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PubMed1996

Prenatal diagnosis by minimally invasive first-trimester transcervical sampling is unreliable.

OBJECTIVE: We investigated whether reliable prenatal diagnosis is possible from fetal cells harvested transcervically in first-trimester pregnancies. STUDY DESIGN: Fetal cells were obtained transcervically from 87 women undergoing pregnancy termination. Fetal gender was determined in 51 pregnancies with three different polymerase chain reaction techniques and in 36 pregnancies with fluorescent in situ hybridization. In known male pregnancies the number of male fetal cells present was also determined. RESULTS: Polymerase chain reaction detected male deoxyribonucleic acid in up to 79% of cases in male pregnancies and up to 45% of cases in female pregnancies. Fetal gender was correctly predicted in up to 72% of cases with fluorescent in situ hybridization. However, fetal cells were identified in < 40% of informative male pregnancies and were present in low numbers-0.7% to 3.4% in swabs and 4.4% to 24.8% in flushes. CONCLUSION: The use of fetal cells obtained by minimally invasive first-trimester transcervical sampling is unreliable for prenatal diagnosis.

Base Sequence↗
PubMed2002

Clinical proceduress in prenatal diagnosis.

The prenatal diagnosis of fetal genetic disease has become a routine part of obstetric care. Pregnancies at risk are identified by a number of factors, including maternal age, positive serum screening, a history of a previous affected child, a parental chromosome rearrangement or an ultrasound-identified anomaly. Invasive diagnostic testing can be performed in the first trimester by chorionic villus sampling or in the second trimester by amniocentesis. Both procedures are safe, with an equivalent 0.5% risk of procedure-induced pregnancy loss. When performed prior to the routine sampling window of 15 weeks, amniocentesis may increase the risk of talipes equinovarus, the highest risk being encountered prior to 13 weeks' gestation. When chorionic villus sampling is performed prior to 9 weeks' gestation, there may be an increased risk of limb reduction defects. The laboratory analysis of both procedures is reliable. Chorionic villus sampling has a 1-2% incidence of confined placental mosaicism, requiring additional evaluation in some cases.

Amniocentesis↗
PubMed1989

To what extent would women prefer chorionic villus sampling to amniocentesis for prenatal diagnosis?

Sixty-six pregnant women and 46 doctors were interviewed about their preferences for chorionic villus sampling (CVS) or amniocentesis for prenatal diagnosis in a hypothetical situation where the indication was late maternal age. The standard gamble method was used to calculate each individual's degree of preference for one procedure over the other (utility) expressed in terms of the risk of miscarriage associated with the preferred procedure that would be tolerated in order to have that procedure. Utilities for each group were calculated and compared. Pregnant women nominated a median utility for CVS of a miscarriage rate of 0.9%, while doctors nominated a median utility for CVS of a miscarriage rate of 1.2%. The difference between these utilities was not statistically significant. The method described in this study can enable potential consumers of a new procedure to provide the minimum 'clinically important difference' between a new procedure and an existing procedure necessary for calculation of the sample size in a controlled clinical trial.

Adolescent↗
PubMed1996

Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).

Glycogen storage disease type 1a (GSD 1a), a severe metabolic disorder, is caused by the absence of glucose-6-phosphatase (G6Pase) activity. Diagnosis is currently established by demonstrating the lack of G6Pase activity in the patient's liver specimen. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as G6Pase is active only in the liver, kidney, and intestinal mucosa. Recent cloning of the G6Pase gene and subsequent identification of the mutations causing GSD 1a have led to the possibility of performing DNA-based diagnosis in chorionic villus samples (CVS) or amniocytes. Here we report the first DNA-based prenatal diagnosis in two families in whom GSD 1a patients were diagnosed. In one Jewish family with a previously identified R83C mutation, single-stranded conformation polymorphism (SSCP) analysis of the DNA extracted from CVS showed a homozygous R83C mutant pattern. As a result, the pregnancy was terminated and the diagnosis was confirmed on DNA analysis of the aborted fetus. In another family of Arabic extraction in which a V166G mutation has been identified in one of the siblings, SSCP analysis performed on DNA extracted from CVS presented the pattern of a normal control. The pregnancy was carried to term and a healthy baby was born. Thus, once mutations causing the disease are identified, prenatal diagnosis of GSD 1a is possible. SSCP analysis of DNA prepared from CVS is reliable, simple and fast, making it a suitable method for prenatal diagnosis.

Chorionic Villi Sampling↗
PubMed1991

Studies on the prenatal chromosomal analysis and the changes of maternal serum alpha-fetoprotein following chorionic villus sampling.

Transcervical chorionic villus sampling (CVS) was performed in 174 patients between 7 & 12 menstrual weeks of pregnancy opting for prenatal diagnosis. Advanced maternal age was the most common indication for CVS (39.7%). The sampling success rate was 95.4% (166/174), representing 88.9% at 7 to 8 weeks, 98.9% at 9 to 10 weeks & 92.7% at 11 to 12 weeks gestation. In 139 of 174 patients (80%), successful sampling was accomplished in one or two catheter passages only. Four spontaneous fetal losses (2.3%) occurred. The cytogenetic analysis routinely used was the direct overnight & long-term culture methods which revealed 4 abnormalities (2.4%). To date, 90 of the women have been delivered & all infants are doing well and the remaining 65 pregnancies are continuing uneventually. Maternal serum alphafetoprotein (MSAFP) concentration was determined in 72 patients immediately before & after CVS. A significant increase of 20% or more, comparable to pre CVS levels, was noted immediately after sampling in 56 of 72 patients (77.8%). The increase in MSAFP concentration correlated with the amount of villi sampled (r = 0.498, p less than 0.001) & with the number of sampling attempts (p less than 0.05). Estimated CVS related fetomaternal hemorrhage (FMH) ranged from 0.005 to 0.1552 ml and in 5 of 72 patients (6.90%) 0.06 ml or more of FMH was noted. Two of the 5 patients had FMH of 0.1 ml or more.

Chorionic Villi Sampling↗
PubMed2000

Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.

Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol Delta(7)-reductase (DHCR7). We diagnosed SLOS in a fetus following intrauterine demise at 32 weeks' gestation. Chorionic villus (CV) sampling had been performed at 30 weeks because oligohydramnios and atrioventricular septal defect were noted on fetal ultrasound. On fetal post-mortem examination, a midline U-shaped soft palate cleft, micrognathia, postaxial polydactyly of the fingers with single transverse palmar creases bilaterally, and cutaneous syndactyly of toes two-three bilaterally suggested SLOS. We hypothesized that SLOS could be confirmed by analysis of tissue sterols despite extensive autolysis, and by measurement of enzyme activity in CV cells. Measurement of DHCR7 activity in CV cells was undertaken using ergosterol as a substrate. CV cells were unable to convert any ergosterol to brassicasterol after a 72 h incubation period while control CV cells reduced 12.6-71.8% of ergosterol to brassciasterol in a 72 h period. SLOS was confirmed by measurement of elevated 7-dehydrocholesterol (7-DHC) in the CV cells. Measurements of sterols were made in multiple fetal tissues. All tissues analysed showed elevated 7-DHC with markedly increased 7-DHC/cholesterol ratios.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of haemophilia.

Haemophilia A is a severe bleeding disorder caused by a deficiency in clotting factor VIII (FVIII). It is an X-linked recessive bleeding disorder affecting one in 10,000 males. Prevalence of the haemophilia gene in the general population has increased recently due to advances in treatment, which has resulted in reproductive fitness among heamophiliacs. Patients suffering from this disease and their families are faced with problems relating to morbidity and mortality from the disease. These include a continual risk of uncontrolled bleeding, haemarthroses and subsequent arthropathy and above all, the genetic risk to progeny. Factor VIII gene is very large with 26 exons. Defects in this gene result in the deficiency of FVIII molecule. With the advent of recent advances in the molecular biology, it is possible to identify the multiple molecular defects such as point mutations, premature stop codons, deletions, and inversions etc in the FVIII gene in patients with haemophilia. Nowadays the use of polymerase chain reaction (PCR)-based linkage analysis and direct mutation detection in the chorionic villus sample obtained at 10-12 weeks of gestation has significantly improved the prenatal diagnosis of haemophilia.

Chorionic Villi Sampling↗
PubMed1996

Confined placental mosaicism.

In most pregnancies the chromosomal complement detected in the fetus is also present in the placenta. The detection of an identical chromosomal complement in both the fetus and its placenta has always been expected as both develop from the same zygote. However, in approximately 2% of viable pregnancies studied by chorionic villus sampling (CVS) at 9 to 11 weeks of gestation, the cytogenetic abnormality, most often trisomy, is confined to the placenta. This phenomenon is known as confined placental mosaicism (CPM). It was first described by Kalousek and Dill in term placentas of infants born with unexplained intrauterine growth restriction (IUGR). Contrary to generalised mosaicism, which is characterised by the presence of two or more karyotypically different cell lines within both the fetus and its placenta, CPM represents tissue specific chromosomal mosaicism affecting the placenta only. The diagnosis of CPM is most commonly made when, after the diagnosis of chromosomal mosaicism in a CVS sample, the second prenatal testing (amniotic fluid culture or fetal blood culture analysis) shows a normal diploid karyotype.

Chorionic Villi Sampling↗
PubMed1990

cblC disease: case report and monitoring of a pregnancy at risk by chorionic villus sampling.

We have studied the uptake of both propionate and leucine in a chorionic villus sample from a fetus at risk for cblC disease. The ratio of propionate to leucine incorporation (x 10(-3] was 3.85 +/- 0.27 (n = 8) in the at risk sample, and 2.8 +/- 0.14, and 3.1 +/- 0.15 (n = 4) in two control samples. The finding of an unaffected fetus was confirmed by the absence of methylmalonic acid in amniotic fluid or maternal urine in the second trimester, and after birth by study of cultured fibroblasts from the baby. Because of the reported variability in propionate incorporation in chorionic villus biopsies, however, we recommend that chorionic villus sampling be confirmed by amniocentesis.

Adult↗
PubMed1989

[The obstetrical aspects of amniocentesis and chorionic biopsy].

Threatened abortion, a history of operation or tumor-like masses of the uterus and adnexa were seen in 70 women who underwent amniocentesis or chorionic villus sampling for prenatal diagnosis. A control group comprised 40 women with similar obstetric risks who refused to have the invasive studies done. Evidence has been obtained to indicate that, with certain provisions, amniocentesis and chorionic villus sampling may be employed in situations which are regarded as contraindications.

Abortion, Therapeutic↗
PubMed1989

[Transcervical chorion villous biopsy for prenatal diagnosis in the first trimester. A report of the activity during the first 4 years].

Prenatal diagnosis in the first trimester was established in 318 pregnancies at risk by means of transcervical chorion villus sampling (TC-CVS). Criteria for exclusion were discrepancy between the crown-rump length (CRL) and the expected week of gestation, if there was simultaneously insufficient increase in CRL during a week. With the exception of two cases, (0.6%) the specimens of villi obtained were sufficient for diagnostic purposes (mean: 55 mg (8-200 mg]. Twenty-five patients underwent terminations of pregnancy on account of the abnormal findings and one for social reasons. The fetal loss following CVS was seven (2.4%). No serious maternal complications occurred. Vaginal bleeding presumably on account of perforation of the placenta by the catheter was seen in 8.5% (27) of the cases and does not appear to influence the continuing pregnancy. The cytogenic results were all based on the direct prepartion method and also on culture technique and these were successful in 100%. Two false positive results (0.6%) were found in the direct preparation but normal findings were obtained on culture. No false negative results were found. Late complications i.e. preterm delivery (4.6%), perinatal loss (0.7%) and neonatal death (0.7%) did not exceed the expected values. The mean birthweight was within the normal range. It is concluded that transcervical CVS with the Trophocan catheter seems to be a safe and easy way to obtain prenatal diagnosis and this could be offered on the same terms as amniocentesis.

Adolescent↗
PubMed1995

Retrospective study of trisomy 18 in chorionic villi with fluorescent in situ hybridization on archival direct preparations.

Trisomy 18 in direct chorionic villus preparations needs further investigation since the chromosome abnormality may be confined to the placenta and may not represent the actual fetal karyotype. We performed, retrospectively, fluorescent in situ hybridization (FISH) with the chromosome 18 centromere probe (L1.84) on interphase nuclei of destained slides of all cases of full trisomy 18 (n = 22) and mosaic trisomy 18 (n = 8) detected among 7600 first-trimester chorionic villus samples during an 8-year period (1985-1992). More nuclei displaying three signals were encountered in cases of full and mosaic trisomy 18 confirmed in fetal tissue than in non-confirmed cases. FISH can be useful for the verification of trisomy 18 in direct chorionic villus preparations.

Chorionic Villi Sampling↗
PubMed1999

Adverse effects of chorionic villus sampling: a meta-analysis.

Meta-analysis is a popular tool for combining evidence from several related studies. The technique is usually used to combine randomized clinical trials, case-control studies or prospective studies where each study has its own exposed and unexposed groups. By including separate 'study effects' (either fixed or random), one can combine information about differences between control and exposed groups, while still allowing for study heterogeneity. In this paper, we extend existing methods to combine studies of disparate designs, where some studies do not include concurrent controls. We apply the methods to a meta-analysis of the association of prenatal testing via chorionic villus sampling with the occurrence of terminal transverse limb defects.

Binomial Distribution↗
PubMed1994

Prenatal exclusion of Stickler syndrome.

Stickler syndrome is an autosomal dominant disorder of the connective tissue which includes ocular and systemic manifestations. We report on a large kindred in which we were able to demonstrate very tight linkage between the disease and the type II collagen gene (COL2A1) (LOD score 3.91 at theta = 0). In a family in which the father and one of his daughters were severely affected, DNA analysis from a chorionic villus sample demonstrated that the fetus possessed the normal allele of COL2A1. Thereafter a normal child was born.

Chorionic Villi Sampling↗
PubMed1997

Transient bradycardia in a mouse model for the oromandibulofacial limb hypogenesis syndrome following chorionic villus sampling.

Amniotic sac puncture carried out on day 13 mouse embryos induces a high incidence of craniofacial and limb abnormalities that resemble the anomalies seen in the oromandibulofacial limb hypogenesis syndrome occasionally encountered following chorionic villus sampling carried out during early human pregnancy. It has been hypothesized that this syndrome probably has a vascular basis, possibly due to hypotension and hypoperfusion of tissues secondary to placental trauma, though no detailed aetiology has so far been described. We have determined embryonic heart rates in control embryos, in embryos at intervals following anaesthesia, and following amniotic sac puncture. An increased duration of bradycardia is seen following this procedure which is not observed in anaesthetic-only controls and in embryos in the contralateral (non-operated) uterine horns. We discuss why the incidence of oromandibulofacial limb hypogenesis syndrome is low following chorionic villus sampling, and propose a possible aetiology for the limb abnormalities seen in this condition.

Abnormalities, Multiple↗