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PubMed1989

The value of routine cervical cultures before transcervical chorionic villus sampling.

In 226 women requesting chorionic villus sampling (CVS), routine cervical cultures were obtained before the procedure. Transcervical CVS was performed irrespective of the test results. The prevalence of potential pathogens in cervical cultures at our institution is low. Beta haemolytic Streptococcus was cultured in 3 per cent of the women. No pathogenic microorganisms were isolated in 64 per cent of the women. There was no relationship between culture results and the outcome of pregnancy. These observations suggest that adequate antiseptic cleansing of the genital tract is a suitable approach and there is no need to routinely perform cultures before CVS.

Adult↗
PubMedDate not supplied

Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment.

BACKGROUND: In 2004, the UK National Screening Committee (UKNSC) recommended that new screening programmes for Down's syndrome need not include karyotyping and can offer prenatal diagnosis for the syndrome with FISH (fluorescence in-situ hybridisation) or PCR as rapid diagnostic tests. The UKNSC also recommended that FISH or PCR tests should only include trisomies 13, 18, and 21. We undertook a retrospective cytogenetic audit to assess the probable clinical effect of these proposed policy changes. METHODS: 23 prenatal cytogenetic laboratories from the UK public sector submitted data for amniotic fluid or chorionic villus samples referred from April, 1999, to March, 2004. We obtained data for the details of all abnormal karyotypes by reason for referral and assessed the efficiency of FISH and PCR rapid tests for the detection of chromosome abnormalities. FINDINGS: Of 119,528 amniotic fluid and 23,077 chorionic villus samples, rapid aneuploidy testing replacement of karyotyping would have resulted in about one in 100 and one in 40 samples having an undetected abnormal karyotype, respectively. Of these missed results, 293 (30%) of 1006 amniotic fluid samples and 152 (45%) of 327 chorionic villus samples were associated with a substantial risk of an abnormal phenotypic outcome. Of 34,995 amniotic fluid and 3049 chorionic villus samples that had karyotyping and a rapid test on the same sample, none of the three technologies was completely reliable to detect an abnormal karyotype, but the best protocol for an interpretable result was PCR and karyotyping or FISH and karyotyping. INTERPRETATION: Replacement of full karyotyping with rapid testing for trisomies 13, 18, and 21 after a positive screen for Down's syndrome will result in substantial numbers of liveborn children with hitherto preventable mental or physical handicaps, and represents a substantial change in the outcome quality of prenatal testing offered to couples in the UK.

Amniocentesis↗
PubMed1993

Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.

OBJECTIVE: Our aim was to develop a rapid and accurate method for the prenatal diagnosis of congenital adrenal hyperplasia using the polymerase chain reaction to detect mutations in the steroid 21-hydroxylase gene. These procedures will help to minimize exposure to dexamethasone treatment of either affected males or unaffected females. DESIGN AND PATIENTS: Chorionic villus biopsy samples were obtained between 10 and 11 weeks gestation from three females carrying fetuses at risk of steroid 21-hydroxylase deficiency. Blood samples were taken from parents and the index case in each family. MEASUREMENTS: Three common mutations in the 21-hydroxylase B gene were detected following DNA amplification. RESULTS: Prenatal diagnosis of congenital adrenal hyperplasia was successful in all three cases. One affected female was treated with dexamethasone to term. In the other two cases, one affected male and one carrier also male, dexamethasone was withdrawn at an early stage. CONCLUSIONS: First trimester prenatal diagnosis of steroid 21-hydroxylase deficiency was achieved in three pregnancies with a strategy based on direct detection of gene mutations.

Adrenal Hyperplasia, Congenital↗
PubMed1997

Chorion villus sampling and limb deficiency--cause or coincidence?

Chorion villus sampling (CVS) is a widely used technique in first trimester prenatal diagnosis. In the early 1990s, two clusters of babies with limb defects following CVS were reported, raising the possibility of a causal association between early CVS and transverse limb deficiency. The evidence for this association is reviewed and shows a diminishing risk for transverse limb deficiency with advancing gestation. The risk of limb deficiency extends through the period of limb morphogenesis and slightly beyond; falling from levels 10-20-fold above background at nine weeks and below, to levels approaching (or only a few-fold above) background at 11 weeks and beyond.

Chorionic Villi Sampling↗
PubMed2006

Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy.

OBJECTIVE: To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice. METHODS: A retrospective cohort study identified all patients with any of seven common fetal aneuploidies (trisomies 21, 18, and 13; 45,X, 47,XXX, 47,XXY, and 47,XYY) at a referral prenatal diagnosis unit from 1983 to 2003. We abstracted type of aneuploidy, time and type of diagnostic procedure, maternal age, and ethnicity as predictors of the decision to terminate. Statistical comparisons were made using the chi-square test. Potential confounding variables were controlled for using multivariate logistic regression. RESULTS: Overall, there were 833 patients who had fetuses with aneuploidy. In our study population, the overall rate of termination was 81%: 86% in cases of autosomal trisomy and 60% in cases of sex chromosome aneuploidy (SCA) (p < 0.001). Rates were lowest in cases with the least severe prognosis, 47,XYY (57%) and 47,XXX (40%) compared with 45,X (65%) and 47,XXY (70%) (p = 0.05). Patients with SCA detected by chorionic villus sampling (CVS) had a higher termination rate than those who had undergone amniocentesis (77% vs 55%, p = 0.015). Increased maternal age was associated with higher termination rates in autosomal trisomy (88% vs 76% p < 0.001) and a trend toward decreased rates in those with SCA (55% vs 71%, p = 0.06). Hispanic women were less likely to terminate pregnancy (69%, p = 0.01) than those from other racial/ethnic groups. CONCLUSION: Type and severity of aneuploidy, type of diagnostic procedure, maternal age, and ethnicity contribute to patients' decision-making in the setting of fetal aneuploidy.

Abortion, Eugenic↗
PubMed1991

Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS.

In 2103 consecutive diagnostic chorionic villus samples, examined in a 4-year period in our clinical genetics unit, 26 samples (1.2 per cent) presented chromosomal mosaicism in the direct and/or long-term culture preparations. Only once (46,XX/47,XX,+9) was the mosaicism confirmed in the fetus. In the cytogenetic follow-up studies of the remaining 25 pregnancies, in no cases could the aberration be confirmed in amniotic fluid or fetal tissue. One patient requested a termination after the CVS result. Of the remaining 24 pregnancies, four (16.7 per cent) ended in a spontaneous abortion. These findings suggest an association between placental mosaicism and fetal loss.

Abortion, Spontaneous↗
PubMed1989

[Choriocentesis: comparison of the effectiveness of a new choriocentesis needle and a transcervical biopsy forceps].

71 samples taken by the transabdominal route were compared with 71 samples taken by forceps through the cervix. A fine (1 mm) transabdominal choriocentesis needle with a thin wall (0.1 mm), a short bevel, and a lateral hole was made to bring together simplicity, effectiveness and safety; success was obtained in 95% of the cases (39/41) of our last 41 samples on the first attempt. For comparison with the forceps, the success rate on the first attempt was only 66% (26/41), but it rose to 97.5% if the patient could take 3 attempts at most. The forceps made it possible to collect a mean quantity large enough (19.9 mg) but it was quite variable (16.7 mg being the range) of complete villi, whereas the choriocentesis needle only gathered a smaller volume (12.7 mg) but more reliable (the range being 3.7 mg). The villi were fragmented, however. To work out the study of the DNA and the karyotype, there is a choice between the forceps and the needle. This choice depends principally on the damage the two techniques can do. This has not been worked out yet in our study except indirectly.

Biopsy↗
PubMed2000

Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses.

We report three false negative prenatal diagnostic results, using direct measurement of glycine cleavage enzyme activity in uncultured chorionic villus tissue from 290 pregnancies at risk for non-ketotic hyperglycinaemia (NKH). Testing was done by two centres: Vancouver, Canada and Lyon, France. One false negative result had activity near the lower limit of the normal range but two samples gave completely normal results well within the control range. All three pregnancies continued and the three children were born affected with NKH. Because of the first result, we now counsel that there is a grey zone of uninterpretable activity where affected and normal enzyme values overlap. Because of the other two results we now counsel that there is an approximately 1% chance of a pregnancy with a normal CVS activity resulting in an affected child. The clinical and biochemical findings in the three families are discussed.

Amino Acid Oxidoreductases↗
PubMed1992

Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction.

Alpha-thalassemia of Southeast Asian deletion (-- SEA/) is very common in Southeast Asia. Homozygosity of this genotype is the major cause of Hb Bart's hydrops fetalis in Taiwan. With polymerase chain reaction using three oligonucleotide primers bridging the common deletion breakpoint, a DNA fragment of 194 basepairs (bp) was amplified in chromosomes with the -- SEA determinant and a DNA fragment of 287 bp was amplified in chromosomes without this deletion. In our pilot study including 8 normal subjects, 20 obligate carriers, and 11 homozygotes of the deletion, all the genotypes were determined and then confirmed by Southern blotting and DNA hybridization with phi zeta globin gene probe. For prenatal diagnosis, 55 at-risk pregnancies were collected. Chorionic villus sampling was done in 51 cases and early amniocentesis was done in 4 cases. Fourteen cases (25.5%) were diagnosed as normal, 25 (45.5%) as heterozygotes, and 16 (29%) as homozygotes of -- SEA. All of the diagnoses were also confirmed as aforementioned. With polymerase chain reaction, the determination of the -- SEA deletion is straightforward and is much quicker and easier than with conventional Southern blotting and DNA hybridization. In areas with a high prevalence of -- SEA deletion, this method provides a rapid tool for carrier detection and prenatal diagnosis.

Asia, Southeastern↗
PubMedDate not supplied

Comparison of chorion villus sampling and early amniocentesis for karyotyping in 1,492 singleton pregnancies.

This was a prospective study in 1,492 women with singleton viable pregnancies undergoing chorion villus sampling (CVS) or early amniocentesis (EA) at 10-13 weeks of gestation because of advanced maternal age, parental anxiety or family history of chromosomal abnormality in the absence of parental chromosomal rearrangement. They were offered the option of having CVS or EA, or to be randomised into one of the two tests. CVS was performed in 652 cases (375 by choice and 277 by randomisation) and EA was performed in 840 cases (562 by choice and 278 by randomisation). Both procedures were carried out by transabdominal ultrasound-guided insertion of a needle (20 gauge) using a free-hand technique. The two techniques were similar in providing a sample (CVS 99.3%, EA 100%) and in giving a non-mosaic cytogenetic result (CVS 97.5%, EA 97.9%). Spontaneous loss (intrauterine or neonatal death) after EA (total group 4.9%, randomised subgroup 5.8%) was significantly higher than after CVS (total group 2.1%, randomised subgroup 1.8%; difference 2.8%, 95% CI 1.3-4.3%, and difference 4%, 95% CI 1.3-6.7%). The gestation at delivery and birth weight of the infants after EA and CVS were similar. In the EA group the incidence of talipes equinovarus (1.66%) was higher than in the CVS group (0.48%), but this difference was not significant.

Adult↗
PubMedDate not supplied

In utero diagnosis of congenital infections by direct fetal sampling.

Counseling for infections during pregnancy has traditionally focused on the clinical and laboratory findings of infection in the mother and the estimated risk of fetal damage associated with possible transmission of infection to the child. Now, with the use of techniques for fetal sampling, it is possible to diagnose infections of the fetus in utero and to correlate that information with the occurrence of fetal damage. The techniques that are available for sampling include amniocentesis, cordocentesis and chorionic villus sampling. The laboratory tests include: a) isolation of the organism in appropriate laboratory systems; b) detection of the DNA or RNA of the organism directly or with amplification with techniques such as PCR; c) detection of the organism by fluorescence or in situ hybridization; and d) identification of IgM or IgA fetal antibody to the organism by ELISA or similar methods. In utero infections can be documented for agents such as rubella, cytomegalovirus, parvovirus, Toxoplasma gondii and human immunodeficiency virus type 1. Further information is needed concerning the sensitivities and specificities of these methods for identifying fetal infection and predicting fetal damage.

Amniocentesis↗
PubMed1989

The dilemma of chromosomal mosaicism in chorionic villus sampling--'direct' versus long-term cultures.

Chromosomal mosaicism is one of several unanswered dilemmas in first-trimester prenatal diagnosis. We report the course of a pregnancy in which a normal karyotype was detected on direct CVS preparation and fetal blood, 100 per cent trisomy 21 in one long-term CVS culture, and low-rate trisomy 21 mosaicism in a second long-term CVS culture and amniocentesis. The phenotypically normal infant had a 6 per cent mosaicism of trisomy 21. It appears that a persistent low-rate mosaicism in different tissues may be indicative of the true status of the fetus.

Adult↗
PubMed1993

First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography.

Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic for a mutation in the gene (COL1A2) which encodes the alpha 2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutation in amplified chorionic villus genomic DNA. Ultrasound examination at 13 weeks 4 days demonstrated femoral deformity and virtual absence of calvarial mineralization. In pregnancies at risk for osteogenesis imperfecta type II, sonographic evidence of skeletal abnormalities may be evident by 13 weeks' gestation.

Adult↗
PubMed1997

Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus.

We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.

Adult↗
PubMed1996

First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family.

We obtained a prenatal molecular diagnosis during the first trimester in a Japanese woman whose first child (the proband) had been a compound heterozygote for infantile hypophosphatasia. We examined chorionic villus DNA samples obtained at 10 weeks of gestation for the base substitutions detected in the proband DNA using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and PCR-allele-specific oligonucleotide (ASO) analysis. The genotype of the fetus was the same as that of the proband. The same mobility shift patterns of single strand conformation polymorphism (SSCP) bands were observed in the fetus and the proband. This molecular approach to prenatal diagnosis appears to be more accurate than the enzymatic method and also more accurate and more rapid than the conventional RFLP method.

Alleles↗
PubMed2004

Profile of beta-thalassemia in eastern India and its prenatal diagnosis.

OBJECTIVE: To control the birth of thalassemic children in India. METHODS: Mutations present in the population of eastern India and in carrier parents seeking prenatal diagnosis were detected by the PCR-based technique of ARMS (amplification refractory mutation system) or gap-PCR. To screen for maternal tissue contamination in CVS, haplotypes associated with the beta-globin gene clusters were constructed using six polymorphic restriction sites. Prenatal diagnosis was accomplished by checking presence of parental mutation in the DNA from chorionic villus sampling (CVS) collected at 8 to 10 weeks' gestation by appropriate technique. RESULTS: Six hundred and fifty (650) unrelated beta-thalassemia chromosomes were screened for 11 common mutations to characterize the mutation distribution in this population. Starting from early 2000, 63 families from different parts of West Bengal and from surrounding areas have been offered prenatal counseling for beta-thalassemia. CONCLUSION: The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia.

Chorionic Villi Sampling↗
PubMed1992

Analyses of 95 first-trimester spontaneous abortions by chorionic villus sampling and karyotype.

PURPOSE: Our purpose was to determine the incidence of chromosomal aneuploidy in first-trimester pregnancy losses using chorionic villus sampling (CVS). STUDY DESIGN: All patients presenting for CVS with no fetal cardiac activity were offered CVS. RESULTS: Cytogenetic results were completed in 95 of 96 cases (99%). Eighty-three percent of the karyotypes were aneuploid. The 16 euploid fetuses had no excess of females. CONCLUSION: CVS is the most reliable method of determining the karyotype of spontaneously aborted fetuses. The incidence of aneuploidy is much greater than in previous reports that analyzed passed products of conception. CVS should be offered to women who present with first-trimester spontaneous abortions.

Abortion, Spontaneous↗
PubMed1991

The safety of chorionic villus sampling. A synthesis of the literature.

Altogether 10 reports on the safety of chorionic villus sampling, either by the transcervical (TC) or the transabdominal (TA) approach, were reviewed and combined with our own data. After discussion of how unintended fetal loss rates are best estimated, the excess total fetal loss after TC and TA compared with amniocentesis were estimated to be 1.70% (+/- 0.65%) and practically zero (+/- 1.0%), respectively (standard errors in parentheses). The absolute risk of unintended loss after TC is +2.7% (+/- 0.7%) and after TA 1.0% (+/- 1.0%). These estimates are still too uncertain to allow precise weighting of benefits and human costs. A uniform style of reporting studies in this area is proposed.

Abdomen↗