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At least 1,567 records · Page 87Linked to original sources
PubMed1993

[Early amniocentesis between the 12th-14th week of pregnancy. Clinical experiences with 1,100 cases].

Information is presented on 1100 early amniocenteses between the 12th and 14th week of gestation, performed at the Evangelisches Krankenhaus Oberhausen over a two year period. In all cases, a sufficient amount of amniotic fluid was obtained. In 99.7%, the cytogenetic diagnosis was successful. In 2.6% (29 patients), an aberrant karyotype was found. The time of cultivation was in the same range as can be observed in standard amniocentesis. The AFP-median measurements correlate with other studies. The spontaneous abortion rate was 0.3%. We conclude, that early amniocentesis can be performed safely and successfully by an experienced surgeon between the 12th to 14th week of gestation.

Abortion, Spontaneous↗
PubMed1992

[Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency].

Genetic counselling of the parents is prerequisite before prenatal diagnosis and prenatal therapy of CAH. Today, chorionic villous biopsy with DNA probe is the method of choice to identify homozygous CAH-fetuses. The aim of prenatal therapy is to prevent intrauterine virilization of the external genitalia in affected female fetuses. Therefore, dexamethasone (3 x 0.5 mg/d p.o.) is given to the mother immediately when pregnancy is confirmed, before prenatal diagnosis and karyotyping is possible. After the result of prenatal diagnosis, treatment is continued until term only when the fetus is affected and female. Prenatal diagnosis and effective treatment of female CAH fetuses greatly reduces the need for corrective surgery and thus helps to alleviate anxieties of prospective parents and therefore encourages further pregnancies. However, prenatal treatment of CAH to date still is an experimental therapy [corrected].

Administration, Oral↗
PubMed1993

[Detection or exclusion of fetal trisomy 18 by in-situ-hybridization of the histologic section].

In-situ-hybridization using a chromosome-specific centromeric DNA probe on paraffin embedded tissue of placental and foetal origin allows the detection of numerical chromosome anomalies, even after several years. This may facilitate the diagnosis of late abortions in those cases in which a conventional cytogenetic examination was not performed, but the clinical picture suggests a chromosomal syndrome. We demonstrate chromosome DNA fluorescence in-situ-hybridisation (FISH) with a chromosome 18 specific (peri) centromeric repeat probe, on paraffin sections of one case with a cytogenetically proven and of three cases with a questionable Edwards-syndrome, thus confirming or excluding trisomy 18 in two of the cases.

Abnormalities, Multiple↗
PubMed1991

[Prenatal chromosome findings in sonographically conspicuous fetuses].

A retrospective evaluation of 463 prenatal chromosome analyses in a total of 375 patients with suspicious ultrasound findings, revealed a high rate of severe chromosomal abnormalities (16%). The highest risk for an abnormal karyotype was found after sonographic detection of hygroma colli. Abnormal chromosome counts were also frequently found in fetuses with omphaloceles, duodenal atresia and hydrops fetalis, as well as in presence of intrauterine growth retardation and/or anomalies of the amniotic fluid volume. The anomalies mentioned above are, therefore, an urgent indication for a prenatal chromosome analysis. The technical improvements of ultrasound machines and growing experience of operators will lead to an increasing importance of sonography as a method for the identification of pregnancies, that are at high risk for chromosomal abnormalities.

Adolescent↗
PubMed1988

[Trisomy 22--prenatal findings in various developmental stages].

Four cases of trisomy 22 in different stages of pregnancy are reported, one of them showing a mosaicism. The diagnosis was made in three of the observations during the first trimenon, in one in the third trimenon. A typical pattern of malformations of developmental retardation could be demonstrated in the embryonic as well as in the extraembryonic tissues. Our findings confirm the different frequency of the single chromosome abnormality in the various stages of development in pregnancy.

Abnormalities, Multiple↗
PubMedDate not supplied

[Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].

Spinal muscular atrophy is one of the most common severe inherited diseases in childhood and especially the acute form of type I (Werdnig-Hoffmann) results in early death. Recently, all three types of childhood-onset SMA have been mapped to chromosome 5. Since then heterozygote detection in siblings and prenatal diagnosis of SMA type I is possible by indirect genetic analysis. As the gene and the mutation responsible for the disease have not yet been cloned, DNA analysis results in a risk figure which depends on the informativity and recombination frequency of the flanking markers studied.

Chorionic Villi Sampling↗
PubMed2001

Reversed end-diastolic flow in first-trimester umbilical artery: an ominous new sign for fetal outcome.

OBJECTIVE: The purpose of this study was to assess the fetal outcome of first-trimester pregnancies with reversed end-diastolic flow in the umbilical artery. STUDY DESIGN: Doppler studies in the umbilical artery were carried out in 2970 consecutive pregnancies scanned at 10 to 14 weeks. RESULTS: We observed 11 (0.4%) cases of reversed end-diastolic flow. Of these, an autosomal trisomy was shown in 7 and a congenital heart defect in 2 additional fetuses. Fetal demise was observed in 5 pregnancies, neonatal death was observed in 1, and termination of pregnancy was carried out in 4. Only 1 fetus survived. CONCLUSIONS: Reversed end-diastolic flow in first-trimester umbilical artery signals an ominous prognosis even with normal karyotype.

Chorionic Villi Sampling↗
PubMed1998

The low density lipoprotein receptor-related protein/alpha2-macroglobulin receptor regulates cell surface plasminogen activator activity on human trophoblast cells.

The low density lipoprotein receptor-related protein/alpha2-macroglobulin receptor (LRP/alpha2MR) mediates the internalization of numerous ligands, including prourokinase (pro-UK) and complexes between two-chain urokinase (tc-u-PA) and plasminogen activator inhibitor type-1 (PAI-1). It has been suggested that through its ability to internalize these ligands, LRP/alpha2MR may regulate the expression of plasminogen activator activity on cell surfaces; this hypothesis, however, has not been experimentally confirmed. To address this issue, we assessed the ability of LRP/alpha2MR to regulate plasminogen activator activity on human trophoblast cells, which express both LRP/alpha2MR and the urokinase receptor (uPAR). Trophoblasts internalized and degraded exogenous 125I-pro-UK (primarily following its conversion to tc-u-PA and incorporation into tc-u-PA.PAI complexes) in an LRP/alpha2MR-dependent manner, which was inhibited by the LRP/alpha2MR receptor-associated protein. Receptor-associated protein also caused a approximately 50% reduction in cell surface plasminogen activator activity and delayed the regeneration of unoccupied uPAR by cells on which uPAR were initially saturated with pro-UK. Identical effects were caused by anti-LRP/alpha2MR antibodies. These results demonstrate that LRP/alpha2MR promotes the expression of cell surface plasminogen activator activity on trophoblasts by facilitating the clearance of tc-u-PA.PAI complexes and regeneration of unoccupied cell surface uPAR.

Biological Transport↗
PubMed2006

Expression of human telomerase reverse transcriptase and correlation with telomerase activity in placentas with and without intrauterine growth retardation.

BACKGROUND: Human telomerase reverse transcriptase has been found in telomerase-positive tumor tissues, but not in telomerase-negative nonmalignant somatic cells. METHODS: Thirty-two first-trimester chorionic villi specimens (Group A), 33 second- and third-trimester placenta specimens without asymmetric intrauterine growth retardation (Group B) and 13 specimens of placenta tissue from cases with intrauterine growth retardation (Group C) were examined for telomerase activity and expression of human telomerase reverse transcriptase by reverse transcription polymerase chain reaction and quantitative reverse transcription polymerase chain reaction. RESULTS: Telomerase activity was detected in 29 of the 32 specimens (90.6%) in Group A, in 20 of the 33 specimens (60.6%) in Group B and none of the 13 specimens (0.0%) in Group C. Human telomerase reverse transcriptase was identified in all 32 specimens of Group A (100%), all 33 specimens of Group B (100%) and 2 of the 13 specimens in Group C (15.4%) by nested reverse transcription polymerase chain reaction. Copy numbers of human telomerase reverse transcriptase were 202.3 +/- 73.0 (n=32), 8.8 +/- 2.9 (n=33) and 0 (n=13) in Groups A, B, and C, respectively. Significant differences were observed between Groups A and B, Groups A and C, and Groups B and C (p <0.01, p < 0.01, and p < 0.01, respectively). CONCLUSIONS: Our findings indicate that human telomerase reverse transcriptase expression is the rate-limiting determinant of telomerase activity in chorionic villi during the first trimester. Telomerase activity was not detected in placentas with intrauterine growth retardation, whereas human telomerase reverse transcriptase was expressed in some placentas with intrauterine growth retardation.

Chorionic Villi Sampling↗