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PubMed1997

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia.

We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygotes (2 males and 1 female), and 14 healthy heterozygotes (7 females and 7 males). These data were collected over 4 years. In 16 fetuses, the diagnosis was made with measurements of 17-hydroxyprogesterone (17-OHP) and delta-4-androstenedione (delta) in amniotic fluid (AF), human leukocyte antigen (HLA) typing of amniotic cells, as well as karyotypes between the 16th and 18th weeks of gestation. In 4 fetuses, DNA analysis of amniotic cells was also performed. In 3 pregnancies in which affected fetuses were suspected (on the basis of HLA typing and measurements of 17-OHP and delta concentrations in AF), the fetuses were electively aborted between the 17th to 19th weeks of gestation by parental decision. In all aborted fetuses, diagnosis was confirmed with HLA typing, autopsy findings of hyperplastic adrenal glands, and ambiguous genitalia in female fetuses. Postnatal diagnosis was confirmed in healthy fetuses with HLA typing and serum measurements of 17-OHP concentrations, and in 4 of them with DNA analysis. In 3 of the 4 families, DNA analyses revealed the following mutations: in Family 1, the index case mutation was Intron 2, Exon 3/Exon 6, and the fetus was Normal/Exon 6; in Family 2, the index case mutation was Ex1 Int2 Ex3/ Int2, and the fetus was Ex1 Int2 Ex3/Normal; and in Family 3, the index case mutation was Ex8(356)/Ex8(356), and the fetus was Ex8(356)/ Normal. We also report one case of prenatal diagnosis and treatment. Dexamethasone 0.5 mg BID (20 micrograms/kg/d) was given starting at 6th week of gestation. Prenatal diagnosis suggested, but did not prove, that the female fetus was a heterozygote as the fetus lacked the paternal mutation Ex8(318). No mutation was found in the mother. The fetus, the mother, and the affected sib shared a haplotype, further suggesting heterozygosity. The unaffected status was confirmed postnatally.

17-alpha-Hydroxyprogesterone↗
PubMed1999

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

Ornithine transcarbamylase (OTC) deficiency (McKusick 311250), an X-linked inherited disorder, often presents in males with severe neonatal onset of hyperammonemia. Maternal gonadal mosaicism in OTC deficiency was postulated previously, but no cases have been reported. We report on a family in which two consecutive males were affected with OTC deficiency, which was proven biochemically with characteristic metabolites and absent enzyme activity in liver. OTC genotyping in both brothers showed a new mutation in exon 6 (Met206Arg: ATG-->AGG), which encodes part of the equatorial H6 alpha-helix. Biochemical investigations confirmed normal results in the mother and grandmother and the absence of OTC activity in the affected males. Genotyping of the mother and grandmother was performed on peripheral blood leukocytes and skin fibroblasts and showed no mutation in the somatic cells. The recurrence of OTC deficiency in offsprings of a woman with normal genotype strongly suggests gonadal mosaicism. Gonadal mosaicism needs to be considered when counseling couples in which the mother has had a previously affected child with OTC deficiency but apparently is not a carrier.

Abortion, Induced↗
PubMed1996

First-trimester prenatal diagnosis of Crouzon syndrome.

Crouzon syndrome, one of the best known of many craniofacial syndromes, is an autosomal dominant disorder characterized by craniosynostosis, prominent eyes, and midfacial hypoplasia due to abnormal development and premature fusion of the skull. Recently mutations in the fibroblast growth factor receptor 2 gene (FGFR2) were found to cause Crouzon. We have identified the recurrent mutation C342Y in two unrelated patients with Crouzon syndrome. One patient (A) belongs to a family in which Crouzon could be followed in three generations, while the other patient (B) represents a sporadic case. The identification of the disease-causing mutation allowed first-trimester prenatal diagnosis as requested by both patients in their subsequent pregnancies. A chorionic villus biopsy was performed in the 11th gestational week of patient A's pregnancy. DNA isolated from the biopsy revealed a fetus heterozygous for the C342Y mutation, i.e., having Crouzon syndrome. The pregnancy was terminated and the molecular diagnosis was confirmed later by analysis of fetal and placental tissue. Patient B had a missed abortion before the scheduled chorionic villus biopsy was performed. Mutation analysis of the aborted fetal tissue did not show the C342Y mutation.

Base Sequence↗
PubMed1996

PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.

A mutant form of pyruvate kinase (PK) from the red blood cells of a consanguineous family with severe non-spherocytic haemolytic anaemia has been characterized by polymerase chain reaction (PCR) amplification and sequencing. The variant enzyme was named PK Mondor, according to the recommendations of the International Committee for Standardisation in Haematology. The propositus lacked PK activity and the low level of PK activity found resulted more likely from PK-M2 (fetal isozyme) expression in the red blood cells of the propositus. PK Mondor corresponds to a frameshift mutation with deletion of one G in a repetition of four Gs in positions 1231-1234. This family, whose first child was stillborn and whose second was homozygous for the frameshift mutation, requested prenatal diagnosis during the third pregnancy. Diagnosis was made after chorionic biopsy by a specific approach combining PCR amplification and restriction enzyme digestion.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMed1996

Prenatal diagnosis of adrenoleukodystrophy by means of mutation analysis.

Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codon (Q590STOP) and deletes the Pst I site. Two patients in this family were hemizygotes for this mutation. Pst I digestion of cDNA from chorionic villi revealed that the fetus was a heterozygote for this mutation, and sex determination using the polymerase chain reaction (PCR) indicated female. Lignocerate oxidation in cultured amniocytes was slightly decreased. These findings suggest that the fetus is a female carrier of ALD, and the resultant baby was female.

Adrenoleukodystrophy↗
PubMed1996

Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family.

X-linked spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disorder which is caused by an expansion of the trinucleotide repeat (CAG)n in the first exon of the androgen receptor gene. Two cases of prenatal testing for the disease in a Greek family are reported. An affected male died in his late 50s of this disorder and his 30-year-old daughter (an obligate carrier) asked for prenatal testing for SBMA. DNA analysis revealed that she indeed carried an expanded allele of 40 repeats, as well as a normal size allele of 24 repeats. Prenatal diagnosis of SBMA was performed when, on two successive pregnancies, two male fetuses with the expanded (CAG)n allele were found.

Adult↗
PubMed1996

Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia.

Prenatal testing of 12 pregnancies at risk for argininosuccinic aciduria due to argininosuccinate lyase (ASAL) deficiency and three pregnancies at risk for citrullinaemia due to argininosuccinate synthatase (ASAS) deficiency was performed by metabolite detection in amniotic fluid and measurement of enzyme activity in uncultured and cultured chorionic tissue and in cultured amniocytes. From our data and those of previous studies, amniotic fluid argininosuccinate measurement alone is clearly a reliable and rapid diagnostic test for both severe and mild ASAL deficiency if maternal ASAL deficiency can be excluded. For prenatal diagnosis of ASAS deficiency, however, both measurement of the amniotic fluid citrulline level and enzyme assay should be employed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1996

Partial trisomy/monosomy 6q in fetal cells and CVS long-term culture not present in CVS short-term culture.

A cytogenetic discrepancy in chorionic villi with implications for prenatal diagnosis is described. Chromosome analysis revealed a normal karyotype in banded metaphases from short-term culture and a chromosome count of 46 in cells of the long-term culture. After the birth of a malformed infant, a structurally aberrant chromosome 6 was found in lymphocytes and skin fibroblasts. Re-analysis of chorionic villi confirmed the result from short-term culture but disclosed the presence of the structural aberration in cells of the long-term culture. This type of inconsistency is reported for the first time and stresses the importance of a numerical and structural analysis of both short-term and long-term culture. The application of three techniques, chromosome banding, comparative genomic hybridization (CGH), and fluorescence in situ hybridization (FISH) analysis, was essential to prove that the derivative chromosome carried a combined partial trisomy/monosomy for 6q. The findings are discussed with respect to the origin of the structural aberration and to the consequences for prenatal diagnosis on chorionic villi and genetic counselling.

Adult↗
PubMed1996

Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay.

We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-alpha-D-N-sulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is released by the successive action of endogenous sulphamidase and an added yeast enzyme preparation which hydrolyses the MU-alpha-glucosaminide intermediate. Optimal conditions for a sensitive, accurate, and convenient procedure for use in the prenatal diagnosis of Sanfilippo A syndrome are described. Previously, prenatal diagnosis of Sanfilippo A syndrome has been achieved by a radioactive sulphamidase assay in chorionic villi or in cultured amniocytes and by two-dimensional electrophoresis of glycosaminoglycans in amniotic fluid. Our experience using these methods in 35 pregnancies at risk is reported. The feasibility of the new fluorogenic assay was evaluated by retrospective testing of stored homogenates of chorionic villi and amniotic fluid cells from 22 pregnancies at risk. Unequivocal assignment of the fetal status in five affected pregnancies and 17 pregnancies with a normal outcome confirms the reliability of the new sulphamidase assay, which is in every respect more convenient than the conventional method using 35S-radiolabelled heparin.

Amniocentesis↗
PubMed1996

Analysis of nine pregnancies with confined placental mosaicism for trisomy 2.

Karyotypically normal fetuses with completely trisomic or mosaic placentae may be at increased risk for intrauterine growth restriction (IUGR). Molecular and cytogenetic analyses on nine pregnancies with confined placental mosaicism (CPM) for trisomy 2 were performed at two collaborating centres. Seven cases were identified through prenatal testing of chorionic villi (CVS). Two of these seven cases demonstrated complete trisomy 2 while the remaining five cases showed various levels of trisomy 2 (33 per cent-75 per cent cells). Two cases identified after IUGR was observed in newborn infants demonstrated 65 per cent and 100 per cent trisomy 2 in cultured villi from term placentae. In all nine cases, blood chromosome analysis (n = 4), chromosome analysis of amniotic fluid cultures (n = 4), and cultured amnion (n = 5) were normal, failing to demonstrate any trisomic cells in tissues of fetal origin. Molecular studies on the fetal or newborn tissues using dinucleotide repeat polymorphisms on chromosome 2 revealed normal biparental inheritance of chromosome 2 in all nine cases. The parental origin studies of the extra chromosome 2 in the placenta showed that three cases were maternal in origin, at least two of which were consistent with a maternal meiotic non-disjunction giving rise to the trisomy 2, while in one case a paternal origin of the extra chromosome 2 was established.

Adult↗
PubMed1996

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.

We report a liveborn infant with severe intrauterine growth retardation and renal failure, delivered following detection of non-mosaic trisomy 2 by chorionic villus biopsy in the first trimester. Detailed analysis post-delivery indicated apparent complete trisomy 2 of the chorionic tissues, with a chromosomally normal infant demonstrating maternal uniparental disomy for chromosome 2.

Adult↗
PubMed1996

Case report: uniparental disomy 16 in association with congenital heart disease.

Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988; Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, the only such infant identified at King's College Hospital. The infant had intrauterine growth retardation and minor congenital heart disease.

Adult↗
PubMed1996

Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism.

In a family with recurrent osteogenesis imperfecta (OI) caused by paternal mosaicism, prenatal diagnosis was made using restriction enzyme analysis for a mutation in COL1A2. Parental mosaicism is important to consider in genetic counselling for OI. Prenatal diagnosis of OI is available currently by means of collagen or gene analyses in the first trimester or by ultrasonography in the second trimester.

Chorionic Villi Sampling↗
PubMed1997

Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy.

Fetuses with degenerative neurological disorders or metabolic diseases rarely exhibit sonographic abnormalities. As a result, prenatal diagnosis, when available, requires invasive testing. Prenatal diagnosis of spinal muscular atrophy (SMA) can be made by testing chorionic villi or amniocytes. Indirect genotype analysis by use of single- and multi-locus polymorphic microsatellites of the region 5q11.2-q13.3 is used. We present two cases of SMA that manifested at 11 and 16 weeks' gestation by the presence of abnormal ultrasound findings. Each case also had abnormal maternal serum screening.

Chorionic Gonadotropin↗