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PubMed1991

Lung function following first-trimester amniocentesis or chorion villus sampling.

Functional residual capacity (FRC) was measured at 2-8 (median 4) weeks of age in 100 infants whose mothers had entered a randomized trial of amniocentesis versus chorion villus sampling (CVS) at 10-13 weeks gestation. At measurement all of the infants were well and none had respiratory problems. No significant difference was found in the FRC of infants whose mothers had undergone amniocentesis (n = 49) compared to those who had undergone CVS (n = 51). The 95% confidence intervals of the difference of the means of the amniocentesis group (29.7 ml/kg) and the CVS group (30.4 ml/kg) were -1.17 and 2.52 ml/kg. Three patients in the amniocentesis group and 2 in the CVS group had an FRC less than 24 ml/kg, which is below the 2.5th centile of the reference range. These preliminary results suggest that there is no difference in the effect on antenatal lung growth of these two first-trimester antenatal diagnostic procedures.

Amniocentesis↗
PubMed1993

Deciding about the unknown: perceptions of risk of women who have prenatal diagnosis.

This paper examines the risk perceptions of women who undergo two prenatal diagnostic procedures, amniocentesis and CVS (chorionic villus sampling). Data were collected from a survey of clinic patients in suburban Washington, D.C. and in San Diego (N = 120). The survey was supplemented by in-depth interviews with prenatal diagnosis users and genetic counselors. Women with more education, as well as those who had CVS rather than amniocentesis, were more likely to view their risk as low. This contradicts the accepted view that users are aware of the higher risks of CVS. Rather, it seems that risk perceptions are socially constructed to achieve cognitive consistency with the action undertaken. Qualitative data suggest that perceptions of risk appear to be influenced not only by the users' demographic characteristics but by the salience and severity of the event in question and by the user's perceived control over it.

Amniocentesis↗
PubMed2004

[Prenatal investigations for Down's syndrome: medical-technical considerations and dilemmas arising from current screening methods].

Prenatal investigations can be divided into specific diagnostic investigations i.e. chorionic villus sampling, amniocentesis and selective ultrasonography for the detection of fetal abnormality, and screening tests which estimate the chances of the condition being present. These include routine ultrasonography and tests based on biochemical and echoscopic markers. Amniocentesis is the most reliable test to detect chromosomal anomalies, but is associated with a low risk of miscarriage and the results are known only relatively late in pregnancy. Implementing the prenatal screening tests will enable the better identification of those women with an increased risk of chromosomal anomalies, and consequently to fewer invasive diagnostic procedures. The choice whether to have prenatal screening should always be made by the parents after they have been told of the advantages and disadvantages of these investigations.

Adult↗
PubMed1994

Pitfalls in the prenatal diagnosis of peroxisomal beta-oxidation defects by chorionic villus sampling.

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid beta-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the beta-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.

Adrenal Cortex↗
PubMed2002

Invasive testing for the karyotyping of mid-trimester intrauterine fetal death (IUFD): a pilot study.

INTRODUCTION: Aneuploidy remains a common cause of fetal loss after the first trimester. Conventional karyotyping from fetal solid tissues post-delivery unfortunately has a poor success rate particularly where the fetus is macerated. To overcome this we obtained amniocentesis and/or chorionic villus samples from mid-trimester intrauterine fetal deaths (IUFDs) prior to medical termination of pregnancy. SUBJECTS: Ten women with diagnosed IUFD between 12 and 24 weeks' gestation underwent amniocentesis and/or CVS performed after counselling. RESULTS: Successful karyotypes were obtained in all pregnancies. Five of the ten pregnancies were complicated by aneuploidy (two with trisomy 21, two with trisomy 18, and one with trisomy 13). CONCLUSION: The high rate of aneuploidy (50%) in this small cohort emphasises the need for karyotyping. A successful karyotype in all ten pregnancies demonstrates the value of offering these procedures before a termination of pregnancy. We would recommend the adoption of this approach in the management of IUFD occurring after the first trimester.

Adolescent↗
PubMed2000

The use of chorionic villus biopsy catheters for saline infusion sonohysterography.

BACKGROUND: Saline infusion sonohysterography is one of the recent refinements of ultrasonography that has the ability to enhance imaging of the uterine cavity in a safe, inexpensive and expedient manner. The technique can be difficult in women with a stenotic cervical os. This report describes a single-pass technique using chorionic villus sampling (CVS) catheters for saline infusion sonohysterography. METHOD: Saline infusion sonohysterography requires the transcervical passage of a catheter, through which saline is infused. The subsequent distension of the uterine cavity enhances the ability to detect intrauterine pathology with ultrasonography. In women with cervical stenosis, a catheter can be used in place of the more conventional two-pass technique, which requires the use of a uterine sound or probe followed by a conventional catheter. EXPERIENCE: We have used CVS catheters in women with cervical stenosis on 12 occasions. All have been successful and without significant discomfort to the patient. CONCLUSION: The use of CVS catheters for saline infusion sonohysterography in women with cervical stenosis can alleviate the need to remove the cervical probe prior to introduction of the catheter.

Catheterization↗
PubMed1998

Prenatal screening in the first trimester of pregnancy.

Prenatal screening for fetal abnormalities in an accepted part of modern obstetric management. Improvements on current screening procedures need to address increased diagnostic efficacy and earlier diagnosis. This study evaluates diagnostic efficacy of PAPP-A and F beta-hCG in the detection of first trimester pregnancy abnormalities, including Down syndrome (DS). Of 731 pregnant volunteers, obtained from a mature age population undergoing chorionic villus sampling (CVS), 17 DS and 11 compromised (six numerical (excluding sex chromosome) aneuploidies, five spontaneously failed) pregnancies were detected. Application of an algorithm, which combines PAPP-A and F beta-hCG levels with material age, detected 66.6 per cent of DS pregnancies for a five per cent false positive rate. Similarly, for a 1-2 per cent recall rate, 72.2 per cent of compromised pregnancies were detected. This report supports the notion that prenatal screening at 9-12 weeks of pregnancy is achievable with PAPP-A and F beta hCG quantitation. Whereas mid-gestational screening targetted the detection of fetal abnormalities, screening earlier in pregnancy will detect other pregnancy-related abnormalities, in addition to aneuploidy.

Adult↗
PubMed1997

First-trimester invasive procedures and congenital abnormalities.

A prospective study was undertaken to determine whether first-trimester amniocentesis or chorion villus sampling was associated with an increased incidence of congenital anomalies. The infants of mothers who had undergone first-trimester amniocentesis (EA) (n = 352), chorion villus sampling (CVS) (n = 348) or no invasive antenatal procedure (controls) (n = 264) were examined at a median age of 5 months. Both the EA and CVS groups had a higher proportion of infants with congenital anomalies (n = 18 and n = 22, respectively) than the control group (n = 4) (p < 0.01). Certain of the abnormalities, however, affected only single infants. Compression abnormalities were more common in the EA group than in the controls (p < 0.05), but not in the CVS group. The isolated limb abnormalities which occurred were minor anomalies affecting the digits and were seen in both the CVS (n = 6) and EA (n = 3) groups. First-trimester invasive procedures are thus associated with an excess of congenital anomalies.

Adolescent↗
PubMed1995

Prenatal diagnosis by transabdominal chorionic villus sampling in the second and third trimesters.

From October 1989 through December 1993, 124 pregnant women (114 in the second trimester and 10 in the third trimester) underwent transabdominal chorionic villus sampling (CVS) for prenatal molecular or cytogenetic diagnosis. The mean gestational age was 18.2 weeks. Indications for CVS comprised single gene disease (72%), fetal anomalies detected by ultrasound (17%), advanced maternal age (6%), and previous siblings with chromosomal aberration (5%). Among the 89 fetuses at risk for single gene disease, 20 were diagnosed as affected by DNA analysis. Among the 35 fetuses at risk for chromosomal anomaly, 4 had trisomy, 3 had a 45,XO karyotype and 2 had a structural chromosomal abnormality. The miscarriage rate was 1.8% (2/114) and the spontaneous preterm birth rate was 2.4% (3/124). No maternal or other fetal complications occurred. This study suggested that second- and third trimester CVS is a safe and useful method for prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1999

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.

We have previously reported a genetic study of a neonatal lactic acidosis linked to a pyruvate dehydrogenase complex deficiency due to the absence of the protein X subunit. This rare autosomal recessive disorder is associated with specific deletions in this polypeptide which is encoded by the HsPDX1 gene, located on chromosome 11p1.3. The pathology of the patient was considered to arise from a large homozygous deletion (78del85) found at the 5' end of the HsPDX1 coding sequence. Her heterozygous mother underwent prenatal diagnosis during a subsequent pregnancy. Chorionic villus samples were used for three independent studies: (1) normal levels of the protein X component of the PDH complex were detected by immunoblotting; (2) RT-PCR analysis showed no deletion at the 5' end of the cDNA but the presence of a distinct heterozygous deletion (965del59) at its 3' end inherited from the father; (3) haplotype analysis revealed the presence of the father's mutated allele and the mother's normal allele. It was concluded that the fetus was heterozygous for this separate 3' deletion, so, it was likely to be not affected. This study permitted us to characterize more precisely the genetic abnormalities of the HsPDX1 cDNA occurring in each family's member.

Blotting, Western↗
PubMed2006

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy.

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic development. We report a case of chromosome 8 trisomy in a human embryo examined at Carnegie stage 11 (25 days post-fertilization). It presented severe cardiovascular and central nervous system malformations. METHODS: The unusual bifid heart in this embryo spurred a detailed histological examination, karyotyping of a chorionic villus sample and subsequent FISH on inter-phase nuclei of intra-embryonic sections. RESULTS: Trophoblast cells had a karyotype of 47,XX, +8. Within the embryo proper, FISH demonstrated that the trisomy 8 was homogeneous in embryonic as well as extra-embryonic tissues. FQ-PCR supports a meiosis I origin of non-disjunction. In sections, the pharyngeal arches (including cardiac outflow tract), forebrain, mesonephros and liver were absent. Somites and yolk sac blood vessels were irregularly shaped. CONCLUSION: We show that homogeneous, intra-embryonic trisomy 8 is compatible with implantation and early human development. Molecular pathways that may be compromised and their impact on organogenesis are discussed.

Abnormalities, Multiple↗
PubMed2005

Early invasive diagnostic techniques in pregnant women who are infected with the HIV: a multicenter case series.

OBJECTIVE: Studies that mostly were conducted before the widespread use of combination antiretroviral treatments have reported that antenatal invasive procedures markedly increase the risk of human immunodeficiency virus vertical transmission. We aimed to evaluate the vertical transmission rate and other maternal and neonatal complications among women who were infected with human immunodeficiency virus who underwent antenatal invasive procedures during the second trimester of pregnancy and who were delivered after the advent of antiretroviral regimens. STUDY DESIGN: We conducted a multicenter case series of women who were infected with human immunodeficiency virus who underwent amniocentesis or chorionic villus sampling or cordocentesis during the second trimester of pregnancy and who were delivered after January 1, 1997. RESULTS: Sixty-three of 775 recruited women (8.1%) had performed early invasive diagnostic techniques . This rate has improved progressively from 4% in 1997 to 14%. Two of 60 viable infants (3.3%; 95% CI, 0.6%-10.1%) were infected with the human immunodeficiency virus. This rate did not differ significantly from the transmission rate that was observed in women who did not undergo antenatal invasive techniques (1.7%; P = .30). CONCLUSION: The current risk of human immunodeficiency virus vertical transmission that is associated with early invasive diagnostic techniques is lower than previously reported.

Adult↗
PubMed1998

False-negative findings in chorionic villus sampling. An experimental approach and review of the literature.

61 fetuses/newborns who had an aberrant karyotype in amniocentesis (AC) or percutaneous umbilical blood sampling (PUBS) were followed-up by chorionic villus sampling (CVS) at birth or after interruption. The overall rate of discrepancies is surprisingly high. Among 46 cases with a non-mosaic numerical aberration an AC or PUBS three had a discrepant finding in placental tissue. This was also true in one of seven cases with non-mosaic structural aberrations and in three of five cases with mosaic structural aberrations. All three cases with a mosaic numerical aberration in AC or PUBS were not represented by CVS and/or lymphocytes or fibroblasts, demonstrating the general problem of the unpredictable prognostic value of mosaicism. Our data suggest, that in case of prenatal diagnosis by CVS, using a combined procedure of short-term (STC) and long-term culture (LTC), in our sample we would have missed one case of 45,X (1.6 per cent). When relying only on STC another two cases, one with 47, +21 and one with 46,XX,der(22) would not have been recognized (4.9 per cent, n = 3). All other chromosome aberrations would have been detected by STC alone. On the other hand, one case of 45,X was 'nearly missed' because of low-grade mosaicism in AC (45,X[1]/46,XX[19]), whereas in placental tissues and PUBS only 45,X was represented. This study mimics a false-negative rate of about 1:3000 (STC plus LTC) or about 1:1000 (STC alone) for an a priori risk group of two per cent (e.g., advanced maternal age).

Adult↗
PubMed1991

Postmortem chorionic villus sampling: correlation of cytogenetic and ultrasound findings.

We performed chorionic villus samplings (CVS) in 795 cases in the first trimester during a 13-month period. Of these 35 were found to have a blighted ovum or missed abortion prior to the procedure. Nineteen women consented to have CVS. Ultrasonographic and cytogenetic findings in these 19 pregnancies were correlated. Expected gestational age was determined by last menstrual period. Observed gestational age was determined by crown rump length (CRL) (12 pregnancies) or gestational sac (GS) (7 pregnancies without fetal pole). The differences in days between the estimated and observed gestational ages was determined for each pregnancy. In all 19 CVS samples cytogenetic diagnosis documented aneuploidy. Ten cases had chromosome abnormalities virtually always lethal in the embryonic period (group I). Nine pregnancies had defects with moderate potential for fetal viability (group II). Gestations with low viability potential (group I) had estimated minus observed gestational age discrepancies (23.4 +/- 8.3 days) significantly greater than gestations with moderate viability potential (group II) (8.9 +/- 4.3 days) (P less than .001). The absence of a fetal pole was more common in group I. CVS in pregnancies with missed abortion or blighted ovum is feasible and has a high likelihood of documenting aneuploidy. Furthermore, the more severe the anomaly the more likely there will be very early fetal demise or intrauterine growth retardation.

Abortion, Missed↗
PubMed2003

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.

INTRODUCTION: Mutations at the codon 6 of the beta-globin gene (hemoglobin [Hb] S and HbC) can be routinely identified by various methods and prenatal diagnosis has been available to affected families for several years. However, the presence of maternal cells in fetal samples constitutes a serious potential source of prenatal misdiagnosis and most methods currently used to detect maternal contamination are based on the analysis of highly polymorphic loci. In addition, these methods are labor intensive and time consuming and risk carry-over contamination. METHOD: We describe here a one-step method for mutation detection that uses fluorescent hybridization probes with melting curve analysis for both simultaneously prenatal diagnosis of sickle cell disease and potential maternal contamination. RESULTS: Retrospective and prospective prenatal diagnosis studies (conducted in 20 and 50 cases, respectively), using both the regular procedure and real-time PCR assay show perfect concordant results. We show in addition, that as little as 5% maternal contamination can be detected and that genotype determinations are unambiguous.

Alleles↗
PubMed1997

The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybridization (FISH) was used to enumerate the number of interphase cells containing the isochromosome. The results of these studies illustrate the importance of the use of interphase FISH to detect the presence of the i(12p) in uncultured, non-dividing cells. A review of the literature identified 23 additional cases of Pallister-Killian syndrome diagnosed prenatally. Approximately 50 per cent of these cases were associated with the presence of a congenital diaphragmatic hernia. We suggest that a perinatal-lethal form of Pallister-Killian syndrome is underdiagnosed and recommend that all cases of prenatally detected diaphragmatic hernia be tested for Pallister-Killian syndrome using interphase FISH on uncultured amniocytes.

Abnormalities, Multiple↗
PubMed1990

Spontaneous abortion rate and advanced maternal age: consequences for prenatal diagnosis.

Maternal age related and procedure-related fetal abortion rates were studied in 384 women aged 36 and over scheduled for transabdominal chorionic villus sampling (TA-CVS) at 12-14 weeks of gestation. The pre-TA-CVS abortion rate within 30 days of intake (at 6-10 weeks of gestation) rose from 1.9% at age 35-36 years to 10.9% at 40 years and older. Women entering in the 6th week of gestation had a greater probability of aborting before TA-CVS than women entering after day 48. 26 women aborted spontaneously before TA-CVS, the majority of abortions occurring at 10-12 weeks. TA-CVS was done in 346 women. 11 pregnancies were terminated because of genetic anomalies, and 8 women had spontaneous fetal loss. These findings justify delaying prenatal diagnosis in older pregnant women until 12 weeks of gestation.

Abortion, Spontaneous↗
PubMed1991

[Results of transabdominal placental biopsy in the 2nd and 3d trimester].

From August 1988 to October 1990, 115 transabdominal placental biopsies were performed in the second (68%) and third trimenon (32%). The main indication (80%) was the detection of pathological ultrasonographic findings (foetal malformation, growth retardation, oligohydramnios and polyhydramnios). The success rate of chorionic villus sampling (89%) was independent of the localisation of the placenta. A definite cytogenetic result was found in 83% of patients. By combination of placental biopsy and amniocentesis (n = 77) karyotyping was successful in 97% of pregnancies. Chromosomal abnormalities were observed in 15 (13%) cases (7 autosomal and 2 gonosomal aneuploidies, 1 unbalanced translocation, 1 autosomal deletion, 4 structural variants). The outcome of the pregnancies was substantially influenced by the indication for the procedure and by the cytogenetic result. Foetal and peri-/neonatal losses were found in 53% (3% spontaneous abortions) of patients with sonographic abnormalities (n = 92) and in 9% (abortion rate 4%) of pregnancies with regular findings (n = 23). The pregnancy loss rates were 37.7% and 5.9%, respectively. The results confirm the clinical significance of placental biopsy in the management of pregnancies with pathological ultrasonographic findings.

Chorionic Villi↗