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PubMed1989

Genetic diagnosis in the first trimester: the norm for the 1990s.

Increasing technical capabilities and patient motivation for earlier and more private prenatal genetic diagnosis have allowed us to alter the concept of first-trimester genetic diagnosis from being rare to routine in our tertiary Reproductive Genetics Center. As public awareness of available services has increased, we have seen steadily increasing numbers and proportion of patients who are referred by their physicians earlier, who schedule tests earlier, opting to have earlier testing, and accept slightly higher risks in return for earlier results and privacy. Analysis of our clinical and laboratory results and complication rates suggests that first-trimester genetic diagnosis by either chorionic villus sampling or early amniocentesis may be offered to virtually all patients who would be candidates in the midtrimester. We believe that this trend will accelerate, making first-trimester diagnosis the norm, rather than the exception, for the 1990s.

Acetylcholinesterase↗

PubMed1996

A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.

We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the fetal tissues. This case demonstrates that the mechanism of trisomy correction may result in a fetus with UPD(9).

Abortion, Induced↗

PubMed1991

First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases.

We have carried out first-trimester prenatal diagnosis of hypophosphatasia in 16 pregnancies with a 1 in 4 risk of this condition. The liver/bone/kidney isoenzyme of alkaline phosphatase was measured in chorionic villus samples using a specific monoclonal antibody and an enzymatic amplification system. Fifteen of the 16 pregnancies were correctly predicted, while one has been lost to follow up. We suggest that this assay system is likely to be superior to DNA-base methods for the first-trimester prenatal diagnosis of hypophosphatasia.

Alkaline Phosphatase↗

PubMed1994

Risk assessment of amniocentesis between 11 and 15 weeks: comparison to later amniocentesis controls.

We studied 693 consecutive early amniocenteses (prior to 15 weeks) and found a spontaneous abortion rate to 28 weeks' gestation of 1.5 per cent. A control group of women having standard amniocentesis (15-20 weeks) experienced a 0.6 per cent fetal loss in the same period. There were no other apparent differences between the two groups. Early amniocentesis results are generally available 4-6 weeks before standard amniocentesis and 1-3 weeks after chorionic villus sampling (CVS). Alpha-fetoprotein (AFP) can be accurately assayed in 11- to 15-week amniotic fluid samples but additional studies are necessary to determine the accuracy of neural tube defect (NTD) detection. Including the present study, over 5800 early amniocenteses have been reported and the results suggest that this is a relatively safe prenatal diagnostic test and an alternative to CVS and later amniocentesis.

Abortion, Spontaneous↗

PubMed1988

Transabdominal chorionic villus sampling.

The first 100 patients undergoing first trimester transabdominal chorionic villus sampling (placental biopsy) in our hospital are reviewed. At the time of follow up 24 patients had delivered, 68 pregnancies were at 24 weeks or more and progressing normally, 7 pregnancies were terminated and there was only 1 spontaneous miscarriage. The advantages of the transabdominal approach are discussed.

Chorionic Villi Sampling↗

PubMed1991

Trisomy 9 confined to the placenta: prenatal diagnosis and neonatal follow-up.

Chorionic villus sampling (CVS), performed on a woman in the 23rd menstrual week because of bilateral fetal hydronephrosis and suspected intrauterine growth retardation (IUGR), documented trisomy 9 in all cells examined. Chromosomes of amniocytes and fetal blood lymphocytes were normal. The ongoing pregnancy was monitored closely, and at 37 weeks, a phenotypic normal male infant was delivered. Multiple placental biopsies showed 47,XY,+9, while a repeat chromosome analysis of the infant and biopsies from the amniotic membrane were normal (46,XY). This case further emphasizes the association between placental aneuploidy and IUGR. To our knowledge, nonmosaic trisomy 9 in CVS confined to the chorionic villi and later confirmed in the placenta has not been reported previously.

Amnion↗

PubMed2000

Characteristics of L-ornithine: 2-oxoacid aminotransferase and potential prenatal diagnosis of gyrate atrophy of the choroid and retina by first trimester chorionic villus sampling.

A deficiency of the mitochondrial matrix enzyme L-ornithine: 2-oxoacid aminotransferase causes gyrate atrophy of the choroid and retina with hyperornithinemia (MIM 258870), a blinding degenerative disease, which is inherited as an autosomal recessive trait. We have developed a sensitive microradioisotopic method for enzyme assay by using 2-oxo-[5-14C] glutarate as the substrate and performing the separation of the product, [5-14C] glutamate from the substrate on a cation-exchange column. The enzyme activity was determined in human and rat tissues and in cultured cells. The enzyme activity in fibroblasts from a patient was deficient and that of the parents ranged between 25 and 60% of the control values. In addition we have found the enzyme expressed in native and cultured chorionic villi indicating a potential detection of the disease during the first trimester of pregnancy.

Animals↗

PubMed2000

Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy.

The mutation specific for myotonic dystrophy (DM) is an unstable expanded CTG repeat located in the 3'-untranslated region of the myotonin protein kinase gene. Expansion of the CTG repeat shows a positive correlation with the severity of the disease and increases in successive generations of DM patients. Children with the congenital form of DM show the most severe phenotype and have large expansions, usually > 1000 repeats. For pregnant women with DM, prenatal diagnosis of DM may be offered. To reduce the time between chorionic villus sampling or amniocentesis and final results of DNA analysis in these cases, a fast and efficient method has been developed. This method combines direct PCR analyses for normal alleles with a nested PCR system followed by non-radioactive hybridization with a single-stranded probe.

Adult↗

PubMedDate not supplied

Ultrastructure of the human placenta in metabolic storage disease.

Eleven placentae and one fibroblast cell culture from pregnancies complicated by various inherited metabolic disorders, together with five chorionic villus biopsies from pregnancies at risk, were examined for ultrastructural evidence of accumulation of metabolites. Abnormal ultrastructural features were present as early as 10 weeks gestation. Myelin bodies were found in all placental cell types in a case of Niemann-Pick disorder and stromal cells showed marked vacuolation in Hurler's disease. Membranous arrays were occasionally identified in the lysosomes of stromal cells in a case of Sandhoff's disease, together with some myelin body formation in the trophoblast and endothelium. In Pompe's disease, intralysosomal accumulations of glycogen were present in all cell types except syncytiotrophoblast, while in sialic acid storage disorder all placental cells were affected except for the cytotrophoblast. Collagen fibre disorientation and excess associated proteoglycan was seen in a formalin-fixed placenta with Sanfilippo mucopolysaccharidosis, and syncytial vacuolation, caused possibly by delays in fixation, was evident in many specimens. The specimens were collected from different centres and the fixation procedure varied significantly. The most satisfactory results were obtained from chorionic villus sampling in vivo and from pregnancies terminated using aspiration followed by immediate fixation. The importance of liaison with clinicians is stressed in order to obtain optimal preservation of the tissue. This is particularly vital in immature specimens of placenta where abnormal storage product material may not have had time to accumulate.

Amniocentesis↗

PubMed1995

A misdiagnosis of X-linked adrenoleukodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids.

A case is reported of a male fetus at risk of X-linked adrenoleucodystrophy who showed a normal cultured chorionic villus cell very long chain fatty acid (VLCFA) profile but at birth exhibited grossly abnormal plasma and cultured fibroblast VLCFAs. Maternal contamination or a sample mix-up was excluded by chromosome analysis and analysis of polymorphic markers. This is the second report of a fetus affected with this disorder who showed normal cultured chorionic villus cell VLCFAs. It highlights the importance of a proper audit of all prenatal diagnoses to evaluate method reliability.

Adrenoleukodystrophy↗

PubMed1991

Expression of fragile-X in a female fetus diagnosed after chorionic villus sampling.

Study of different tissues of an aborted female fetus showed similar levels of fragile-X expression (6.3-9.2 per cent) and of early replication of the FRAXA-positive cells (50-66 per cent) in fetal tissues. Different culture media did not significantly affect either investigation. It is suggested that the distribution of X-inactivation in FRAXA-positive chorionic villus cells of a female fetus might indicate her future phenotype.

Cells, Cultured↗

PubMed1999

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations.

Prenatal diagnosis for non-ketotic hyperglycinaemia (NKH) was performed by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in two families. In 26 families, enzymatic analysis of the glycine cleavage multi-enzyme system (GCS) yielded an unambiguous diagnosis; inconclusive results in two families were due to borderline GCS activity. We analysed a second chorionic sample in these two families. In one case, GCS activity was normal in the second specimen, and the baby did not have NKH. In the other case, we again found extremely low GCS activity in the second specimen, but a healthy baby was born. The cause of this false-positive result is unknown. Molecular analysis of NKH has identified two prevalent mutations to date; the S564I mutation in a gene encoding the P-protein, a component of the GCS, in a Finnish population, and the H42R mutation in a gene encoding the T-protein in the Israeli-Arab population. These prevalent mutations allow us to obtain unambiguous prenatal diagnoses in both Finnish and Israeli-Arab families. GCS activity in samples from a Finnish family demonstrated a good agreement with DNA analysis, but the fetus of the Israeli-Arab family had an upper limit activity of the affected range, suggesting an advantages for DNA analysis.

Amino Acid Oxidoreductases↗

PubMed1995

Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.

Routine ultrasound examination at 11 weeks of gestation in a woman with no family history of genetic disease demonstrated increased accumulation of fluid in the fetal nuchal region. In view of the association of this defect with chromosomal abnormalities, fetal karyotyping was performed by chorion villus sampling and this demonstrated a normal 46,XY karyotype. Subsequent scans showed resolution of the nuchal fluid, and at the 20-week scan the fetal genitalia appeared to be female. Fetal blood sampling confirmed a normal male karyotype and fetoscopy confirmed the presence of female external genitalia. The parents elected to terminate the pregnancy, and postmortem findings were indicative of Smith-Lemli-Opitz syndrome. This was confirmed by the finding of increased levels of 7-dehydrocholesterol in cultured skin fibroblasts.

Adult↗

PubMed1995

46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue.

Chorionic villus sampling (CVS) was performed on a 40-year-old woman at 9 1/2 menstrual weeks because of advanced maternal age. The direct preparation showed 46,XY,dup(10)(q11.2q23.2). CVS long-term culture and fetal tissue revealed a rare additional abnormality: 48,XXXY,dup(10)(q11.2q23.2). This abnormality represented the major cell line (> 85 per cent in 691 cells) in an (XY)/XXY/XXXY/(XXXXY) mosaic (all cell lines presumably bearing the dup(10q); the presence of XY and XXXXY cell lines is uncertain). To our knowledge, this is the first report of trisomy 10q11-q23 and of prenatally detected 48,XXXY in chorionic villi. The mosaic could have resulted from early post-zygotic non-disjunctions in a 46,XY,dup(10q) or 47,XXY,dup(10q) zygote. The results from DNA studies of four polymorphisms, mapped to Xp and Xq, support this theory. The literature on prenatally detected cases with sex chromosome tetrasomy and pentasomy and those with additional autosomal abnormalities is reviewed. The reported case underlines the problem of false-negative findings when only direct CVS preparations are karyotyped.

Adult↗

PubMed2003

Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency.

Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency are autosomal recessive inborn errors of metabolism with severe neurological symptoms resulting from a lack of sulfite oxidase activity. The deficiencies can be diagnosed prenatally by monitoring sulfite oxidase activity in chorionic villus sampling (CVS) tissue. In those families in which the specific defects have been identified, diagnosis can be achieved by mutation analysis or linkage studies directed at affected genes. These include MOCS1, MOCS2 or GEPH, in cases of molybdenum cofactor deficiency, or SUOX in patients with isolated sulfite oxidase deficiency.

Adult↗

PubMed2003

Prenatal diagnosis for detection of aneuploidy: the options.

The value of all noninvasive prenatal tests must be viewed with the perspective of the consequences of invasive testing. Regarding second trimester noninvasive testing, biochemical screening is more accurate in establishing risk than maternal age alone. One or more major ultrasound abnormalities, nuchal thickening, or a shortened humerus should raise concern for Down syndrome regardless of the patient's a priori risk based on age or biochemical markers. Isolated minor ultrasound markers should not be used in calculating risk in low-risk patients regarding Down syndrome unless the biochemical profile already places the patient at risk or in a borderline risk zone. If the ultrasound finding is hyperechoic bowel, problems other than aneuploidy may be the cause, including cystic fibrosis, infection, or hemorrhage, and these problems must be considered if hyperechoic bowel is an isolated finding. Improved risk adjustment seems to be applicable to a priori high-risk patients with completely normal sonograms. Genetic sonograms with specific risk adjustment schemata may be used to adjust a priori risk (either maternal age or biochemical screening results) at centers in which this has proven to be accurate, but whether this is statistically sound remains to be determined. The goal of second trimester ultrasound screening is to identify at-risk fetuses better and offer invasive testing to a more select group of patients. As the value of first trimester screening becomes more evident and practical, and if the risk of chorionic villus sampling becomes an acceptable norm, the patient population that reaches the second trimester of pregnancy will be select. Therefore, we can anticipate that second trimester screening and invasive testing may be needed only in a minority of cases, and the practice standards of prenatal testing and sonography (including minor ultrasound markers) will change entirely.

Amniocentesis↗

PubMed1988

Transabdominal versus transcervical chorionic villus sampling: a randomized trial.

Chorionic villus sampling (CVS) is still considered to be an applied research method and its safety is under evaluation in randomized trials. Moreover, no knowledge is available about the comparative efficiency and risks of transcervical and transabdominal chorionic villus sampling. A preliminary analysis of the first 639 consecutive cases of an ongoing trial in which cases are randomized between transcervical and transabdominal aspiration techniques shows: (a) an overall sampling success rate of greater than 99% obtained by both techniques; however, the number of repeat insertions of the sampling device was higher for the transcervical route; (b) a significant shift towards lighter tissue samples for the transabdominal route; however, very light specimens, less than 10 mg, were equally distributed in both groups; and (c) approximately 10% of cases underwent a different procedure from the allocated one because of an anatomical or clinical contraindication, with a higher rate of deviation for the transcervical technique.

Abdomen↗

PubMed1989

[A method of shaking-blotting--a simple and reliable means for obtaining direct chromosomal preparations from chorionic biopsies].

The method proposed is based on a gradual fixation, and short-term hydration before softening and on a new technique of chromosome preparation. The latter is based on the sample softening in 60% acetic acid directly on the slide, its gentle shaking and spot-blotting, a careful spreading of the cell suspension on slide surface avoiding the usage of micropipets and other handlings causing metaphase plate breakage. The method provides a highly efficient karyotyping of human embryos within the 7-12th weeks of gestation.

Chorion↗