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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↗
PubMed1990

[An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia].

Anhidrotic ectodermal dysplasia is an X-linked inherited skin disorder; only affected males exhibit the complete syndrome, whereas females may have a few mild features. The gene involved in this disease is located in the proximal area of the long arm of the X chromosome, in the q13 position. Molecular analysis is very helpful for calculating the risk of transmission in sisters with normal phenotypes and affected individuals (family 1 provides an example), but cannot solve all problems (example of family 4). The best results are obtained when there are two informative markers, each located on either side of and very close to the mutant gene. Molecular analysis can also be applied to chorionic villi sampled at the tenth week of gestation in order to achieve antenatal diagnosis in male fetuses in high risk families. Until recently, antenatal diagnosis could be performed only at the twentieth week of gestation by the demonstration of inadequate development of skin glands in skin biopsy specimens sampled under fetoscopy. Family 2 provides an example of antenatal diagnosis and highlights the risk of error that always exists in molecular analysis studies.

Ectodermal Dysplasia↗
PubMedDate not supplied

[Interventional ultrasound in obstetrics and gynecology].

During 1988 there were 1029 invasive obstetrical and gynecological ultrasonically guided procedures: 788 early amniocenteses and 84 late amniocenteses, 26 chorion villi sampling, 24 by transcervical and 2 by transabdominal route, 74 fetal blood sampling (chordocenthesis) mainly for fetal karyotyping, in 9 cases the assessment of the fetal acid-base status was the main indication for the procedure. There was one patient with the increased risk of epidermolysis bulosa in whom fetal skin biopsy was performed. Prostaglandine was administered intraamnially under ultrasound control in 44 cases, in which the second trimester termination of pregnancy was indicated for medical reasons. In 3 cases a huge polyhydramnion was evacuated and in one case of several fetal hydrocephaly, craniocentesis and aspiration of the cerebral fluid were performed. There was one selective fetocide in twin pregnancy with a large meningomyelocele in one twin. In one case of a nonimune fetal hydrops at the 27-week gestation, the aspiration of the accumulated fluid and the intraperitoneal injection of albumin at 27 and 34 weeks, respectively, were performed. A total number of 6 gynecological invasive ultrasonically guided procedures was done. Three of them were punctures of ovarian follicles as part of IVF programme, one puncture of a large simple ovarian cyst, and two aspirations of extrauterine pregnancy with the administration of Metotrexate.

Female↗
PubMed1989

[A preliminary report of the fetal effects of dengue infection in pregnancy].

This Manuscript was read at the Clinical Aspects on Dengue Fever and Dengue Hemorrhagic Fever held at Kaohsiung Medical College, Kaohsiung City, Taiwan, Republic of China, November 13, 1988. There is not enough evidence to prove that the dengue virus will cause teratogenicity, abortion, or intrauterine growth retardation of a fetus during pregnancy. Nine cases of women infected with dengue fever in early pregnancy received amniocentesis (or chorion villi sampling) in the Department of Obstetrics and Gynecology, KMCH. The chromosome analysis revealed that all were normal, and the level of alpha-fetoprotein in amniotic fluids and maternal sera were within normal range. Antibodies to the dengue virus in the dengue infected mother can cross the placenta and transfer to the fetus, which can cause new born infants to develop dengue hemorrhagic fever or dengue shock syndrome easily when they are primarily infected with dengue virus. Anti-dengue activity was found in the lipid component of human milk and colostrum. This suggests that breast feeding will protect the infant from the dengue virus in the endemic area of dengue infection.

Abortion, Spontaneous↗
PubMed1989

Placental mosaicism and intrauterine survival of trisomies 13 and 18.

Cytogenetic analysis of 14 placentas from live newborn infants or from terminated pregnancies with trisomies 13 and 18 revealed that all were mosaic. The mosaicism was confined to the cytotrophoblast and not detected in villous stroma, chorionic plate, or amnion. The percentage of cells with a normal karyotype varied from 12% to 100%, the average being 70%. No such confined mosaicism could be detected in 12 placentas of trisomy 21 fetuses. These findings suggest that a postzygotic loss of a trisomic chromosome in a progenitor cell of trophectoderm facilitates the intrauterine survival of trisomy-13 and -18 conceptuses. They also imply that it is placental function which determines the intrauterine survival and that the mother plays no active role in rejection of trisomic conceptions. The combination of both a pre- and post-zygotic cell division defect in viable trisomy-13 and -18 conceptions points to the possibility of a genetic predisposition to such events. The detection of only a diploid cell line in the cytotrophoblast of some pregnancies with trisomies 13 and 18 also suggests that direct preparation is unreliable for prenatal diagnosis of these trisomies on chorionic villi sampling and that long-term villous culture should be used.

Abortion, Spontaneous↗
PubMed1988

[Gene technology from the viewpoint of genetic counseling].

Gentechnology detects genetic defects at the DNA level. Direct analysis, which may be performed without family investigations, is the most reliable and therefore the most desirable means of detection. Indirect analysis on the other hand-using restriction fragment length polymorphisms (RFLP) - requires family investigations and the pedigrees are not always informative; furthermore, meiotic recombination may occur leading to erroneous conclusions. Pre-symptomatic diagnosis of a severe disease may cause serious psychical and ethical problems. Prenatal diagnosis by gentechnology may be made after amniocentesis or chorionic villi sampling.

Adult↗
PubMed1987

The prevention of genetically determined orthopaedic defects.

Prevention of genetically determined orthopaedic disorders requires five steps: detection, the establishment of an accurate and specific diagnosis, the establishment of the pattern of inheritance, counseling, and management by early treatment, avoidance of pregnancy, or elective abortion. Elective abortion should only be considered after the diagnosis has been confirmed in utero by one or more diagnostic tests, which include radiography, ultrasound, amniocentesis, fetoscopy, fetal blood sampling, and chorionic villi biopsy sampling.

Bone Diseases, Developmental↗
PubMed1987

Low fetal loss rates after ultrasound-proved viability in early pregnancy.

Once pregnancy is recognized clinically, it is accepted that 12% to 15% undergo spontaneous abortion. However, the actual time of fetal demise has not yet been determined. To address this question, the outcomes of pregnancies identified before 21 days of conception by serum beta-human chorionic gonadotropin assays were studied. All subjects underwent ultrasound examinations at eight and 12 weeks' gestation. Among 220 women who had a viable pregnancy at eight weeks, only seven (3.2%) experienced a fetal loss thereafter. The results of this study suggest that most clinically recognized spontaneous abortions manifested after eight weeks actually represent pregnancies in which fetal demise occurred before eight weeks. These findings have important implications with respect to the safety of chorionic villi sampling and to the identification of exogenous agents that cause fetal wastage.

Abortion, Spontaneous↗
PubMed1996

[Significance of hyper-echogenic yolk sac in first-trimester screening for chromosome aneuploidy].

Recently, the measurement of the thickness and extent of the first-trimester posterior simple embryonic hygroma by vaginal ultrasound has become the most efficient method in the antenatal screening for chromosomal aneuploidies. The sensitivity of the screening is only 75-90%, therefore, the search for other potential (sonographic) markers is needed in order to increase the efficiency. Ultrasound measurement of the echogenicity and the diameter of yolk sac and the thickness of dorso-posterior simple embryonic hygroma was carried out in 3620 first-trimester pregnancies between 9-11 weeks. A total of 105 embryos with simple hygroma of > or = 3 mm and 39 pregnancies with abnormal, hyperechogenic yolk sac of 1.8-4.0 mm in diameter were detected. Cytogenetic analysis through chorionic villi samples revealed chromosomal aneuploidies in 52 cases. In 19 of 3620 pregnancies both hyperechogenic yolk sac and first trimester simple hygroma were present. Each of these 19 pregnancies were chromosomally abnormal. Hyperechogenic yolk sac alone was present in another 20 pregnancies with otherwise normal fetal findings. The authors could not accomplish sonographic identification of the yolk sac in 42 pregnancies. In conclusion, combined presence of hyperechogenic yolk sac plus first-trimester simple hygroma of 3 mm or more in the same pregnancy is highly associated with chromosomal aneuploidy between the 9-11 gestational weeks.

Aneuploidy↗
PubMed1997

[Genetics of Fragile X syndrome and its prevention].

The fragile X syndrome is the most common inherited form of mental retardation. Its prevalence is estimated to be one in 1000-4000 males and one in 2000-6000 females, depending of the region. A large canadian population study in Quebec has shown a frequency of 1/260 carrier women. The fragile X syndrome was the first disease shown to be associated with "dynamic mutations", caused by an amplification of an unstable DNA sequence transmitted from generations to generations till a pathologic expression: mental retardation. The prevention is possible by a specific DNA analysis of patients and male and female carriers. It is possible to detect the mutation or the premutation in pregnant women and to propose a prenatal diagnosis by molecular study on chorionic villi samples or cultivated amniocytes.

Female↗
PubMed1997

The invasive prenatal diagnosis in perinatal centre.

Three main methods of prenatal diagnosis (Amniocentesis AMC, Chorionic villi sampling CVS and Cordocentesis FBS) have been used in Perinatal Centre of Central Bohemia. The chromosomal abnormalities in a group of 3,098 patients have been detected in 1.4% of fetuses. The inherited disorders were diagnosed using DNA analysis and biochemical examination of amniotic fluid. X-linked diseases in a group of 68 patients in 30.8% of fetuses have been diagnosed and inborn error of metabolism in a group of 29 indicated patients in 17.2% of fetuses were diagnosed. The incidence of fetal losses before 28th week of gestation was 0.4%.

Chromosome Aberrations↗
PubMed1986

Cytogenetic analysis of chorionic villi: a technical assessment.

Eighty-five samples of chorionic villi from women undergoing prenatal diagnosis at 8 to 12 weeks' gestation were subjected to cytogenetic analysis. Samples were prepared by a direct technique that permits limited analysis within two hours and by a short-term culture technique that permits detailed structural analysis within one week. An adequate number of cell divisions for cytogenetic analysis was obtained from 96% of living fetuses. Using both the direct technique and short-term culture, satisfactory banded chromosomal preparations were made in 93% of cases. Eleven of 12 pregnancies (92%) shown by ultrasound to be dead shortly before sampling, had cytogenetic abnormalities. Further studies are needed to develop banding definition equivalent to that available on cultured amniocytes.

Adult↗
PubMed1987

[Transcervical chorion biopsy--hitherto experiences and results of more than 200 cases].

This is a report on more than 228 chorionic biopsies performed at the Department of Gynaecology of the University of Heidelberg. After having completed the pilot study (about 100 cases before planned termination of pregnancy) with a success rate of 87% in obtaining useful chorionic villi we initiated chorionic biopsy for diagnostic purposes. A cytogenetic result was obtained in 95% of all cases after the villi had been sampled, using the method of transcervical aspiration. In 1% of the cases the obtained tissue could not be used; in another 1% a chromosomal mosaic-like pattern was seen, whereas in 3% of the cases no cytogenetic result was obtained despite the fact that partly the available tissue quantities were quite sufficient. No false sex diagnosis was made in any of the examined cases. In 98% of all instances of sampling of chorionic villi, a sufficient amount of useful chorionic villi tissue was obtained. Vaginal bleeding after chorionic biopsy occurred only in about one-third of the cases within 1-7 days after sampling. In another third of the patients questioned accordingly, no vaginal bleeding was reported following chorionic villi sampling. The remaining patients stated that there had been only short-term haemorrhages after biopsy. 122 of 226 patients have since delivered, 39 are at present in the 16th to 28th week of gestation, 41 beyond the 28th week and the remaining 13 were before the 16th week at the time they were questioned. Abortion or foetal death after chorionic biopsy was seen in four cases only (1.8%). No malformations were seen so far in the delivered infants.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1997

[Transabdominal chorionic villi and placental biopsy: rapid karyotyping in the 1st-3rd trimester of pregnancy].

AIM: The diagnostic value and the complication rate of transabdominal chorionic villi and placental sampling was compared with standard amniocenteses. The method ist especially helpful in cases with conspicuous fetal sonographic findings. METHODS: The results of 475 biopsies were retrospectively compared with 983 amniocenteses and chorionic villi samplings (CVS). RESULTS: 64% of chorionic villi samplings (CVS) were performed in the first, 30% in the second and 6% in the third trimester. The indications were advanced maternal age (45%) and psychological problems (14%) in the first trimester and conspicuous maternal serum markers (11%) or fetal ultrasound anomalies (12%) in the second and third trimester, respectively. 10 out of 20 aneuploid cytogenetic results were found in fetuses with sonographic anomalies. In 4 cases we found confined placental mosaicism, which was clarified by means of amniocentesis and cordocentesis. We had 8 miscarriages in a total of 475 CVS procedures; 6 in 304 before the 15th week of gestation (1.97%). The natural abortion rate in this gestational age is about 1%, the CVS-related abortion rate therefore is near 1%. CONCLUSION: Transabdominal CVS is a low risk method for rapid karyotyping during the entire pregnancy.

Adult↗