Correlation Between Ultrasonic Structural Malformation and Chromosomal Microarray Analysis / 中国医学影像学杂志

Purpose To discuss the correlation between ultrasonic structural malformation and chromosomal microarray analysis (CMA) to provide a reliable basis for establishment of a prenatal diagnosis process of fetal malformation.Materials and Methods 104 pregnant women with structural malformation,who received prenatal ultrasonic screening in Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University,were subjected to CMA detection.According to the results,they were divided into pathogenic group,Vous group and normal group,and the ultrasonic results and CMA results were compared and analyzed.Results Fifteen cases (14.42％) in the pathogenic group,including 9 cases of fetal aneuploidy,and 6 cases of microdeletion or mirco repetitive fetuses;28 cases (26.92％) in the Vous group and 61 cases (58.65％) in the normal group.There were 12 cases of two or more systems of deformity in the pathogenic group,in which the most common was complex congenital heart disease (9 cases),followed by nasal bone loss (4 cases);in the normal group and Vous group,most were single-system malformation,and the difference among three groups was statistically significant (x2=17.34,P＜0.01).There were 4 cases of pathogenic chromosomal abnormalities in the 17 cases of high risk pregnant women.Conclusion In prenatal counseling,if the fetus is found to have the malformation of two or more systems;the malformation variety contains complex congenital heart disease,nasal bone loss or malformation of other parts;high risk pregnant women combined with fetal structural malformation should be proposed to receive CMA detection to eliminate pathogenic chromosomal abnormalities.

Results of second-trimester prenatal screening using two serum markers for Down's syndrome in 60 931 pregnant women / 中华围产医学杂志

Objective To approach the efficiency of second-trimester prenatal screening using two serum markers for Down's syndrome (DS).Methods Retrospective analysis was conducted on the results of prenatal screening using two serum markers,alpha fetoprotein (AFP) and free beta subunit of human chorionic gonadotropin(free-β-hCG),in 50 cases of DS pregnancy identified among 60 931 pregnant women received prenatal screening from November 1997 to April 2008 in Nanjing Maternal and Child Health Hospital.Results Among the 50 DS cases,the detection rate of DS was 50% (25/50) when taking free-β-hCG≥2.5 MoM as the cut-off,with the positive rate of screening was 6.6%.And the detection rate of DS would be 18.0%(9/25) when taking AFP≤0.5 MoM as the cut-off,with the positive rate of screening was 4.6%.When the risk cut-off value of DS was set at 1/270,the detection rate changed to 52.0%,and the positive rate of screening was 4.7%;and the two figures changed to 62.0% and 5.5%,respectively,when the risk cut-off was set to 1/300.Thirteen DS cases showed the risk value between 1/1000 and 1/300,among which two were monomarker abnormality.Thirteen (26.0%) of the 50 DS fetus were found to have one or two abnormality markers by ultrasound scan,among which one was DS low risk,and the other 12 were DS high risk in serum screening.Conclusions The second-trimester prenatal screening using AFP or free β-hCG for Down's syndrome is effective in identifying DS pregnancy with limited specificity and sensitivity.But the detection rate can be elevated by the combination of these two markers.The second trimester systemic ultrasound scan is not ideal for DS identification,but it can increase the specificity and sensitivity of serum prenatal screening.

Prenatal genetic study of fetuses with congenital heart diseases / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic abnormalities of fetuses with congenital heart diseases (CHD), and to provide guidance for the management of pregnancy and genetic counseling.</p><p><b>METHODS</b>Eighty-one fetuses with CHD detected by fetal echocardiography were analyzed by karyotyping after amniocentesis, cordocentesis or chorionic sampling. Then 22q11.2 deletion/duplication was detected by a competitive fluorescent multiplex short tandem repeat assay in 47 CHD fetuses without chromosomal abnormalities. With fluorescence in situ hybridization (FISH) using LSI dual color DNA probe, the deletion/duplication status was confirmed.</p><p><b>RESULTS</b>Thirty-four of 81 CHD fetuses had chromosomal anomalies, and 1 of the 47 CHD fetuses without chromosomal anomalies had duplication at chromosome 22q11. The incidence of aneuploidy associated CHD was 43.2%. The rate of chromosomal anomalies is higher in the cases associated with extra-cardiac anomalies than in that with isolated CHD (64.5% versus 28.0%). In the 35 fetuses with chromosomal abnormalities, 19 (54.3%) were trisomy 18.</p><p><b>CONCLUSION</b>Chromosomal abnormalities occurred in 43.2% of CHD cases and trisomy 18 is the most common aneuploidy. The likelihood of chromosomal anomaly increases when there is extracardiac involvement. Testing for the 22q11.2 microdeletion/duplication is recommended in all CHD fetuses without chromosomal anomalies. It is important for the further management of pregnancy and genetic counseling.</p>