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PubMedDate not supplied

Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.

OBJECTIVE: To analyse the discrepancy between the karyotype in direct preparations of chorionic villus sampling (CVS) and the fetal karyotype and its possible fetal phenotypic repercussion. METHODS: The karyotype was obtained from direct and cultured preparations of CVS. FISH was performed in direct CVS preparations and in four different areas of term placenta. RESULTS: Karyotype and FISH analysis in CVS revealed a 46,XX/47,XX,+i(11q) cell line. Cultured CVS preparations showed a 46,XX karyotype. Cytogenetic studies in term placenta did not reveal the abnormal cell line. Molecular studies did not detect uniparental disomy for chromosome 11 in the fetus. CONCLUSION: The fetus, at birth, had no phenotypic abnormalities. IUGR was not present during gestation, in accordance with the low proportion of aneuploid cells in term placenta, and UPD for chromosome 11 was not observed.

Adult↗

PubMed2007

Detection of fetomaternal hemorrhage following chorionic villus sampling by Kleihauer Betke test and rise in maternal serum alpha feto protein.

OBJECTIVES: To assess incidence and volume of fetomaternal hemorrhage (FMH) after chorionic villus sampling (CVS) by Kleihauer Betke test (KBT) and rise in maternal protein (MSAFP). METHODS: A prospective study was conducted on 61 cases requiring CVS. FMH due to CVS was assessed by KBT and MSAFP. RESULTS: Out of 61 cases, 60 (98.36%) cases showed FMH by MSAFP while all showed FMH by KBT. Median volume of FMH detected by MSAFP was 0.06 mL (25 to 75th interquartile (IQR) 0.01 to 0.12 mL) and by KBT was 0.45 mL (25 to 75th IQR 0.09 to 0.90). Mean volume of FMH detected by MSAFP was 0.1 + 0.1424 mL and by KBT was 0.58 + 0.637 mL. Significant FMH up to 0.1 mL was found in 20 (32.8%) and 45 (60.6%) by MSAFP and KBT respectively. CONCLUSION: MSAFP and KBT are sensitive to detect FMH. KBT estimates more FMH than MSAFP. Fifty micrograms of anti-D is sufficient to cover FMH during CVS.

Adult↗

PubMed2004

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.

OBJECTIVES: Ullrich congenital muscular dystrophy (UCMD) is a recessively inherited condition characterised by proximal joint contractures, marked distal joint hyperextensibility, rigidity of the spine and early respiratory failure. Recently, mutations in the genes encoding the subunits of collagen VI have been identified in this disease. We undertook two prenatal diagnoses for UCMD in a consanguineous family where the disease was consistent with linkage to the COL6A3 locus and immunolabelling of collagen VI in the proband's skeletal muscle was severely reduced. METHODS: Both haplotype analysis and collagen VI immunolabelling were used to determine the status of the fetuses. RESULTS: Haplotype analysis of DNA extracted from chorionic villus samples (CVS) from the initial at-risk pregnancy with markers encompassing COL6A3 demonstrated that this fetus had inherited the same haplotypes as the affected child, and immunolabelling of the at-risk CVS demonstrated the virtual absence of collagen VI. A second latter fetus inherited neither of the at-risk haplotypes and collagen VI expression in the CVS was normal. During the second pregnancy, a homozygous G > A change in the last nucleotide of exon 27 of COL6A3 was identified in the proband, substantiating the results obtained from haplotype analysis and collagen VI immunolabelling. CONCLUSION: These findings demonstrate that haplotype analysis in combination with immunocytochemistry is a rapid and reliable method for prenatal diagnosis of UCMD, provided the family is genetically informative and reduced collagen VI expression in the proband has been demonstrated.

Chorionic Villi Sampling↗

PubMed1995

Prenatal diagnosis by analysis of fetal cells in maternal blood.

The data accumulated thus far indicate that fetal NRBCs are the target cell type of choice in maternal blood for most investigators, although some groups continue to work with the trophoblast. Reports of persistent circulation of hematopoietic stem cells, lymphoid/myeloid progenitors, and lymphocytes mandate that removal of these cell types must occur before clinical diagnosis of the current pregnancy can be made. In selected cases, accurate detection of fetal aneuploidy has been made from fetal cells in maternal blood; the clinical evaluation sponsored by the National Institute of Child Health and Human Development will determine the sensitivity and specificity of cytogenetic diagnosis in a larger group of pregnant women, but this information will not be available for several years. At present, detection of uniquely fetal, paternally inherited gene polymorphisms or mutations such as the Rh(D) antigen is possible only because the mother lacks these genes; hence, maternal cell contamination does not hinder diagnosis. Currently the presence of large numbers of maternal cells in enriched samples precludes single-gene diagnosis for conditions in which the mother carries a mutant gene, because her cells are preferentially amplified and difficult to distinguish from those of the fetus. It is likely, however, that as techniques of individual fetal cell isolation are perfected, maternal cell contamination will no longer be an issue, and the entire fetal genome will become available for diagnosis and therapy. Pediatricians need to be aware of the progress of research in this field, because fetal cell isolation from maternal blood not only could change prenatal diagnosis but would change the amount of genetic information that arrives with a newborn infant at birth. The ultimate goal of this work is to diagnose noninvasively, in the first trimester, the common fetal aneuploidies and single-gene disorders, to permit in utero treatment, or to allow low-risk pregnant women carrying an abnormal fetus an opportunity for reproductive choice.

Antibodies, Monoclonal↗

PubMed2004

Fetal reduction from twins to a singleton: a reasonable consideration?

OBJECTIVE: In the past, our group took the position that we would not provide multifetal pregnancy reduction to a singleton regardless of starting number except for serious maternal medical indications or as a selective termination for diagnosed fetal anomalies. With evidence of increased safety and more women (many aged 40 years or more) asking for counseling about reduction to a singleton, we reviewed our prior reasoning. METHODS: We compared outcomes of 52 first-trimester twin-to-singleton for multifetal pregnancy reduction cases performed by a single operator to twin and singleton data from recent national register studies. RESULTS: Twin-to-singleton reductions represent less than 3% of all cases. Forty of 52 patients were aged 35 years or more, 19 were aged more than 40 years, and 2 were aged more than 50 years (age range 32-54 years). Since 1999, 23 of 28 had chorionic villus sampling before multifetal pregnancy reduction. Fifty-one of 52 reached viability with mean gestational age at delivery of 37.2 weeks. One of 52 patients miscarried (1.9%). Compared with multiple sources of data for twins, the loss rate is lower in twins reduced to a singleton. CONCLUSION: Until recently, multifetal pregnancy reductions to a singleton were rare. Physicians were concerned about the unknown risks of multifetal pregnancy reduction in this situation. They also had moral doubts about the justification to go "below twins." However, physicians know that spontaneous twin pregnancy losses average 8-10%. Also, with experience, multifetal pregnancy reduction has become very safe in our hands. Our data suggest that the likelihood of taking home a baby is higher after reduction than remaining with twins. We propose that twin-to-singleton reductions might be considered with appropriate constraints and safeguards.

Abortion, Spontaneous↗

PubMed1999

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).

The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural cells harbour lysosomal inclusions showing accumulation of material with histochemical characteristics of ceroid and lipofuscin. A Finnish woman with a daughter with vLINCL came for genetic counselling for her current pregnancy. Electron microscopy of a chorionic villus sample (CVS) at the 11th week of gestation did not reveal inclusions characteristic for NCL. DNA analysis showed that the fetus had inherited the major mutation, a 2 bp deletion of the CLN5 gene from the mother, and the same paternal (and maternal) haplotypes for COLAC1 and AC224 as the affected daughter. The pregnancy was terminated. Electron microscopy of the CVS of the aborted fetus at the 14th week of pregnancy showed lysosomal electron dense inclusions with straight and curved lamellar profiles consistent with vLINCL. Prenatal diagnosis of NCL-disorders (CLN1, CLN2, CLN3) can be made from CVS by demonstrating the mutations of the affected genes or by haplotype analysis using the closely linked markers in most cases. In various clinical settings the DNA diagnostics may not be possible. Demonstration of the characteristic inclusions of the placenta and fetal tissues remains a helpful adjunct in such cases.

Child↗

PubMed1994

Chorionic villus sampling utilization following reports of a possible association with fetal limb defects.

Prenatal diagnosis choices were reviewed in 473 women who presented for genetic counselling prior to 11 weeks' gestation for the indication of advanced maternal age. Group A consisted of 336 patients who were unaware of a possible association between chorionic villus sampling (CVS) and limb defects. Group B consisted of 137 patients who were provided this information. Fifty-one per cent of patients in group A and 45 per cent of patients in group B chose CVS. This difference was not significant by chi 2 analysis (P = 0.7). Patterns of prenatal diagnosis procedure utilization from 1987 to 1992 revealed a significant reduction in CVS utilization accompanied by a corresponding increase in amniocentesis after the association between CVS and limb defects was publicized. Referrals for CVS counselling also significantly declined. However, acceptance rates did not change for those patients who received genetic counselling. First-trimester genetic counselling, including a discussion regarding a possible association between CVS and limb defects, helps patients make informed decisions concerning prenatal diagnosis options, and, in our population, resulted in no change in CVS acceptance rates.

Adult↗

PubMed2004

Sonographic biometrical range of external genitalia differentiation in the first trimester of pregnancy: analysis of 2593 cases.

OBJECTIVES: The aim of this study was to establish the accuracy of fetal gender assignment by sonography in the biometrical range of 18 to 29 mm of biparietal diameter (BPD). METHODS: Transvaginal and/or transabdominal sonography was used to detect the sagittal sign as a marker of fetal gender in 2593 fetuses with BPD between 18 and 29 mm. The results of sonographic examination were compared with the gender at birth or with karyotype obtained from amniotic fluid cells or chorionic villus sampling. RESULTS: Fetal gender assignment was feasible in 2374 of 2593 cases (91%). Of the 2188 fetuses with known fetal sex outcome, 1025 were males and 1157 were females, and 6 had genital anomalies. In fetuses without genital anomalies, an accuracy rate of 100% was achieved at a BPD of >/=24 mm. The results of the six cases with genital malformations were considered separately. CONCLUSION: Sonography is a reliable method for the study of the morphological development of the external genitalia in fetuses 'in vivo'; it is possible to assign fetal gender in 95 to 99% starting at a BPD of 20 mm and to achieve an accuracy rate of 99 to 100% from a BPD of 22 mm, but fetal sex assignment should not be undertaken below a BPD of 22 mm, and especially not in cases where fetal sexing affects pregnancy management.

Amniotic Fluid↗

PubMed1995

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Fragile X syndrome is the most common form of inherited mental retardation, due to an expansion of the (CGG)n trinucleotide repeat in the FMR-1 gene and hypermethylation of its 5' upstream CpG island. Two major problems remain to be resolved for fragile X prenatal diagnosis: the abnormal methylation patterns of chorionic villus samples (CVS) and the inability to predict the mental status of females with the full mutation. We present here the results of ten prenatal diagnoses of fragile X syndrome using Southern blotting and polymerase chain reaction (PCR) amplification, and the analysis of 50 further CVS to test the methylation status of the CpG island of the FMR-1 gene. In the ten 'at-risk' CVS, eight normal (five males and three females) and two affected male fetuses were detected. Absence of methylation in the CVS was observed in two cases, which was not found upon subsequent examination of the newborn or of fetal tissues. In the 50 CVS not 'at risk' for fragile X syndrome, abnormal fragment patterns for probe StB12.3 were detected in 32 per cent for female and 24 per cent for male fetuses. This abnormal pattern could be due to absent or partial methylation of the CpG island of the FMR-1 gene in chorionic villus tissues.

Blotting, Southern↗

PubMed1997

Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992.

Of 62,865 karyotyped chorionic villus (CV) samples that were reported to EUCROMIC 1986-1992, 98.5 per cent showed either a normal karyotype (true negative result; 94.8 per cent of the total) or a non-mosaic chromosomal aberration (true positive non-mosaic result; 3.7 per cent). True fetal mosaicism was diagnosed in about 0.15 per cent of the 62,865 CV samples, while confined placental mosaicism (CPM) occurred in 1.0 per cent. False-positive non-mosaic aberrations were observed in 0.15 per cent and false-negative CVS (chorionic villus sampling) results in only 0.03 per cent. The remaining 0.15 per cent of the CVS results were unclassifiable. These figures determined a sensitivity of CVS for prenatal detection of chromosome aberrations of 98.9-99.6 per cent (95 per cent confidence intervals), a specificity of 98.5-98.8 per cent, a positive predictive value of 72.6-78.3 per cent, and a negative predictive value of 99.95-99.98 per cent. False-positive non-mosaic aberrations that could not from the outset be suspected of being confined to the placenta were very rare (0.07 per cent of CV samples). They most often involved non-mosaic monosomy X and trisomy 18 encountered after direct preparation alone. False-negative CVS results were extremely rare (0.03 per cent) and occurred, with only one exception, after direct preparation alone. Thirteen of the 19 false-negative CVS diagnoses were from pregnancies at a particularly high risk for fetal chromosomal aberration. Seventy-five per cent of the pregnancies with CVS mosaicism or non-mosaic discrepancy and known outcome continued to livebirth. When CVS mosaicism was encountered, the definitive prenatal cytogenetic diagnosis was most often obtained through subsequent amniocentesis. However, the use of amniocentesis and the frequency of pregnancy termination depended on the type of chromosomal aberration involved. We conclude that CVS is an accurate method for prenatal chromosome analysis. In pregnancies at high risk for fetal chromosomal abnormality, we recommend, however, not relying solely on a normal karyotype obtained after direct preparation alone.

Abortion, Induced↗

PubMedDate not supplied

Improved specificity of NRBC detection in chorionic villus sample supernatant fluids using anti-zeta and anti-epsilon monoclonal antibodies.

OBJECTIVE: Fetal erythrocytes leak from fetal capillaries at the time of chorionic villus sampling (CVS). It has been reported that in approximately 60% of CVS cases fetal nucleated red blood cells (NRBC) can be isolated from the supernatant fluid by immunophenotyping with monoclonal antibody (Ab) against the gamma-chain of fetal hemoglobin and used as an additional source for confirmation of the fetal karyotype. However, the increased prevalence of beta-thalassemia mutations in countries such as Greece results in many pregnant women who produce gamma-positive cells. This makes it difficult to distinguish between the fetal and maternal origin of the NRBC. Use of Abs against embryonic hemoglobin chains zeta and epsilon may increase specificity for fetal NRBC detection. METHODS: Mouse monoclonal Abs against Hb-zeta and Hb-epsilon were used in order to examine if specificity for fetal NRBC detection in CVS supernatant fluids could be improved. 41 samples were studied using anti-zeta and 20 using anti-epsilon monoclonal Abs. RESULTS: Anti-zeta or anti-epsilon positive erythrocytes were, respectively, identified in 52 of 61 CVS samples and anti-zeta or anti-epsilon positive NRBC were present in all cases. The mean number of Hb-positive erythrocytes identified with the anti-zeta Ab was 58 and the mean number of NRBC 29. The mean number of anti-epsilon positive erythrocytes was 30 and of NRBC 23. FISH with X and Y chromosome specific probes was performed in 26 cases and the results were concordant with the CVS karyotype. Statistical analysis using the correlation test showed that anti-zeta and anti-epsilon were more specific for the detection of embryonic NRBCs. CONCLUSIONS: Since embryonic monoclonal Abs show increased specificity, they should be preferentially used for NRBC detection in CVS supernatant fluids. Furthermore, the increased specificity of anti-zeta and anti-epsilon Abs may considerably improve prenatal diagnosis from fetal cells isolated from maternal circulation.

Animals↗

PubMed1990

Patients' attitudes following chorionic villus sampling.

The attitudes of 190 patients who had undergone chorionic villus sampling (CVS) were assessed by means of a questionnaire. One hundred and fifty-two patients replied of whom 68 (45 per cent) were referred because of increased maternal age and in the other 84 cases the indications included previous chromosomal abnormalities, fetal sexing, DNA analysis, and biochemical analysis. One hundred and twenty-two patients had a transcervical procedure, 24 had a transabdominal, and six patients required both procedures. One hundred and forty-one patients (93 per cent) reported CVS to be a satisfactory procedure, and the same percentage thought earlier diagnosis was beneficial. Thirty-nine patients (81 per cent) reported a better experience with CVS than with a previous amniocentesis. A majority of patients (93 per cent) wished a CVS in a future pregnancy and 137 patients (97 per cent) would accept a risk of miscarriage from the procedure of twice that quoted for amniocentesis (1 per cent).

Attitude↗

PubMed1994

A quantitative estimation of the effect of prenatal diagnosis in dizygotic twin pregnancies in women of advanced maternal age.

Genetic counselling in a dizygotic twin pregnancy is complicated by the large number of possible pregnancy outcomes and by the conceivable differences in the parental valuation of these outcomes. We present the probability distributions of the pregnancy outcomes in dizygotic twin pregnancies for women from 35 to 45 years old without prenatal diagnosis and with transabdominal chorionic villus sampling (TA-CVS) or amniocentesis (AC), using data from the literature. TA-CVS always gives a higher probability of a favourable pregnancy outcome (the birth of one or two infants with a normal karyotype) than AC. For a 35-year-old woman, a 0.7 per cent risk of an unfavourable pregnancy outcome without prenatal diagnosis has to be weighed against the 2.1 per cent excess risk of loss of the entire pregnancy after TA-CVS. For a 45-year-old woman, a 10.2 per cent risk of an unfavourable pregnancy outcome without TA-CVS has to be balanced against a 4.4 per cent excess risk of pregnancy loss after TA-CVS. This study provides a quantitative tool for the support of individual parents with respect to the decision to undergo prenatal diagnosis in a dizygotic twin pregnancy.

Abortion, Induced↗

PubMed2002

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.

OBJECTIVE: A study was conducted to explain the mechanism of an unusual discrepancy between short- and long-term culture examination methods of chorionic villus sampling (CVS). METHOD: In a 29-year-old Caucasian woman, transabdominal CVS was carried out at 12 weeks of gestation. Non-mosaic karyotype 46,XX,i(21q) was found on long-term CVS culture but number and morphology of chromosomes were normal on short-term culture, amniocyte culture, hygroma colli fluid and fetal fibroblast. RESULTS: Chromosomal aberration probably appeared after the trophoblast cell line differentiation, four days after fertilization, by means of a 21 centromere misdivision and formation of a i(21q) with secondary positive selection of the 46,XX,i(21q) cell line and loss of the 46,XX in the fetus. CONCLUSION: The restricted number of cases with this type of discrepancy limits the possibility of drawing generalised conclusions. In case of discrepancy, we recommend confirmation by amniocentesis or by fetal blood combined with sonographic examination to provide a more definitive diagnosis.

Adult↗

PubMed1989

Prenatal exclusion testing for Huntington's disease: a problem of too much information.

At eight weeks of pregnancy a couple were informed that the prospective father's mother had died of Huntington's disease (HD). There were no living affected members in the immediate family to confirm the diagnosis. By inspection of the local genetic register, it was established that it was indeed HD segregating in the extended family. Genotyping of the prospective mother and father, the father's unaffected father, and his unaffected maternal grandmother was carried out using a battery of polymorphic DNA markers, including a new probe which has a very low recombination rate with the HD locus. Analysis of DNA from a chorionic villus sample taken at 10 weeks of pregnancy showed that the fetus must have inherited a chromosome from its father's affected mother. Its risk of developing HD was 47%. If the genotype of the unaffected maternal grandmother was taken into account, the risk was reduced to 42%. Neither risk was considered acceptable by the prospective parents and the pregnancy was terminated at 12 weeks' gestation. Prospects for future pregnancies are good, with a 50% chance of having a child whose risk of inheriting the HD gene is less than 1.5%. In retrospect it was noted that although genotyping of the maternal grandmother had refined the fetal risk, it had also nearly contributed to an inadvertent and unwanted predictive test for HD on the father. This case makes the point that in prenatal exclusion testing, linkage information must be generated with considerable care.

Adult↗

PubMed1992

[Results of prenatal cytogenetic screening at the Prenatal Genetic Center of the Postgraduate Medical University between 1980-1990].

Evaluation of prenatal cytogenetic diagnosis by Genetic Center of Postgraduate Medical University in 1980 and 1990. Between 1980 and 1990, 1039 amniocenteses (AC), 1263 chorionic villus samples (CVS), and 30 fetal blood sampling were performed for cytogenetic reasons. The rate of chromosome abnormalities were 5.5 per cent in the first trimester CVS, 5.2 per cent in the second trimester CVS, and 3.1 per cent in AC. The Down syndrome was the most frequent abnormality (46 fetuses) and the next was the Edwards syndrome (15 cases). It was established that though the case number is fourteen times more than the beginning of this decade, this was enough only for screening women 39 or over. During this period several new methods were introduced making possible the diagnosis from 9th week of pregnancy until term. Among these methods the CVS has not only become an alternative to the AC but now it is the most frequent procedure in our laboratory. Though most pregnants are still referred for prenatal cytogenetic investigation because of their advanced age, the authors search for other risk factors which would make possible screening in younger women, too.

Amniocentesis↗

PubMed2004

Reevaluating confined placental mosaicism.

Chromosomal mosaicism was found in 38 of 4,000 chorionic villus samples examined from 1998 to 2003. A small fraction of these (5/38) were confirmed as true mosaics by analysis of amniotic fluid. Twenty-nine cases that fit the definition of confined placental mosaicism were followed with clinical and cytogenetic analysis throughout the pregnancy, at birth and in a few cases into infancy. This was done to determine the prognostic interpretation of prenatal cytogenetic results from multiple specimens in a single pregnancy and thus allow for reevaluation of the genetic counseling. In 2 of these 29 cases, low-level mosaicism was found in the neonate, and in 1 of these the chromosome abnormality is probably the cause of the resulting minor phenotypic abnormalities. Families face unique difficulties when confined placental mosaicism is the prenatal diagnosis, and it is extremely important that the counseling they receive takes into consideration the unlikely possibility of the placental abnormality appearing in fetal tissues.

Chorionic Villi Sampling↗

PubMed2005

Four-dimensional ultrasound guidance of prenatal invasive procedures.

OBJECTIVE: Technological advances in ultrasonography have revolutionized prenatal diagnosis and treatment. Here we evaluate the effectiveness of using four-dimensional (4D) ultrasonography to guide prenatal invasive procedures. PATIENTS AND METHODS: Prenatal invasive procedures using 4D ultrasound were recorded prospectively in 93 cases: 10 amnioinfusions, 50 amniocenteses, 8 chorionic villus samplings (CVS) and 25 cordocenteses. The needle target site was first identified using the two-dimensional (2D) mode, and was then confirmed using the three-dimensional (3D) mode. The needle was inserted under 4D ultrasound guidance. After selecting the needle target site, the true position of the needle was determined in three planes ('real-time 3D targeting'). RESULTS: Using 4D ultrasound guidance, most procedures were performed within 5 min and with a 100% success rate, even in cases involving severe oligohydramnios (amniocentesis), thin placentas (CVS) or narrow umbilical veins (cordocentesis). Moreover, there were no serious complications during or after any procedure. CONCLUSIONS: 4D ultrasonography can be used to guide various prenatal invasive procedures offering clear information in all three planes. It is likely that such imaging will reduce the time taken to complete the procedures and reduce the risks associated with them. Published by John Wiley & Sons, Ltd.

Adult↗