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PubMed1996

Maternal serum screening and trisomy 16 confined to the placenta.

Five cases of trisomy 16 confined to the placenta have been detected by invasive procedures (amniocentesis and chorionic villus sampling) after high-risk results for Down syndrome and neural tube defects in a maternal serum screening programme of 6614 consecutive cases. All five pregnancies displayed unusually elevated levels of human chorionic gonadotropin and four out of five also had raised alpha-fetoprotein values. No structural malformation was present but all five pregnancies were complicated by fetal growth retardation, and one by intrauterine death. From our results, we suggest that both amniocentesis and chorionic villus sampling should be considered in the management of cases with high mid-trimester levels of these analytes.

Adult↗
PubMed1992

Prenatal detection of multiple copies of a familial supernumerary marker chromosome.

Direct preparations and long-term cultures from a chorion villus biopsy, taken because of a known maternal additional marker chromosome, showed a 48,XX,+mar,+mar karyotype in all cells examined. The same karyotype was revealed in a subsequent amniotic fluid sample and in cord blood at delivery. Detailed examination of the child at delivery and at 1 year of age showed no evidence of phenotypic abnormality or developmental problems.

Adult↗
PubMed2004

Is nuchal translucency screening associated with different rates of invasive testing in an older obstetric population?

OBJECTIVE: Our objective was to assess the impact of nuchal translucency screening for aneuploidy on chorionic villus sampling and amniocentesis rates in an older obstetric population. METHODS: Our study population included women >/=35 years old who were delivered at our hospital from January 1, 2000 through December 31, 2002. Records were reviewed to determine whether women underwent nuchal translucency, chorionic villus sampling, and amniocentesis. The chi-squared test for trend was used to evaluate changes in nuchal translucency, chorionic villus sampling, and amniocentesis rates over six 6-month intervals. Maternal characteristics were compared with the use of Mann-Whitney U test and Fisher's exact test. RESULTS: The 4029 women who met the inclusion criteria had a median age at delivery of 37 years (interquartile range, 36-39 years). The rates of nuchal translucency screening increased from 0% to 41.6% over the study interval. Women who underwent nuchal translucency screening when it was available were older than the women who did not (median age, 37 years [interquartile range, 36-40 years] vs median age, 37 years [interquartile range, 36-39 years]; P=.003). A higher proportion of women who were >/=40 years old underwent nuchal translucency screening when it was available than did women who were 35 to 39 years old (24.9% vs 20.4%; P=.01). Women who underwent nuchal translucency screening were less likely to have chorionic villus sampling compared with women who did not undergo screening (1.9% vs 7.1%; P<.001). Rates of chorionic villus sampling declined over time, although amniocentesis rates remained unchanged. The overall rate of invasive testing declined. Different trends were noted in women who were 35 to 39 years old compared with women who were >/=40 years old. CONCLUSION: Higher rates of nuchal translucency screening were associated with lower rates of chorionic villus sampling and invasive testing. The addition of first-trimester screening may lead to reduced rates of invasive testing and fewer losses of normal pregnancies.

Adult↗
PubMed1995

Trisomy 18: first-trimester nuchal translucency with pathological correlation.

Diagnosis of trisomy 18 was made following prenatal screening at 11 weeks' gestation for ultrasonographically detected nuchal translucency and subsequent chorionic villus sampling. An intact fetus was therapeutically aborted and pathological examination was undertaken. We conclude that, although the etiology of nuchal translucency remains unclear, it does not appear to be lymphatic or cardiac in origin.

Adult↗
PubMed1989

Transabdominal chorionic villus sampling in a patient with a bicornuate uterus.

In our preliminary experience with transabdominal chorionic villus sampling, we encountered a patient with a uterus bicornis bicollis and anterior fundal placenta, which posed particular technical difficulties for the transcervical approach, but in whom sampling was easily accomplished by the transabdominal route. A description of this case, as well as a discussion of our technique and experience to date, is provided.

Abdomen↗
PubMed2000

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 7-dehydrocholesterol (7DHC) reductase gene (DHCR7). We present our experience with prenatal diagnosis of an affected fetus with a very mild form of SLOS. The mother underwent prenatal diagnosis by chorionic villus (CV) sampling at 11 2/7 weeks because of having two prior affected sons with SLOS. The 7DHC/total-sterol ratio in the fetus was higher than in normal control fetuses but lower than the ratio observed in CV of three other fetuses in whom SLOS was diagnosed prenatally. The pregnancy was terminated at 13 2/7 weeks. The level of 7DHC in amniotic fluid (AF) obtained at the time of pregnancy termination was unequivocally elevated, confirming the diagnosis of SLOS. This report illustrates the difficulties with the interpretation of biochemical prenatal diagnosis based on the determination of 7DHC/total-sterol ratio in CV sample in a case of mild SLOS, whereas biochemical testing of amniotic fluid clearly manifests the biochemical defects of SLOS as early as 13 weeks of gestation.

Adult↗
PubMed1997

Minimally-invasive early prenatal diagnosis using fluorescence in situ hybridization on samples from uterine lavage.

A two-phase study was undertaken to examine the efficiency of using transcervical cells (TCCs) collected by uterine lavage and fluorescence in situ hybridization (FISH) for early prenatal diagnosis of fetal chromosome aneuploidy. Uterine lavage was performed in 50 women scheduled for elective termination of pregnancy (TOP, n = 35) or chorionic villus sampling (CVS, n = 15) between 6 and 11 weeks of gestation. TCCS were dissociated by trypsin and collagenase, and interphase FISH was carried out for chromosomes X, Y, 13/21, and 18. The phase I study comprised 36 women. The FISH results were compared with the cytogenetic analysis from long-term culture of villus samples collected at TOP or CVS. Among the 36 samples, 15 had a normal male karyotype and 21 had a normal female karyotype. FISH on TCCs correctly identified 13 out of the 15 pregnancies with a male fetus. In phase II, uterine lavage was performed on 14 women. The samples were first tested for the presence of trophoblasts with an anti-trophoblast antibody, GB25, by immunohistochemical staining. Among 12 GB25-positive samples, the FISH results corresponded to the fetal karyotype. One of the GB25-positive samples had five signals for the chromosome 13/21 probe. The cytogenetic analysis confirmed that the fetus had a karyotype of 47, XX, +21. In the GB25-negative samples, FISH failed to identify one male pregnancy. Follow-up was carried out on 13 ongoing pregnancies and no maternal or fetal complications were discovered. This study demonstrates that fetal chromosome numeration can be carried out using FISH on uterine lavage samples in early pregnancy. However, a specific fetal cell marker, such as specific anti-trophoblast antibody, is necessary to avoid a false-negative result.

Adult↗
PubMed1991

Single-center comparison of results of 1000 prenatal diagnoses with chorionic villus sampling and 1000 diagnoses with amniocentesis.

Large multicenter studies have confirmed the safety and accuracy of chorionic villus sampling as a prenatal genetic diagnostic procedure, but there have been few single-center evaluations. We report our experience with 1000 consecutive chorionic villus sampling procedures compared with 1000 consecutive amniocentesis procedures during the same period. The procedures were performed by the same genetic counselors, sonographers, obstetricians, and laboratory personnel. Indications for referral, demographic characteristics of patients, numbers of attempts per patient, fetal loss rates, laboratory results, and evaluation of accuracy are included. Analysis of all data suggests that chorionic villus sampling is a safe and accurate alternative to amniocentesis in our community-based teaching hospital.

Adult↗
PubMed2003

Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques.

We report genetic characterization of isochromosome 18p using a combination of cytogenetic and molecular genetic methods, including multiplex fluorescent PCR. The patient was referred for chorionic villus sampling (CVS) due to advanced maternal age and maternal anxiety. The placental karyotype was 47,XX,+mar, with the marker having the appearance of a small supernumerary isochromosome. Because differentiating between isochromosomes and other structural rearrangements is normally very difficult, a variety of genetic tests including fluorescence in situ hybridization (FISH), PCR, and multiplex fluorescent PCR were undertaken to determine chromosomal origin and copy number and, thus, allow accurate diagnosis of the corresponding syndrome. FISH determined that the marker chromosome contained chromosome 18 material. PCR of a variety of short tandem repeats (STRs) confirmed that there was at least one extra copy of the maternal 18p material. However, neither FISH nor PCR could accurately determine copy number. Multiplex fluorescent PCR (MF-PCR) of STRs simultaneously determined that: (1) the marker included 18p material; (2) the marker was maternal in origin; (3) allele copy number indicated tetrasomy; and (4) contamination of the sample could be ruled out. Results were also rapid with accurate diagnosis of the syndrome tetrasomy 18p possible within 5 hours.

Adult↗
PubMed1991

The phenotype in placental trisomy 7.

Trisomy 7, in mosaic state, was identified at chorionic villus sampling. The pregnancy was closely followed, and proceeded uneventfully. Mosaic trisomy 7 was confirmed in the term placenta, the organ having no structural abnormalities; the karyotype of the phenotypically normal baby was 46,XY. Trisomy 7, mosaic or nonmosaic, detected at chorionic villus sampling in an ultrasonographically normal pregnancy, appears typically to be associated with a normal fetal karyotype, and placental growth, structure, and function are not discernibly compromised.

Adult↗
PubMedDate not supplied

A rapid PCR-based method to distinguish between fetal and maternal cells in chorionic biopsies using microsatellite polymorphisms.

In some chorionic villus biopsy (CVB) cases the fetal/maternal origin of the tissue obtained is uncertain. An approach which only requires small amounts of CVB tissue to establish its origin is described. Since it is only the samples typed as female that could be either fetal or maternal, a paternal X chromosome contribution is sought by using highly polymorphic X-linked microsatellites.

Alleles↗
PubMed1994

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.

A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I protein C deficiency who presented with neonatal Purpura fulminans. The deletion/insertion mutation found [3351del4, 3350insA] resulted in an Asn102-->Lys substitution and the removal of codon Gly103. First trimester prenatal diagnosis was performed in a subsequent pregnancy by chorionic villus sampling and PCR/direct sequencing; the foetus was shown to be heterozygous for the lesion. This diagnosis was confirmed phenotypically after the birth of a clinically healthy child.

Base Sequence↗
PubMed2001

Outcome of first-trimester chorionic villus sampling for genetic investigation in multiple pregnancy.

OBJECTIVES: To evaluate the efficacy of and risk associated with chorionic villus sampling for genetic investigations in multiple pregnancies, and to evaluate the accuracy of the ultrasonographic detection of chorionicity during the first trimester. PATIENTS AND METHODS: A total of 198 sets of twins and nine sets of triplets from 10 087 consecutive first-trimester pregnancies undergoing chorionic villus sampling were considered. Gestational age ranged from 7 to 12.6 weeks. Assessment and confirmation of chorionicity was based on a multiplicity of features. Dichorionicity was established in 169 sets of twins (85.3%) and trichorionicity in all triplet cases, while 29 twins were considered monochorionic. Chorionic villus sampling was performed transabdominally in all but one case, and identification of the placental insertion of the umbilical cord was the main benchmark for sampling. Sampling risks were evaluated by comparing clinical outcome with that of a control population of 63 dichorionic twin pregnancies which underwent no invasive procedure. RESULTS: Determination of the presence or absence of the lambda sign led to a correct assignment of chorionicity in all cases, while the presence of a membrane thickness of 2 mm or more reflected a 100% specificity with a 22% false negative rate. Sampling was successfully performed in all cases and in only four cases (1.0%) were two needle insertions needed. At follow-up no evidence of incorrect sampling was reported. Karyotyping was provided to all patients, and in 94.1% of cases both short and long-term culture methods were carried out. No difference in fetal and perinatal losses between the study and control populations was found, but a higher rate of deliveries before 37 weeks and of low birth weight babies was noted amongst controls. CONCLUSIONS: Chorionicity in twin pregnancy can be determined with certainty between 7 and 12 weeks of gestation; in cases of confluent placentas reliability is provided by determining the presence or absence of the lambda sign. This study indicates that first-trimester transabdominal chorionic villus sampling is a highly efficient, reliable, and relatively safe approach for genetic diagnosis in twin pregnancies. Although a precise evaluation of the relative risks of chorionic villus sampling and mid-trimester amniocentesis in twins must await randomized control studies, the advantages of a first-trimester diagnosis to enable early decision-making about selective fetal reduction are obvious.

Birth Weight↗
PubMed1995

Invasive techniques for prenatal diagnosis: current concepts.

Recent dramatic advances have been made in our understanding of the genetic basis of diseases. One result will be an increase in the number of pregnant women considered potential candidates for prenatal diagnosis. At the same time, the invasive techniques by which fetal specimens for prenatal diagnosis are obtained have come under increasing scrutiny in the lay press. Practicing obstetricians must have sufficient knowledge of the benefits, risks, and limitations of these techniques to respond to patient inquiries. This article reviews the commonly used invasive prenatal diagnostic methods, including amniocentesis, chorionic villus sampling, and fetal blood sampling, as well as less widely available techniques, such as fetal skin and liver biopsies. Such relevant issues as indications, timing, and fetal risks are covered.

Amniocentesis↗
PubMed1993

Amniocentesis and chorionic villus sampling.

Amniocentesis and chorionic villus sampling have been shown through prospective, multicenter trials to be safe and effective methods of prenatal diagnosis; accordingly, a knowledge of these tests is important for those physicians who care for women during their childbearing years. We review the indications, techniques, safety, accuracy, and efficacy of amniocentesis and chorionic villus sampling and compare the advantages and disadvantages of each diagnostic test. This review should enable physicians to provide appropriate counseling and information to women at increased risk for fetal abnormalities detectable by either of these procedures.

Adult↗