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At least 145 records · Page 8Linked to original sources
PubMed2006

Enrichment of NRBC in maternal blood: a more feasible method for noninvasive prenatal diagnosis.

OBJECTIVE: To assess the efficiency and reliability of the separation of fetal nucleated red blood cells (NRBCs) using the galactose-specific lectin method, we counted the number of NRBCs in the blood of pregnant women at various gestational ages, as well as after amniocentesis and termination. METHOD: Peripheral blood samples were obtained from (1) 22 singleton pregnant women (between 9 and 34 weeks of gestation) and from 23 women who underwent termination (between 6 and 19 weeks of gestation). To determine whether amniocentesis influences numbers of NRBCs, five samples were obtained (2) before and after the procedure. NRBC enrichment was initially performed using density gradients and subsequently using galactose-specific lectin. The cells were then stained with May-Gruenwald Giemsa (MGG) and counted under a light microscope. RESULTS: NRBCs were found in all samples, ranging from 1 to 82 (median = 12.5 cells/sample). The multiples of the median (MoM) conversion of the number of cells revealed a raise of 1.66-fold (0.12-6.64) in post-termination samples compared with the control value of 1.00 MoM (0.11-6.92; p = 0.036). The postamniocentesis increase was, instead, 1.11-fold (0.17-4.02), which did not reach statistical significance. CONCLUSION: All blood samples tested contained NRBCs. Samples obtained after termination yielded more cells than those obtained from women whose pregnancies were going on normally. The number of NRBCs in post-termination samples after MoM conversion differed significantly from those in controls. Although separation of NRBCs was not feasible due to extremely low numbers, our results indicated that NRBCs are detectable in all blood samples from normal pregnant women.

Abortion, Induced↗
PubMed1999

Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects.

Up until recently the evaluation of CVR (analysis of pulsatility) had been a priority in Doppler sonography. In preterm and term infants with open fontanels and sutures this information is restricted despite its value in extreme situations. Continuous Doppler sonography allows a new approach to monitoring pathophysiologic processes. In connection with improved data recording and processing as well as progress in monitoring blood pressure and central venous pressure, new noninvasive methods of surveillance become possible. Thanks to these methods experimental and clinical research has increasingly gained insight on the autonomic nervous system over the last few years (e.g., m- and r-wave analysis during continuous measurement of arterial blood pressure and heart rate). Already well-known and newly developed functional tests (e.g., tilting test, CO2-reactivity, phase shift, and so forth) will further improve our understanding of physiologic processes and help us develop individual therapy concepts for the newborn.

Brain↗
PubMed2006

Prenatal ultrasound: a tale of two cities.

At the beginning of the 21st century, community-based physicians have a technology which is safe, noninvasive and relatively inexpensive. It allows immediate access to visual data inside the body for the evaluation of health and disease. Prenatal ultrasound is vital for the efficient provision of preventive care even in community health centers, where physicians may not be the delivering physicians. To assess the frequency of this diagnostic technology, a longitudinal study of 36 months tabulated prenatal ultrasound scans performed in two community-based offices providing generalist healthcare from 2001 through 2003. Between the two offices, 68,938 patients were seen, 679 deliveries were attended and 1,286 medically indicated prenatal ultrasound examinations were performed. Prenatal ultrasound scans--compared to other common office procedures, such as electrocardiograms, chest radiographs, circumcisions, blood sugar checks, Papanicolaous and colposcopies--emerged as one of the most frequently preformed diagnostic tests in the office. Based on these results, medical educators preparing generalist physicians for community medicine may want to consider some training in prenatal ultrasound. Future research can confirm the generalizability of the findings of this pilot study in two urban health centers.

Adolescent↗
PubMed2003

The use of folic acid for the prevention of neural tube defects and other congenital anomalies.

OBJECTIVE: To provide information regarding the use of folic acid for the prevention of neural tube defects (NTDs) and other congenital anomalies, in order that physicians, midwives, nurses, and other health-care workers can assist in the education of women in the preconception phase of their health care. OPTION: Folic acid supplementation is problematic, since 50% of pregnancies are unplanned and the health status of women may not be optimal. OUTCOMES: Folic acid supplementation has been proven to decrease or minimize specific birth defects. EVIDENCE: A systematic review of the literature, including review and peer-reviewed articles, government publications, the previous Society of Obstetricians and Gynaecologists of Canada (SOGC) Policy Statement of March 1993, and statements from the American College of Obstetrics and Gynecology, was used to develop a new clinical practice guideline for the SOGC. VALUES: Peer-review process within the committee structure. BENEFITS, HARMS, AND COSTS: The benefit is reduced lethal and severe morbidity birth defects and the harm is minimal. The personal cost is of vitamin supplementation on a daily basis and eating a healthy diet. RECOMMENDATIONS: 1. Women in the reproductive age group should be advised about the benefits of folic acid supplementation during wellness visits (birth control renewal, Pap testing, yearly examination), especially if pregnancy is contemplated. (III-A) 2. Women should be advised to maintain a healthy nutritional diet, as recommended in Canada's Food Guide to Healthy Eating (good or excellent sources of folic acid: broccoli, spinach, peas, Brussels sprouts, corn, beans, lentils, oranges). (III-A) 3. Women who could become pregnant should be advised to take a multivitamin containing 0.4 mg to 1.0 mg of folic acid daily. (II-1A) 4. Women taking a multivitamin with folic acid supplement should be advised not to take more than 1 daily dose of vitamin supplement, as indicated on the product label. (II-2A) 5. Women in intermediate- to high-risk categories for NTDs (NTD-affected previous pregnancy, family history, insulin-dependent diabetes, epilepsy treatment with valproic acid or carbamazepine) should be advised that high-dose folic acid (4.0 mg-5.0 mg daily) supplementation is recommended. This should be taken as folic acid alone, not in a multivitamin format, due to risk of excessive intake of other vitamins such as vitamin A. (I-A) 6. The choice of a 5 mg folic acid daily dose for women considering a pregnancy should be made under medical supervision after minimizing the risk of undiagnosed vitamin B12 deficiency (hypersegmentation of polymorphonuclear cells, macrocystic indices, large ovalocytes, leukopenia, thrombocytopenia, markedly elevated lactate dehydrogenase level, confirmed red blood cell folate level). (II-2A) 7. Signs or symptoms of vitamin B12 deficiency should be considered before initiating folic acid supplementation of doses greater than 1.0 mg. (III-A) 8. A three-generation pedigree on the families of both the pregnant woman and the biological father should be obtained to identify increased risk for congenital birth defects (i.e., NTD, cardiac, chromosomal, genetic). (III-A) 9. Women who become pregnant should be advised of the availability of noninvasive screening tests and invasive diagnostic tests for congenital birth defects (including NTDs): maternal serum "triple marker screen" at 15 to 20 weeks, ultrasound at 16 to 20 weeks, and amniocentesis after 15 weeks of pregnancy if a positive screening test is present. (I-A) VALIDATION: This is a revision of a previous guideline and information from other consensus reviews from medical and government publications has been used.

Canada↗
PubMed1993

Maternal serum screening for neural tube defects and fetal chromosome abnormalities.

Second-trimester maternal serum screening is a noninvasive means of identifying pregnant women at an increased risk for various conditions including a fetus with open spina bifida, fetal Down syndrome, trisomy 18, multiple gestation, and adverse pregnancy outcome. Combinations of several different markers are available for screening. These include alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. In this review, we discuss the benefits and limitations of the screening tests and the suggested protocols for the care of patients.

Chorionic Gonadotropin↗
PubMed2001

Chlamydia, gonorrhea, and HIV-1 prevalence among five populations of women in the Czech and Slovak Republics.

BACKGROUND: Five populations at risk for sexually transmitted diseases (STDs) in the Czech and Slovak Republics were sampled. GOAL: To estimate prevalence of Chlamydia trachomatis, Neisseria gonorrhoeae, and HIV-1 infections. STUDY DESIGN: Urine specimens were collected serially from women at a Prague prenatal clinic (n = 134), a Prague dermatovenerealogy clinic (n = 91), sex workers from northern and central Bohemia (n = 35), students from a northern Bohemian school (n = 217), and Gypsies from Jarovnice, Slovakia (n = 128). These specimens were tested for chlamydia and gonorrhea using a ligase chain reaction pooling algorithm, and for HIV using an enzyme immunoassay confirmed by Western blot. RESULTS: The prevalence of chlamydia was 2.2% (95% CI, 0.4-6.4) in the prenatal clinic, 5.5% (95% CI, 1.8-12.4) in the STD clinic, 22.9% (95% CI, 10.4-40.1) among street sex workers, 8.2% (95% CI, 3.6-15.6) among sexually active female high school students, and 3.9% (95% CI, 1.3-8.9) among Gypsy women. Gonorrhea was found in only two populations: 2.2% (95% CI, 0.3-7.7) in the STD clinic, and 2.9% (95% CI, 0.1-14.9) among sex workers. No HIV-1 infection was detected. CONCLUSIONS: Urine screening was an efficient and accurate method for identifying groups at risk for STDs in the Czech Republic and Slovakia because sample collection was fast and noninvasive, and potential participation bias was reduced by high acceptability.

Adolescent↗
PubMed2006

[Fetal D gene in maternal plasma should be examined in all immunized Rh(-) pregnant women to avoid invasive procedures].

UNLABELLED: We have recently developed and published a noninvasive determination of fetal RhD status by examination of cell-free DNA in maternal plasma. The predictive value of the procedure of fetal testing, already published by us, was 99,6%. AIM: To assess the necessity of RhD fetal testing in immunized Rh(-) mothers with Rh(+) partners. MATERIAL: Rh(-) mothers with anti-D antibodies, their partners and children. METHODS: Molecular: RHD gene examination by real-time polymerase chain reaction; analysis of control genes present in the father but not in the mother. Serological: titre of anti-D antibodies, Rh phenotypes. RESULTS: Among 53 Rh(+) partners of immunized Rh(-) pregnant women, 56,6% were homozygous and 43,6%--heterozygous. The latter ones might have had either Rh(+) or Rh(-) children; in fact, in 52,2% of fetuses the D gene was not detected. Among fetuses of homozygous fathers (based on their phenotypes) 2 fetuses, to our surprise, occured to be Rh(-); however the subsequent genotyping showed that both fathers were heterozygous. The titres of anti-D in both groups of mothers with Rh(-) and Rh(+) fetuses were very similar. CONCLUSIONS: The examination of fetal D gene by noninvasive method should be performed in each alloimmunised Rh(-) mother if her partner is Rh(+). The prediction of RhD fetal status based on the fathers phenotype can be misleading, thus may result in unnecessary invasive method.

Adult↗
PubMed1992

Prenatal diagnosis.

The enormous progress witnessed in the field of prenatal diagnosis during the past two decades is likely to continue into the future. Improved imaging techniques are likely to enhance the resolution of noninvasively obtained fetal images considerably over their current excellent quality. Although this undoubtedly will be true for ultrasonography, the increased speed of magnetic resonance equipment may offer a new realm of imaging possibilities. Computerized image processing, analysis, and three-dimensional reconstructions all should make interpretation of fetal images easier and more understandable to the nonspecialist. Advances in molecular genetics will continue to accelerate, greatly expanding the range and accuracy of prenatal diagnosis. The alert pediatrician who is sensitive to genetic issues may, by early detection of pediatric disorders and careful family history assessment, be in a position to identify families at risk for serious genetic conditions and provide the opportunity to make informed decisions on reproductive options that avert a major tragedy. The pediatrician, working with obstetric colleagues, should be part of a team effort to support families going through prenatal testing. Familiarity with these rapidly changing technologies will make it far easier to support the family needing additional explanation about prenatal diagnosis issues.

Chromosome Aberrations↗
PubMed1991

Doppler flow velocimetry in hypertension in pregnancy.

Early studies suggested that Doppler ultrasound held great promise as a noninvasive, repeatable, and simple method of predicting hypertension in pregnancy and identifying those hypertensive pregnancies at high risk of maternal and fetal complications. Further studies have tempered this early enthusiasm by revealing the multiplicity of factors that may influence the Doppler waveform pattern. This makes interpretation of changes in the FVW pattern difficult. Despite these difficulties, there is evidence to suggest that Doppler velocimetry may contribute to two aspects of the management of hypertensive pregnancies. First, as a noninvasive method of investigating the effect of pharmacologic agents on maternal, fetal, and placental circulations. Second, a number of studies support a useful role for Doppler ultrasound measurements in the assessment of fetal well being in hypertensive complications. Present knowledge suggests that the technique will not replace existing fetal monitoring tests or be capable of indicating the optimum time for delivery. It does however, appear to be a useful adjuvant in assessing the risk of perinatal complications, especially in hypertensive pregnancies presenting before 30 weeks' gestation.

Female↗
PubMed1995

Early ultrasonographic detection of fetal growth retardation in an ovine model of placental insufficiency.

OBJECTIVE: Our aims were as follows: (1) to determine whether fetal growth retardation can be detected noninvasively with ultrasonography in ewes and (2) to establish the time interval between exposure of ewes to environmental stress that causes growth retardation (heat stress) and detection of growth lag for specific fetal body measurements. STUDY DESIGN: Four ewes were exposed to heat stress for 80 days starting at 35 days' gestation. (The duration of pregnancy in sheep is 147 days). Serial ultrasonographic measurements of fetal biparietal diameter, abdominal circumference, and femur and tibia lengths were obtained beginning at 50 days' gestation. Growth curves were calculated for each parameter and compared with growth curves obtained from 43 normal fetuses. RESULTS: Biparietal diameter measurements deviated significantly from normal starting at 90 days' gestation (p < 0.05). Abdominal circumference diverged at 70 days' gestation (p < 0.05), and both femur and tibia length diverged at 80 days (p < 0.05). The regression lines showed significant differences for all the parameters in both slope (p < 0.01) and intercept (p < 0.01). CONCLUSIONS: Fetal growth retardation can be detected noninvasively by ultrasonography after approximately 5 weeks of exposure to heat stress. Fetal growth continues throughout gestation but at a slower rate than normal and according to a pattern similar to that observed in asymmetrically growth-retarded human fetuses. Early detection of stunted fetal growth in an animal model is important for testing intervention strategies in the treatment of fetal growth retardation.

Abdomen↗
PubMed1995

[Biochemical diagnosis and enzymic diagnosis of lysosomal diseases].

Originally, diagnosis of lysosomal diseases was primarily based on clinicopathological findings and on identification of abnormally stored substances by analytical biochemistry. Since extraneural tissues possess only very low levels of sphingolipids, lipid analysis with Folch method and/or its modifications is usually limited to nervous system, and their applicability is restricted to postmortem examination and, occasionally, to verification of a prenatal diagnosis after abortion. On the other hand, recently developed TLC/enzyme immunostaining method might be useful for antemortem analysis of abnormally stored glycosphingolipids, because it could detect glycosphingolipids quantitatively with clinically available 0.5 approximately 1 ml CSF. During the past two decades, however, diagnostic emphasis has shifted to enzymic assay, which provide relatively easy, noninvasive antemortem diagnosis because clinically available enzyme sources, such as serum, leukocytes and cultured fibroblasts, and also commercially available artificial substrates can be used. These procedures can be used to detect heterozygous carriers. Identification of affected fetus during early pregnancy is generally possible with similar procedures.

Chromatography, Thin Layer↗
PubMedDate not supplied

Ontogeny of clenched-hand development in trisomy 18 fetuses: A serial transabdominal fetoscopic observation.

Malpositioning of the fingers is a characteristic anomaly in fetuses with trisomy 18. The defect results in part from muscle variations along the radial margin of forearm and hand, absence of the thenar muscles, anomalous tendons and attachments among the forearm groups, and fusions among the arm flexor group. These variations result in radial or ulnar displacement of the tendons of extensor digitorum and digiti minimi, with overlapping of the fourth and fifth fingers radially and second finger in an ulnar direction. The ontogeny of these changes is unknown. We performed serial transabdominal thin-gauge fetoscopy in a patient with increased nuchal thickening at 12 weeks of pregnancy at the time of genetic testing and again at 14 weeks at the time of termination of pregnancy. Changes in the positioning of the fingers were not apparent at 12 weeks, but were evident at 14 weeks. The findings were beyond the resolution of ultrasound. We conclude that malpositioning of the fingers in trisomy 18 occurs some time between 12 and 14 weeks of gestation. Noninvasive confirmation of these findings may be possible with new and improved ultrasound imaging capabilities or perhaps with three-dimensional ultrasound.

Adult↗
PubMed2006

Perinatal glucocorticoid treatment disrupts the hypothalamo-lactotroph axis in adult female, but not male, rats.

This study aimed to test the hypothesis that the tuberoinfundibular dopaminergic neurons of the arcuate nucleus and/or the lactotroph cells of the anterior pituitary gland are key targets for the programming effects of perinatal glucocorticoids (GCs). Dexamethasone was administered noninvasively to fetal or neonatal rats via the mothers' drinking water (1 mug/ml) on embryonic d 16-19 or neonatal d 1-7, and control animals received normal drinking water. At 68 d of age, the numbers of tyrosine hydroxylase-positive (TH+) cells in the arcuate nucleus and morphometric parameters of pituitary lactotrophs were analyzed. In control animals, striking sex differences in TH+ cell numbers, lactotroph cell size, and pituitary prolactin content were observed. Both pre- and neonatal GC treatment regimens were without effect in adult male rats, but in females, the overriding effect was to abolish the sex differences by reducing arcuate TH+ cell numbers (pre- and neonatal treatments) and reducing lactotroph cell size and pituitary prolactin content (prenatal treatment only) without changing lactotroph cell numbers. Changes in circulating prolactin levels represented a net effect of hypothalamic and pituitary alterations that exhibited independent critical windows of susceptibility to perinatal GC treatments. The dopaminergic neurons of the hypothalamic periventricular nucleus and the pituitary somatotroph populations were not significantly affected by either treatment regimen in either sex. These data show that the adult female hypothalamo-lactotroph axis is profoundly affected by perinatal exposure to GCs, which disrupts the tonic inhibitory tuberoinfundibular dopaminergic pathway and changes lactotroph morphology and prolactin levels in the pituitary and circulation. These findings provide new evidence for a long-term disruption in prolactin-dependent homeostasis in females, but not males, after inappropriate GC exposure in perinatal life.

Animals↗
PubMed2004

MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.

The analysis of circulating nucleic acids has revealed applications in the noninvasive diagnosis, monitoring, and prognostication of many clinical conditions. Circulating fetal-specific sequences have been detected and constitute a fraction of the total DNA in maternal plasma. The diagnostic reliability of circulating DNA analysis depends on the fractional concentration of the targeted sequence, the analytical sensitivity, and the specificity. The robust discrimination of single-nucleotide differences between circulating DNA species is technically challenging and demands the adoption of highly sensitive and specific analytical systems. We have developed a method based on single-allele base extension reaction and MS, which allows for the reliable detection of fetal-specific alleles, including point mutations and single-nucleotide polymorphisms, in maternal plasma. The approach was applied to exclude the fetal inheritance of the four most common Southeast Asian beta-thalassemia mutations in at-risk pregnancies between weeks 7 and 21 of gestation. Fetal genotypes were correctly predicted in all cases studied. Fetal haplotype analysis based on a single-nucleotide polymorphism linked to the beta-globin locus, HBB, in maternal plasma also was achieved. Consequently, noninvasive prenatal diagnosis in a mother and father carrying identical beta-thalassemia mutations was accomplished. These advances will help in catalyzing the clinical applications of fetal nucleic acids in maternal plasma. This analytical approach also will have implications for many other applications of circulating nucleic acids in areas such as oncology and transplantation.

DNA Mutational Analysis↗
PubMed1989

[New non-invasive possibilities for assessing the function of the utero- and fetoplacental unit: Doppler sonography flow characteristics of selected arteries in normal pregnancy].

The introduction of the Doppler ultrasound measurements opened a new functional dimension in ultrasound diagnosis. For the first time, there is a possibility of estimating both the physiology and the pathophysiology of the uteroplacentofoetal haemodynamics with a noninvasive method during pregnancy. On the basis of more than 400 Doppler ultrasound vascular tests in uteroplacental arteries and in the umbilical artery of 110 pregnant women the blood flow velocity wave-forms were analyzed qualitatively with the pulsatility index, the resistance index and the S/D ratio. The gestational age-related decrease of these values in normal pregnancies reflects a reduction of the flow resistance in placental villous circulation. The values in retroplacentary arteries depend on the location of the tested vessel. The reference values are presented and the problems of the Doppler ultrasound numerical value inquiry and interpretation are discussed.

Arteries↗
PubMed2003

Serial in utero ultrasonographic measurements of the fetal thyroid: a new complementary tool in the management of maternal hyperthyroidism in pregnancy.

OBJECTIVE: Treatment of maternal hyperthyroidism during pregnancy is complicated by the lack of readily available measures of the thyroid status of the fetus. The aim of this study is to describe the use of serial in utero ultrasound measurements of fetal thyroid in patients being treated for Graves' disease in pregnancy. METHODS: Over a 24-month period, all pregnant women with Graves' disease attending our special Fetal Thyroid Unit were followed. Maternal thyroid status was assessed by thyroid function tests. Fetal thyroid size was measured serially by transvaginal ultrasonography between 14 and 17 weeks of gestation and by abdominal ultrasonography between 18 and 37 weeks of gestation in 20 women with Grave's disease. RESULTS: In 15 fetuses, thyroid width and circumference were within the 95% confidence interval of the normal population. In five fetuses, thyroid size was above the 95th percentile for gestational age. In three of them, thyroid size decreased concurrently with a decrease in maternal thionamide dosage, reaching normal range. These three fetuses were born euthyroid. In two fetuses, thyroid size was unaffected by a decrement in maternal drug dosage. Both had neonatal thyrotoxicosis at birth. CONCLUSIONS: Serial in utero ultrasonography measuring fetal thyroid size in mothers with Graves' disease can serve as an effective noninvasive tool for the early detection of enlarged fetal thyroid. These findings can be used to monitor the maternal antithyroid drug dosage, thereby preventing intrauterine hypothyroidism in some cases. When a dosage reduction does not cause a decrease in fetal thyroid size, transplacental passage of thyroid-stimulating antibodies causing fetal thyrotoxicosis should be suspected.

Adult↗
PubMedDate not supplied

Fluorescence in situ hybridization (FISH) as a method to detect aneuploid cells.

OBJECTIVES: To test the sensitivity and specificity of various FISH probes for detecting male and aneuploid cells and to determine the percentage of fetal cells that must be present in a sample in order to use the probes for prenatal diagnosis. METHODS: Adult human lymphocytes were cultured and harvested. Twelve different proportions of male to female cells and 5 different proportions of trisomy 21 cells and trisomy 18 cells in euploid cells were prepared for FISH. Alpha-satellite DYZ1 was applied to detect the male cells. Chromosome 21/Down syndrome critical region cosmid and D13Z1/D21Z1 alpha-satellite probes were applied to detect trisomy 21 cells. The D18Z1 alpha-satellite probe was used to detect trisomy 18 cells. RESULTS: DYZ1 detected male cells reliably in concentrations as low as 2%. Both D18Z1 and chromosome 21/Down syndrome critical region cosmid probes could detect aneuploid cells at reasonably achievable concentrations. However, the D13Z1/D21Z1 probe was not sensitive below concentrations of 50%. CONCLUSIONS: FISH is an alternative technique for noninvasive prenatal diagnosis. The sensitivity and specificity of FISH probes may play a crucial role in the accuracy of prenatal diagnosis.

Adult↗
PubMed1999

Prenatal diagnosis as a test for genodermatoses: its past, present and future.

The prenatal diagnosis (PND) of severe hereditary skin diseases started in the early 1980s using fetal skin biopsy techniques based on ultrastructural and immunohistochemical abnormalities of the fetal skin. Recent success in identifying responsible genes and demonstrating mutations in such genes has set the stage for DNA-based PND in the 1990s. Common examples of skin conditions which can be prenatally diagnosed include epidermolysis bullosa, oculocutaneous albinism and Harlequin ichthyosis in which the severity of the clinical phenotype appears to justify PND in families at risk. More recently, preimplantation diagnoses of inherited diseases have become possible using in vitro fertilization techniques. The diagnosis consists of a blastomere biopsy of the six to ten-cell embryo and a DNA analysis of single blastomeres. Disease-free embryos are selected for transfer to the uterus, thereby avoiding the need for termination of a fetus found to be affected by conventional PND. Furthermore, carrying out a PND using a single fetal cell from the maternal blood, such as nucleated erythrocytes, has become technically feasible. Although there are many questions that remain unanswered, the outlook for further development of noninvasive PND in the future appears optimistic.

Female↗