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PubMed1993

Chromosome analysis of adenomatous polyps of the colon: possible existence of two differently evolving cytogenetic groups.

A chromosomal study of 42 colonic adenomatous polyps was performed using a technique of direct chromosome analysis derived from the prenatal procedure for diagnosing chromosomal alterations from chorionic villi sampling. Abnormal karyotypes were found in 22 cases. Trisomy 7, the most frequently found alteration, was found in 13 cases, followed by trisomy 13 (nine cases). Monosomy 18 was observed in two cases; in one of these, that of a polyp which had degenerated into an intra-mucosal adenocarcinoma, it was associated with 17p monosomy. Interestingly, these two types of alterations (trisomy 7 versus 18 and 17p monosomy) were not found together in the same lesion. This suggests that there could be two distinct chromosomal behaviors which might be related to the two cytogenetic groups described for colorectal adenocarcinoma. However, the respective frequencies of such cytogenetic groups varied inversely between adenomas and adenocarcinomas, thus suggesting that they evolve differently.

Adult↗
PubMedDate not supplied

Hydrops fetalis caused by severe alpha-thalassemia.

Alpha-thalassemia is a prevalent condition in South East Asia and spreading because of increasing immigration. Hemodynamic study of Hb Bart's hydrops fetalis, the most severe form of alpha-thalassemia, showed the fetuses were in a hyperdynamic circulatory state and were also more acidotic, hypoxic, and hypercarvic than normal fetuses. The most common molecular defects of Hb Bart's hydrops fetalis was the Southeast Asia type deletion. Prenatal diagnosis of Hb Bart's hydrops fetalis and HbH diseases has been achieved using chorionic villi sampling or fetal blood sampling.

Asia, Southeastern↗
PubMed1996

Clinical significance of placenta-confined nonmosaic trisomy 16.

Since the introduction of chorionic villi sampling in 1984 we have observed five first-trimester cases of nonmosaic placenta confined trisomy 16. At subsequent follow-up it appeared that all five had an adverse maternal or fetal outcome. In three cases the mother had preeclampsia. Two of the infants were born with multiple congenital abnormalities, including tetralogy of Fallot. All children were growth retarded.

Abnormalities, Multiple↗
PubMed1998

Prenatal karyotyping of choroid plexus cysts.

OBJECTIVES: A retrospective, descriptive study of 50 cases with choroid plexus cysts diagnosed by ultrasonography. METHODS: All case charts were studied and additional information was collected regarding children born outside Uppsala. RESULTS: All 50 cases were offered a test for chromosome aberrations, 46 accepted and were tested by chorion villi sampling or amniocentesis. In ten cases additional malformations were found, including one trisomy 13 and one trisomy 18. No relationship was found between the diameter, bilaterality or the complexity of the cyst. CONCLUSIONS: Fetus with choroid plexus cysts should be examined carefully by ultrasonography. Since the complication risk of invasive diagnostic procedures is very small these patients may be offered a test for chromosomal aberrations.

Adolescent↗
PubMed1999

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.

In the majority of facioscapulohumeral muscular dystrophy (FSHD) families (about 95%) the genetic defect has been identified as a deletion of a variable number of KpnI repeats in the 4q35 region, although no specific transcripts from this locus have been isolated so far. Molecular diagnosis is based on the detection by probe p13E-11 of EcoRI small fragments, in the range 10-28 kb, that are resistant to BlnI digestion. In family studies this probe is used with other 4q35 polymorphic markers to assign the haplotype associated with the disease. So far, we performed DNA analysis in 145 FSHD families and identified the 4q35 DNA rearrangement not only in affected individuals, but also in healthy subjects at risk of transmitting the disease, such as non-penetrant gene carriers and somatic mosaics. In addition we applied prenatal tests to 19 fetuses, using DNA extracted from chorionic villi samples (CVS) at 10-11 weeks of gestation. The FSHD status, as determined by the presence of BlnI-resistant small fragments associated with the at risk haplotype, was assessed in nine fetuses; in the remaining 10 cases the disease was excluded. Our results show that molecular analysis of 4q35 rearrangements is a reliable indirect method to perform diagnostic, predictive and prenatal tests in FSHD.

Chromosomes, Human, Pair 4↗
PubMedDate not supplied

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.

Haemophilia A is the most common inherited bleeding disorder in man, affecting approximately 1 male in 10,000. The disease is caused by a deficiency in the gene for factor VIII, a component of the intrinsic coagulation pathway. Due to the broad range of clotting activity in normal and heterozygous females, it is often difficult to confirm the status of women at risk for carrying the disease. A genetic marker in the form of a restriction fragment length polymorphism (RFLP) within or tightly linked to the factor VIII gene would serve as a tag for the haemophilia gene, thus allowing both accurate carrier detection and improved, earlier prenatal diagnosis by chorionic villi sampling. The recent isolation of the factor VIII gene has allowed a search for RFLPs within the gene, and we report here the identification of a common polymorphism within the factor VIII gene, revealed by the restriction enzyme BclI, which can be used diagnostically in about 42% of all families. Although the disease haemophilia A has been mapped to the distal portion of Xq, the BclI RFLP makes possible higher-resolution genetic linkage mapping with respect to other polymorphic markers on this portion of the X chromosome. We have established close linkage of the factor VIII gene to several useful RFLP markers, including the highly informative marker St14. These markers should also be useful for prenatal diagnosis of haemophilia A and for detection of its carriers.

Chromosome Mapping↗
PubMed1990

[Alpha-thalassemia as a rare differential diagnosis of hydrops fetalis et placentae].

alpha-Thalassaemia is a disturbance of the alpha-chain synthesis of the haemoglobin, which occurs mostly in the Far East. On account of the total absence of alpha-chains, the homozygous form is considered to be fatal. However, beta and lambda chains exist abundantly. Abortion, intrauterine or perinatal death are the results of the extreme anaemia (Hb-Bart's syndrome), despite modern intensive medical care. The prenatal diagnosis is possible by: 1. DNA analysis of material obtained by chorion villi sampling or culture of fibroblasts, when a risk of re-occurrence is known to the physician. 2. Hb-electrophoresis from foetal blood in cases of hydrops of uncertain origin. When the diagnosis of this fatal disease is established, there is no foetal indication for delivery by Caesarian section.

Adult↗
PubMed1990

[Early amniocentesis for cytogenetic diagnosis].

This study was designed to assess the feasibility of amniocentesis and amnion cell culture for prenatal diagnosis in early weeks of gestation (less than 15 weeks). Within a period of 18 months (1/88-6/89) 135 diagnostic amniocenteses were performed between 10 and 14 weeks and amniotic fluid was obtained in all instances. In all cases but one, sufficient cell cultures and chromosomal analyses were achieved. In the follow up, one miscarriage (0.7%) occurred, in two cases transient amniotic fluid leakage ceased spontaneously. All of the aforementioned complications were related to amniocenteses in weeks 11 and 12. The course of the continued pregnancies as well as fetal outcome were without any further complications. Comparing specimens of early and regular (16-18 weeks) amniocenteses in terms of time required for cell culture and karyotyping as well as the quality of chromosomal banding no significant differences were found. In contrast to maternal serum AFP which increased continuously, amniotic AFP levels could be seen to increase to a peak at 13 weeks' gestation but afterwards gradually declined. Based on these first experiences and results of early amniocenteses the specific problems of this method are discussed. In summary, it is concluded, that early amniocentesis between 12 and 14 weeks of gestation is feasible with regard to both the technique of amniotic fluid retrieval and the technique of chromosomal analysis. Early amniocentesis, therefore, could fill up the diagnostic gap between chorionic villi sampling (CVS) between 9 and 11 weeks of gestation and "classical" amniocentesis during weeks 16-18.

Amniocentesis↗
PubMed2002

Analysis of HLA-DRB1*-A* and -B* alleles in prenatal diagnosis for determination of maternal contamination in fetal DNA.

During chorionic villi sampling for prenatal diagnosis with molecular biology techniques, contamination by maternal decidua frequently occurs and can lead to misinterpretation of the test results. To avoid such problems, we present a new method for appraising maternal contamination of fetal DNA, based on genomic typing of the highly variable human leukocyte antigen (HLA) locus-DRB1*, locus A* and locus B* regions by genetic amplification with sequence-specific primers and PCR. Fetal DNA samples obtained for beta-thalassemia diagnosis were analysed after artificial contamination with increasing maternal DNA concentrations ranging from 0.5 to 10% (0.5, 1, 3, 5 and 10%). The approach was found to be rapid, specific, reproducible and highly sensitive and permits recognition of 1-3% contamination by maternal DNA concentrations. The system currently used for detecting maternal DNA contamination in fetal samples is the analysis of polymorphic loci by variable number of tandem repeats and/or short tandem repeats. We propose that the analysis of HLA alleles may provide a valid alternative or complement to this system.

Alleles↗
PubMed1993

Trichomonas vaginalis: a reemerging pathogen.

Infestation with T. vaginalis is a common and potentially morbid infection. In addition to reproductive tract discharge and irritation, infection with this protozoa is increasingly recognized to be associated with reproductive tract complications, including postabortal infection, postcesarean infection, preterm birth, and PROM. Clinical diagnosis is often difficult and newer approaches using specific antigen and nucleic acid technologies will probably replace "wet prep" microscopic techniques. Effective treatments continue to depend on oral metronidazole treatment. Cure of resistant strains, which remain rare, depends on administration of higher, more prolonged doses of metronidazole. Improved understanding of the natural history, pathobiology, diagnosis, and treatment of this common protozoa is urgently needed. Practitioners should consider routinely screening and treating women for trichomoniasis before any reproductive tract surgery (chorionic villi sampling, hysterectomy, cesarean section, dilatation and curettage, therapeutic abortion, and so on), after changing sexual partners, and during pregnancy. Both symptomatic and asymptomatic patients and their sexual contacts should be treated.

Diagnosis, Differential↗
PubMed1991

Enhancement of amniotic fluid cell growth for genetic amniocentesis.

The last two decades have witnessed a logarithmic growth in demand for prenatal diagnosis of human disease through amniocentesis. Consequently, culture turn-around-time has become the major concern of all those who are primary care providers for patients seeking help. We report a rapid method for obtaining cytogenetic results from amniocytes as early as 5 days. Early tapping and reducing the turn-around-time during cytogenetic analysis may provide an alternative to chorionic villi sampling.

Amniocentesis↗
PubMed1990

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Polymorphic DNA markers can now be used for presymptomatic and prenatal diagnosis of the autosomal dominant form of polycystic kidney disease (PKD). A detailed map is known for the chromosomal region around the PKD1 gene on the short arm of chromosome 16. We present here a simple, two step procedure for diagnosis of PKD1 by family studies. Using this approach, at least 92% of random subjects are informative for polymorphic DNA markers bracketing the PKD1 gene. The recombination rate between these flanking markers is on average 10%. In non-recombinants (90% of family members), the accuracy of diagnosis using DNA markers is greater than 99%. We conclude that sufficient well defined DNA markers are now available for routine diagnosis of PKD1. We recommend, however, that prenatal diagnosis of PKD by chorionic villi sampling should be attempted only after the linkage phase of the DNA markers has been established by haplotyping the index family. Since autosomal dominant PKD has been found to be genetically heterogeneous, families should be of sufficient size to rule out the rare form of PKD not caused by a mutation on the short arm of chromosome 16.

Chromosomes, Human, Pair 16↗
PubMed2001

Isolation of fetal cells from the maternal circulation: prospects for the non-invasive prenatal diagnosis.

The research into non-invasive and invasive prenatal diagnostic techniques developed almost in parallel. On the one hand the need was arising to ensure the birth of normal progeny in all cases, while on the other, it was not possible to eliminate the abortion risks connected with the invasiveness of amniocentesis (risk of abortion 1/200), chorion villi sampling, (risk of abortion 2%) and funicolocentesis (risk of abortion 3-4%). One of the first researchers in the non-invasive field was Adinolfi who published the earliest data in 1974 on the possibility of detecting three types of fetal cells in the maternal circulation using flow cytometry. Adinolfi suggested the possibility of using fetal cells present in the maternal circulation for prenatal diagnosis of chromosome or biochemical anomalies. Our review takes into consideration the latest methodological and technical progress in relation to the study of fetal cells in maternal circulation, without considering cells present in the endocervical canal where from the 8th week of pregnancy it is only possible to obtain trophoblast cells. This technique has since been abandoned due to the scarcity of cellular material available, the greater risk of contamination by cells of maternal origin, and also because the recovery of the cells is unpredictable, despite their potential use for the early non-invasive diagnosis of sex. The following issues are addressed in this review: the characterization of the fetal cell types present in the maternal circulation, the methods of their separation and enrichment, and the methods of genetic diagnostics applied.

Cell Separation↗
PubMed1993

Ultrasound in fetal diagnosis and therapy.

Ultrasonic diagnosis is indispensable in perinatal medicine. The applications are; 1) diagnosis of early pregnancy, 2) diagnosis of fetal life, 3) diagnosis of pregnancy weeks by fetal crown rump length, 4) evaluation of fetal growth by biparietal diameter, femur length, abdominal size, or estimated fetal weight, 5) detection of early abnormalities in blighted ovum, fetal death, hydatidiform mole, ectopic pregnancy, etc., 6) diagnosis of fetal anomalies, e.g. anencephaly, hydrocephaly, neck hygraoma, diaphragmatic hernia, congenital heart disease, intestinal obstruction, renal anomalies, obstructive uropathy, etc., 7) diagnosis of fetal diseases, e.g. hydrops fetalis, 8) diagnosis of placenta previa, hydramnios, oligohydramnios, cord coiling, excessive cord twisting, 9) detection and prediction of fetal compromise by fetal and uterine blood flow velocity wave forms, 10) further precise diagnosis by transvaginal sonography, 11) interventional ultrasound in genetic diagnosis with amniocentesis and chorionic villi sampling, fetal blood sampling with cordocentesis, 12) detection of fetal hypoxia by ultrasonic fetal monitor, fetal actocardiogram, and ultrasonic Doppler flowmetry.

Female↗
PubMed2001

[Prenatal diagnosis of beta-thalassemia. A study based in Calabria].

BACKGROUND: The aim of this study was to underline, given the well-known incidence of beta thalassemia in Calabria, the possibility of establishing a prevention programme based on an increased awareness among the population using information and health education, genetic consultancy to identify high-risk subjects and prenatal diagnosis. METHODS: Between January 1992 and December 1999, we analysed 181 high-risk couples for beta thalassemia using chorionic villi sampling (CVS) performed with an echoguided transcervical or transabdominal route. A steady rise was observed over the years in the number of couples asking for prenatal diagnosis, thus demonstrating that patients and doctors are increasingly aware of the importance of a correct prenatal diagnosis. The variability of molecular defects found and the number of complications linked to the technique used are underlined. RESULTS: Prenatal diagnosis revealed 46 fetuses with the disease (24.8%), 97 heterozygotes (53.2%) and 41 healthy fetuses (22%). Only one malformation was observed in the 41 healthy fetuses. The authors also report the incidence of complications linked to CVS. In overall terms, 2.2% of pregnancies ended in spontaneous abortions (4 cases) and 2.75% with preterm births (5 cases). These complications could not be correlated with gestational age at the time of biopsy or the number of attempts made to obtain an appropriate sample.

Female↗
PubMed2000

[Prediction of malignant transformation of hydatidiform mole by mRNA determination of matrix metalloproteinases and tissue inhibitor of metalloproteinases].

OBJECTIVE: To investigate the relationship between the messenger RNA(mRNA) levels of matrix metalloproteinases(MMP-9, MMP-2) and tissue inhibitor of metalloproteinase (TIMP-1, TIMP-2) and malignant transformation of hydatidiform mole. METHODS: Total RNA were isolated from tissues of 22 normal chorionic villi samples and 37 cases of hydatidiform mole. The mRNA expression of MMP-9, MMP-2, TIMP-1, TIMP-2 genes were determined by RT-PCR. RESULTS: The differences of the mRNA expression of MMP-9, MMP-2, TIMP-1, TIMP-2 genes in the tissues of hydatidiform mole and normal preganacy villus were not significant (P > 0.05). The ratio of MMP-9/TIMP-1 in molar tissues with malignant transformation was higher than those in molar tissues without malignant transformation and in normal villus. CONCLUSION: It is a correlative relation beween MMP-9/TIMP-1 and malignancy of hydatidiform mole. The ratio of MMP-9/TIMP-1 might be used as an index for prediction of malignant transformation of hydatidiform mole.

Adult↗
PubMed1991

An evaluation of the polymerase chain reaction for detection of alpha-globin genes in the prenatal diagnosis of alpha zero-thalassaemia.

Homozygous alpha zero-thalassaemia results in the fatal disease Bart's hydrops foetalis and since 3-4% of Singaporeans carry the alpha-thalassaemia genes, prenatal diagnosis of thalassaemia is essential. The aim of this study was to establish the polymerase chain reaction (PCR), a method that enables selective amplification of the 136 base pair (bp) region within the alpha-globin gene cluster, as a routine test for the prenatal diagnosis of homozygous alpha zero-thalassaemia. Confirmation of PCR results was performed using DNA gene mapping and electrophoresis of cord blood. DNA was extracted from 24 chorionic villi samples and the presence of the alpha-globin genes was determined by PCR. The results showed that the optimal number of amplifications for accurate diagnosis was 50 cycles. Homozygous alpha zero-thalassaemia was detected in four foetuses and the pregnancies terminated. Confirmation of alpha zero-thalassaemia by DNA gene mapping and electrophoresis of cord blood showed absence of alpha-globin genes and only Hb Bart's respectively. The remaining 20 foetuses were correctly diagnosed as normal or possessing the alpha-thalassaemia trait. Using the PCR at less than 50 cycles of amplification (example 35 cycles), false positive results were obtained in 30% of cases. We conclude that DNA amplification using the PCR offers an accurate method of prenatal diagnosis of alpha zero-thalassaemia. Its advantages over the more establish gene mapping method include a more rapid analysis (three days compared with ten days by gene mapping) and the requirement of only minute amounts of DNA (1 microgram) for analysis. It is however, essential that the optimal number of amplification cycles be established so that false positive results may be avoided.

Chromosome Mapping↗
PubMed1990

[Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy].

Propionic acidemia is a rare hereditary disease which is an autosomal recessive disorder. Defect of propionyl CoA carboxylase results in abnormal accumulation of propionate and its metabolites which interfere the pathway of glycine cleavage and the urea cycle. This organic acidemia is characterized by a wide spectrum of clinical and biochemical findings, including recurrent vomiting, difficult feeding, lethargy, hypotonia, metabolic ketoacidosis, hyperglycinemia and hyperammonemia during the acute episodes. We present a male newborn infant who sustained this disorder and was managed successfully with blood exchange transfusion, peritoneal dialysis, supplemented with sodium benzoate and sodium bicarbonate therapy. Urine gas chromatography disclosed significant elevation of propionate and its metabolites which subsided 2 days after peritoneal dialysis. Special designed formula was then given with restriction of protein intake and supplement with sodium benzoate and sodium carbonate. Prenatal genetic counseling is necessary in further pregnancy. Diagnosis can be obtained when propionyl CoA carboxylase activity is low in cultured amniotic fluid cells or chorion villi sample or when there is abnormally high methylcitrate level in amniotic fluid.

Benzoates↗