be no more than that of the patients that had normal Caesarean section.Improving the technique of the intrapartum fetus operation and shortening the operation time are important to prevent postpartum hemorrhage.