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PubMed1988

Maternal cell contamination in chorionic villus samples assessed by direct preparations and three different culture methods.

Presumptive maternal cell contamination (MCC) was monitored in identified male cases during cytogenetic comparison of direct techniques and three different culture regimens from 140 thoroughly dissected chorionic villus samples. Of the 66 identified male cases, 11 (16.7 per cent) showed MCC, the mean number of cells examined per case being 8.2 (direct) and 14.5 (cultures); in the direct preparations only one of a total of 457 cells examined was female, while preparations from cultures revealed MCC in 11 cases. Four of these had MCC in more than one culture regime and four had only a single female cell. The results showed that (1) dependence on the culture system alone would have given a diagnosis based on maternal cells in one (1.5 per cent) male case, thus underlining the danger of this approach (a similar undetected rate of misdiagnosis being expected in the female cases) and (2) MCC was significantly lower in cultures grown in Chang medium as compared with the other two regimes, McCoy's 5A + 15 per cent fetal calf serum and 1 per cent Ultroser G, and McCoy's 5A + 25 per cent fetal calf serum, the latter expressing the highest level of MCC.

Chorionic Villi Sampling↗
PubMed1994

Serum PAPP-A and free beta-hCG are first-trimester screening markers for Down syndrome.

Serum measurements of pregnancy-associated plasma protein A (PAPP-A) and the free beta-human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP-A measurements (0.31 MOM, 95 per cent confidence interval (CI) 0.22-0.65 vs. normal 1.06, 95 per cent CI 0.89-1.20) were lower and free beta-hCG subunit measurements (1.13 MOM, 95 per cent CI 0.93-2.63 vs. normal 0.91, 95 per cent CI 0.79-1.03) were higher at statistically significant levels. Receiver operator characteristics (ROC) curves showed that the highest sensitivity for detection, 71.2 per cent (95 per cent CI 54.7-87.6 per cent), was for depressed PAPP-A levels; the combination of low serum PAPP-A levels, maternal age, and elevated free beta-hCG levels yielded a detection rate of 78.9 per cent (95 per cent CI 64.9-92.8 per cent) of the affected pregnancies at 8-12 weeks' gestation.

Adult↗
PubMed1996

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.

Maternal uniparental disomy 15 (UPD15), responsible for approximately 25 per cent of Prader-Willi syndrome cases, is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age. These cases may initially be detected as mosaic trisomy 15 during routine prenatal diagnostic studies. In such cases, PCR (polymerase chain reaction) microsatellite analysis of uncultured cells makes prospective prenatal diagnosis for UPD15 possible with results available in 2-4 days. We have performed molecular analyses on a series of seven cases of mosaic trisomy 15 identified in amniotic fluid (AF, n = 3) or chorionic villus samples (CVS, n = 4) from patients initially referred for advanced maternal age or abnormal triple screen. In all cases, the maternal ages were > or = 35 years and maternal meiosis I non-disjunction was documented as the cause of the trisomy in all informative cases (n = 5). Of the three case with mosaic trisomy 15 at amniocentesis, two showed the presence of the trisomy in the fetus. Molecular analysis showed one case with maternal UPD15 in the euploid cell line and one case with biparental inheritance. Both of these families elected to terminate the pregnancies based on the presence of true fetal mosaicism. In the third case, low-level trisomy 15 mosaicism in the amniotic fluid was not confirmed in a follow-up amniotic fluid sample and molecular analysis indicated biparental inheritance in the fetus. For the four trisomy 15 mosaics detected at CVS, molecular analysis was performed on direct amniotic fluid cell lysates for prospective diagnosis of UPD at 14-16 weeks' gestation. Follow-up cytogenetic analysis of the amniotic fluid in all four cases was normal, indicating confined placental mosaicism. Molecular analysis showed one of these four cases to have maternal heterodisomy 15. Based on the likelihood of Prader-Willi syndrome due to maternal UPD15, the couple chose to terminate the pregnancy. The total of two of seven cases of trisomy 15 mosaicism resulting in UPD15 is consistent with the theoretical expectation of one-third and indicates a high risk of UPD in such pregnancies. Therefore, UPD testing should be offered in all cases of mosaic trisomy 15 encountered in CVS or amniocentesis.

Adult↗
PubMed2006

Complete discrepancy between abnormal fetal karyotypes predicted by QF-PCR rapid testing and karyotyped cultured cells in a first-trimester CVS.

A chorion villus sample (CVS) biopsied at 11 weeks' gestation for raised nuchal translucency, revealed monosomy X (presumptive 45,X karyotype) by QF-PCR for rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y. Long-term culture gave the karyotype: 47,XY,+ 21[66]/49,XYY,+ 21,+ 21 [22]. This discrepancy prompted redigestion of the combined residual villus fragments from the original QF-PCR assay. The repeat QF-PCR assay identified the presence of trisomy 21 and a Y chromosome consistent with a 47,XY,+ 21 karyotype. A double non-disjunction event early in embryogenesis in a 47,XY,+ 21 conceptus with subsequent cell lineage compartmentalisation of the three observed cell lines (45,X; 47,XY,+ 21 and 49,XYY,+ 21,+ 21) would account for these results. This is the first reported case to describe complete discrepancy at diagnosis between abnormal karyotypes detected by QF-PCR rapid aneuploidy testing and a cultured karyotype in the same CVS.

Adult↗
PubMed1989

A 1 and 6 month follow-up of prenatal diagnosis patients who lost pregnancies.

This paper reports results of an exploratory study of prenatal diagnosis patients who experienced voluntary terminations of pregnancy following the detection of an abnormality or spontaneous miscarriages. The 121 participants were part of the national collaborative Chorionic Villus Sampling and Amniocentesis Study. They completed semi-structured telephone interviews and mailed questionnaires at 1 month and 6 months after the pregnancy losses. Scores on the Profile of Mood States showed that mood levels improved significantly over time. However, there were some declines in loss-related support from partners and others. The persisting distress and difficulties of a minority highlight the variability in women's responses to pregnancy losses. Women who lost pregnancies later in gestation, showed the greatest mood disturbances at initial assessments, used professional mental health assistance after the loss, or reported less satisfactory loss-related support from significant others showed the greatest levels of mood disturbance at the six-month assessment. Follow-up contacts with patients who lose pregnancies should be used to inform women about the variation in possible grief reactions, to assess the extent of support the women are receiving from their partners and significant others, and to provide additional follow-up or referral of those experiencing the greatest distress.

Abortion, Induced↗
PubMed2004

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.

OBJECTIVE: This study evaluates the prevalence of 35delG GJB2 mutation, the most common genetic mutation causing prelingual deafness, and its screening feasibility and acceptability in pregnant women undergoing first-trimester CVS for chromosomal abnormality investigation. METHODS: Samples were taken from 5786 pregnant women who requested CVS for chromosomal analysis. The samples were split into two aliquots for chromosome and DNA analysis, respectively. The results of foetal karyotyping were provided 7 days after sampling, at which time the fully informed couple decided whether or not to undergo DNA testing. RESULTS: Of the 5449 eligible candidates, 2997 (55.0%) chose to undergo 35delG testing. Among them, 67 proved to be carriers of the mutation, resulting in a prevalence rate of 1:44.7 (2.23%). There were no homozygous foetuses, but two double heterozygous foetuses were found, and in one case the couple chose to terminate the pregnancy. CONCLUSIONS: The results confirm the high frequency of 35delG mutation in the Italian population. The study shows that prenatal screening for GJB2 mutations in pregnant women with no retrospective risk for deafness appears to be feasible and highly acceptable. Consequently, given evidence that early evaluation and treatment significantly improve speech and language skills, as well as social and emotional well-being in affected children, 35delG mutation analysis in pregnant women booking CVS primarily for chromosomal investigation could be considered a useful addition to more comprehensive population screening strategies.

Chorionic Villi Sampling↗
PubMed1999

How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling?

A semistructured personal interview with 29 female carriers of hemophilia and 23 of their spouses was performed at a median of 3 1/2 years after the first chorionic villus sampling (CVS) and gene analysis. Carriers with a hemophilic father or brother, had high sense of coherence (SOC) scores, and thus would be expected to have good ability to handle the stress of prenatal diagnosis (PD). Prenatal diagnosis of hemophilia by CVS was generally well accepted by the women and their spouses. However, the period while waiting for test results was experienced as emotionally troublesome by both the women and their spouses; women reporting significantly more psychiatric or psychosomatic symptoms than men. Positive effects resulting from participation by the spouse on how the women experienced PD could not be identified. Selective abortion after first trimester PD was clearly experienced as emotionally painful by both the women and their spouses, these reactions being similar to, but not as pronounced as those found after second trimester selective abortion. Notably, signs of depressive mood were observed several years after the abortion, and the provision of psychosocial support should be recommended for couples who decide upon termination of pregnancy following PD.

Abortion, Induced↗
PubMed1990

Patterns of mood states in pregnant women undergoing chorionic villus sampling or amniocentesis.

The purpose of this study was to compare patterns of self-reported mood states of women having chorionic villus sampling (CVS) (n = 151) to those of women electing amniocentesis (n = 30) with the indication of advanced maternal age. Mood states were defined as scores on the 6 subscales of the Profile of Mood States (POMS). Women at 4 U.S. prenatal diagnostic facilities completed the POMS at 4 assessment periods. These were a) at their initial genetic counseling session, b) 2 weeks post CVS results (or an equivalent time), c) 2 weeks post amniocentesis results (or an equivalent time), and d) at 30 weeks gestation. Repeated measures analysis of variance revealed that anxiety, fatigue, and confusion decreased, and vigor increased in both groups as the pregnancy progressed. Depression decreased in both groups and then increased at assessment 4 in women in the amniocentesis group but not in those electing CVS. Results should be interpreted in conjunction with obstetrically and genetically-oriented findings regarding safety and accuracy to help women decide between the 2 procedures.

Adult↗
PubMed1990

The significance of trisomy 7 mosaicism in chorionic villus cultures.

Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the CVS were 46,XY. Culture metaphases were mos46,XY/47,XY, +7; the trisomy 7 was seen in 34 per cent of cells from case 1 and 53 per cent from case 2. A sonogram at 15 1/2 weeks revealed fetal death in utero in case 1, and the patient declined amniocentesis. The fetal tissue failed to grow in culture, but the placental cultured cells were 47,XY, +7 in 28 (100 per cent) cells analysed. In the second case, all the amniotic fluid cells were 46,XY and the pregnancy resulted in a normal male with a 46,XY karyotype in the cord blood and foreskin fibroblast cultures. The term placenta was mosaic with 13/163 (8 per cent) trisomy 7 cells. Extensive cytogenetic studies on the placenta for the first time confirmed trisomy 7 mosaicism confined to the villus cultures.

Adult↗
PubMed1994

Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency were studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed in the majority of cases. Southern blot analysis was carried out to identify deletions or other gross rearrangements. In parallel, the polymerase chain reaction (PCR) was performed, followed by allele-specific oligonucleotide hybridization (ASO) for a panel of nine known mutations. Mutations were identified in 95% of the chromosomes examined. The molecular diagnosis was accurate in 23 of 24 infants. The most common mutation identified was an A-to-G transition in the second intron (52% of affected chromosomes), the result of an apparent gene conversion. One fetus carried homozygous deletion of CYP21, which accounted for 13% of all affected chromosomes. Other mutations identified included an 8-bp deletion in the third exon (22%); Ile172 to Asn, a nonconservative substitution, in the fourth exon (9%); and Gln318 to term, a nonsense mutation, in the eight exon (4%). No mutation was detected in CYP21 in 5% of obligate-affected chromosomes examined by these methods.

Adrenal Hyperplasia, Congenital↗
PubMed2005

Prenatally detected trisomy 20 mosaicism.

BACKGROUND: Trisomy 20 is one of the more common mosaic trisomies detected on amniocentesis and presents with a normal outcome in over 90% of reported cases. Trisomic cells are almost never confirmed in newborn blood and are only rarely found in other fetal or placental samples. Nonetheless, some abnormal outcomes have been reported, including unexplained fetal demise, intrauterine growth restriction, and multiple congenital anomalies. Because of the lack of molecular studies on such cases, it is unknown whether the origin of trisomy or presence of uniparental disomy (UPD) could have some influence on outcome. METHODS: We present data on six cases of trisomy mosaicism, two detected by chorionic villous sampling (CVS) and four by amniocentesis (AF), submitted to our laboratory for molecular studies. RESULTS AND CONCLUSIONS: A meiotic origin of the trisomy could be confirmed in only one of these cases. In addition, uniparental disomy was excluded in all four cases for which parents were available for testing. The four cases with low levels of trisomy in amniotic fluid (0%, 10%, 11%, and 12%) were associated with a normal outcome. The remaining two cases of trisomy 20 had high levels of trisomy in amniotic fluid (96% and 58%) and had abnormal outcomes (developmental delay in one and stillbirth with IUGR and severe oligohydramnios in the other). Including previously published cases, there is a clear association with the level of trisomy and outcome, with only 4% abnormal outcomes when <40% trisomic cells were detected. Higher levels of trisomy were also observed in male fetuses as compared to female fetuses (p = 0.01); however, there were no sex differences in frequency of abnormal outcomes.

Adult↗
PubMed1994

Comparison of first-trimester transvaginal amniocentesis with chorionic villus sampling and mid-trimester amniocentesis.

Between August 1989 and December 1991, 356 patients underwent first-trimester transvaginal amniocentesis (10-12 weeks). The same number of patients referred in the same period for mid-trimester amniocentesis (14-21 weeks) was matched also for maternal age and indication. A third group consisted of the first 356 cases in which chorionic villus sampling (CVS) was attempted. The overall success rate was 99.7 and 100 per cent for early and mid-trimester amniocentesis, respectively, and 97.2 per cent for CVS. The mean harvesting time was 12.8, 11, and 7.9 days, respectively. The percentage of patients rescheduled was 3.4 per cent in first-trimester amniocentesis, 1.7 per cent in mid-trimester amniocentesis, and 6.2 per cent in the CVS group. The early (less than 2 weeks) pregnancy loss was 1.7 and 0.6 per cent in early and mid-trimester amniocentesis, respectively, and 1.7 per cent in CVS. The total pregnancy loss was 3.2, 0.9, and 2.9 per cent, respectively. The rate of preterm birth was 6.0, 5.2 and 6.9 per cent, respectively. The results indicate that CVS has the shortest procedure-result interval, but the highest rescheduling rate. First-trimester amniocentesis has a higher procedure and laboratory success rate but, until otherwise proved, mid-trimester amniocentesis is the most efficient and safest procedure.

Abortion, Spontaneous↗
PubMed1994

Analysis of limb reduction defects in babies exposed to chorionic villus sampling.

In 1991 we reported a cluster of babies with limb abnormalities and suggested that chorionic villus sampling (CVS) was aetiologically associated with these defects. To address the issue more objectively, we have assessed reported limb reduction defects in 75 babies exposed to CVS in utero. 13 babies had an absent limb or a defect through the humerus or femur; 9 had defects through the radius or tibia; 22 defects of the carpus, tarsus, metacarpus, or metatarsus; 25 defects of the digits; and 6 defects of the terminal phalanx or nail only. There was a strong correlation between the severity of the defects and the duration of gestation when CVS was done. The median gestational age at CVS ranged from 56 (range 49-65) postmenstrual days for the most severe category to 72 (51-98) days for the least severe. The relation was seen for both isolated limb defects and for cases with oromandibular-limb hypogenesis syndromes. This relation is further evidence that CVS has an aetiological role in some limb reduction anomalies.

Abnormalities, Multiple↗
PubMed1989

Advances in prenatal diagnosis. Social-psychological and policy issues.

Chorionic villus sampling (CVS), a new technique for prenatally diagnosing chromosomal and genetic disorders, may soon replace amniocentesis. This procedure, performed by inserting a catheter through the pregnant woman's cervix or through the abdomen and removing cells from the placenta, has the advantages of being available earlier in the pregnancy than amniocentesis (at 9 to 11 weeks gestational age) and of yielding results in a shorter time. Although the medical aspects of the procedure are being investigated, its psychosocial and policy implications have not been studied systematically. These issues include the subjective assessment of risk that prompts women to choose or to reject CVS, the implications of earlier diagnosis for feelings about abortion, the potential of negative findings (i.e., the absence of the designated disorder) for well-being during the remainder of the pregnancy, the ramifications of first trimester identification of fetal sex, equity of access to prenatal diagnosis, and the possible over-utilization of these procedures. Drawing on previous research regarding amniocentesis and more recent research concerning CVS, this article discusses the potential implications of CVS.

Chorionic Villi Sampling↗
PubMed1996

Prenatal diagnosis of congenital varicella infection.

Fourteen fetuses at risk of Varicella-Zoster virus (VZV) infection underwent prenatal diagnosis at 10-24 weeks' gestation by a combination of chorionic villus sampling, amniocentesis, and fetal blood sampling. Polymerase chain reaction (PCR) was done on fetal and placental tissues, using primers which define a 221 bp region of the gene coding for the 44 kD protein of VZV. Positive cases were further analysed by dot blot hybridization, using radiolabelled DNA probes corresponding to the Hind III fragment VZV genome. The rate of placental/fetal infection was 36 per cent (5/14 fetuses: 2/11 in the first and 3/3 in the second trimester). At post-mortem examination, two aborted fetuses had hydrocephaly and VZV DNA was found in most of the examined tissues. The nine women who tested negative at prenatal investigation delivered healthy neonates whose VZV-specific IgM antibody titres were negative and none of them developed herpes zoster infection. In view of the high frequency of fetal VZV infection and the reported low rate of malformations, the role of invasive prenatal diagnosis in women who acquire the infection in the first half of gestation is mainly that of reassurance when the test is negative.

Amniocentesis↗
PubMed2006

How painful are amniocentesis and chorionic villus sampling?

OBJECTIVES: To compare the levels of pain and anxiety associated with amniocentesis (AC), transabdominal chorionic villus sampling (TA-CVS), and transcervical chorionic villus sampling (TC-CVS). METHODS: We prospectively administered a questionnaire about pain and anxiety to 124 women undergoing AC, 40 undergoing TA-CVS, and 24 undergoing TC-CVS for singleton pregnancies. The level of pain was quantified with numerical and pictorial scales and the degree of anxiety was quantified with a numerical scale (0-100 in increments of 10). RESULTS: The mean pain score for TA-CVS, 41.4 +/- 18.1, was significantly higher than that for TC-CVS, 26.4 +/- 25.3, p = 0.008. The mean pain score for AC, 35.1 +/- 27.6, was intermediate. A higher degree of anxiety was associated with younger maternal age and nulliparity. A higher degree of anxiety was associated with a higher level of pain. CONCLUSION: In general, each procedure is associated with a tolerable amount of pain. TA-CVS appears to be the most painful procedure while TC-CVS appears to be the least painful procedure. In certain groups of patients, the procedures may be associated with higher levels of pain and/or anxiety.

Adult↗
PubMed2001

Crown-rump lengths in missed miscarriages and trisomy 21.

OBJECTIVES: To compare crown-rump lengths with karyotypes of missed miscarried fetuses and to determine a relationship between crown-rump length and trisomy 21. STUDY DESIGN: Chorionic villus sampling was performed on 129 consecutive missed miscarriages between 10 and 12 weeks by last menstrual period in patients >or= 35 years of age. Crown-rump length was correlated with the karyotype. Statistical analysis was performed using Student's t-test. RESULTS: Twenty-one of 129 missed miscarriages involved fetuses affected by trisomy 21. The crown-rump length was < 22 mm in 77% of missed miscarriages. Using a crown-rump length of >or= 22 mm for the prediction of trisomy 21 had a sensitivity of 86%, specificity of 89%, positive predictive value of 60% and negative predictive value of 97%. At 10-12 weeks, the crown-rump lengths of missed miscarried fetuses with trisomy 21 was significantly larger (P or= 35 years of age, with a missed miscarriage, in whom pregnancies reached >or= 10 weeks from the last menstrual period, a fetal crown-rump length of >or= 22 mm has a high probability that the etiology of the loss will be secondary to trisomy 21.

Abortion, Missed↗
PubMed1992

Effect of chorionic villus sampling on utilization of prenatal diagnosis in women of advanced maternal age.

The effect of the introduction of chorionic villus sampling on the utilization rate of prenatal diagnosis in advanced maternal age was studied during the period 1 January 1985-1 January 1991. On the first of January 1985, the age limit for prenatal diagnosis in The Netherlands was lowered from 38 to 36 years of age. The overall uptake rate during the studied period increased significantly, but only because of the increased uptake rate in the group 36 and 37 years. In the maternal age group of 42 years and older, an uptake rate as low as 15.9% was established. This was mainly determined by the relatively high percentage (73.0%) of women from ethnic minorities in this age group. The number of CVS procedures increased significantly during the study period, but the utilization rate was not influenced, since the number of amniocenteses decreased accordingly. An increase in acceptability of prenatal diagnosis by women of advanced maternal age due to early testing and early termination of pregnancy could not be substantiated in the present study.

Adult↗