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PubMed2006

[Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)].

OBJECTIVE: Mucopolysaccharidosis type II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked recessive lysosomal storage disease resulting from a deficiency of iduronte-2-sulphate sulphatase (IDS). The present study aimed to establish an enzyme assay method for IDS activity for carrying out postnatal and prenatal diagnosis of MPS II by means of IDS activity assay on plasma, uncultured chorionic villi (CV) and cultured amniotic fluid cells (AF cell) using a new synthesized substrate. METHODS: A fluorigenic substrate (4-methylumbelliferyl-alpha-iduronate-2-sulphate, MU-alpha-Idu-2S) was used for the assay of IDS activity. IDS activity in plasma was determined for diagnosis of the proband. Prenatal diagnosis in 10 pregnancies at risk was carried out according to IDS activity on uncultured CV at 11th week or on cultured AF cell at 18th week of gestation. At the same time, IDS activity was also determined in the maternal plasmas to observe the change of IDS activity in pregnancy. The fetal sex determination was performed by PCR amplification of the ZFX/ZFY genes. RESULT: The IDS activity in plasma of normal controls and obligate heterozygotes were 240.2 - 668.2 nmol/(4 hxml) and 88.7 - 547.9 nmol/(4 hxml), respectively, while the enzyme activities in plasmas were in the range of 0.3 - 18.6 nmol/(4 hxml) in affected male. The IDS activities were 37.2 - 54.9 nmol/(4 hxmg protein) and 21.4 - 74.4 nmol/(4 hxmg protein) in CV and cultured AF cells respectively. Out of 50 suspected cases, 46 were diagnosed as having MPS II and 4 were excluded. Prenatal diagnosis was performed on 10 pregnancies at risk. Four of 5 male fetuses [IDS activity were 4.7, 1.8, 7.0 nmol/(4hxmg protein) in CV, 0.6 nmol/(4 hxmg protein) in AF cell] were diagnosed as having MPS II and the other 5 fetuses were normal females [IDS activity were: 48.7, 5.9, 25.2 nmol/(4 hxmg protein) in CV, 55.2, 40.9 nmol/(4 hxmg protein) in AF cell]. Increased IDS activity was observed in plasma of the pregnant women with unaffected fetuses, while the IDS activity decreased in pregnancies with affected fetuses. IDS activity of one female fetus was very low [5.9 nmol/(4 hxmg protein)], but the IDS activity in maternal plasmas increased, this fetus was a normal female. CONCLUSIONS: The method using a synthesized fluorigenic 4-methylumbelliferyl-substrate was a sensitive, rapid and convenient assay of IDS activity and was reliable for early prenatal diagnosis. Determination of fetal sex would be helpful in excluding the female fetus with low IDS activity from being considered as an affected male fetus. It would be further helpful if IDS activity in maternal plasma was taken into account.

Amniotic Fluid↗
PubMed1992

Prenatal diagnosis of severe dermatologic diseases.

It is obvious that the nature of prenatal diagnosis of severe or lethal skin conditions is rapidly evolving. New molecular, enzymatic, and ultrastructural markers will become available. The biochemical base of many of these disorders will become known and the accuracy and utility of in utero diagnosis will improve. We wish to make one point again. The field is rapidly outpacing the ability of review articles to keep current. We urge you to refer to a genetic center for information when you are dealing with a situation in which prenatal diagnosis may be an issue.

Amniocentesis↗
PubMed1991

[Chromosome analysis in spontaneous abortion using direct preparation of chorionic villi].

Two hundred cases of spontaneous abortions were studied by analysing chromosomes directly from chorionic villi. Abnormal karyotypes were found in 52% of the investigated cases. Among the chromosome abnormalities the most frequent were the trisomies (56.7%) followed by polyploidy (23.1%), monosomy X (15.4%) and structural anomalies (4.8%). The rapid and relatively simple method is suitable for studying the causes of spontaneous abortions, and these information may be helpful also for genetic counselling.

Abortion, Missed↗
PubMed1991

Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.

Two cases of beta-glucuronidase deficiency (mucopolysaccharidosis VII), presented with fetal hydrops at 20 and 26 weeks of gestation. The enzyme deficiency was observed in cultured amniotic fluid cells and in fetal plasma from cord-blood and was confirmed after termination of pregnancy. A third case presented with transient ascites at 6.5 months of gestation. Mild dysmorphic features at birth and gradual neurological deterioration were observed. Deficiency of beta-galactosidase was documented confirming a GM1 gangliosidosis. Evidence has accumulated that fetuses affected by lysosomal diseases, may present with transient or persistent hydrops fetalis. The exact frequency is however not known. Further diagnostic studies in persistent or transient hydrops fetalis, looking for lysosomal and other metabolic diseases, whenever major causes of hydrops fetalis have been excluded, are therefore indicated. Amniocentesis and cordocentesis should always be performed.

Chorionic Villi Sampling↗
PubMed1991

[Morphology of the chorion based on biopsy in threatened spontaneous abortion].

70 chorion biopsies (CB) were studied morphologically under the conditions of a spontaneous abortion. Within the first trimester of the pregnancy the diagnosis of progressing, regressing and non-perspective pregnancy proved possible. The comparison of the histological examination of biopsies, endometrium scrapes and placenta with clinico-biochemical results indicates an important diagnostical and prognostical value of CB helpful in choosing corrective therapy for conservation of the pregnancy under a favourable prognosis.

Abortion, Threatened↗
PubMed1991

[Chorionic villi biopsy as an alternative to amniocentesis].

The results of a retrospective assessment of the first 112 chorion villus biopsies carried out in the Department of Obstetrics and Gynaecology in the Central Hospital in Randers are presented. Karyotype determination was obtained in 98.2% and in 83.9% already by means of direct microscopic examination after incubation for 24 hours. No complications which could be attributed to the biopsies were registered. The present authors consider that the method should be employed more extensively for prenatal cytogenetic diagnosis.

Adult↗
PubMed1991

[Genetic counseling in prenatal diagnosis of cystic fibrosis].

In this paper we discuss the possible results of post- and prenatal DNA-diagnosis in cystic fibrosis with respect to the modification of the risk of having an affected child, depending on how closely the affected patient is related to those seeking advice. For parents with an affected child post- and prenatal DNA-diagnosis yields very reliable results and is an important factor in their decision process. In contrast to this, DNA-diagnosis for other relatives or individuals without an affected family member can lead to results which may intensify conflicts of decision making. This stresses the growing importance of genetic counseling before and after genetic diagnostic measures for cystic fibrosis.

Chorionic Villi Sampling↗
PubMedDate not supplied

[The value of placental histology for the detection of genetically-induced abortions].

The majority of early spontaneous abortions is caused by genetic disorders. Chromosomal aberrations do not only imply characteristical morphologic alterations in embryo/fetus, but also in chorionic villi. Its possible to draw conclusions through the combination of a small amount of histological findings on chorionic villi to explain the kind of aneuploidy. Among 968 early spontaneous abortions 18.3% were defined as genetically caused by histological examination. 87.6% are probably trisomies, 7.3% polyploidies. 5.1% were diagnosed as complete hydatidiform moles with a diploid, androgenetic chromosome set. The value of histological examination of early spontaneous abortion tissue are discussed and it is pointed out to remaining problems. In a different percentage it is possible to establish the type of aneuploid by microscopic examination alone. Frequently there are sings to allow the conclusion there is a developmental disorder like genetic aberration.

Abortion, Incomplete↗
PubMed1991

[Prenatal diagnosis and its consequences].

The use of chorionic villi biopsy and amniocentesis as methods of the targeting and invasive prenatal diagnosis involves consecutive problems, which must be balanced with the medical legalization of both procedures.

Amniocentesis↗
PubMed1991

[Results of the cytogenetic prenatal diagnosis in the first and second trimesters of pregnancy].

The authors analyze the results of prenatal diagnosis carried out in women during the first and second pregnancy trimesters. Cytogenetic screening was carried out in risk-group pregnant women, i.e. in women aged over 36, in cases with family history of chromosome mutation or a previous child with chromosome aberration, or a sex-linked disease in one of family members, etc. Chromosome preparations from amniotic fluid cell cultures and 'direct' chromosome preparations from chorionic villi were analyzed. The authors discuss the efficacy of prenatal diagnosis in various pregnancy periods, fetal tissue collection methods and quantities necessary for the examination.

Adult↗
PubMed1990

Prenatal determinations of paternity by molecular genetic "fingerprinting".

Clinical situations that require determining the paternity of a fetus are diagnostic dilemmas. Numerous technical problems have significantly hampered the ability to make accurate predictions on tissues obtained early in gestation. Applying the technique of molecular genetic "fingerprinting" in two gestations in which parentage was uncertain, we found that paternity can be established readily using DNA obtained from amniocytes or chorionic villi. The accuracy of this method exceeds that of conventional protein-based assays and is not decreased by variations in gene expression. Multiple analyses can be performed on restriction endonuclease digests of DNA present in very small amounts of cellular material normally obtained by routine prenatal diagnostic techniques. The simplicity, speed, reliability, and accuracy of molecular genetic analysis make it ideally suited to address questions of familial relationship in the prenatal period.

Adult↗
PubMed1990

[Strategies in prenatal diagnosis of cystic fibrosis after the introduction of DNA analysis. Initial experience].

The authors describe their experience with the prenatal genetic diagnosis of cystic fibrosis (CF), using DNA analysis in the first trimester of pregnancy in three families with a 25% risk of CF. The authors examined polymorphisms of probes J3.11, met D, met H, KM-19 and XV-2c. All families were fully informative when one or two probes were used. In two families the development of unaffected children--carriers of the gene for CF was proved. In one of these foetuses in the 17th and 21st week false pathological values of microvilillous enzymes were assessed. With regard to this possibility the authors do not recommend to supplement the DNA analysis in the first trimester by biochemical examination of amniotic fluid. The results were confirmed by delivery of unaffected children. In one family DNA analysis revealed the development of an unaffected homozygote, the pregnancy was, however, terminated by a miscarriage. In women with an increased risk of abortion the authors recommend therefore to make the molecular genetic examination during the second trimester from amniotic fluid cells.

Chorionic Villi Sampling↗
PubMed1990

Prenatal diagnosis of hemophilia A by DNA analysis of chorionic villi.

Hemophilia A is an X-linked recessive single gene disease. If a female is a carrier, her sons have a 50% risk of being affected. Five gravidas, each with a positive family history of hemophilia A, were collected for prenatal diagnosis using DNA analysis on chorionic villi. We used two closely linked extragenic DNA markers, St14 and DX13, and three restriction enzymes, TaqI, MspI, and BglII, to study four restriction fragment length polymorphisms in the Xq28 region. From family analysis, haplotypes were constructed to track the inheritance of X-chromosomes. In family 1, the male fetus inherited the X-chromosome from his normal grandfather, thus his probability of being affected was predicted to be less than 5%. In families 2 and 3, the gravidas inherited the maternal X-chromosome with a different haplotype from that of the affected brother or nephew, thus they both have a low probability (less than 5%) of being carriers. In family 4, the gravida and her male fetus inherited the same X-chromosome as her affected brother. With coagulation assay also showing a high probability of the gravida being a carrier, the fetus was at high risk for the disease. On pregnancy termination, fetal plasma analysis confirmed the diagnosis. In family 5, the gravida's mother had homozygous haplotypes, making the distinction between two X-chromosomes impossible. Coagulation assay classified the gravida as a probable carrier.(ABSTRACT TRUNCATED AT 250 WORDS)

Chorionic Villi Sampling↗