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PubMed1996

Chorion villosum does not express progesterone and estrogen receptors during the first trimester of pregnancy.

First-trimester chorion villosum plays the key role in the development of human placenta and secretes a large number of hormones and hormone-related substances. To test whether progesterone and estrogen could have regulatory effects on first-trimester chorion villosum functions, we investigated the presence of progesterone receptor (PR) and estrogen receptor (ER) in 47 chorion villosum samples from patients who underwent abortion during the first trimester of pregnancy. The study was carried out using immunohistochemical methods. No ER and PR positivity was evidenced in the 47 chorion villosum samples examined. The possibility that progesterone and estrogen play a role in the regulation of chorion villosum functions should therefore be excluded.

Antibodies, Monoclonal↗
PubMedDate not supplied

Patient or physician preferences for decision analysis: the prenatal genetic testing decision.

The choice between amniocentesis and chorionic villus sampling for prenatal genetic testing involves tradeoffs of the benefits and risks of the tests. Decision analysis is a method of explicitly weighing such tradeoffs. The authors examined the relationship between prenatal test choices made by patients and the choices prescribed by decision-analytic models based on their preferences, and separate models based on the preferences of their physicians. Preferences were assessed using written scenarios describing prenatal testing outcomes, and were recorded on linear rating scales. After adjustment for sociodemographic and obstetric confounders, test choice was significantly associated with the choice of decision models based on patient preferences (odds ratio 4.44; Cl, 2.53 to 7.78), but not with the choice of models based on the preferences of the physicians (odds ratio 1.60; Cl, 0.79 to 3.26). Agreement between decision analyses based on patient preferences and on physician preferences was little better than chance (kappa = 0.085+/-0.063). These results were robust both to changes in the decision-analytic probabilities and to changes in the model structure itself to simulate non-expected utility decision rules. The authors conclude that patient but not physician preferences, incorporated in decision models, correspond to the choice of amniocentesis or chorionic villus sampling made by the patient. Nevertheless, because patient preferences were assessed after referral for genetic testing, prospective preference-assessment studies will be necessary to confirm this association.

Amniocentesis↗
PubMed1998

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.

We describe six cases of trisomy 13 mosaicism detected at prenatal diagnosis. Most level I and level II trisomy 13 mosaicism detected at prenatal diagnosis is pseudomosaicism or confined placental mosaicism. Rarely, low-level mosaicism at chorionic villus sampling or amniocentesis reflects a true fetal mosaicism. In this case, a normal phenotype is a possible, but not a certain, outcome. Genetic counselling is not straightforward.

Adult↗
PubMed2003

Fetal liver hyperechogenicity on sonography may be a serendipitous sign of a transient myeloproliferating disorder.

OBJECTIVE: To demonstrate that thorough antenatal and postnatal investigations are helpful in any genetic syndrome. CASE REPORT: A woman without a specific risk had a finding of hyperechogenic foci at ultrasound. Karyotype on fetal blood was 47, XY+21 and extensive biochemical investigation revealed abnormal liver function. Given the suspicion of a coincidental hepatic compromise, targeted postmortem examination was performed, which showed hepatic fibrosis, megakaryocytes proliferation and invasion of sinusoid capillaries, all suggestive of a transient myeloproliferative disorder. CONCLUSION: When compared with chorionic villous and amniotic fluid sampling, fetal blood allows the collection of additional data, which may help in understanding the pathological process behind an apparently serendipitous association.

Abortion, Eugenic↗
PubMed1990

Chorionic villus sampling and rare side-effects: will a randomised controlled trial detect them?

Controlled trials have been instigated, comparing the results and complications of chorionic villus sampling (CVS) and amniocentesis. At present most attention has focused on the miscarriage rate, which itself requires large numbers to provide studies of reasonable power. This paper describes a case of stillbirth due to massive placental abruption following CVS. The size of trial needed to provide sufficient power to detect a range of realistic postulated changes in the incidence of this or other important possible complications is calculated. It would appear that the size of sample required is very large, and that present trials will not succeed in detecting possible important differences in late obstetric, neonatal, and other long term complications of the procedure.

Abruptio Placentae↗
PubMed1998

Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing the PMP22 gene. A couple with a previous history of CMT followed by termination of pregnancy was referred to our centre for preimplantation genetic diagnosis (PGD). The husband carries the CMT1A duplication which can be detected by polymerase chain reaction (PCR) analysis using polymorphic (CA)n markers localized within the duplication. PCR amplification of genomic DNA of the parents-to-be with one of the two primers labelled with fluorescein, followed by automated laser fluorescence (ALF) gel electrophoresis of the amplified fragments allows the distinction between both genotypes. Embryos obtained after intracytoplasmic sperm injection (ICSI) were evaluated for the presence of the normal allele of the father. PCR with single Epstein-Barr virus-transformed lymphoblasts and blastomeres resulted in 91.4 and 93.5% amplification efficiency respectively, whereas none of the blank controls gave a positive signal. Allele drop-out (ADO) was observed in eight out of 32 lymphoblasts (25%) or in five out of 21 blastomeres (23.8%). However, within this set-up ADO will never lead to transfer of an affected embryo. A first ICSI-PGD cycle did not result in embryo transfer for the patient. A second cycle involved 10 mature oocytes of which eight were fertilized, resulting in five embryos for biopsy. Two unaffected embryos were available for transfer and resulted in a singleton pregnancy. The genotype of the fetus has been confirmed healthy by chorionic villus sampling.

Alleles↗
PubMed1999

First-trimester transcervical chorionic villus sampling by biopsy forceps versus mid-trimester amniocentesis: a randomized controlled trial project.

Up to now, no data are available comparing amniocentesis and chorionic villus sampling (CVS) using biopsy forceps. A series of 1313 consecutive women referred to our unit before 12 weeks of pregnancy for fetal cytogenetic analysis because of advanced maternal age, were randomized into CVS with the use of transcervical biopsy forceps or mid-trimester amniocentesis. The diagnostic success rates of the two groups were 98 per cent and 100 per cent, and a second procedure was needed in 4.1 per cent (13/314) and in 0. 3 per cent (1/358), respectively. Follow-up was achieved in 98.7 per cent of the pregnancies. Postprocedure spontaneous fetal losses, until the first week after birth, in the 672 pregnancies that completed the trial accounted for 2.2 per cent (7/314) in the CVS group and 2.8 per cent (10/358) in the amniocentesis group. Although the trial was prematurely discontinued, and therefore the sample size was smaller than initially planned, the results indicate that transcervical CVS was as safe as mid-trimester amniocentesis.

Adult↗
PubMed1991

Transcervical (TC) and transabdominal (TA) CVS for prenatal diagnosis in Rotterdam: experience with 3611 cases.

Data from 3611 consecutive CVS (TC, N = 1780; TA, N = 1831) were analysed with emphasis put on influence of maternal and gestational age at CVS on the fetal loss rate less than 28 weeks. For TC-CVS the gestational age varied from 9.3-11.6 weeks, for TA-CVS from 9.3-20 weeks. Sampling efficacy at first attempt was 86.5 per cent and 95 per cent respectively. In 4.6 per cent an abnormal result was established. In older mothers (N = 2362) the fetal loss rate was significantly higher (p = less than 0.05) when sampled before 12 weeks (TC-CVS 6.2 per cent, TA-CVS 5.8 per cent). When the CVS (TA) was performed after 12 weeks the fetal loss rate decreased to 2.4 per cent. In 1079 younger women the fetal loss rate remained low (TC 2.8 per cent; TA less than 12 weeks 1.8 per cent; TA greater than 12 weeks 1.7 per cent) and was not influenced by gestational age at the time of sampling. We concluded both methods safe and reliable when the choice of application considers maternal age.

Abortion, Therapeutic↗
PubMed1999

Trends in cytogenetic prenatal diagnosis in the UK: results from UKNEQAS external audit, 1987-1998.

The aim of this audit was to evaluate trends in mean reporting time, culture success rate and abnormality rate for conventional cytogenetic prenatal diagnoses for amniotic fluid samples (AFS) and chorionic villus samples (CVS) in the UK. Anonymized data in the form of retrospective external audits were obtained from UKNEQAS in Clinical Cytogenetics annual reports, for AFS (1987-1997/98) and CVS (1988-1997/98). UK laboratories providing a prenatal service by referral criteria applicable at local level participated in the scheme. Over the period the number of AFS processed per annum increased from 28 639 to 36 817 (29 per cent) and for CVS from 2294 to 7918 (245 per cent). CVS made up 17.6 per cent of the total sample numbers in 1997/98 compared with 7.4 per cent in 1988. Reporting times and culture success rates have improved, notably overall reporting time means have fallen from 20.2 to 13.8 days for AFS and 21.3 to 14.5 days for CVS. Data submitted by individual laboratories suggest that further reductions in mean reporting times for both sample types are feasible. Such a potential improvement, if achieved by all laboratories, may question the value of a supplementary FISH or PCR-based 'rapid' aneuploidy screening test prior to karyotyping.

Amniocentesis↗
PubMed1998

Amniocentesis before 14 completed weeks as an alternative to transabdominal chorionic villus sampling: a controlled trial with infant follow-up.

A (semi-) randomized controlled study with long-term follow-up was conducted to compare the effects of transabdominal chorionic villus sampling and early amniocentesis on fetal mortality and child morbidity. Women requesting early prenatal diagnosis for advanced maternal age were allocated to early amniocentesis or transabdominal chorionic villus sampling either by randomization or, if they declined randomization, by their own choice. Of the 212 women who entered the study, 117 were randomized, 70 chose early amniocentesis and 25 chose transabdominal chorionic villus sampling. Overall, 130 women underwent early amniocentesis and 74 underwent transabdominal chorionic villus sampling at a median gestation of 12 weeks. Two women were excluded because of fetal death before the procedure. Mosaic karyotypes were found in 5.4 per cent of the early amniocenteses and in none of the chorionic villus samples. All unintended fetal losses occurred after early amniocentesis with a frequency of 6.2 per cent (95 per cent confidence interval: 2.7 per cent to 11.8 per cent). Talipes equinovarus was only observed after early amniocentesis with a frequency of 3.1 per cent (95 per cent confidence interval: 0.8 per cent to 7.7 per cent). We conclude that chorionic villus sampling remains the method of choice if prenatal diagnosis is needed in the first trimester of pregnancy.

Amniocentesis↗
PubMed1996

Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis.

Type Ia glycogen storage disease (GSD), an autosomal recessive metabolic disorder, is caused by a deficiency in glucose-6-phosphatase (G6Pase). We had previously identified the nature of the causative mutations in a Chinese family whose first two children were affected with type Ia GSD. Two different point mutations in the G6Pase gene, a guanine to adenine substitution at base position 327 in exon 2 and a thymine to adenine substitution at base position 1101 in exon 5, change the restriction sites for the enzymes Fok I and Hinc II. Family study revealed that both parents were heterozygous carriers: the father with a mutant G6Pase allele at exon 2 and the mother with another mutant G6Pase allele at exon 5. This paper deals with a prenatal diagnosis on the fetus of this family who is at risk of type Ia GSD. Genomic DNA was extracted from a chorionic villus biopsy sampled at the tenth week of gestation. Exons 2 and 5 of the G6Pase gene were amplified by the polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequence analysis. DNA analysis indicated that the fetus was a heterozygous carrier of type Ia GSD with a mutant G6Pase allele at exon 2 and a normal G6Pase allele at exon 5. The diagnosis was further confirmed by the same method with cultured amniocytes and with a blood sample after the baby was born. This is the first report of prenatal carrier detection of type Ia GSD at the gene level.

Chorionic Villi Sampling↗
PubMed2002

Obstetric outcome after fetal reduction to singleton pregnancies.

OBJECTIVE: To study the outcome after fetal reduction or selective termination to singleton pregnancies for various indications. METHODS: Fetal reduction or selective feticide to singleton pregnancies was performed in 80 multiple gestations (congenital malformations, 17 cases; high-risk obstetric conditions, 25 cases; or social/psychological indications, 38 cases). RESULTS: The overall pregnancy loss rate was 10%; however, pregnancy failure was significantly higher in selective reductions performed for preterm prelabor rupture of membranes (PPROM) (4/8) compared with monochorionic twin and bad obstetric history. Fetal reduction to singletons for psychological reasons resulted in a pregnancy wastage of 5.3% (2/38). Procedures performed at < or =14 weeks showed a significantly lower fetal loss rate (2/61; 3.3%), a higher mean gestational age at delivery (38.3+/-2.2 weeks), and a decreased prematurity rate (p< or =0.001). The number of reduced fetuses, prenatal diagnosis by chorionic villus sampling before the reduction and maternal age did not interfere with pregnancy outcome. CONCLUSION: Fetal reduction to singleton pregnancies has a favorable outcome, especially when performed before 14 weeks of gestation.

Abortion, Spontaneous↗
PubMed1989

Integration of the transabdominal technique into an ongoing chorionic villus sampling program.

Data are presented on 869 patients undergoing chorionic villus sampling procedures by one of two sampling techniques: 544 by a transcervical catheter aspiration method and 325 by a transabdominal two-needle aspiration method. The transcervical approach was the only procedure used in the first 330 cases, at which time the transabdominal technique was incorporated into our program. After an initial learning curve in the first 100 procedures the transcervical fetal loss rate stabilized at 2.7%, the number of patients requiring more than one catheter insertion decreased to 11%, and tissue weights greater than or equal to 10 mg were obtained in 88% of cases. The fetal loss rate for transabdominal chorionic villus sampling was 2.6%, indicating the addition of this new method did not significantly alter the fetal loss rate. Transabdominal chorionic villus sampling had an overall success rate of 99%, with only one insertion of the guide needle required for 98% of patients. Tissue weights of greater than or equal to 10 mg were obtained in 99% of cases. These results demonstrate that the transabdominal procedure can be rapidly and effectively incorporated by an operator already experienced with transcervical chorionic villus sampling. Since several contraindications exist for either chorionic villus sampling method, the availability of both techniques at a single center greatly enhances the ability to offer first-trimester fetal diagnosis to a majority of patients.

Abdomen↗
PubMed1993

Acute hemodynamic effects induced by chorionic villus sampling: a preliminary investigation.

OBJECTIVE: Our purpose was to evaluate the effects of chorionic villus sampling on the fetal heart rate, the fetal umbilical artery pulsatility index, and the maternal arcuate artery resistance index. STUDY DESIGN: M-mode fetal heart rate, pulsed Doppler fetal umbilical artery pulsatility index, and maternal arcuate artery resistance index measurements were obtained before and immediately after chorionic villus sampling in 50 patients and were compared with 50 procedure-free, gestational age--matched controls. Comparisons within groups were performed with paired T tests and mean changes between groups with two-sample T tests, and variance comparisons between groups were performed with F tests. RESULTS: The mean changes (SD) in fetal heart rate, umbilical artery pulsatility index, and arcuate artery resistance index in patients undergoing chorionic villus sampling and in controls were not statistically different from zero or from each other. However, the variance around the mean fetal heart rate change was 17.1 times larger in the chorionic villus sampling group than the control group (F 17.1, degrees of freedom 49,49, p < 0.0001), and the variance around the mean pulsatility index change was 2.7 times larger in the chorionic villus sampling group than in the control group (F 2.7, degrees of freedom 49,49, p = 0.0007). There was no significant difference in mean resistance index change or variance around the mean resistance index change between groups. CONCLUSION: Chorionic villus sampling induces significant but unpredictable fluctuations in fetal heart rate and umbilical artery pulsatility index but does not affect maternal arcuate artery resistance index.

Analysis of Variance↗
PubMed1996

Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994.

Accumulated experience of 138,996 cases of chorionic villus sampling shows that chorionic villus sampling is a safe procedure with an associated fetal loss rate comparable to that of amniocentesis. The chorionic villus sampling registry shows that chorionic villus sampling is currently performed primarily between 9 and 12 weeks' gestation and carried no increased risk of limb reduction defects: the overall incidence of limb reduction defects after chorionic villus sampling is 5.2 to 5.7 per 10,000, compared with 4.8 to 5.97 per 10,000 in the general population. Analysis of the pattern distribution of limb defects after chorionic villus sampling revealed no difference from the pattern in the general population. This applies specifically to transverse limb defects. Together with the overall incidence of limb reduction defects, these data provide no evidence for any risk for congenital malformation determined by chorionic villus sampling. Because chorionic villus sampling is currently performed generally after 8 completed weeks of pregnancy, few data are available for analysis of complications related to earlier procedures. Avoiding early chorionic villus sampling also excludes sampling in cases of early fetal death, which can be diagnosed reliably by ultrasonography at 9 weeks of pregnancy.

Chorionic Villi Sampling↗
PubMed1989

Spontaneous and induced chromosome breakage in chorionic villus samples: a cytogenetic approach to first trimester prenatal diagnosis of ataxia telangiectasia syndrome.

Patients with ataxia telangiectasia (AT) syndrome exhibit a high level of spontaneous chromosome aberrations, with hypersensitivity to gamma radiation and radiomimetic chemicals at the chromosomal and cellular level. Previously pregnancies at risk for AT have been screened solely by analysis of amniotic fluid samples. In this report we describe a cytogenetic approach to the prenatal diagnosis of AT using chorionic villus sampling (CVS). Levels of spontaneous and induced (gamma radiation and bleomycin) chromosome breakage were established in direct, semidirect, and culture preparations of CVS samples from normal pregnancies. The methods developed were then successfully applied to the screening of a pregnancy at risk for AT. Semidirect preparations showed normal levels of chromosome breakage, and this result was further confirmed in chorion, amniotic fluid, and lymphocyte cultures. In chorion villus samples, gamma radiation is probably the easiest and most reliable way of discriminating between unaffected fetuses and those with AT.

Adult↗