Research progress in prenatal diagnosis of fetal nuchal transparent layer thickening / 中国医师杂志

Numerous clinical practices and case studies have found that thickening of the nuchal transparent layer (NT) in fetuses is not only related to chromosomal diseases, but also closely related to adverse pregnancy outcomes such as chromosomal microdeletion/microduplication syndrome, fetal structural abnormalities, certain genetic syndromes, and intrauterine fetal death. With the introduction of new genetic testing techniques, for fetuses with NT thickening detected by ultrasound, the genetic causes of NT thickening in fetuses can be identified at the prenatal single gene level, accurately assessing fetal condition and prognosis, and providing a theoretical basis for couples to have another child. In order to further clarify the clinical significance and corresponding diagnostic pathways of fetal NT thickening in prenatal diagnosis, this article reviews the progress of fetal NT thickening in prenatal diagnosis in domestic and foreign literature.

Clinical features and genetic analysis of two fetuses with ring chromosome 21 mosaicism / 中华医学遗传学杂志

OBJECTIVE@#To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms.@*METHODS@#Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents.@*RESULTS@#Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3.@*CONCLUSION@#The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.

Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*METHODS@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*RESULTS@#The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*CONCLUSION@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*Methods@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*Results@#The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*Conclusion@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.

Clinical application of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To verify the reliability of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control for clinical testing.</p><p><b>METHODS</b>Thirty-five patients, 61 first-degree relatives, 61 healthy controls and 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe amplification (MLPA) were tested with Roche LightCycler 480 and Bio-Rad CFX96 (TM) real-time PCR machines for relative quantification of copy number of SMN1 exon 7.</p><p><b>RESULTS</b>Genotyping detected by relative quantitative real-time PCR were consistent with the results of MLPA. Both types of real-time PCR machines could accurately distinguish different SMN1 copy numbers despite certain systematic differences between the two platforms.</p><p><b>CONCLUSION</b>The reliability of real-time PCR assay for detecting SMA depends on quality control. Standard database generated with known SMN1 copy number variations should be established for different instruments.</p>

Fetal aneuploidy detected by multiplex ligation-dependent probe amplification (MLPA) / 中华围产医学杂志

Objective To investigate the role of muhiplex ligation-dependent probe amplification(MLPA) in identifying fetal aneuploidy of chromosomes 13,18,21,X,and Y. Methods From June 2007 to December 2008,263 samples(prenatal diagnosis group),including amniotic or umbilical cord blood from pregnant women who required prenatal diagnosis,were processed in parallel by MLPA and conventional karyotype to detect fetal aneuploidy.Another 26 samples(fetal death group).ineluding retained abortion and fetal death,were also processed bv MLPA. Results Five cases of 21-trisomy,4 eases of 18-trisomy,1 case of 13-trisomy and 3 cases of 45,X were identified among the prenatal diagnosis group by MLPA,and the results were consistent with karyotype.Two cases of 45,X and 1 case of 18-trisomy were identified among the retained abortion and fetal death group. Conclusions MLPA is a rapid,efficient,simple,reliable and economical technique in detecting most common chromosomal aneuploidies and have important clinical value.

Application of extracorporeal shock wave therapy in orthopedic trauma / 中国矫形外科杂志

It has been over two decades from the discovery of extracorporeal shock wave(ESW).The therapy of ESW has been proved effective in improving fracture healing,and has been developed quickly both in the choice of indications and in the medical equipments research.The status quo of ESW research,application in orthpedic trauma and treatment mechanism are summarized in this paper.Successful cases are reviewd in treating post-traumatic nonunion,renovation of artificial joints,and traumatic osteonecrosis of the femoral head.Common complications and its preventive measures are given.Detailed description of ESW operating principles and selection of working parameters are also described,with the expectation of wider range of clinical applications of ESW.

Interlocking intramedullary nails to treat defective nonunion of femoral shaft / 中华创伤骨科杂志

objective To analyze the causes of defective nonunion of femoral shaft and to evaluate interlocking intramedullary nails in treatment of shortened limb deformity following nonunion of femoral shaft. Methods 12 patients with shortened limb deformity following nonunion of femoral shaft were treated with autograft of ilium to fill up the defects and fixation by interlocking intramedullary nails. The patients were followed up for an average of 20 months. Results All the 12 patients healed by first intention after an average of 22 months. The limbs were lengthened averagely by 3.2cm. No failure occurred due to bent or broken major nails or intramedullary nails. Conclusions The main cause of shortened limb deformity following femoral shaft nonunion is bone resorption due to unreliable fixation. Interlocking intramedullary nails are an ideal device for shortened limb deformity following femoral shaft nonunion, though the union process is slow. In bone graft, care should be taken to avoid the complication of bone defect and weight bearing should be carried out some time later.

Review of the results of different operative procedures for old acromioclavicular dislocation / 中华骨科杂志

Objective To compare the results of different operative methods for old acromioclavicular dislocation. Methods Forty three patients with old acromioclavicular dislocation were treated with three different operative methods: 1)open reduction plus Kirschner wire fixation (9 cases); 2)open reduction plus reconstruction of acromioclavicular ligament (14 cases) and 3)open reduction plus modified Dewar s operation (20 cases). After surgery, the subjective symptoms of the arm, muscular contraction power, function of the shoulder joint and space of acromioclavicular joint in 43 cases were followed up for an average 4.8 years. Results The excellent results following three operative methods were seen in 33％ , 50％ and 74％ respectively. There was no significant difference between Kirschner wire fixation and reconstruction of acromioclavicular ligament (P > 0.05). Modified Dewar's operation was better compared with Kirschner wire fixation and reconstruction of acromioclavicular ligament (P< 0.05). Conclusion A satisfactory surgical procedure for treatment of old acromioclavicular dislocation should accomplish the following points: removal of scar tissue and intra articular cartilaginous fragments, reconstruction of joint stability and effective internal fixation until complete healing of the ligament structures.

Effect of Pre-pregnancy Body Mass Index and Maternal Weight Gain on Pregnancy Outcome / 中华围产医学杂志

Objective To investigate the effect of pre pregnancy body mass index and maternal weight gain on pregnancy outcome. Methods The data of 3225 cases of single term birth primigravidae were collected from Guangzhou Maternity and Infant Hospital from June 1998 to June 1999. All of the cases were divided into three groups according to pre pregnancy body mass index (BMI): under weight group (BMI0.05). 2 Neonatal birth weight had a positive lineal correlation with the maternal weight gain in the three groups (calculated coefficient r were 0.596, 0.328 and 0.249, both of the P value were less than 0.01). 3 The incidence of pregnancy induced hypertension (PIH) increased significantly when maternal weight gained≥18 kg in the under weight and the ideal weight groups ( P