ABSTRACT
Objective To evaluate the clinical value of prenatal screening by analyzing the second -trimes-ter maternal serum screening results and prognosis .Methods The second-trimester maternal serum screening in-cluding alpha-fetoprotein (AFP) andβ-human chorionic gonadotrophin (β-HCG) was tested by time-resolu-tion immunofluorescence .2T-Risks software was used to evaluate fetal risk of three kinds of defects , such as trisomy 21, trisomy 18 and neural tube defects (NTD).For those of pregnant women with high -risk screening results, am-niotic fluid, umbilical cord blood karyotype analysis or four -dimensional color Doppler ultrasound scan can be rec-ommended to confirm the diagnosis .Results This research included the analysis of 10 668 cases of pregnant meta-phase prenatal screening results .677 cases were in high-risk, which took up 6.35%.Among those 677 cases, 501 cases had high-risk 21-trisomy Syndrome , and 104 cases had high-risk NTD.72 cases with high-risk 18-tri-somy Syndrome had been found , and the percentage of those cases above were 4.70%, 0.97%and 0.67%, respec-tively.As for the 677 follow-up pregnant women with high risks , the results indicated that during those 356 high-risk women, who had performed prenatal diagnosis , 2 cases of 21-trisomy Syndrome, 3 cases of NTD, and 4 cases of structural abnormalities had been found .In addition , there were 19 cases of spontaneous abortion and stillbirth , as well as 10 cases of other abnormalities .There are 40 abnormal cases in total , which took up an abnormal percentage of 5.91%.In those 9 991 follow-up pregnant women with low risks , there are 57 cases (0.57%) presented abnor-mal, in which had 1 cases with 21-trisomy Syndrome, 2 cases with NTD, 3 cases with deformity, 23 cases of spon-taneous abortion and stillbirth and 28 other abnormal cases .Conclusion The second -trimester maternal serum screening plays an important clinical role in the prediction of abnormal fetus and prevention of birth defects .
ABSTRACT
Objective To explore the genetic defects in patients with pulmonary atresia (PA).Methods Twenty-three patients with PA were studied from recent 1 year.There were 15 boys and 8 girls,aged 2 days to 10 years.Among them,there were 3 cases with complete ventricle septum,20 cases with VSD,3 cases without main pulmonary trunk,20 cases with PDA,6 cases with integrated major aorto-pulmonary collateral arteries(MAPCAs),3 cases with integrated right aortic arch,2 cases with integrated extra-cardiac abnormality with the manifestation of facial abnormality,1 case with integrated aberrant right subclavian artery,and 1 case with integrated tracheal bronchus.The chromosomes of the children were routinely analyzed.Negative chromosomes were examined to identify the 22ql 1.2 microdeletion by fluorescence in situ hybridization (FISH) test.Results One case of trisomy syndrome was found.22ql 1.2 microdeletion was found in 3 cases.Among 22q1 1 microdeletion cases,1 case was intact ventricular septum,2 cases were integrated VSD.22q1 1.2 microdeletion was not found in the rest 19 cases.Conclusions Twenty-one trisomy syndrome and Del 22q1 1.2 syndrome may play an important role in the pathogenesis of PA.TBX1 probe can be used to examine 22q1 1.2 microdeletion.Del 22q1 1.2 syndrome was suspected in cases of incorporating aberrant subclavian artery,MAPCAs and severe poor development of pulmonary artery.
ABSTRACT
Atrioventricular septal defect (AVSD) is a common cardiovascular malformation because of atrioventricular septal (lower atrial septum, ventricular septal upper) and the endocardial cushion defect,resulting in abnormal chambers of the heart. At the present, although the embryology, pathophysiology,diagnosis and treatment of the AVSD are clarified, but its precise pathogenesis has still no breakthrough progress.With the wide application of molecular biology and the depth research of molecular genetics, a series of new progress about AVSD has been made in the genetic study, and some genes are confirmed to be related to the occurrence and development of AVSD. The aim of this article is to review and discuss genetic mechanisms and related genes of AVSD, and to further identify the major genes causing AVSD.