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PubMed2002

Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 cases.

OBJECTIVE: The finding of full or mosaic trisomy 13 or 18 in first trimester chorionic villus sampling (CVS) may be a false-positive result. This report provides incidence and outcome information that may be helpful in counselling individual patients and in choosing adequate follow-up. STUDY DESIGN: From a series of 6820 CVS cases, we retrospectively collected data on all patients (n=51) with full (n=30) or mosaic (n=5) trisomy 18, and full (n=13) or mosaic (n=3) trisomy 13 in cytotrophoblast cells. RESULTS: Five false-positives were seen in patients with full trisomy 18 and three in the mosaic cases. One false-positive result was observed in full trisomy 13 and two false-positives in cases of mosaicism. No false-negative results were reported. CONCLUSION: The diagnosis of trisomy 13 or 18 in cytotrophoblasts should be confirmed in other tissues, unless fetal abnormalities are seen at ultrasound. In case of mosaicism, follow-up amniocentesis is advised.

Amniocentesis↗
PubMed1994

Experience with 500 prenatal diagnoses of sickle cell diseases: the effect of gestational age on affected pregnancy outcome.

Prenatal diagnosis of sickle cell diseases is obtained rapidly and precisely by polymerase chain reaction (PCR) with Ddel restriction analysis and dot-blotting with allele-specific oligonucleotides (ASO). Prenatal diagnosis of HgbSS and HgbSC was performed in 500 pregnancies, 196 by Southern blot and 304 by PCR. PCR drastically shortened the interval from sampling to reporting, allowing acceptance even of samples with unknown paternal phenotype, and resulted in an overall four-fold increase in diagnoses. In 108 pregnancies, the diagnosis was an affected fetus; 25 were HgbSC: 3 (12 per cent) were terminated; 83 were HgbSS: four ended in miscarriage; 40/79 (51 per cent) were terminated. The gestational age at the time of report to the mother appeared to be a major outcome determinant when the fetal diagnosis was HgbSS. The change-point in the maternal decision was found at 20 weeks of gestation. Before the 20th week, most mothers (64 per cent) chose termination; thereafter, the majority (72 per cent) chose continuation. The odds ratio of termination in earlier relative to later reporting was 4.7. In order to offer a choice to the mothers at risk of delivering a fetus affected by sickle cell disease, the diagnosis should be reported before the 20th week of gestation.

Amniocentesis↗
PubMed1995

Comparison of women who do and do not have amniocentesis or chorionic villus sampling.

Even in areas where prenatal diagnostic testing is offered at no cost to women over a certain age, uptake of testing is not complete. We have studied the factors that affect uptake in Victoria, Australia. In 1988-92, 43% of 37-39-year-old women and 29% of those 40 years and over had no diagnostic testing despite their eligibility for a free test. We compared the characteristics of untested women (n = 3074) with those of tested women (2462 amniocentesis, 1575 chorionic villus sampling) by use of record-linkage between the Victorian birth register and fetal diagnosis data collection. The indication for testing was maternal age alone. Women who had had 3 or more previous births were less likely than those of lower parity to undergo testing (odds ratio 0.54 [95% CI 0.46-0.63], p < 0.001), whereas those who had had a previous termination of pregnancy were more likely to be tested than those who had not (1.52 [1.26-1.83], p < 0.001). Women born in non-English-speaking countries and women who lived in rural areas were less likely to be tested. Women who gave birth in private hospitals were more likely to be tested than those who gave birth in any public hospital or at home. These data help to distinguish between issues of choice and access to diagnostic testing. Factors that hinder testing of rural women and of those from non-English-speaking backgrounds should be addressed.

Abortion, Induced↗
PubMed2003

Invasive procedures in multiple gestations.

PURPOSE OF REVIEW: The incidence of multiple gestations has increased significantly with advances in assisted reproductive techniques resulting in a concomitant increase in invasive procedures in these pregnancies. Commonly performed invasive procedures include amniocentesis, chorionic villus sampling, multifetal pregnancy reduction, and selective termination. Amniocentesis and chorionic villus sampling are also performed in singleton pregnancies, while multifetal pregnancy reduction and selective termination are procedures that are unique to multiple gestations. RECENT FINDINGS: With increased operator experience, pregnancy loss rates after chorionic villus sampling, multifetal pregnancy reduction, and selective termination have decreased to acceptably low levels. Amniocentesis and chorionic villus sampling continue to have similar loss rates in experienced hands. A recent study suggests that amniocentesis in twins may have a higher post-procedural loss rate than in singletons; this may be due to the higher background loss rate of twins. There has been a recent increase in multifetal pregnancy reduction to a singleton with a trend towards improved outcomes over reduction to twins; future studies should focus on whether this confers a definitive advantage. Newer data suggests that selective termination after 20 weeks gestation in experienced hands does not increase loss rates over those procedures performed before 20 weeks. Newer techniques, such as cord coagulation, continue to be developed for selective termination in monochorionic pregnancies, though still with considerable morbidity and mortality. SUMMARY: In summary, invasive procedures in multiple gestations are now commonly performed with. It is our hope that primary prevention of high order multiple pregnancies by optimization of assisted reproductive techniques will decrease the need for these procedures.

Abortion, Eugenic↗
PubMed2006

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testing. Diagnostic studies included DHCR7 mutation analysis in chorionic villus samples, amniotic fluid sterol analysis and serial measurements of oestriol (E3), pregnanetriol (PT), 7-dehydropregnanetriol (7DHPT) and 8-dehydroesteriol (8DHE3) concentrations in maternal urine samples obtained between 9 and 20 weeks of gestation. All tests were diagnostic and revealed nine unaffected foetuses (two normal homozygotes and seven DHCR7 heterozygotes) and one affected foetus. In the affected pregnancy, 7DHC and 8DHC in amniotic fluid were 9.87 and 3.7 microg/ml, respectively [reference range (RR) 0.0026 +/- 0.0015 microg/ml and not detectable, respectively] and maternal urinary steroid analyses showed increased ratios of 7DHPT/PT and 8DHE3/E3 of 0.74 and 1.7, respectively (RR 0-0.0147 and 0-0.019). In the heterozygous foetuses, 7DHPT/PT and 8DHE3/E3 ratios did not exceed those found in 48 normal controls. This is the first series of prenatal diagnostic testing for SLOS where non-invasive biochemical testing was performed in tandem with invasive diagnostic testing. We conclude that steroid measurements in maternal urine are a reliable means of prenatal diagnosis for SLOS.

Adult↗
PubMed1995

Increased incidence of cytogenetic abnormalities in chorionic villus samples from pregnancies established by in vitro fertilization and embryo transfer (IVF-ET).

We studied 201 pregnancies that were established by in vitro fertilization and embryo transfer (IVF-ET) and compared the frequency of cytogenetic abnormalities with that found in a large control population matched for indication group (advanced maternal age) and time of sampling. A total of 252 IVF-ET fetuses were cytogenetically analysed by either chorionic villus sampling (CVS; n = 80) or amniocentesis (n = 172). Eleven chromosome abnormalities were found in the CVS group (13.8 per cent); among them, a 45,X/46,X,dic(Y)(q11)/46,X,del(Y)(q11) mosaic that was found in an IVF pregnancy established by intracytoplasmic sperm injection (ICSI), four cases of trisomy 21, and three cases of trisomy 7 confined to the placenta. The results indicate a statistically significant three- to five-fold increase in both confined placental abnormalities (P < 0.008) and true fetal chromosome anomalies (P < 0.04). In the amniocentesis group, identical rates (1.7 per cent) of chromosome abnormalities were found in the IVF-ET and control groups. It is concluded that late first trimester, but not early second trimester, IVF-ET pregnancies are characterized by an increased frequency of cytogenetic abnormalities found at prenatal diagnosis.

Adult↗
PubMed1995

First-trimester ultrasound screening for fetal aneuploidies in women over 35 and under 35 years of age.

In a prospective screening study, the utility of the thickness of first-trimester simple hygroma in sonographic screening for fetal chromosomal aberrations was examined. A total of 3380 women, 1280 of whom were 35 years or over, and 2100 of whom were under 35 years, were screened by ultrasound at 9-12 weeks of gestation. The thickness of fetal nuchal simple hygroma was measured. Women over 35 years of age underwent transabdominal chorionic villus sampling (CVS). In women under 35 years of age, CVS was offered only if the thickness of nuchal hygroma was at least 3 mm, or in cases of parental chromosomal abnormalities. A total of 46 chromosomal anomalies were detected, of which 43 (93.5%) showed simple hygroma. The incidence of first-trimester simple nuchal hygroma in pregnancies of women over 35 and under 35 years of age was 5.4% (69 cases) and 1.28% (27 cases), respectively, and the percentage of chromosomal abnormalities was 2.9% and 0.43%, respectively. The risks of trisomies and poor pregnancy outcome were increased at larger sizes of first-trimester simple hygroma. A sensitivity of 93.5% and a specificity of 98.4% of the method were found. Using a measurement of first-trimester simple hygroma of > or = 3 mm to identify pregnancies at risk for chromosomal anomalies at 9-12 weeks of pregnancy is a useful method for selection of women with high and low risk for aneuploidy.

Adult↗
PubMed1993

Low maternal serum levels of pregnancy associated plasma protein A (PAPP-A) in the first trimester in association with abnormal fetal karyotype.

OBJECTIVE: To assess the relation between maternal serum pregnancy associated plasma protein A (PAPP-A) in the first trimester and the outcome of pregnancy by karyotype. DESIGN: A retrospective study of PAPP-A levels in blood samples collected prior to chorionic villus sampling. SETTING: Milan, Italy. SUBJECTS: Five hundred twenty-two women aged 20 to 47, at 7 to 11 weeks gestation, prior to undergoing chorionic villus sampling. Four hundred forty-five women had a pregnancy with a normal karyotype; in 30 pregnancies the karyotype was abnormal (including 14 cases of Down's syndrome and 7 of trisomy 18). MAIN OUTCOME MEASURES: Normal or abnormal fetal karyotype. Serum PAPP-A at 6 to 11 weeks gestation measured by radioimmunoassay. RESULTS: The median value of PAPP-A in the abnormal group was 0.27 multiples of the normal median (MoM). This is significantly lower than the median value in the normal group (1.01 MoM) (95% CI for the difference 0.46-0.84 MoM; P < 0.00001 Mann-Whitney test). CONCLUSIONS: There is an association between low levels of PAPP-A in the first trimester with chromosome anomalies. Screening by measurement of PAPP-A might detect 60% of cases of Down's syndrome in the first trimester with a false positive rate of 5%.

Adult↗
PubMed1997

Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22.

We report on a case of generalized mosaicism for trisomy 22. At chorionic villus sampling (CVS) in the 37th week of pregnancy, a 47,XX,+22 karyotype was detected in all cells. The indication for CVS was severe unexplained symmetrical intrauterine growth retardation (IUGR) and a ventricular septal defect (VSD) was noted. In cultured cells from amniotic fluid taken simultaneously, only two out of ten clones were trisomic. At term, a growth-retarded girl with mild dysmorphic features was born. Lymphocytes showed a normal 46,XX[50] karyotype; both chromosomes 22 were maternal in origin (maternal uniparental disomy). Investigation of the placenta post-delivery using fluorescence in situ hybridization showed a low presence of trisomy 22 cells in only one out of 14 biopsies. In cultured fibroblasts of skin tissue, a mosaic 47,XX,+22[7]/46,XX[25] was observed. Clinical follow-up is given up to 19 months.

Abnormalities, Multiple↗
PubMed2007

Nuchal translucency screening: how do women actually utilize the results?

OBJECTIVE: To examine how women use the nuchal translucency (NT) risk adjustment in decision-making for invasive prenatal diagnosis. STUDY DESIGN: Retrospective cohort study of 1083 consecutive NT screening exams. A screen-positive test was defined as a risk > or = 1/300. Primary outcome was what proportion of screen-positive or screen-negative women chose to undergo chorionic villus sampling or amniocentesis. RESULTS: Of the women tested, 79% (858/1083) were > or = 35-years-old and 88% (756/858) of these women had a decrease in age-related risk after NT. Of the screen-negative women, 31% (238/756) > or = 35 years of age chose to have invasive testing as compared to only 11.2% (25/223) of those < 35 years of age (p < 0.001). Of the screen-positive women, 71% (72/102) > or = 35 years of age and 100% (2/2) < 35 years of age chose to obtain invasive testing (p = 0.368). CONCLUSION: First-trimester NT screening for Down syndrome (DS) enables a significant number of women over age 35 to lower the risk for DS several fold and avoid the risks of invasive testing. However, despite significant reductions in age-specific mid-trimester DS risks, a relatively high proportion of women > or = 35 years of age still opted for invasive testing.

Adult↗
PubMed2002

Testing normality of fetal DNA concentration in maternal plasma at 10-12 completed weeks' gestation: a preliminary approach to a new marker for genetic screening.

OBJECTIVES: To test the distribution of fetal DNA in maternal plasma expressed as gen/eq in a population of normal pregnancies. METHODS: Peripheral blood samples were obtained from 63 women (85% > or =35 years of age at delivery) bearing a euploid male fetus. Each patient underwent chorionic villus sampling (CVS) for karyotype analysis and/or beta thalassemia screening. Ultrasound scanning was used to determine gestational age. At 10-12 weeks' gestation, a peripheral blood sample was collected followed by CVS. To detect the Y chromosome specific sequences (SRY) quantitative polymerase chain reaction (PCR) analysis was used. Normal distribution of the data was tested by means of the Kolmogorov-Smirnov (KS) test. A Symmetry test (reliability p>0.05) was used to evaluate the reliability of the median. RESULTS: Only after natural logarithmic transformation did the data display a normal distribution. The median value of fetal DNA was 23.3 gen/eq (range 2.08-195), interquartile range 18.57-45.4. A Pearson test showed a significant correlation between gestational age and fetal DNA concentration (r=0.25, p=0.045). CONCLUSION: The present finding is a preliminary step towards a possible integration of fetal DNA with other variables (biochemical and/or ultrasound). It may serve to improve the discrimination of the screening for genetic diseases in the first trimester. Because of the relatively high dispersion, adjustments for possible covariates would appear to be necessary in further studies.

Chorionic Villi Sampling↗
PubMed1990

Determinants of parental decisions to abort for chromosome abnormalities.

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the 'severe' or the 'questionable' group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p less than 0.0001). The association of ultrasound anomalies and termination was highly significant (p less than 0.001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.

Abortion, Therapeutic↗
PubMed1989

New therapeutic aspects in nonimmune hydrops fetalis based on four hundred and two prenatally diagnosed cases.

In 402 cases with prenatally diagnosed nonimmune hydrops fetalis, cardiovascular diseases were present in 18%, chromosomal disorders in 11%, and hematologic disorders of the fetus in 10%. In the last 3 years, fetal blood sampling has become a very important part of the differential diagnosis of nonimmune hydrops (chromosomal, hematologic and metabolic disorders, intrauterine infection). Also, transabdominal placental biopsy has been used for rapid karyotyping. A detailed fetal echocardiogram is absolutely necessary in all cases of nonimmune hydrops, in particular spectral and color Doppler flow mapping. Thus, congenital heart diseases can be accurately diagnosed. Further, in other causes of hydrops regurgitation of atrioventricular valves may be present in advanced stage. New important methods of intrauterine therapy are in particular: intravascular blood substitution in anemia, and the intravascular application of antiarrhythmic drugs in tachyarrhythmia. The overall survival rate was 19.4% (78 of 402); 4.0% (6 of 149) before 24 weeks of gestation, and 28.5% (72 of 253) after this age of gestation. The majority of survivors were in the tachyarrhythmia, hematologic disorder, isolated ascites and hydro-/chylothorax groups (53 of 78 survivors, 68%). In the other groups, the survival rate was generally low.

Anti-Arrhythmia Agents↗
PubMed1992

Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: efficiency, reliability, and risks on 317 completed pregnancies.

Transabdominal chorionic villus sampling (TA-CVS) was attempted in 328 high-risk pregnancies at 6-7 weeks of gestation. Sampling was feasible in 97.7 per cent of cases; chorionic tissue specimens of more than 10 mg were obtained in 94.4 per cent of cases at the first needle insertion and in 100 per cent after a second attempt. Fetal karyotyping succeeded in 99.4 per cent of cases, while no diagnostic failures were reported in enzymatic and DNA analyses. Fetal loss rate in the first 4 weeks after CVS was significantly higher than in the later CVS series (7.2 vs. 2.5 per cent), but 50 per cent of losses were observed within 2 weeks in cases of inviable aneuploidies. A high incidence of severe limb abnormalities (1.6 per cent) was detected in pregnancies intended to continue, confirming the aetiological role of early CVS. Unclear visualization of the placental limits and poor control of the needle path are thought to be the main reasons for the vascular disruption of the chorionic plate, and thereby hypoxic embryo tissue damage. A better selection of cases, together with high-resolution vaginal ultrasound visualization, and analytical techniques requiring a minimal amount of tissue should avoid any teratogenic effect of early CVS.

Adult↗
PubMed2005

Placental volume measured by three-dimensional ultrasound at 11 to 13 + 6 weeks of gestation: relation to chromosomal defects.

OBJECTIVE: To determine the potential value of measuring the placental volume at 11 to 13 + 6 weeks of gestation in screening for chromosomal defects. METHODS: The placental volume was measured using three-dimensional ultrasound in 500 consecutive singleton pregnancies immediately before chorionic villus sampling for fetal karyotyping at 11 to 13 + 6 (median, 12) weeks of gestation. RESULTS: The fetal karyotype was normal in 417 pregnancies and abnormal in 83. In the chromosomally normal group the mean placental volume increased significantly with gestation from a mean of 51 mL (5th and 95th centiles: 31.2 and 82.4 mL) at 11 weeks to 91 mL (5th and 95th centiles: 55.7 and 147.2 mL) at 13 + 6 weeks. In the chromosomally abnormal group the mean placental volume for gestational age was not significantly different from normal in trisomy 21 and Turner syndrome, but it was smaller in trisomies 13 and 18. CONCLUSIONS: The measurement of the placental volume at 11 to 13 + 6 weeks of gestation is unlikely to be a useful predictor of the major chromosomal defects. In trisomies 13 and 18 the small placental volume may be due to early-onset fetal growth restriction, which could be the consequence of impaired placental function.

Adult↗
PubMed2000

Adverse pregnancy outcome following post-chorionic villus sampling amniocentesis compared to chorionic villus sampling.

OBJECTIVE: To assess the adverse pregnancy outcome of post-chorionic villus sampling (CVS) amniocentesis and chorionic villus sampling. METHODS: Adverse pregnancy outcomes of 32 post-CVS amniocentesis cases and 264 CVS only cases were compared. The base-line characteristics were comparable in the 2 groups. RESULTS: One (3.1%) chromosomal abnormality was detected in the post-CVS amniocentesis group, compared to 5 (1.8%) in the CVS only group (p > 0.05). The fetal loss rate (spontaneous abortions and stillbirths) among continuing pregnancies was 3.2% in the post-CVS amniocentesis group and 3.5% in the CVS only group (p > 0.05). No statistically significant difference was found in the incidence of neonatal death, preterm delivery, fetal growth restriction, or congenital anomalies between the 2 groups. CONCLUSION: Adverse pregnancy outcome occurred at a similar frequency in the post-CVS amniocentesis group as in the CVS only group. Therefore, a subsequent amniocentesis after CVS can be considered as a safe procedure that does not introduce any additional adverse pregnancy outcome compared to that of CVS only.

Adult↗
PubMed2000

Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization: a one-year clinical experience with high-risk and urgent fetal and postnatal samples.

OBJECTIVES: To evaluate the clinical utility of rapid prenatal and postnatal detection of common chromosome aneuploidies by interphase fluorescence in situ hybridization (FISH) analysis with DNA probes. DESIGN: Four hundred and seventy-seven high-risk and/or urgent amniotic fluid, chorionic villus and fetal and postnatal blood samples were prospectively examined by FISH with probes specific for chromosomes 13, 18, 21, X, and Y and results were reported within 48 hours. All FISH results were followed by conventional chromosome analysis, if possible. SETTING: Cytogenetic service laboratory at the tertiary referral center, Rigshospitalet in Copenhagen. MAIN OUTCOME MEASURES: The fraction of clinically significant chromosome aneuploidies that was detected by FISH analysis, and the fraction of terminations that was based on FISH and ultrasound results rather than on conventional cytogenetic results. RESULTS: The FISH assay detected 76% of the clinically significant chromosome abnormalities as determined by subsequent cytogenetic analysis. Seventy-two percent of the terminations of the chromosomally abnormal pregnancies were based on FISH and ultrasound results rather than on conventional cytogenetic results. CONCLUSION: FISH analysis is a clinically useful adjunctive tool to conventional pre- and postnatal cytogenetic analysis. The assay rapidly detects the majority of clinically significant chromosome abnormalities, thus facilitating difficult pre- and postnatal clinical decisions.

Adult↗
PubMed1996

Immediate changes in umbilical blood flow after transcervical chorionic villus sampling performed by biopsy forceps.

Transvaginal ultrasonography with colour Doppler was used to evaluate the immediate changes on the fetal heart rate (FHR) and the fetal umbilical artery pulsatility index (PI) after chorionic villus sampling (CVS). This prospective study included 279 consecutive singleton pregnancies, between 10 and 13 weeks, of women who underwent transcervical CVS in our institution. All Doppler measurements were obtained transvaginally before and immediately after CVS. Structural malformations detected by ultrasound were excluded. Student's t- and Wilcoxon texts were performed for statistical analysis. The results showed no significant decrease in FHR (mean 1.04 beats, t = 1.68, P = 0.94) and a significant elevation of umbilical artery PI (mean 0.12, t = - 6.51, P < 0.001) post-CVS. This difference was only significant in procedures performed at less than 11 weeks' gestation, since there was no significant change for those procedures performed thereafter. These preliminary data suggest that acute fetal haemodynamic changes are induced by CVS and may have clinical effects. Hypotheses on possible vascular mechanisms are discussed. Colour Doppler could widen the possibilities for more accurate in vivo assessment and research on CVS-related placental injury.

Abortion, Spontaneous↗