Prenatal Genetic Diagnosis and Origin Analysis of Rare Complete Translocation Trisomy 18 / 中山大学学报(医学科学版)

ObjectiveTo discuss the origin of rare abnormal karyotypes of fetuses with high risk of trisomy 18 revealed by non-invasive prenatal testing （NIPT） and its impact on fertility. MethodsThe cytogenetic and molecular genetic analyses were performed on the abnormal chromosomes of a prenatally diagnosed fetus with rare complete translocation trisomy 18. Using the keywords “translocation trisomy 18” or “trisomy 18 translocation” in both Chinese and English， we searched PubMed， CNKI， SinoMed， WanFang Data， CQ VIP and the Chinese Medicine database. The relevant case series were retrieved and critically appraised. ResultsG-banded karyotype analysis showed that the maternal karyotype was 46，XX，t（9；18）（q31.2；q23） and the fetal karyotype was 47， XN， t （9； 18） （q31.2；q23）mat， +18， which was a rare complete translocation type of trisomy 18. The SNP array revealed the fetus had increased copy number of chromosome 18 and two complete chromosome 18 inherited from the mother with balanced chromosomal translocation. Literature search found two children with complete translocation trisomy 18 reported abroad. Both of them had trisomy 18 phenotype and originated from the balanced translocation between parental chromosome 18 and other chromosomes. ConclusionNIPT gives an effective advance warning of trisomy 18. SNP array not only improves the detection rate of chromosomal abnormalities， but also helps identify the origin. The karyotype is still the gold standard for prenatal diagnosis.

Clinical Characteristics and Outcomes of 80 Pregnant Women after External Cephalic Version / 中山大学学报(医学科学版)

[Objective] To investigate the safety and associated factor of external cephalic version (ECV) in third trimester,and to enrich clinical experience to improve the successful rate and lower cesarean section (CS) rate.[Methods] 80 pregnant women conducting ECV in third trimester in the third affiliated hospital of Sun Yat-sen University from September 2015 to July 2017 were enrolled in our study.Divided to successful group and failing group,we compared the clinical characters and pregnancy outcomes.[Results] Of the 80 pregnancy,48 women (60.0％) succeed with cephalic presentation.Compared to the failing group,the successful group is statistically different in parity,BMI and amniotic fluid depth.In the failing group,all women underwent CS with 3/48 in successful group.No women conducted ECV complicated fetal distress and emergency CS,premature rupture of membranes complicated in 11 (13.8％) cases in all women.[Conclusions] ECV is safe for mother and fetus.Encouraging the suitable pregnancy women to conduct ECV and enhancing clinical skills can improve ECV success rate.

Effect of Hyperbaric Oxygen on Cervical Spinal Cord Injury / 中国康复理论与实践

@#Objective To explore the effects of hyperbaric oxygen on cervical spinal cord injury. Methods 48 postoperative patients with cervical spinal cord injury received hyperbaric oxygen therapy in addition to conventional treatment. Neural function was accessed with International Standards for Neurological Classification of Spinal Cord Injury (American Spinal Injury Association, ASIA) before and after hyperbaric oxygen therapy. Results After hyperbaric oxygen therapy, the total efficiency of patients with course ≤ 30 d was higher than that of patients with course >30 d (P<0.05). The total efficiency of patients accepted more than 3 courses of treatments was higher than that of patients accepted less than 2 courses of treatments (P<0.05). Conclusion Patients with cervical spinal cord injury should receive hyperbaric oxygen therapy for more than 3 courses as soon as possible after surgery.