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PubMed2001

Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis.

Coffin-Lowry syndrome is a rare X-linked, semi-dominant mental retardation syndrome resulting from mutations of the ribosomal S6 kinase 2 (RSK2) gene. In the present report, a male patient affected with Coffin-Lowry syndrome is shown to have a nonsense mutation of the RSK2 gene. His unaffected mother does not have this mutation in her lymphocytes. In her third pregnancy prenatal diagnosis by mutation analysis has detected gonadal mosaicism. As this is the second report of germinal mosaicism in Coffin-Lowry syndrome, the finding has important implication for genetic counselling.

Adult↗
PubMed2002

Diagnosis and management of foetal nomalies.

Prenatal diagnosis of foetal anomalies and their management by invasive and non-invasive techniques are discussed. Early diagnosis allows the parents to organise appropriate neonatal management for sublethal and correctable anomalies while termination of early pregnancy is an option for lethal anomalies.

Biomarkers↗
PubMed2001

[Prevention of fragile X syndrome by prenatal genetic diagnosis: advantages and controversial aspects].

INTRODUCTION: Fragile X syndrome is the most common cause of hereditary mental retardation. Since the molecular mechanism causing it (anomalous expansion of the CGG triplet in the FMR1 gene and hypermethylation of its CpG island) was identified exactly ten years ago, it has been possible to give families in whom the syndrome is transmitted completely reliable prenatal genetic diagnosis of this. OBJECTIVE: To report and discuss our experience in this field from 1994 to the present time. PATIENTS AND METHODS: During this period we performed 15 prenatal diagnoses: 14 in samples of chorionic villi from 13 pregnancies (one a twin pregnancy) and 1 using amniotic fluid. In all cases we used Southern blot molecular techniques with the StB12.3 probe, the PCR of CGG triplet and DXS548 in some cases. RESULTS: Nine fetuses were normal. Of the other six foetuses, three had full mutation, one had deletion of the FMR1 gene, another was premutated and another had an allele in the grey zone (50 repetitions). CONCLUSIONS: Molecular prenatal diagnosis of SXF is fast and 100% reliable, although from the technical point of view it is complicated and requires use of various molecular techniques. From the clinical point of view, the low rate of mutations found assures offspring, although molecular studies do not predict mental 'status' in either girls with complete mutation or children with permutation.

Female↗
PubMed2003

X-linked hydrocephalus: another two families with an L1 mutation.

X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for L1CAM. This gene is located at Xq28. Clinically the spectrum ranges from males with lethal congenital hydrocephalus to mild/moderate mental retardation and spastic paraplegia. Few carrier females show minimal signs of the syndrome. Although most cases are familial, de novo situations have been reported. We report two new families with the syndrome and a L1 mutation. Family 1 has two patients and family 2 a single patient. Clinical diagnosis in all three affected boys was beyond doubt. Prenatal testing through chorionic villus biopsy is possible only with a demonstrated L1 mutation. In lethal sporadic cases neuropathology is very important in order to evaluate for features of the syndrome. We stress the importance of further clinical reports including data on neuropathology and DNA analysis in order to further understand the mechanisms involved in this disorder.

Child↗
PubMed2003

Prenatal ultrasonographic diagnosis of a recurrent case of Johanson-Blizzard syndrome.

We report on ultrasonographic prenatal diagnosis of a recurrent case of Johanson-Blizzard syndrome. The pregnancy was terminated at 21 weeks'. This observation highlights the great variability of the expression of this syndrome, including in the same family, and the necessity of collaborating with an experienced geneticist in all antenatal diagnosis of any complex of abnormalities.

Abnormalities, Multiple↗
PubMed2003

Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.

We report on two male siblings with partial trisomy 2p22-pter and partial monosomy 15q26-qter resulting from a maternally derived translocation t(2;15)(p22;q26). Both fetuses had different neural tube defects (craniorachischisis in the first fetus and anencephaly in the second fetus) which were detected by sonographic examination at the end of the first trimester of pregnancy. This report demonstrates the importance of chromosomal analysis in the etiologic exploration of neural tube defects and supports the importance of 2p24 triplication in neural tube development.

Anencephaly↗
PubMed2002

Histological and ultrastructural investigations of placenta villi in intrauterine growth restriction of fetuses (IUGR).

The investigations were carried out on five placentas derived from normal pregnancies and on the five placentas derived from the pregnancies with intrauterine growth restriction (IUGR) of fetuses. Semithin sections were stained with methylene blue and azure and estimated by light microscope. Ultrathin sections were stained according to the Reynold's method and estimated by the electron microscope. Two types of irregularity were observed: 1) lack of vessels with a concomitant increase of macrophage number in the stroma of villi, 2) an increased number of vessels and the presence in syncytiotrophoblast of a wide space near the basal membrane preventing the exchange between the maternal blood and the fetal blood.

Chorionic Villi↗
PubMed1992

Allele frequencies of cystic fibrosis-linked markers and F508 deletion in affected Hungarian families.

Linked marker haplotype analysis of 16 cystic fibrosis (CF)-affected children, 3 fetuses, 1 healthy child and their parents was performed by restriction fragment length polymorphism (RFLP) for J3.11, Met H, Met D, XV-2c, KM.19 markers. Polymerase chain reaction (PCR) to detect the main mutation of CF chromosome, a specific 3 base pair (bp) deletion (delta F508) was also performed in 17 CF patients. Allelic frequencies on analysed CF chromosomes were: J3.11/Taq I 1.0, 0.0, J3.11/Msp I 0.44, 0.56, Met H/Taq I 0.73, 0.27, Met H/Msp I 0.80, 0.20, Met D/Taq I 0.75, 0.25, XV-2c/Taq I 0.85, 0.15, KM.19/Pst I 0.17, 0.83 for allele 1 and 2, respectively. Two markers, Met H and KM.19 were found to be in strong association with the CF mutation. The frequency of the delta F508 mutation on all 34 CF chromosomes was 0.65 (of which 0.73 was homozygous and 0.27 heterozygous for this deletion).

Adult↗
PubMedDate not supplied

Lysosomal enzyme activities in frozen, non-cultured chorionic villi for prenatal diagnosis of enzymopathies.

Normal reference values of lysosomal enzyme activities (alpha-glucosidase, mannosidase, fucosidase and arylsulfatase-A) were determined in chorionic villi obtained from artificial abortion in the first trimester of normal pregnancies (gestational weeks 6 to 11). Villi were homogenized comparatively either in saline or in Triton X-100 detergent. The alpha-glucosidase, mannosidase and arylsulfatase-A enzyme activities significantly diminished if homogenization was done in saline instead of Triton-X while the difference in fucosidase activity was not significant. Significant correlation was detected between alpha-glucosidase activity and week of gestation. It is suggested that Triton X-100-homogenization should be used for the lysosomal enzyme determinations in chorionic villi because the solubilization of enzymes from the lysosomes is complete in this case than with homogenization in saline.

Abortion, Induced↗
PubMed1992

Molecular screening of partners of cystic fibrosis heterozygotes.

We have screened 100 partners of known or suspected CF heterozygotes for ten CF mutations which account for 88% of the CF mutations seen by us on CF chromosomes. We have identified six CF heterozygotes amongst the 100 low-risk people screened. As two of the six people at high-risk of being CF carriers were subsequently shown not to be CF carriers this gave rise to four couples with a one in four risk of CF in a pregnancy and so far to two PND's. The risk of CF in the remaining 94 couples was reduced to less than one in 800. We have concentrated on the screening of partners for the commoner CF mutations rather than haplotyping them for the CF linked markers XV-2c/TaqI and KM19/PstI which are in linkage disequilibrium with CF. For individuals shown not to carry these ten mutations, a five fold difference in risk of being a CF carrier remains between those who have the XV-2c/KM19 genotypes associated with the highest risk(BB), as compared to those with the lowest risk(CC). Nevertheless we feel that effort is better expended in mutation screening rather than haplotyping.

Chorionic Villi Sampling↗
PubMed1992

[Use of modern methods in prenatal diagnosis of congenital adrenal hyperplasia--examination protocol].

The prenatal diagnosis of congenital adrenal hyperplasia (CAH) in the second trimester of gestation (as done so far in this country) is late and unsuitable with regard to possible interruption of pregnancy. Modern methods of early prenatal diagnosis are based on examination of material from chorionic villi (6th-10th week of gestation) or early amniocentesis (10th-12th week of gestation). The authors present their decision taking scheme, examination protocol and their own experience with the use of molecular genetic analysis and assessment of 17-hydroxyprogesterone from early amniocentesis in the prenatal diagnosis of CAH. This procedure is a priority in this country.

Adrenal Hyperplasia, Congenital↗