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PubMed1981

[Polarization microscopic studies of the fine structure of the maternal-fetal barrier in normal human placentas depending on gestational age].

The submicroscopic structure of the throphoblast basement membrane and the collagen in the chorionic villi of human placentas was investigated by polarization microscopic technique. The study establishes a quantitatively measurable difference in the submicroscopic range of the placental membrane in relation to histologically classified disturbances of maturity.

Basement Membrane↗

PubMed2003

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.

OBJECTIVES: Trisomy 21 mosaicism associated with a structural rearrangement of chromosome 21 is uncommon. We report on two prenatal diagnoses in which karyotypes showed mosaicism with an aberrant cell line, including a structural rearrangement of chromosome 21. METHODS: Both these cases were associated with increased nuchal translucency. Conventional and molecular cytogenetic analyses were performed on uncultured and cultured trophoblast and amniotic fluid cells. RESULTS: In Case 1, analysis of trophoblast cells revealed an abnormal karyotype of 47,XX,+mar.ish der(13/21)(D13Z1/D21Z1+)/46,XX. The amniocentesis showed a free non-mosaic trisomy 21. In Case 2, the trophoblast direct analysis showed a normal male karyotype whereas the long-term culture revealed a mosaicism for a dicentric long-arm isochromosome 21: 46,XY,idic(21)(p11)/45,XY,-21/46,XY. Amniocentesis showed an unbalanced non-mosaic karyotype 46,XY,idic(21)(p11) resulting therefore in trisomy for the long arm of chromosome 21. CONCLUSION: Our cases underline the importance of combining the direct analysis and long-term culture of trophoblast and emphasise the need for confirmatory studies in other tissues when mosaicism of structural rearrangement is encountered in chorionic villi. The meiotic and mitotic mechanisms of formation of these structural rearrangements of chromosome 21 are discussed.

Adult↗

PubMed1988

Prenatal diagnosis and carrier detection by DNA studies in a Duchenne muscular dystrophy family with no living affected male.

Restriction fragment length polymorphism studies and gene dosage analysis using the intragenic probes pERT87 were used to detect deletions in potential carriers in a family with Duchenne muscular dystrophy in which the only affected male was deceased. Two females were found to have inherited the paternal pERT87 alleles but not the maternal alleles, suggesting that they have inherited the pERT87 deletion from their mothers. The hybridization signals of pERT87 from these two females upon gene dosage analysis also suggested that they had a single copy of pERT87. The chorionic villi of a male fetus from one of these two females was found to be deleted for pERT87, suggesting that it was affected. This result confirmed the carrier status of the mother.

Alleles↗

PubMed1996

Cytogenetic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis.

BACKGROUND: Pregnancies complicated by fetal cystic hygroma in the second and third trimesters are often associated with hydrops fetalis, oligohydramnios or intrauterine fetal death which may make genetic assessment more difficult. We investigated the roles of amniocentesis, postmortem chorionic villus sampling and cystic hygroma paracentesis in cytogenetic evaluation of cystic hygroma under such circumstances. METHODS: Thirty-five fetuses of cystic hygroma associated with hydrops fetalis, oligohydrammos, or intrauterine fetal death were studied. All fetuses were delivered at Mackay Memorial Hospital, Taipei, Taiwan between January, 1987 and July, 1995. Data collected included maternal age, prenatal sonograms, gestational age at diagnosis, fetal karyotypes and diagnostic procedures. RESULTS: Of 35 fetuses, all had hydrops fetalis, 19 had suffered IUFD at the time of diagnosis, and 10 had severe oligohydramnios. Cytogenetic studies were performed via amniocentesis, postmortem chorionic villus sampling, or cystic hygroma paracentesis. Successful karyotyping was achieved in 32 fetuses and the karyotype of 45,X was found in 24 fetuses. In cases with IUFD, successful karyotyping rates on cells from amniotic fluid, chorionic villi and cystic hygroma fluid were 88.9% (8 of 9), 69.2% (9 of 13) and 20% (1 of 5), respectively, whereas, in cases with living hydropic fetuses, successful karyotyping was achieved in 12 of 12 amniotic fluid and 5 of 5 cystic hygroma fluid samples. CONCLUSIONS: Amniocentesis is a better method for cytogenetic evaluation of fetal cystic hygroma associated with intrauterine fetal death than postmortem chorionic villus sampling and cystic hygroma paracentesis. However, in the case with a living hydropic fetus and oligohydramnios, cystic hygroma paracentesis appears to be a practical alternative for cytogenetic assessment.

Adult↗

PubMed1984

First-trimester diagnosis of Lesch-Nyhan syndrome.

Chorionic villi were sampled at 8-9 weeks' gestation in four women whose fetuses were at risk for Lesch-Nyhan syndrome. Radiochemical assay of hypoxanthine phosphoribosyl transferase activity and fetal sexing (in two fetuses by means of a Y chromosome specific cDNA probe) showed that three fetuses were affected. The biochemical findings were confirmed after therapeutic abortion in two cases and spontaneous abortion in the third. Chorion biopsy and ultramicroscale enzymology may be a suitable alternative to recombinant-DNA-based methods for first-trimester diagnosis in selected diseases where the abnormal gene product is an enzyme expressed in the chorion by the 8th week of pregnancy.

Chorionic Villi↗

PubMed2001

DNA analysis of abortion material assisted by histology screening.

In cases of rape leading to fertilization, paternity testing can retrospectively identify the assailant. Abortion material commonly represents a mixture of maternal and fetal tissue and blood, which cannot be differentiated with the naked eye. Consequently, DNA typing of abortion material may be complicated, including band overlap if maternal tissue predominates. Therefore, histology screening of the abortion content for typical fetal tissue components, such as chorionic villi, followed by selected DNA typing of this sample is suggested. This combined approach is illustrated by a selected case demonstrating the reliability and concurrence of the histology and genetic results.

Abortion, Induced↗

PubMed1991

First-trimester prenatal diagnosis in quintuplets: a practical approach using step-by-step embryo reduction.

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote and (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.

Abortion, Therapeutic↗

PubMed2006

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling.

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency.

Adult↗

PubMed1995

Prenatal diagnosis of isovaleric acidaemia by enzyme and metabolite assay in the first and second trimesters.

Isovaleric acidaemia (IVA) is caused by a deficiency of isovaleryl CoA dehydrogenase. The diagnosis can be established biochemically by the demonstration of increased levels of isovalerylglycine (IVG) and 3-hydroxyisovaleric acid in urine and by the deficiency of incorporation of radiolabel from [14C]isovaleric acid in macromolecules in cultured fibroblasts. This paper reports a consecutive series of 24 prenatal diagnoses in pregnancies at high risk, using both methods--metabolite and indirect enzyme assay. Affected fetuses were diagnosed in four pregnancies: three in the second trimester and one recent case in the first trimester. The latter represents the first reported case of a first-trimester diagnosis of IVA by direct analysis of chorionic villi. We also report the first demonstration of strongly accumulated IVG in the amniotic fluid in the 12th week of an affected pregnancy.

Amniocentesis↗

PubMedDate not supplied

Change of adrenomedullin concentrations in plasma and amniotic fluid, and human placental adrenomedullin expression with advancing gestation.

In order to characterize the expression of adrenomedullin during pregnancy, we measured the mature and total concentrations in maternal plasma and amniotic fluid, and examined its expression in fetoplacental tissues. Plasma samples were obtained from 13 normal normotensive non-pregnant women and 14 normal normotensive post partum women. Maternal plasma and amniotic fluid samples were obtained from 37 normal pregnant women (10 in the first trimester, 13 in the second trimester and 14 in the third trimester). Fetoplacental tissues were obtained from first and third-trimester pregnancies. Mature and total adrenomedullin concentrations in plasma and amniotic fluid were determined by using specific radioimmunoassay. The distribution and expression of adrenomedullin were determined using immunohistochemistry, reverse-transcriptase polymerase chain reaction, and in situ hybridization. Plasma total adrenomedullin concentrations were increasing with advancing gestation. The mature/total adrenomedullin ratio in the second trimester was the highest during pregnancy. Mature and total adrenomedullin concentrations in the amniotic fluid were significantly higher than those in the maternal plasma throughout gestation (P< 0.05). Mature adrenomedullin concentrations and the mature/total adrenomedullin ratio in the amniotic fluid increased with advancing gestation. There was a significant linear correlation between amniotic fluid and maternal plasma mature/total adrenomedullin ratio in the first or second trimester of pregnancy. Adrenomedullin mRNA was identified in the amniotic membrane and chorionic villi, and within the endothelial layers of villous blood vessels. These results suggest that the mature/total adrenomedullin ratio is modified in maternal plasma and amniotic fluid with advancing gestation.

Adrenomedullin↗

PubMedDate not supplied

Intervillous blood flow in the third trimester gravid rhesus monkey (Macaca mulatta): use of sonographic contrast agent and harmonic imaging.

A properly implanted and functioning placenta is essential for the normal outcome of pregnancy. As pregnancy advances, an increasing supply of maternal blood, which reaches the intervillous space of the placenta via the spiral arteries, is necessary for continued growth and development of the fetus. Presumably, deficient blood flow to the intervillous space can lead to placental ischaemia and an unfavourable outcome, such as pre-eclampsia. In this study, we used a primate model, where echocontrast-enhanced harmonic imaging was utilized to demonstrate placental intervillous blood flow without visualization of fetal blood circulation within the chorionic villi. We propose that this technique, which requires further assessment of efficacy and safety prior to use in humans, is a potentially useful non-invasive clinical tool for assessing intervillous blood flow in the third trimester of pregnancy.

Animals↗

PubMed2003

Prenatal exclusion of severe factor VII deficiency.

A nonconsanguineous asymptomatic couple, were identified as carriers of factor VII (FVII) deficiency when two of their newborn children died of massive intracranial hemorrhage secondary to severe congenital FVII deficiency. Complete sequence analysis of the factor VII (F7) gene in this couple indicated that the mother was heterozygous for an A to G transition at position -2 of the exon 5 acceptor splice site, and the father was heterozygous for a G to T transversion at position +1 of the exon 6 donor splice site. This information allowed us to exclude a compound heterozygous deficiency state in a subsequent pregnancy using PCR/direct sequencing of the F7 gene using DNA obtained from chorionic villi at 10 weeks' gestation. Our experience with the family reported here further supports the conclusion that mutation-specific detection is reliable in the prenatal exclusion of severe bleeding disorders.

Chorionic Villi Sampling↗

PubMedDate not supplied

Increased nuchal translucency, hydrops fetalis or hygroma colli. A new test strategy for early fetal aneuploidy detection.

OBJECTIVES: Nuchal translucency measurement of 3 mm or more (> or = 95th centile for gestation age), hydrops fetalis or hygroma colli between the 11th and 14th weeks of gestation is associated with a higher risk of fetal Down syndrome and other aneuploidies. So far, chromosome preparation of chorionic villi samplings (CVS) after short-term (or direct) culture is the only valid, reliable and rapid method of choice for the early detection of chromosomal aberrations. However, because of the placental mosaicisms detected after short-term culture, CVS has to be confirmed by a second method. Moreover, short-term villi preparation does not always provide a sufficient quantity and quality of metaphases to enable cytogenetic analysis. Unfortunately, a predicative cytogenetic result will be available only after long-term cultivation (usually after 1-2 weeks). An alternative rapid method, inexpensive and suitable for diagnosing autosomal trisomies, is the quantitative fluorescence polymerase reaction (QF-PCR) using different polymorphic small tandem repeats (STRs) on CVS-DNA. Therefore, it was the aim of the study to evaluate whether a new CVS test strategy could be employed in early pregnancies at high risk after the rapid detection of fetal chromosomal abnormalities by QF-PCR for chromosomes 13, 18 or 21 and sexing in conjunction with short-term chromosome analysis. MATERIALS: Nineteen CVS were chosen for QF-PCR detection of trisomy 21, 18 or 13 after an increased nuchal translucency measurement (> or = 95th centile for gestation age), a hydrops fetalis or a hygroma colli. The amelogenin locus of chromosomes X and Y (AMXY) were used for sexing. The QF-PCR results were compared with routine karyotyping after short- and/or long-term cultivation of CVS cells. RESULTS: An informative result was demonstrated in all analysed specimens. Nine CVS were diagnosed as a QF-PCR trisomy either for chromosome 21, 18 and 13. The pathological samples also included 4 cases of mosaicism where the normal cell line was not identified by QF-PCR. In 1 additional case with a normal QF-PCR result, short-term CVS chromosome analysis showed a mosaic trisomy 13, whereas longterm CVS culture revealed a normal karyotype. The malformed aborted fetus showed no clinical signs of trisomy 13, confirming the normal results obtained by QF-PCR and long-term CVS chromosome analysis. One pregnancy with a Turner syndrome was not identified by molecular analysis. CONCLUSIONS: This study showed that all early pregnancies with a clinically relevant autosomal trisomy could be detected prenatally in routine practice by QF-PCR. The combined use of both rapid methods - QF-PCR and short-term chromosome analysis - optimise the results by minimising the possibility of false-positive or false-negative findings. We believe that after verification of a pathological result obtained by two independent methods (QF-PCR and short-term CVS chromosome analysis), long-term villi cultivation is no longer necessary. However, in all cases with discrepancies, especially in samples with mosaic findings at short-term CVS cultivation, further studies are still necessary.

Chorionic Villi Sampling↗

PubMed1990

Chorionic villus sampling for prenatal diagnosis in Wales using DNA probes--5 years' experience.

Chorionic villi were sampled from 125 women who requested prenatal diagnosis, either for genetic disorder or because of advanced maternal age. Of these, 105 samples were obtained by the transcervical route and 20 were obtained by the transabdominal approach. The sampling success rate was 97 per cent (122/125). The mean maternal age of the patients was 31 years (range 17-44) and the mean gestational age at which the chorionic villus sampling was performed was 10 weeks (range 7-13 weeks). Seventy-four of these diagnoses involved the use of DNA markers. The minimal size of the sample used for DNA diagnosis was 5 mg. Maternal contamination was detected in two samples. A diagnosis was provided on all but two samples. The fetal loss rate was high initially but fell to 1.9 per cent in 1988.

Adolescent↗

PubMedDate not supplied

Chromosome analysis of first trimester chorionic villus biopsies prepared by a maceration technique.

A technique for the culture of chorionic villi for cytogenetic studies is described which is simple, reliable, rapid, and suitable for routine laboratory use. This method eliminates the need for multi-stage and time-consuming procedures inherent in previous techniques which have been developed for this tissue. Cultures suitable for analysis were obtained in an average of sixteen days and the risk of maternal cell contamination was evaluated. Results of cultures initiated from 50 chorion biopsies obtained by transcervical blind aspiration at a weekly termination clinic are presented, and the potential use of this technique as a routine procedure is discussed.

Chorionic Villi↗

PubMed1985

4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease.

Conditions for assay of alpha-N-acetylglucosaminidase activity in human cultured fibroblasts, cultured amniotic fluid cells, leucocytes, serum, plasma and chorionic villi were studied using the fluorogenic substrate 4-methylumbelliferyl-2-acetamido-2-deoxy-alpha-D-glucopyranoside. The substrate was found to have advantage both in terms of sensitivity and ease of use over previously-used colorimetric substrates for assay of the enzyme in these tissues, and for diagnosis of Sanfilippo B disease and identification of carriers. It should have particular application in first trimester prenatal diagnosis using chorionic villus biopsies.

Acetylglucosamine↗

PubMedDate not supplied

Allogeneic recognition and rejection reactions in the placenta.

One of the major questions in medicine is how human extraembryonic tissues escape rejection by maternal immune responses, because these tissues are allogeneic and should stimulate allogeneic recognition and rejection reactions. Evidence for maternal allogeneic recognition of extraembryonic tissues in chorionic villi, basal plate, and spiral arteries is presented. Extraembryonic membranes seem always to stimulate maternal allogeneic recognition and rejection reactions, and abnormal pregnancies appear to be associated with a simple quantitative increase of the same placental immunopathological lesions found in normal pregnancies.

Autoantigens↗

PubMed1993

Prenatal cytogenetic analysis of the fetus.

A number of different cell sources can be used for prenatal cytogenetic analysis, the most common being chorionic villi and amniotic fluid. Analysis can be done at any time between 9 weeks' gestation and term. Depending on the cell source and type of analysis required, the laboratory will take anywhere from 24 hours to 2 weeks to complete the study.

Amniotic Fluid↗