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At least 127 records · Page 7Linked to original sources
PubMed1999

First trimester prenatal diagnosis: fetal cells in the maternal circulation.

The recovery of fetal cells from the maternal circulation represents a promising approach to noninvasive prenatal diagnosis. Advances in techniques of sensitive molecular genetic analysis have enabled the conclusive demonstration of the presence of fetal cells in maternal blood. In most pregnancies, there are few fetal cells detectable. In some abnormal pregnancies, there appears to be increased fetomaternal transfusion, which facilitates recognition of aneuploid fetal cells. This review article describes general strategies of fetal cell isolation, current technical challenges, and clinical applications that are envisioned for the future. The increased appreciation of fetal cell microchimerism, and its association with complications of pregnancy and the postpartum development of autoimmune disease, is also discussed.

Cell Count↗
PubMed2000

[Problem-solving in immunohematology: interpretation of ABO typing and its difficulties].

Practice in immunohematology is replete with complex problems that require practitioners' problem-solving performance. In immunohematology, the acquisition of the reasoning process and necessary skills for making clinical decisions is based on teaching problem-solving strategies which potentially reduce errors and improve patient outcome. We discuss the recognition and resolution of the common causes of discrepancies in ABO typing results using problem-solving strategies.

ABO Blood-Group System↗
PubMed2004

External cephalic version: a safe procedure? A systematic review of version-related risks.

BACKGROUND: The Term Breech Trial has considerably increased the number of cesareans. External cephalic version (ECV) might be an effective method of lowering the rate of cesareans; its efficacy has been well established. However, although in the absence of anesthesia the risks are thought to be low, most studies have used populations too small to allow definite conclusions on version-related risks. METHODS: In an attempt to make an inventory of these risks, we have systematically analyzed 44 studies, covering a total of 7377 patients from 1990 to 2002. The studies used were derived from a Medline and Embase search. RESULTS: The most frequently reported complications were transient abnormal cardiotocography (CTG) patterns (5.7%). Persisting pathological CTG readings (0.37%) and vaginal bleeding occur rarely (0.47%). The incidence of placental abruption was even lower, at 0.12%. Fetomaternal transfusion was absent in five out of seven studies, with a mean incidence of 3.7%. Emergency cesareans were performed in 0.43% of all versions. Perinatal mortality was 0.16%. CONCLUSIONS: External cephalic version seems to be a safe procedure.

Breech Presentation↗
PubMed1995

Anti-D administration in early pregnancy - time for a new protocol.

The use of anti-D immunoglobulin has dramatically reduced the incidence of rhesus isoimmunization arising from pregnancy. A critical shortage of anti-D has developed and consumption must be reduced, preferably without increasing the risk of isoimmunization. The standard dosage of anti-D currently given at all gestational ages is 1 ampoule containing 125 micrograms of anti-D. Of the anti-D administered half is during the first trimester when a much lower dose could be used; 30 micrograms would remove from the maternal circulation the entire fetoplacental blood volume (3 ml) of a 12 week's pregnancy. A dose of 30 micrograms would also be adequate for most fetomaternal transfusions after 12 weeks but prior to the third trimester. A larger dose could be administered if maternal Kleihauer testing suggests the need for a supplementary dose. In the third trimester, the current regimen is appropriate - a dose of 125 micrograms of anti-D supplemented when needed on the basis of maternal Kleihauer testing. A lower dose ampoule of anti-D should be available. In addition, existing protocols for anti-D administration should be modified so that smaller more appropriate doses are given, better utilizing the limited supply of anti-D.

Australia↗
PubMed2004

X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.

X-linked ectodermal dysplasia and immunodeficiency (XL-EDA-ID) is an X-linked recessive disease caused by a mutation in the nuclear factor-kappaB (NF-kappaB) essential modulator (NEMO). Here we report an XL-EDA-ID patient with atypical features of very few naive-phenotype T cells and defective mitogen-induced proliferation of peripheral blood mononuclear cells (PBMCs). The patient's NEMO defect was diagnosed by flow cytometric analysis of intracellular NEMO staining. Specific cell lineages (monocytes and neutrophils) expressed reduced levels of NEMO, but 2 populations of T, B, and NK cells were detected with normal and reduced expression of NEMO. Genomic analysis revealed that duplication of a 4.4-kb sequence ranging from intron 3 to exon 6 caused the reduced expression of NEMO. Polymorphism analysis showed that the patient's B- and T-cell lines with reduced and normal expression of NEMO had the same X chromosome, indicating that the somatic mosaicism was not due to fetomaternal transfusion but was most likely due to postzygotic reversion. This XLEDA-ID case adds to our understanding of NEMO biology, indicating that NEMO is critical for T-cell development and/or survival in humans as well as in mice.

Animals↗
PubMed1991

Amniocentesis and chorionic villus sampling.

Amniocentesis and chorionic villus sampling (CVS) remain the most commonly used invasive prenatal diagnostic procedures. Recent reports on early amniocentesis demonstrate its application to the prenatal detection of certain biochemical disorders. However, its role in the evaluation of open fetal defects of the neural tube or ventral wall is still under investigation. The fact that many reports concerning early amniocentesis include a majority of patients beyond 11 to 12 weeks' gestation, thus placing the procedure outside the first trimester, make comparisons with CVS (usually performed between 9 and 11 weeks) problematic. The role of midtrimester amniocentesis in evaluating elevations of maternal serum alpha-fetoprotein, following a normal ultrasonographic examination performed specifically to detect fetal anomalies, is under scrutiny. It appears that risk adjustment may be appropriate following a normal scan, and prior to invasive procedures, but each center's recommendation to a given patient will depend on the expertise of the individual sonographer, as well as the quality of examination. CVS has gained acceptance as a safe first-trimester means of prenatal diagnosis, with increasing applications in the later stages of pregnancy. Chromosomal mosaicism detected by CVS may represent a phenomenon inherent to placental tissue; questions remain regarding mosaicism as a potential marker for increased pregnancy loss. Comparisons between the transcervical and transabdominal routes are reviewed, with equivalent results regarding safety and efficacy. Recent evaluations of fetomaternal transfusion following CVS are also described.

Amniocentesis↗