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PubMed1993

Prenatal quantitation of number of X-chromosomes by slot blot hybridization and autoradiography.

OBJECTIVE: To study the use of slot blot hybridization as a method of prenatal quantification of the number of X-chromosomes in chorionic villi samples. METHOD: DNA of chorionic villi from fetuses with karyotypes of 46,XY; 45,XO; 47,XXX; 69,XXX and 48,XXXX were extracted, slot blotted and hybridized to the following radioactive probes: beta 0.9, FVIII, pY3.4 and pBLUR. DNA of chorionic villi from five other fetuses with unknown karyotypes were similarly blotted and hybridized. Autoradiography with pre-exposed films was carried out and the density of each of the hybridized bands was scanned by a laser densitometer. RESULTS: It was found that with increasing amounts of DNA in the samples, the intensity of the bands hybridized with FVIII and beta 0.9 probes increased proportionately. However, the intensity of the bands obtained with the probes pY3.4 and pBLUR (probes containing multiple repeat sequences) varied little with increasing DNA concentrations. The ratios of radioactivity obtained for the two probes FVIII/beta 0.9, were well correlated with the number of X-chromosomes in the samples. Calculations of the FVIII/beta 0.9 ratio for the five samples with the unknown karyotypes gave a correct prediction of the number of X-chromosomes in each case. CONCLUSION: Slot blot hybridization can be used as a method of prenatal quantitation of the number of X-chromosomes in chorionic villi samples. The method could be useful for rapid prenatal diagnosis of other numerical chromosomal abnormalities.

Adult↗
PubMed1986

Identification of trophoblast in chorionic villi biopsy samples.

We have investigated a test for rapid discrimination between foetal and maternal origin of chorionic villi biopsy samples. A monoclonal antibody named H315 reacting against a specific antigen present on the surface of foetal trophoblastic cells, plus a double-colour staining technique (FITC + PI), have been used for the identification of foetal cells (H315-positive) and for visualization of nucleate (PI-positive) and anucleate (PI-negative) structures of chorionic villi. This test could be useful in differentiating foetal and maternal cells in chorionic villi biopsy samples currently used for prenatal diagnostic purposes.

Antibodies, Monoclonal↗
PubMed1998

Microscopic investigation of villi from chorionic villous sampling.

The aim of the present study was to investigate the morphology of cytogenetically normal chorionic villi from chorionic villous sampling (CVS) specimens. This information can serve as a reference for morphological investigation of cytogenetically abnormal CVS specimens. We were also interested in any relationship between chorionic villous architecture and the outcome of pregnancy. In a reference group (n = 94, normal karyotype and ongoing pregnancies), we observed a considerable variation in villous diameter (range 116-377 microm) and vascular density (range 0.5-6.7 vessels/villus) and a high incidence of morphological criteria, classically mentioned in relation to chromosomal or other abnormalities, such as: fibrinoid deposition (74.5%), trophoblastic layer degeneration (3.2%) and abnormal proliferation (7.4%), avascular villi (54.2%), stromal oedema (55.3%), trophoblastic inclusions (23.4%) and fibrosis (23.4%). In the cytogenetic abnormal group (n = 10), neither the diameter nor the vascular density of the villi differed from the values observed in the reference group. In the reference group, we only observed a tendency for larger birthweights in relation to respectively larger and more vascularized villi. It is concluded that in CVS specimens, chorionic villous architecture and morphological criteria do not have any clinical relevance, neither do they have any important predictive value.

Birth Weight↗
PubMed2026

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.

BACKGROUND: Optical genome mapping (OGM) is an emerging cytogenetic method for concurrently detecting structural variants (SVs) and copy number variants (CNVs). However, its clinical application in prenatal diagnosis remains underexplored. METHODS: This study retrospectively evaluated the clinical validity of OGM in prenatal diagnosis by comparing with two routine genetic testing methods: karyotyping and chromosomal microarray analysis (CMA). Both positive and negative cases detected by routine genetic methods were enrolled to evaluate the technical concordance of OGM and its capability to improve diagnostic rate in negative cases. The exclusion criteria were balanced centromeric translocations, mosaic cases with cellular fractions&#x2009;<&#x2009;20%, and loss of heterozygosity (LOH)&#x2009;<&#x2009;25&#xa0;Mb. All samples subjected to OGM testing were anonymized and analyzed blindly. The results from OGM were compared with those from routine genetic testing, and statistical analyses were performed to assess technical concordance and diagnostic rate. RESULTS: Of 217 samples (166 positive samples and 51 negative samples for routine genetic testing), all were successfully tested with OGM, including 2 umbilical cord blood samples, 4 chorionic villi samples, and 211 cultured amniotic fluid samples. Of the 207 reportable chromosomal aberrations from 166 positive samples, the blinded concordance between OGM and CMA, karyotyping, and combination of karyotyping plus CMA was 97.81%, 96.36%, and 97.10%, respectively. OGM missed six aberrations initially, including one LOH, two marker chromosomes, and three microdeletions. However, after reanalysis, its concordance improved to 100% with CMA and 99.03% with karyotyping plus CMA. OGM also diagnosed one additional case of a 3-kb deletion in 51 negative samples, improving the diagnostic rate by 1.96%. Moreover, OGM reclassified the pathogenicity of two microdeletions from pathogenic to uncertain significance in 2 positive cases. Furthermore, OGM clarified the diagnosis suspected by routine genetic testing and improved diagnostic accuracy in some cases. CONCLUSION: As far as we know, this is the largest retrospective study on OGM in prenatal diagnosis, and it includes a broad range of sample types. The results showed that OGM exhibits high concordance among the tested methods and increases the diagnostic rate. Thus, OGM has the potential to become a first-line technique for prenatal diagnosis in the future.

Humans↗
PubMed2001

Frequencies of fetal chromosomal abnormalities at prenatal diagnosis: 10 years experiences in a single institution.

We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, 800 chorionic villi samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chromosome abnormalities were 87 cases (1.8%) and structural aberrations of chromosomes were 63 cases (1.3%). In the numerical chromosomal abnormalities, the frequency of trisomy 21 was by far the highest (36 cases), followed by trisomy 18 in 22 cases and sex chromosome aneuploidies in 19 cases. In the structural chromosomal aberrations, 5 cases had the inversions in chromosome 2, 7, 17, and Y. Chromosomal deletions in 6 cases and additions in 4 cases were analysed. Of the remaining 47 translocation in abnormal fetuses, reciprocal translocation was in 26 cases and Robertsonian translocation in 21 cases. Among them, 41 cases were balanced translocation and 6 were unbalanced. Thirty five cases of translocation were inherited from one of the parents. Four had de novo chromosome rearrangements, and 8 cases were unknown.

Chromosome Aberrations↗
PubMed1986

[Value of chorionic biopsy in routine clinical diagnosis].

To test the advantages and risks of chorionic villi sampling, a method still new in prenatal diagnosis, 100 patients were examined. Most of the biopsies were taken in the 8th week of pregnancy. A soft catheter with a flexible mandrin was introduced transcervically to the chorion frondosum guided by ultrasound. The mandrin was then removed and trophoblastic tissue obtained by aspiration. The risk of abortion within 10-14 days after biopsy could be reduced to 4%. In the last series of chorionic villi samplings 92% of these could be evaluated cytogenetically. The use of quinacrine fluorescence technique showed that female mitoses were never found in male tissue. Because of the relatively low risk of abortion and the high diagnostic accuracy achieved in a very short period of time chorionic villi sampling can be considered as an alternative to amniocentesis.

Abortion, Spontaneous↗
PubMed1993

[Lysosomal enzyme activity of cultured fetal cells in Chinese and its clinical application].

Lysosomal storage diseases (LSD) are caused by deficient activity of specific lysosomal enzymes. Early diagnosis and selective termination is still the trend of therapy. The purpose of this study was to establish an assay system and investigate the reference range of lysosomal enzyme activity of cultured fetal cells in the Chinese population. Seventy amniotic fluid and 9 chorionic villi samples were collected and cultured in this study. Enzyme activity assay was done by synthesized 4-Mu-binded substrates. The activity was expressed as nmol/mg protein/hour. In cultured amniotic cells, the results showed 14-138 of alpha-glucosidase, 8-133 of alpha-galactosidase, 32-470 of alpha-mannosidase, 101-1121 of alpha-fucosidase, 106-1321 of beta-galactosidase, 15-268 of beta-glucosidase, 11-279 of beta-glucuronidase, 101-1193 of Hexosaminidase A, and 886-6204 of N-acetyl-alpha-glucosaminidase. In cultured chorionic villi samples, it showed 22-335 of alpha-glucosidase, 31-230 of alpha-galactosidase, 47-250 of alpha-mannosidase, 35-218 of alpha-fucosidase, 49-934 of beta-galactosidase, 34-329, of beta-glucosidase, 57-379 of beta-glucuronidase, and 328-3412 of Hexosaminidase A. The enzyme activity was not correlated with the gestation age when sample was obtained. Furthermore, there was no statistical significance among the range of amniotic cells, chorionic villi samples, skin fibroblasts and peripheral leukocytes for each enzyme studied. It is suggested that the synthesis of lysosomal enzymes has been mature since the early fetal state, and the samples obtained as early as 8 weeks of gestation age can be used for early diagnosis of lysosomal storage diseases.

Cells, Cultured↗
PubMed1991

[Transabdominal chorion aspiration in the second pregnancy trimester].

The authors report their experiences with 377 transabdominal chorionic villi samplings performed in the second trimester of pregnancy, between 1987-1989. They used the double needle technique with continuous ultrasound guidance. In every case they could get a sufficient amount of villi from one puncture, and there was no unsuccessful direct chromosome-preparation. The obstetrical complications of the procedure were measured by the analysis of the outcome of the first 300 pregnancies intended to continue: the abortion rate after the transabdominal chorionic villi sampling seems to be lower, than after amniocentesis.

Adult↗
PubMed1990

[Prenatal diagnosis using chorionic biopsy in the 1st trimester of pregnancy].

One hundred-sixteen pregnant women were subjected to chorionic villi sampling at the gestational age of 8-11 weeks. In 12 cases, the transabdominal approach was used, and in the rest of the cases, a flexible catheter was placed transcervically. The most frequent indication was the age of the pregnant women (over 35). Chorionic villi sampling was successfully performed in 97.5% of cases. Fetal loss amounted to 1.9%.

Adult↗
PubMed1995

Genetic diagnosis in multiple pregnancies.

A twin gestation presents unique problems in both genetic counseling and prenatal diagnosis. This article describes the specific genetic counseling concerns for a twin gestation and outlines the available techniques for genetic prenatal diagnosis. The technical aspects, risks and benefits to the pregnancy of amniocentesis and of chorionic villi sampling are compared. Although the risk of miscarriage after amniocentesis in a twin gestation is at least double that for a singleton, much of this additional risk is secondary to the inherent hazards of twins and not procedure-related. In experienced centers, chorionic villi sampling is equally safe and efficacious, and allows an earlier diagnosis that may be beneficial when discordant results are found. The aspects of serum screening unique to twin gestations are also outlined. Prenatal diagnosis by both chorionic villus sampling and amniocentesis can be safely performed in twin gestations and higher-order multiple gestations. Serum screening is also useful, but appears to have a lower sensitivity and specificity than in singletons.

Amniocentesis↗
PubMed2000

Prenatal diagnosis of cystic fibrosis: a case of twin pregnancy diagnosis and a review of 5 years' experience.

We performed prenatal diagnoses for cystic fibrosis in 32 high risk (1:4) couples (including a dizygotic pregnancy). Chorionic villi sampling did not cause abortion or fetal malformation in any case. The preliminary analysis of 9 short tandem repeats always excluded maternal contamination of the DNA extracted from chorionic villi and confirmed paternity. Twenty-two prenatal diagnoses were made by direct analysis of the mutations. In seven cases diagnosis was made by the analysis of intragenic polymorphisms; in three cases, we analyzed two extragenic polymorphisms. The prenatal diagnosis (including genetic counselling) was completed within 24 h from the sampling. Seven prenatal diagnoses revealed an affected fetus; all couples opted for therapeutic abortion. In 17 cases the fetus was heterozygote, and in seven cases it was non carrier of mutated alleles. In the twin pregnancy, mutations were DeltaF508/N1303K. Direct analysis of the DNA extracted from the two independent samples of chorionic villi revealed one fetus non carrier of mutated alleles and the other a carrier of the N1303K mutation. Analysis of the HPRT locus predicted both the fetuses as males. Furthermore, the genotype of each fetus was defined after birth. The prenatal diagnosis with chorionic villi sampling plays a key role in the prevention of cystic fibrosis. The laboratories must be equipped for both the direct analysis of mutations and for the analysis of a large number of polymorphisms. The preliminary analysis of short tandem repeats is recommended both to exclude maternal contamination and to confirm parentage.

Chorionic Villi Sampling↗
PubMed1989

[Study of the choice between sampling of the chorionic villi and the amniotic fluid in prenatal diagnosis].

We are reporting the results of a 21-month study during which 653 couples were seen in consultation at the prenatal diagnostic center of the University Hospital in Amiens, referred by their physician. 171 patients presented a theoretical term under 11 weeks of amenorrhea, for whom the choice between chorionic villi biopsy or amniotic fluid tap was possible. The different situations and results are compared for each method. The rate of fetal death was 5.4 per cent for chorionic villi biopsy and 1.5 per cent for amniotic fluid tap.

Amniocentesis↗
PubMed1997

Prenatal diagnosis of thalassemia in the Chinese.

There is a high prevalence of thalassemia in the Taiwan area. Prenatal diagnosis of severe forms of thalassemia is important for the prevention of this disease. We performed prenatal diagnosis in 167 cases, of which 59 cases were diagnosed by chorionic villi biopsy, 91 cases by amniotic fluid analysis, and 17 cases by cord blood analysis. Hb Bart's hydrops was detected by amplifying the break junction area of the alpha-thalassemia-1 Southeast Asia (SEA)-type gene, and beta-thalassemia major was detected by using naturally occurring restriction sites and the amplified created restriction sites (ACRS) method. Screening for hemoglobin (Hb) Bart's hydrops revealed 26 cases of Hb Bart's hydrops, 67 cases of alpha-thalassemia-1 (including 6 Hb Bart's hydrops falsely diagnosed as alpha-thalassemia-1 from chorionic villi samples), and 38 normal cases. Screening for beta-thalassemia major revealed 8 cases of beta-thalassemia major, 17 cases of beta-thalassemia minor, and 11 normal cases. In cases of alpha-thalassemia, maternal tissue contamination in the chorionic villi samples occurred in the diagnosis of the carrier state and further amniotic fluid analysis will be necessary. There were no any false-positive or false-negative results in beta-thalassemia major screening. We conclude that prenatal diagnosis is a reliable and accurate screening method for thalassemia and may be valuable in other areas of high prevalence for thalassemia in Southeast Asia and in Southern China.

Gene Frequency↗
PubMed1988

The yolk sac in early pregnancy failure.

An attempt was made to visualize the yolk sac in 845 patients scheduled for chorionic villi sampling. The distribution of yolk sac diameters and the interpolating growth curve up to 11 weeks of development were analyzed in 239 pregnant women who were delivered of normal infants. The highest visualizing rate of the yolk sac in normal pregnancies was 97 at 7 weeks of gestation. A total of 130 miscarriages occurred before chorionic villi sampling. In these cases, the diameter of the yolk sac versus crown-rump length tended to be larger than found in normal pregnancies. The visualizing rate of the yolk sac in miscarriages after the embryo had been formed was significantly higher in those women who demonstrated fetal heart activity (82.1%) than in those who did not (54.5%). On the other hand, the yolk sac was observed in 44% of miscarriages without a visible embryo. These findings suggest different types of missed abortion. An abnormal karyotype was observed in 23 of 29 chromosomal analyses performed on aborted specimens. An abnormal karyotype was observed in all eight cases with only a yolk sac-like structure within the gestational sac.

Abortion, Spontaneous↗
PubMedDate not supplied

Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.

A large number of chorionic villi samples obtained from women undergoing elective first trimester termination of pregnancy was analysed by enzyme assays similar to those applied to cultured amniotic cells. The levels of 15 lysosomal enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16-18 weeks of pregnancy and the results were discussed in order to assess the usefulness of trophoblast biopsy for first trimester diagnosis of hereditary lysosomal diseases. The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of alpha-L-iduronidase deficiency. Enzyme determinations were performed on chorionic villi samples of two pregnancies at risk for Tay-Sachs disease, three pregnancies for GM1 gangliosidosis type 1, one for mucopolysaccharidosis type VI and one for Wolman's disease.

Amniocentesis↗
PubMed1989

Investigations of chorionic villi after chorionic villus sampling (CVS). Correlation of morphological with clinical and laboratory data.

This report documents the first 262 cases of chorionic villus sampling (CVS) performed in parallel with cytogenetic and morphological investigations. Histomorphological examination of these CVS specimens gave suitable results in about 96% (251 cases). Of the latter, 201 samples (80.1%) exhibited villi and 176 (70.1%), maternal tissue. Viability and maturation of the chorionic villi were determined light microscopically even in cases with few villus trees. Smooth avascular villi with poorly defined margins observed under an inverted microscope, less than 10 mitoses after short-term incubation, and reduced growth of cell cultures were significantly correlated with sampling at the chorion laeve by means of histomorphologic criteria. Villi from cases exhibiting cytogenetically proved chromosomal abnormalities were characterized by molar degeneration or stromal fibrosis, or both, in 4 out of 9 cases, including 3 mosaics. In early abortions (within 3 weeks after CVS), an unexpectedly high rate of pathohistological changes within maternal tissue was evident. These results need further confirmation by investigation of a greater number of samples with immunohistochemical and morphometric methods.

Adult↗