Prenatal diagnosis for a pedigree affected with Wolf-Hirschhorn syndrome due to a subtle chromosomal translocation / 中华医学遗传学杂志

OBJECTIVE@#To make molecular diagnosis of an infant affected with severe developmental delay and multiple birth defects, assisting prenatal diagnosis for the second pregnancy.@*METHODS@#Standard G-banded karyotyping was performed for the fetus and his parents. Single nucleotide polymorphism array (SNP array) was used to detect submicroscopic chromosomal aberration. Fluorescence in situ hybridization (FISH) was employed to determine the parental origin of the aberration.@*RESULTS@#Both the proband and the fetus harbored a 5.4 Mb distal 4p deletion and a 6.9 Mb distal 6q duplication. FISH confirmed that the mother has carried a balanced translocation involving 4p and 6q.@*CONCLUSION@#The unbalanced chromosomal aberration in the proband and the fetus were both derived from the mother. Both patients showed a Wolf-Hirschhorn syndrom phenotype and partial phenotype of 6q trisomy. SNP array combined with FISH are essential for the detection of cryptic chromosomal aberrations which may be missed by coventional karyotyping analysis.

Prenatal diagnosis of fetal 1p32p31 microdeletion syndrome: a case report / 中华围产医学杂志

We hereby reported a fetus with abnormal head shape, ventricular septal defect, gallbladder enlargement, low-set ears and local umbilical cord glial edema at 22 and 25 weeks of gestation ultrasound scan. A 15.318 Mb heterozygous microdeletion on chromosome 1p32.1p31.1, arr[GRCh37]1p32.1p31.1(61,279,239-76,597,189)×1, was indentified by chromosomal microarray analysis. The chromosome karyotype of the fetus was 46,XY,del(1)(p32.1p31.1). Therefore, this case was diagnosed as 1p32p31 microdeletion syndrome and proved to be a de novo variation based on routine G-banding analysis and chromosomal microarray analysis of the normal parents. This syndrome might present with abnormalities in the head shape, kidney, bladder and central nervous system. The couple decided to terminate the pregnancy after genetic counseling concerning the possible poor outcomes of the fetus.

Prenatal diagnosis of three cases of fetal skeletal dysplasia resulting from loss of heterozigosity of short stature homeobox gene / 中华围产医学杂志

Objective To analyze the genotype-phenotype correlation in fetal skeletal dysplasia,and to investigate the methods of prenatal diagnosis and genetic counseling.Methods From May 2016 to November 2017,three gravidas whose fetuses were diagnosed with short stature homeobox (SHOX) gene deficiency were recruited from those receiving invasive prenatal diagnosis and single nucleotide polymorphismarray (SNP-array) due to fetal structural abnormalities detected by prenatal ultrasound scan in Shanghai First Maternity and Infant Hospital,Tongji University School of Medicine.Fetus 1 and 3 were singleton pregnancies and fetus 2 was twin pregnancy.Amniotic fluid cells were isolated and analyzed by karyotyping and SNP-array.Peripheral blood samples were collected from their parents and also analyzed by SNP-array.Results All three fetuses were diagnosed with fetal skeletal dysplasia based on second trimester ultrasound findings showing the lengths of femora,humeri,tibiae,fibulae,ulnae and radii length below the 5th percentile of corresponding gestational age.Karyotypes of the three fetuses were normal.SNP-array examination showed that each case had 1 to 2.5 Mb deletion in the pseudoautosomal region of the short arms of sex chromosomes,including SHOX gene.Their skeletal dysplasia were all caused by SHOX haploinsufficiency.Microdeletions of fetus 1 and 3 were inherited from their mothers,while that of fetus 2 was inherited from the father.After genetic counseling,two singleton gravidas decided to terminate their pregnancies and the twin pregnant one underwent selective reduction.Conclusion Prenatal ultrasound,in combination with SNP-array,offers fast and efficient detection of fetal skeletal dysplasia due to SHOX gene deficiency.

Perinatal outcomes of thoraco-amniotic shunting for severe primary fetal hydrothorax / 中华妇产科杂志

Objective To evaluate the safety and perinatal outcomes of thoracoamniotic shunting in the treatment of fetuses with severe primary hydrothorax. Methods 22 cases of suspected severe primary fetal hydrothorax which underwent thoraco-amniotic shunting in Shanghai First Maternity and Infant Hospital,Fetal Medicine Unit and Prenatal Diagnosis Center from January 2012 to December 2017 were analyzed retrospectively. Hydrothorax associated with structural or chromosomal abnormalities, infections and immune fetal hydrops were excluded. Results Totally ,28 shunts were placed in 22 fetuses. The median gestational age at TAS was 31.3 weeks. Preterm membrane rupture within 7 days after the procedure occurred in 9.1％(2/22) cases. Catheter displacement occurred in 18％(4/22) cases. The interval from shunting to delivery was 26.0 days. One fetus ended in induced abortion; 21(95％,21/22) babies were born alive, and their median gestational age at delivery was 34.4 weeks. 62％(13/21)newborns required ventilator supports; 4 neonatal deaths were attributed to pulmonary hypoplasia. The overall perinatal survival rate was 81％(17/21). The perinatal survival rate with hydrops and without hydrops were 10/13 and 7/8 respectively. Conclusion Thoraco-amniotic shunting is a safe procedure for intrauterine therapy and could improve the perinatal outcomes of severe primary fetal hydrothorax.

Comparison of core capacity construction and the supervision of specialist nurses between China and the United States / 中国实用护理杂志

Comparing the definition,classification,quantity,core capacity construction and the supervision mode of Chinese and the United States specialist nurses,there was a gap between them.The training for the specialist nurses in China was at the initial stage.The advanced experience should be learned from America to provide the reference for building the core capacity and supervision mode of the specialist nurses.

A Meta-analysis of risk factors of pulmonary infection in patients with cerebral hemorrhage / 中国实用护理杂志

Objective To assess the risk factors of pulmonary infection in patients with cerebral hemorrhage,and then to provide references for policy-making.Methods Relative literature of crosssectional or case-control studies about risk factors of pulmonary infection in patients with cerebral hemorrhage was searched by computer in data bases such as CNKI,VIP,CBM,WanFang Data and PubMed from January of 1994 to October 2014.Resluts A total of 22 studies (2 case-control studies and 20 crosssectional studies) were brought into the study.The risk factors' OR and its 95％CI was 2.64(2.10-3.33) for over 60 years of age,2.05(1.56-2.69) for smoking history,3.07(2.24-4.19)for those who have diabetes,3.36 (2.40-4.70) for those who have chronic pulmonary diseases,1.54 (1.16-2.05) for those who have heart diseases,2.38 (1.83-3.08) for those who have a history of stroke,5.07 (3.15-8.16) for disorder of consciousness,2.78(2.36-3.27) for amount of bleeding over 30ml,2.85(2.22-3.66) for deviated from midline,2.58 (1.60-4.17) for breaking into ventricle,2.05(1.67-2.51) for high level of fasting blood sugar respectively,and so on.Conclusions Prophylactic measures can be carried out according to the risk factors of pulmonary infection in patients with cerebral hemorrhage,and then to reduce the incidence rate of pulmonary infection.

Prenatal ultrasound diagnosis of persistent right umbilical vein and its complicated abnormalities / 中华围产医学杂志

Objective To investigate the value of prenatal ultrasound in diagnosing fetal persistent right umbilical vein (PRUV) and structural malformations.Methods From April 2007 to August 2011,38 827 pregnant women in Obstetrics and Gynecology Hospital of Fudan University accepted ultrasound examination,among which 109 fetuses were found PRUV.The relation between PRUV and other structural abnormalities was retrospectively analyzed.Results The incidence of PRUV was 0.28％ (109/38 827) including 100 singletons and 9 twins.Among the 109 cases of PRUV confirmed by the prenatal ultrasound diagnosis,95 cases did not complicate with fetal structural abnormality (90 singletons,5 twins),and had normal deliveries with healthy infants.Four infants were tested for their chromosomes and got normal results.The rest 14 fetuses with PRUV suffered from fetal structural abnormality (12.8％,14/109),among which,10 fetus (71.4％,10/14) suffered from cardiovascular abnormality such as endocrinal cushion defeats,double outlet right ventricle,single atrium and single ventricle.Nine pregnant women accepted artificial terminations.Only one of the 14 fetuses had chromosome test and got normal result.Conclusions Once PRUV was diagnosed by prenatal ultrasound,it is suggested to check the fetus carefully,especially the cardiovascular system.