Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Prenatal diagnoses are extremely advantageous for pregnant women with high-risk indicators and can help prevent the birth of malformed infants. However, no large-scale statistical study analyzing the correlation between fetal chromosome disorders and abnormal indicators during pregnancy has been done in China. The objectives of this study were to diagnose and analyze fetal chromosome abnormalities, determine the feasibility of the various prenatal test methods and establish diagnostic guidelines for the early, middle, and late trimesters.</p><p><b>METHODS</b>From January 2004 to May 2009, 2782 pregnant women at high-risk underwent prenatal diagnoses. Categorized data expressed as either actual counts or percentages were analyzed by the chi-square or Fisher's exact test. Chorionic villus sampling was performed in the early-trimester (10 - 12 weeks of gestation), amniocentesis in mid-trimester (16 - 28 weeks of gestation), and umbilical cord blood collection in mid- or late-trimester (16 - 37 weeks of gestation). In 51 cases either autopsy samples from intrauterine fetal deaths or placental tissues from aborted fetuses were tested.</p><p><b>RESULTS</b>Chromosomal abnormalities were observed in 3.99% (111/2782) of the samples. Overall, the success rate of cytogenetic analysis for high-risk pregnancy groups was 98.17% (2731/2782). It was significantly less successful when used to analyze data from the chorionic villus sampling compared with that from amniocentesis and umbilical cord blood (P = 0.000). Abnormal chromosome carriers had the highest percentage of abnormal chromosomes (67.86%) when compared with chromosomal abnormalities in patients with ultra-sonographic "soft markers" (11.81%), advanced maternal age (4.51%) and those who had positive serum screening results (P = 0.000).</p><p><b>CONCLUSIONS</b>Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasound soft markers, advanced maternal age or positive serum screening results were associated with a higher frequency of fetal genetic diseases.</p>

Ehlers-Danlos syndrome type IV. Anesthetic Considerations. Case Report

This report describes the anesthetic management of a patient with Ehlers-Danlos syndrome type IV. This is one of the rare genetic disorder which can present both in emergency and as a scheduled surgical case

Prenatal diagnosis and treatment of fetal choroid plexus cysts / 中华妇产科杂志

Objective To discuss the clinical management and significance of the prenatal diagnosis of Fetal Choroid Plexus Cysts(CPC).Methods From May 2004 to March 2007,55 cases of fetal CPC diagnosed by B-ultrasound during second trimester were prospectively studied.Each case was studied regarding fetal chromosome karyotype,disappearance weeks of the cyst,the clinical outcome and follow-up results respectively.Result The cases were diagnosed during 16-25 gestational weeks.The diameters of the cysts varied from 0.2 cm to 2.4 cm.There were 25 cases of bilateral cysts and 30 cases of unilateral or 50 cases of isolated CPC and 5 cases of complicated CPC.The cysts of all cases who continued pregnancy disappeared before 28 weeks.Fetal chromosome karyotypes were obtained in 50 cases.Among them,two cases were 18-trisomy,and one case was 21-trisomy.Five cases were terminated pregnancy because of abnormal chromosome karyotype or malformation during second trimester.One neonate was diagnosed as ventricular septal defect among 50 cases of follow up.Among these six cases,three were from advanced-age pregnant women,five cases were with abnormal fetal structure and five cases were with the diameter of bilateral or unilateral cysts more than 1.0 cm.Conclusion(1)Fetal CPC can be diagnosed during second trimester,and the majority disappear before 28 gestational weeks.(2)High risk factors for fetal abnormal chromosome karyotype may be:advanced-age pregnant women,abnormal structure of fetus,and the diameter of bilateral or unilateral cyst more than 1.0 cm.It is suggested that fetal CPC with the high risks should receive fetal chromosome karyotype test during pregnancy.