Amniocentesis (Total 4424 Papers Found)

OBJECTIVE To present an update of the use of colchicine in patients with familial Mediterranean fever (FMF) and other rheumatic and nonrheumatic diseases. DATA SOURCES Published studies on colchicine retrieved from MEDLINE searches from 1987 to 1997 and reports presented at national and international meetings. STUDIES SELECTION AND EXTRACTION: All studies were reviewed by the authors. Reports addressing the topics of colchicine pharmacokinetics, biological effects, indications for use, and sid ...
OBJECTIVES To assess the implementation of antenatal screening for Down's syndrome in practice, using individual risk estimates based on maternal age and the three serum markers: alpha fetoprotein, unconjugated oestriol, and human chorionic gonadotrophin. DESIGN Demonstration project of Down's syndrome screening; women with a risk estimate at term of 1 in 250 or greater were classified as "screen positive" and offered diagnostic amniocentesis. SETTING Hospital and community antenatal clinics ...
When amniocentesis reveals a mosaic karyotype and the baby presents with multiple malformations, an analysis of the baby's peripheral blood typically reveals a mosaic karyotype. We present a boy who was prenatally diagnosed by amniocentesis as having trisomy 9 mosaicisim but who had normal G-banding results on postnatal blood karyotyping; the patient also exhibited multiple malformations, including a diaphragmatic hernia, arthrogryposis, undescended testes, and characteristic facies. Because of ...
In humans, the influence of prenatal sex hormones on the fetal brain and subsequent postnatal development has had limited study because of the apparent inaccessibility of hormone levels in normal fetuses. We propose that amniotic fluid obtained via midtrimester amniocentesis can be assayed for fetal hormone levels during the period thought to be important for sexual differentiation of the brain. Amniotic fluid samples from midgestation (N = 70) were assayed for levels of testosterone and follicl ...
One thousand mouse embryos were collected over a period of 6 weeks and randomly assigned to either amniotic fluid aspirated during routine amniocentesis from normal 16 weeks pregnant patients or Earle's medium. The embryos were cultured for 72 hours at 37 degrees C in 5% carbon dioxide in air. Osmolarity, pH, partial arterial carbon dioxide pressure and HCO3- were checked before culture and again at the end of culture. Embryos were assessed according to the stage of development, namely degenerat ...
A prospective comparison of ultrasound-directed second-trimester genetic amniocentesis to blind amniocentesis showed a significant reduction in the incidence of both bloody taps and failed amniocentesis. The incidence of other parameters, such as fetal outcome, failed culture of amniotic fluid fibroblasts and spontaneous abortion, was similar. These data support the use of amniocentesis under ultrasound control as a routine component of prenatal genetic diagnosis. ...
Objectives: Our aim was to evaluate the indications, methods and results of prenatal diagnostic invasive procedures in a 5 years period. To identify which indications for invasive procedures are more predictable. Methods: This study includes 654 patients who were underwent fetal invasive prenatal diagnostic procedures for karyotyping between August 2011 and December 2015. Patients were classified into four groups according to the indications for invasive testing. Group 1; abnormal screening test ...
OBJECTIVE To describe the sonographic characteristics of fetuses with trisomy 21. DESIGN A prospective descriptive analysis. SETTING Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS Pregnancies at risk of trisomy 21 between 14-27 weeks' gestation. RESULTS Thirty-six fetuses with subsequently proven trisomy 21 were prenatally evaluated by ultrasound in the second trimester. The main indications for detailed u ...
In order to screen for fetal neural tube defects and chromosome abnormalities, amniocentesis was carried out in 334 women with insulin-dependent diabetes mellitus (IDDM) between 1979 and 1987. Two cases (0.6%; 95% confidence limits 0.1-2.2%) of fetal chromosome abnormality were found: one case of Klinefelter's syndrome and one case of de novo translocation. This is comparable to the overall incidence of chromosome abnormality found at birth and is also comparable to the incidence of fetal chromo ...
On the basis of our experience with 1314 prospective diagnoses for neural tube defects, we continue to rely on amniotic fluid AFD as the primary and most reliable indicator. The problem of fetal blood contamination has to be tackled in a quantitative manner, and an attempt made to estimate the likely contribution from fetal serum based on measurements of the proportion of fetal erythrocytes in the mixture. We also recommend estimation of the macrophage proportion at 18 hours in the cultured amni ...
OBJECTIVE To estimate an institution's specific fetal loss rate after a second-trimester genetic amniocentesis. METHODS This is a retrospective cohort study using our prenatal diagnosis database for all pregnant women presenting for care between 1990 and 2006. We compared the fetal loss rate in women who underwent amniocentesis between 15 and 22 weeks of gestation with those women who did not have any invasive procedure and had a live fetus documented on ultrasound examination between 15 and 2 ...
BACKGROUND Until the publication of the Serum Urine and Ultrasound Screening Study (SURUSS) report, it was difficult to compare the different antenatal screening tests for Down's Syndrome because of variations in study designs. We here present the main results from SURUSS, updated to take account of recent information on nuchal translucency in Down's Syndrome pregnancies, and discuss their implications. METHODS SURUSS was a prospective study of 47,053 singleton pregnancies (including 101 pregn ...
OBJECTIVE The objective of this study was to perform an economic evaluation of prenatal diagnostic strategies for women who are at increased risk for fetal trisomy 18 caused by either fetal choroid plexus cysts discovered in a conventional sonogram or an abnormal triple screen. STUDY DESIGN The prevalence of trisomy 18 in the presence of second-trimester fetal choroid plexus cysts and also in the presence of abnormal triple screen were made on the basis of previously reported studies. A cost/b ...
We report a case of mosaicism for three cell lines: 45,X, 46,XX, and 47,XX, + 12, diagnosed prenatally by amniocentesis done for advanced maternal age. Cord blood from the baby showed mosaicism for 45,X and 46,XX; cultures derived from multiple placental sites, villi, cord, membrane, and skin had varying proportions of all three cell lines. The patient at 18 months of age has mild physical dysmorphisms, hypotonia, delay in gross motor development, and age-appropriate cognitive development. The l ...
OBJECTIVE To develop a Canadian consensus document with recommendations on maternal screening for fetal aneuploidy(e.g., Down syndrome and trisomy 18) in pregnancy. OPTIONS Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with Down syndrome or trisomy 18 t ...
Toxoplasma infection during pregnancy is widely treated with oral spiramycin to reduce the risk of congenital toxoplasmosis in the infant. Failures of therapy have been observed, however. In this study, a sensitive high-performance liquid chromatography technique was used to measure concentrations of spiramycin and neospiramycin, one of the major metabolites of spiramycin, in maternal serum and amniotic fluid. Samples were obtained from 18 women who underwent amniocentesis for polymerase chain r ...
OBJECTIVE Our purpose was to evaluate the Down syndrome screening efficiency of a new algorithm consisting of multiple urinary biochemical and ultrasound markers for use in high-risk groups such as women of advanced maternal age. STUDY DESIGN The urinary beta-core fragment of human chorionic gonadotropin (beta-core fragment) and total urinary estriol, along with fetal nuchal thickness, were measured prospectively in pregnant women who were undergoing genetic amniocentesis at midtrimester (15 t ...
A pregnancy complicated by severe alloimmunization because of anti-E antibodies was evaluated with fetal movement counts, nonstress tests, and serial ultrasonography-amniocentesis. The successful outcome of this case suggests that such treatment may be an acceptable alternative to intrauterine transfusions for very select cases of severe alloimmunization. ...
To examine the relationship between the amniotic fluid MMP-9 and zinc levels during 16–19th gestational weeks and perinatal outcomes. One hundred and seventeen singleton pregnancies that underwent genetic amniocentesis from January 2005 through November 2009 were evaluated. Subjects were divided into two main groups: a control group (group 1) (n: 74), and an adverse obstetric outcomes group (group 2) (n: 43). Group 2 consisted of the following: preterm birth group, gestational hypertension and ...
Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct method and the culture method. While the direct method may prevent maternal cell contamination, the cu ...
The purpose of the current study was to determine whether or not the quadruple test for screening Down syndrome is an effective method to replace direct amniocentesis in pregnant women ≥35 years of age. This study analyzed the screening performance of the quadruple test according to maternal age at delivery among subjects who had a quadruple screening test at 1 of 4 hospitals during a 5-year period and for whom data on fetal chromosomal abnormalities were available. The study population of 9, ...
Between 1/7/1974 and 30/6/1979 we analysed 532 amniotic fluid cell cultures. In 402 cases a genetic indication for amniocentesis was given; 57 prenatal diagnoses were carried out for gynaecological and other medical indications. We also analysed 73 amniotic fluid test samples. Altogether 19 pathological results (3.6%) were found. We observed 16 abnormal findings in 459 diagnostic amniocenteses and 3 pathological results in the test cultures. The transmission of parental chromosomal polymorphisms ...
We report an apparently balanced reciprocal t(4q;5q) translocation ascertained coincidentally on amniocentesis in a phenotypically normal male fetus and found to be inherited in his mother and maternal grandmother. No banding study was available at the time of the amniocentesis, and the chromosomal status of his parents was unknown. Because of the possibility that this finding might be a de novo, unbalanced translocation, the pregnancy was terminated. Subsequently, the translocation was found to ...
Acute recurrent polyhydramnios is a rare occurrence characterized by a poor fetal outcome. This is a case report describing a 34-year-old woman presenting with acute recurrent polyhydramnios. Treatment with non-steroidal anti-inflammatory drugs (NSAID) and therapeutic amniocenteses was initiated immediately and resulted in a decreased amniotic fluid production from 30 weeks' gestation. Even after the discontinuation of NSAID treatment, the amniotic fluid production normalized, and the woman deli ...
Early identification of fetal abnormalities is possible as a result of improved ultrasound resolution, chorionic villus sampling, and early genetic amniocentesis. A potential advantage of early genetic amniocentesis over chorionic villus sampling is its ability to detect neural tube defects. We obtained 476 amniotic fluid samples between ten and 15 weeks' gestation and analyzed them for karyotype and alpha-fetoprotein (AFP); 142 were also tested for acetylcholinesterase. Amniotic fluid AFP level ...
OBJECTIVE To evaluate pregnancy outcome following late amniocentesis (>24 weeks of gestation). STUDY DESIGN A retrospective cohort of all women with singleton pregnancy that underwent late amniocentesis in one tertiary center. RESULTS Pregnancy outcome was validated in 168 women who underwent late amniocentesis. Overall, for the all study group the mean gestational age for amniocentesis was 31.6 ± 2.3 weeks and the mean gestational age at delivery was 38.1 ± 2. Indications for l ...
The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene locat ...
  • Noah Horn,
  • Journal of Inherited Metabolic Disease
  • 1983
Increased64Cu uptake into cultured cells is a biochemical marker for mutant cells in Menkes' disease (McKusick 30940). Using this marker selective prenatal diagnosis has been carried out in more than 80 at-risk pregnancies. The64Cu uptake into cultures from affected male fetuses is, however, negatively correlated to the fetal age at amniocentesis. After the 18th week of gestation the risk of false negatives is significant. Using copper uptake into uncloned cultures, a number of obligate and poss ...
Down's syndrome is the most frequent genetic disease. Each year, in France, there are 1,100 trisomy 21-affected newborns. this chromosomal disease is the most frequent cause of mental retardation raising an important public health problem. Prenatal diagnosis of chromosomal anomalies is based on fetal karyotyping, but cannot be proposed in all situations because of the cost and the risk of fetal death due to amniocentesis. The aim of screening is to define patients at increased risk for trisomy 2 ...
Methods This is a 38 years old pregnant women, 3rd gestation, with 2 previous Cesarean Secition, with any remarkable medical history (No teratogen exposure). A first trimester scan was routinely performed. An anechoic image suggestive of megacystis (>7mm) was reported with normal amniotic fluid; the rest of the fetal anatomy appeared normal. (Figures 1 and 2). The ultrasound follow up reveals an absent bladder with normal amniotic fluid after 16n weeks of pregnancy and the most characteristic ...
OBJECTIVE To evaluate a screening protocol using advanced maternal age, triple-marker screening, and genetic sonography. METHODS We compared adverse chromosomal outcomes of pregnancy in 1556 women referred for increased risk of aneuploidy because of either advanced maternal age or triple-marker test results. Patients were counseled about the results of the triple-marker test and subsequent sonography, which led to a patient decision of whether to pursue amniocentesis. Fetal measurements and st ...
A protocol using daily fetal biophysical assessment was applied in 73 consecutive patients with premature rupture of the membranes and no clinical signs of infection or labor. A persistently low biophysical score (7 or less on two examinations 2 hours apart) in the presence of a nonreactive nonstress test and absence of fetal breathing was used as an indication for delivery. Measures of pregnancy outcome included the presence of amnionitis or neonatal infection. The outcome of pregnancy in this ...
OBJECTIVE To test the hypothesis that small ears have diagnostic value in detecting second-trimester aneuploid fetuses by ultrasound. METHODS We prospectively studied 452 patients with singleton pregnancies undergoing ultrasound examination for genetic amniocentesis at 14-25 weeks and an additional 30 singleton pregnancies at 20-25 weeks with a negative anomaly screen. Standard fetal biometry measurements were obtained, including ear length (from helix to end of lobe). RESULTS Of these patie ...
A case of mosaicism of trisomy 15, with two-thirds of the cells trisomic, was detected at 12 weeks of gestation in amniotic fluid cell cultures obtained with the filtration technique. Ultrasound examination at 13 weeks showed a nodule protruding into the amniotic cavity which was speculated to be remnants of a co-twin, causing the trisomic cell line. At 20 weeks of gestation, a malformation scan (level III) was normal, but supplementary fetal echocardiography revealed a severe cardiac defect (mi ...
OBJECTIVES To assess in pregnant women with HIV the rates of amniocentesis and chorionic villus sampling (CVS), and the outcomes associated with such procedures. DESIGN Observational study. Data from the Italian National Program on Surveillance on Antiretroviral Treatment in Pregnancy were used. SETTING University and hospital clinics. POPULATION Pregnant women with HIV. METHODS Temporal trends were analysed by analysis of variance and by the Chi-square test for trend. Quantitative varia ...
The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal f ...
Fluorescence polarization of the amniotic fluid from 39 high risk pregnancies requiring preterm delivery was measured in order to assess the maturity of the fetal lung. The study population included 15 cases of intrauterine growth retardation, ten maternal hypertension, five maternal Hodgkin's disease, three placenta previa, two fetal malformation, two polyamnios, one untreated diabetes, one maternal nephropathy. All patients underwent a single amniocentesis before deciding whether to deliver a ...
Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32-year-old white female at 17.6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number 12 chromosome. Pathological examination of the fetus did not reveal significant physical abnormalities. This report illustrates the difficulty of confirming trisomy 12 mosaicism whi ...
A cost-benefit analysis of amniocentesis has been performed using both the excess-cost- and the replacement methods and several replacement and discount rates. In Denmark, amniocentesis is offered free of charge to various groups of pregnant women at risk for genetic disorders of the foetus. Most important is age greater than or equal to 35 years. The analysis is based on incidence and survival rates for Down syndrome (trisomy 21), Patau's syndrome (trisomy 13) and Edward's syndrome (trisomy 18) ...
BACKGROUND Women with spinal cord injuries are at risk for autonomic hyperreflexia during labor. CASE A 36-year-old woman, gravida 4, para 2, abortus 1, with a spinal cord injury and a positive antibody screen result had had a previous pregnancy complicated by autonomic hyperreflexia during labor. Autonomic hyperreflexia did not occur during serial amniocenteses and fetal transfusions for isoimmunization or intrapartum. CONCLUSION Intrauterine procedures and vaginal delivery were accomplishe ...
OBJECTIVES To investigate whether amniotic fluid concentrations of non protein bound iron (NPBI) vary with growth in healthy fetuses and also offer a reference curve in the second trimester of pregnancy. DESIGN AND METHODS Amniotic fluid concentrations of NPBI were measured by HPLC in 118 women with physiological singleton pregnancies, who underwent amniocentesis for fetal karyotype between weeks 15 and 18 of gestation. RESULTS NPBI increased progressively from weeks 14--15 to weeks 15--16, ...
Semantic Scholar extracted view of "Screening and diagnosis of fetal neural tube defects, abdominal wall defects and Down's syndrome. With special reference to biochemical and ultrasound screening in the second trimester of pregnancy and to early amniocentesis." by Finn Stener Jørgensen ...
A further case of trisomy 20 mosaicism found at amniocentesis is presented. Pregnancy was terminated, the fetus showed facial dysmorphia and minor cardial and renal anomalies. 19 published reports of true trisomy 20 mosaicism at amniocentesis are reviewed. Five pregnancies resulted in obviously normal newborns. The significance of mostly minor anomalies found at autopsy of 7 fetuses remains unclear. With regard to genetic counselling the significance of trisomy 20 mosaicism is summarized as foll ...