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PubMed1992

Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-->A using arms.

A family carrying two cystic fibrosis mutations, delta F508 and 1717-1, G-->A, requested prenatal diagnosis. In order to eliminate the need for labelling of allele-specific oligonucleotides and to simplify the analysis, 1717-1, G-->A was detected using an ARMS (amplification refractory mutation system) method (Newton et al., 1989). Fetal DNA was obtained by chorionic villus sampling (CVS) and the ARMS technique was used to exclude the 1717-1, G-->A mutation. The fetus was found to be heterozygous for the delta F508 mutation. ARMS is a simple, quick, non-radioactive method suitable for detecting DNA mutations in various clinical situations.

Adenine↗

PubMed1992

Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA-->TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.

Base Sequence↗

PubMed1992

Removal of retained intrauterine contraceptive devices in pregnancy.

Using real-time ultrasound and clinical expertise gained from chorionic villus sampling, we describe a technique for ultrasound-guided intrauterine device removal in those cases in which the string is not visible. Utilizing a stone clamp for intrauterine manipulation, we were easily able to extract the device without interrupting the pregnancy. We concur with recent recommendations advocating all intrauterine devices can be removed if pregnancy termination is declined.

Adult↗

PubMed1989

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.

Chorionic villus sampling is a method of prenatal diagnosis in the first trimester of pregnancy in which tissue for genetic study is aspirated from the developing placenta by means of a catheter inserted transcervically under the guidance of ultrasonography. In this seven-center study, we compared the safety and efficacy of chorionic villus sampling in 2278 women with those of amniocentesis at 16 weeks' gestation in 671 women. Both groups were made up primarily of well-educated private patients; they were recruited in the first trimester of pregnancy and had viable pregnancies verified by ultrasound examination. Cytogenetic diagnoses resulted from 97.8 percent of the chorionic villus sampling procedures and 99.4 percent of the amniocenteses (P less than 0.05); aneuploidy was found in 1.8 and 1.4 percent, respectively, of the cases in which diagnoses were made. Of the women who underwent chorionic villus sampling, 17 (0.8 percent) subsequently had an amniocentesis because the diagnosis was ambiguous. Two of the diagnoses of aneuploidy (one tetraploidy, one trisomy 22) were later proved to be incorrect. On the basis of pediatric examination of the infants subsequently born to the women in the sample, there were no errors in the determination of sex or the identification of the major trisomies (21, 18, and 13). The rate of combined losses due to spontaneous and missed abortions, termination of abnormal pregnancies, stillbirths, and neonatal deaths was 7.2 percent in the group that underwent chorionic villus sampling and 5.7 percent in the group that had amniocentesis. After adjustment for slight differences in gestational and maternal age, the total loss rate for the women in the chorionic villus sampling group exceeded that for the amniocentesis group by only 0.8 percentage points (80 percent confidence interval, -0.6 to 2.2). The rate of loss of chromosomally normal fetuses after chorionic villus sampling was 10.8 percent among women in whom three or four attempts were made to place the transcervical catheter, as compared with 2.9 percent in those in whom only one attempt was necessary (P less than 0.01). There were no serious maternal infections among the women in this study or among an additional 1990 women who underwent chorionic villus sampling (upper 95 percent confidence limit, 0.08 percent). We conclude that chorionic villus sampling is a safe and effective technique for the early prenatal diagnosis of cytogenetic abnormalities, but that it probably entails a slightly higher risk of procedure failure and of fetal loss than does amniocentesis.

Abortion, Spontaneous↗

PubMed2006

Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, and X by quantitative fluorescence polymerase chain reaction.

OBJECTIVE: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid method for detection of chromosome copy number by amplification of repeat sequences at polymorphic loci. Our objective was to assess the performance of QF-PCR in detecting common aneuploidies in prenatal diagnosis. STUDY DESIGN: The study group consisted of pregnant women referred for amniocentesis or chorionic villus sampling (CVS) due to increased risk of fetal aneuploidy. Samples were collected from known affected and normal pregnancies. These were blindly screened for trisomy of chromosomes 21, 18, 13, and sex chromosome abnormalities, using QF-PCR. DNA from uncultured amniocytes was directly extracted using a modified alkaline lysis method. DNA from CVS was extracted by the phenol-chloroform procedure. Ten short tandem repeat (STR) markers were used for detection of fetal aneuploidy and gender. The STRs were selected for high heterozygosity rates and efficiency of the PCR amplification. The forward primer of each pair was labeled with a unique fluorescent dye. Amplified products were detected by an ABI Prism 310 Genetic Analyzer and results were analyzed using GeneScan Analysis Software. RESULTS: A total of 65 amniotic fluid and CVS samples were collected from affected and normal pregnancies. Two samples were contaminated with blood and were therefore excluded from the analysis. All 29 cases of aneuploidy were correctly diagnosed by QF-PCR, including 17 cases of trisomy 21, 7 cases of trisomy 18, and 5 cases with trisomy 13. The 34 normal samples were also correctly diagnosed as such. Thus, all results were in agreement with the standard cytogenetic results. There were no false-positive or false-negative results. CONCLUSION: We conclude that QF-PCR is a rapid, reliable, and reproducible method that may be used to provide rapid results in prenatal diagnosis of aneuploidy.

Amniocentesis↗

PubMed1991

Trisomic pregnancies have normal human chorionic gonadotropin bioactivity.

Sera from women carrying either chromosomally normal or aneuploid fetuses in the first half of pregnancy were assayed for human chorionic gonadotropin (hCG) bioactivity in order to determine whether differences might provide the basis for a useful antenatal screen for aneuploidy. A mouse uterine weight assay was used to assess hCG bioactivity in sera from 35 patients undergoing chorionic villus sampling (12 normal pregnancies and 23 trisomic pregnancies) and in sera from 18 patients undergoing elective second-trimester abortion (12 presumed normal pregnancies, 3 trisomic pregnancies, and 3 pregnancies with neural tube defects). The hCG bioactivity to immunoactivity (B:I) ratio of normal pregnancies progressively decreased from 7.7 +/- 1.3 at 4-5 menstrual weeks, to 4.7 +/- 0.4 at 9-12 menstrual weeks, to 3.3 +/- 0.5 at 16-20 menstrual weeks. There were no significant differences in the B:I ratios between normal and aneuploid pregnancies in either the first-trimester (4.7 +/- 0.4 versus 5.2 +/- 0.3) or the second-trimester samples (3.3 +/- 0.5 versus 2.6 +/- 0.3), despite significantly greater hCG concentrations in the trisomic pregnancies. We conclude that while aneuploid pregnancies display dysfunctional regulation of hCG expression, the bioactivity of their hCG is normal and does not appear to form the basis for a useful screen for aneuploidy.

Aneuploidy↗

PubMed1994

First-trimester prenatal diagnosis in twin pregnancies.

Two twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis confirmed the error. Selective feticide of the affected fetus was performed. When first-trimester prenatal diagnosis is offered in dichorionic twin pregnancies, confirmation through molecular genetic testing can confirm that villi have been obtained from different fetuses. All parties must be aware that additional invasive diagnostic procedures in the second trimester may be required in cases of doubt.

Adult↗

PubMed1990

First trimester maternal serum alpha-fetoprotein screening for Down syndrome and other aneuploidies.

Low maternal serum AFP (MSAFP) values in the first trimester of pregnancy have been associated with an increased risk for chromosome disorders. In our own first trimester chorionic villus sampling (CVS) series, MSAFP determinations were carried out in 1,448 singleton pregnancies. Aneuploidies were detected in 26 of these. The pre-CVS MSAFP values in these pregnancies were compared to those in pregnancies with normal outcome. Statistical analysis did not show a diagnostically useful correlation between low first trimester MSAFP values and aneuploidy in our cohort.

Aneuploidy↗

PubMed1990

Pain with amniocentesis and transabdominal CVS.

Fifty consecutive patients undergoing transabdominal chorionic villus sampling (CVS) and 52 undergoing amniocentesis completed a questionnaire following the procedure to determine the amount of pain they experienced. Mild pain, discomfort only or no pain was reported by 96% undergoing amniocentesis and 90% with CVS. Moderate or severe pain was reported after completion of the CVS by 8% and following amniocentesis by 2%. Both procedures were well tolerated.

Amniocentesis↗

PubMed1992

Fetal therapy.

In the past year, the results of the European trial comparing chorionic villus sampling and amniocentesis have been published, supporting the findings of the Canadian Collaborative Study of an increased risk associated with chorionic villus sampling. The reporting of an increase in limb reduction abnormalities with chorionic villus sampling before 9 weeks has made us review our current practice. Other developments covered by this review include the management of mild cerebral ventriculomegaly, the treatment of tachyarrhythmias, and developments in fetal surgery. Throughout, the needs for continued collaboration, pooling of data, and the formation of international registers to extend the database from which both doctors and patients may benefit are highlighted.

Amniocentesis↗

PubMed1993

Amniocentesis and chorionic villus sampling.

Amniocentesis performed at 16 to 18 weeks' gestation has been the gold standard approach for prenatal cytogenetic diagnosis. Over the past few years, large collaborative studies on chorionic villus sampling have confirmed the safety and efficacy of chorionic villus sampling as a viable alternative for women seeking prenatal diagnosis. While the expanding experience with chorionic villus sampling has answered questions regarding the safety of the transabdominal approach, it has also raised questions concerning possible associations with limb abnormalities, its usefulness in multiple gestations, and the clinical significance of confined placental mosaicism. These issues, as well as the technical and gestational age limitations of chorionic villus sampling, have led many investigators to study the technical feasibility, safety, and accuracy of amniocentesis performed in the first trimester or early second trimester. While this approach appears both safe and efficacious, there are concerns regarding orthopedic abnormalities and the reliability of first-trimester amniotic fluid acetylcholinesterase and alpha-fetoprotein levels in the diagnosis of neural tube defects.

Abortion, Spontaneous↗

PubMed1992

Reproductive behaviour and prenatal diagnosis following genetic termination of pregnancy in women of advanced maternal age.

One hundred and fifty-one women of advanced maternal age who underwent genetic termination of pregnancy (TOP) were studied for their reproductive behaviour and the type of procedure for prenatal diagnosis in a subsequent pregnancy. A total of 59 women (39 per cent) had a further pregnancy. In all continuing pregnancies prenatal diagnosis was performed, of which 75 per cent consisted of chorionic villus sampling (CVS). Reproductive behaviour following a genetic termination was negatively correlated with maternal age and parity. Both reproductive behaviour and the choice to undergo a diagnostic procedure in the next pregnancy were independent of the type of diagnostic procedure in the previous affected pregnancy.

Abortion, Therapeutic↗

PubMed1993

Prenatal diagnosis of DHPR deficiency by direct detection of mutation.

Prenatal diagnosis was requested by a family carrying a 3 base-pair insertion in the dihydropteridine reductase (DHPR) coding region. A chorionic villus sample was obtained and fetal DNA was isolated directly from this. Diagnosis was performed by a polymerase chain reaction (PCR)-based technique, with a simple electrophoretic assay for the insertion. The fetus was found to be heterozygous for the insertion. This is the first time that prenatal diagnosis of DHPR deficiency has been performed by direct detection of the mutation.

Base Sequence↗

PubMed1999

Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.

Adult↗

PubMed1993

Prenatal diagnosis of Hb H disease due to compound heterozygosity for South-east Asian deletion and Hb constant spring by polymerase chain reaction.

A pregnant woman has two children affected by moderately severe Hb H disease due to compound heterozygosity of South-east Asian deletion and Constant Spring mutation. In her third pregnancy, transabdominal chorionic villus sampling was performed at the tenth gestational week to obtain fetal DNA. The polymerase chain reaction was used for detection of both the South-east Asian deletion and the Constant Spring mutation. Hb H disease was diagnosed in the fetus. After genetic counselling, the couple elected to have the pregnancy terminated.

Abortion, Therapeutic↗

PubMed1991

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation.

Among 289 pregnancies in which chorion villus sampling (CVS) was carried out at 56-66 days' gestation, 5 babies with severe limb abnormalities were subsequently identified. 4 had oromandibular-limb hypogenesis syndromes, and the other had a terminal transverse limb reduction defect. This high incidence raises the possibility that CVS was an aetiological factor for these developmental anomalies.

Abnormalities, Multiple↗

PubMed1993

No effect of maternal smoking in early pregnancy observed on chromosome aberrations in chorionic villus samples.

The effect of maternal smoking on first trimester chorionic villus samples (CVS) was studied by analysing the frequency of chromosome aberrations (CAs) among 20 non-smoking and 20 smoking mothers. The aberrations were classified as chromosome- and chromatid-type breaks and gaps. No statistically significant differences were found in the frequencies of CAs between non-smoking mothers (5.4% or 2.0% gaps excluded) and smoking mothers (3.5% or 1.0% gaps excluded).

Adult↗

PubMed1994

Psychological implications and acceptability of preimplantation diagnosis.

The aim of this study was to ascertain the degree of acceptability of preimplantation diagnosis with blastocentesis in 180 women at risk for beta-thalassaemia awaiting chorionic villus sampling (CVS). The women were asked to fill in a questionnaire some days before sampling. All women who had had previous therapeutic abortion found blastocentesis acceptable. Only 30% of women who had not had previous therapeutic abortion chose blastocentesis, whilst 25% of primigravid women opted for blastocentesis. From these preliminary data it seems that obstetric experience is an important factor in the reproductive choice of women at high genetic risk.

Adult↗