Aim: Monitor the performance of the amniocentesis procedure for prenatal diagnosis and particularly the acquisition of results (time to get, success in getting them).
Materials And Methods: This is a retrospective review of case notes of all pregnant women undergone amniocentesis in our department during the period 2002-2005. Two main operators performed the procedure, using 22 gauze needle usually and 20 gauze should longer needle was needed. Sevendy three patients undergone amniocentesis. The reasons for having this procedure were: increased risk for Down syndrome in 68% (50/73), maternal request in 24% (18/73), suspicious ultrasound findings in 4% (3/73) and family history in 3% (2/73). Maternal age ranged from 20 to 45 years and the gestation time that amniocentesis was performed was 15 to 23 weeks. Fluorescence in situ hybridization (FISH) and culture were used in order to obtain karyotype results.
Results: In 92% (67/73) of cases one needle pass was needed. FISH and culture were performed in 96% (70/73) of cases, FISH only in 3% (2/73) and culture only in 1% (1/73). The chromosome results were normal in 93% (68/73) of cases, Down's syndrome in 4% (3/73) and Edwards syndrome in 3% (2/73). The outcome of pregnancies was: live births in 89% (65/73), stillbirths at 32 weeks and 35 weeks in 3% (2/73), miscarriages in 1% (1/73 at 19 weeks, 3 weeks after the amniocentesis), terminations in 7% (5/73, due to chromosomal abnormalities). Sixty one women delivered at term (84%) and 6 women (8%) delivered preterm.
Conclusion: The post amniocentesis rate of miscarriage is calculated at 1% in our centre. FISH analysis can relieve stress of couples by reducing the waiting time for results.
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Prenatal Diagnostic Center, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China.
Objective: To explore the value of applying multiple genetic testing techniques for the prenatal diagnosis of Turner syndrome fetuses with complex mosaic small supernumerary marker chromosomes (sSMC).
Methods: Chromosomal karyotypes of amniotic fluid samples from 5 030 pregnant women who had undergone amniocentesis at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University from January to December 2022 were retrospectively reviewed. Three fetuses with complex mosaicism fetuses (carrying 2 types of sSMC) were selected as the study subjects.
Iran J Public Health
April 2024
Medical Genetics Department, Linyi Women and Children's Health Care Hospital, Linyi 276000, China.
Background: We aimed to compare the difference of the chromosomal abnormalities using karyotype analysis and chromosomal microarray (CMA) as well as to evaluate their application in different prenatal diagnosis indications.
Methods: Overall, 3007 pregnant women with prenatal diagnosis indications from Medical Genetics Department of Linyi Women and Children's Health Care Hospital, who underwent standard G-banded karyotype analysis and CMA, were enrolled from 2018-2022. G-banded karyotype analysis and CMA were undergone simultaneously.
Cureus
September 2024
Department of Obstetrics and Gynecology, Faculty of Medicine, Fukuoka University, Fukuoka, JPN.
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare group of disorders that affects women at all stages of life. These disorders can elicit symptoms such as menstrual molimina and dysmenorrhea during puberty; miscarriage, premature birth, and infertility during childbearing age; and purulent discharge during menopause and old age. In this study, we report our experience with OHVIRA syndrome, which was diagnosed during childbearing age when the patient showed signs of infection during pregnancy.
View Article and Find Full Text PDFCureus
April 2024
Department of Midwifery, School of Health and Care Sciences, University of West Attica, Athens, GRC.
Sci Rep
January 2024
Department of Neurology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China.
Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype-phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal the pathogenic CNVs (pCNVs) that were associated with fetal CNS anomalies. We enrolled 5,460 pregnant women with different high-risk factors who had undergone CMA.
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