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Invasive Procedures for Prenatal Diagnosis in Salmaniya Medical Complex in Bahrain: A Retrospective Cross-Sectional Descriptive Study

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Open Journal of Obstetrics and Gynecology 2024年第7期14卷 1046-1059页

作者： Basma Alsayegh Bayan Ahmed Fatema Ahmed Amal Hassani Department of Obstetrics and Gynecology Salmaniya Medical Complex Manama Kingdom of Bahrain

Background: Prenatal diagnosis is the process of evaluating the presence of disease or potential disease in the fetus, this enables families to be better prepared before the birth of the baby. There are non-invasive prenatal diagnosis procedures and invasive prenatal diagnosis procedures. The invasive prenatal diagnosis procedures are CVS (chorionic villus sampling) and amniocentesis. The American College of Obstetricians and Gynecologists states that invasive diagnostic testing should be available to all women, regardless of age or risk. Objective: To determine the indications, outcome and results of diagnostic invasive prenatal procedures. Study setting: The obstetrics and Gynecology Department in Salmaniya Medical Complex in Kingdom of Bahrain. Study design: Retrospective descriptive study. Study subjects and Methods: This retrospective descriptive study was conducted on 175 pregnant women who underwent invasive prenatal procedures (CVS and amniocentesis) between January 2013 and December 2018 at SMC in Kingdom of Bahrain. All medical records of the participants were reviewed and entered the study. According to the implemented procedures, medical records were categorized into two chorionic villus sampling (CVS) and amniocentesis groups. The study subject will include indications of the procedures which are advanced maternal age, hematological disorders, genetic disorders, metabolic disorders, abnormal structural findings in fetal ultrasound and previous child with aneuploidy. In addition, the study will address the complications, outcome and results of procedures. Results: About half of our indications of the procedures were due to hematological disorders (47.6%) followed by abnormal structural findings in fetal ultrasound (30.1%) then genetic disorders (15.7%), metabolic disorders (4.8%) and advanced maternal age (1.8%). Regarding complications of the procedure;threatened miscarriage or loss of pregnancy within 3 weeks was (2.3%), amniotic fluid leakage (0.7%),

关键词： Invasive Procedures Prenatal Diagnosis chorionic villus sampling Amniocentesis

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Outcome of 1355 consecutive transabdominal chorionic villus samplings in 1351 patients

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Chinese Medical Journal 2005年第20期118卷 1675-1681页

作者： LAU Tze Kin LEUNG Tak Yeung FUNG Tak Yuen CHAN Lin Wai Daljit S SAHOTA LEUNG Tse Ngong Fetal Medicine Unit Department of Obstetrics and Gynaecology Prince of Wales Ho spitalChinese University of Hong KongShatinHong Kong SARChina

Background The true risk of choronic villus sampling(CVS)is poorly *** objective of this study was to review the clinical outcome of transabdominal CVS performed in a university teaching unit,with an emphasis on the complication *** A comprehensive audit database was maintained for 1351 pregnant women,including 17 sets ot twin pregnancies,who had a *** and outcome of all CVSs made in the unit between May 1996 and May 2004 were *** CVSs were performed by one of 5 operators using the identical *** All procedures were performed transabdominally.A total of 1355 CVSs were performed because there were 4 dichorionic twin pregnancies which required 2 *** mean gestation at CVS was(11.8+0.7)weeks,and 97.3%of the procedures were performed between 11 and 13 completed *** majority(96.2%)required only 1 puncture to achieve correct needle *** procedure failed to obtain an adequate sample in 4 subjects(0.30%).A total of 1351 chromosomal studies were requested and there was 1 case(0.07%)of culture *** results of chromosomal studies were available within 14 days in 36.7%of the cases and within 21 days in 94.0%.Overall,77 chromosomal abnormalities(5.7%)and 5 cases of thalassemia major were *** outcome was unknown in only 13 singleton subjects(0.96%).In the remaining 1355 fetuses,there were 76 pregnancy terminations(5.56%),10 fetal losses with obvious obstetric causes(0.73%),and 21 potentially procedure-related fetal losses(1.54%).In the last group,the majority had one or more co-existing obstetric *** background fetal loss rate for pregnancies at similar gestational age in the unit was about 0.8%.Therefore,the procedure-related fetal loss rate was estimated to be at the maximum of 0.74%.Conclusions In experienced hands,first trimester transabdominal CVS is an accurate and safe invasive prenatal diagnostic *** should be one of the treatment options available to pregn

关键词： chorionic villus sampling postoperative complication pregnancy outcome

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Prenatal cytogenetic diagnosis study of 2782 cases of high-risk pregnant women

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Chinese Medical Journal 2010年第4期123卷 423-430页

作者： ZHANG Lin ZHANG Xiao-hong LIANG Mei-ying REN Mei-hong Prenatal Diagnosis Center Peking University People's Hospital Beijing 100044 China

Background 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. Methods 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. Results 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）. Conclusions Invasive prenatal diagnostic techniques are feasible tools for confirming fetal chromosomal abnormalities. Abnormal chromosomes detected in one of the parents carrying abnormal chromosome, ultrasoun

关键词： chorionic villus sampling amniocentesis umbilical cord blood collection chromosomal karyotype prenatal diagnosis

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Prenatal Testing or Screening?

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Maternal-Fetal Medicine 2020年第4期2卷 217-222页

作者： Evans Mark I. Evans Shara M. Fetal Medicine Foundation of America New YorkNY 10065USA Comprehensive Genetics New YorkNY 10065USA Department of Obstetrics&Gynecology Icahn School of Medicine at Mt.SinaiNew YorkNY 10029USA Department of Maternal Child Health Gillings School of Public Health University of North Carolina at Chapel HillChapel HillNY 27599USA

Over the past 50 years,the scope and extent of prenatal diagnosis and screening for genetic disorders have improved *** has been a pendulum like swing from testing to screening back and forth as new technologies *** concurrent developments of cell free fetal DNA analysis of maternal blood has dramatically changed patient’s choices towards ***,with the use of array comparative genomic hybridization of fetal DNA that requires diagnostic procedures(chorionic villus sampling and amniocentesis),much more extensive diagnosis can be *** noninvasive methods can replicate what can be done with diagnostic procedures there still will be a"price to be paid"for opting for the non-invasive methods.

关键词： Genetic counseling Prenatal diagnosis chorionic villus sampling Amniocentesis Array comparative genomic hybridization Noninvasive prenatal testing

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