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Kypros H Nicolaides

Publications and source records attributed to Kypros H Nicolaides.

At least 19 recordsLinked to original sources
PubMed2007

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection.

Current methods for prenatal diagnosis of chromosomal aneuploidies involve the invasive sampling of fetal materials using procedures such as amniocentesis or chorionic villus sampling and constitute a finite risk to the fetus. Here, we outline a strategy for fetal chromosome dosage assessment that can be performed noninvasively through analysis of placental expressed mRNA in maternal plasma. We achieved noninvasive prenatal diagnosis of fetal trisomy 21 by determining the ratio between alleles of a single-nucleotide polymorphism (SNP) in PLAC4 mRNA, which is transcribed from chromosome 21 and expressed by the placenta, in maternal plasma. PLAC4 mRNA in maternal plasma was fetal derived and cleared after delivery. The allelic ratios in maternal plasma correlated with those in the placenta. Fetal trisomy 21 was detected noninvasively in 90% of cases and excluded in 96.5% of controls.

Asian People↗
PubMed2007

Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities?

OBJECTIVES: Previous studies on the association of fetal cell-free (cf)DNA levels in maternal circulation have produced conflicting results but the sample sizes were small and based on archived material. We aimed to quantify the levels of fetal and total cfDNA on prospectively collected samples, to understand their correlation with other variables and to clarify their diagnostic value. METHODS: DNA from pre-CVS maternal plasma was extracted from 264 controls, 72 trisomy 21, 24 trisomy 18, 12 trisomy 13, 16 Turner's syndrome and 8 triploidy first-trimester pregnancies and quantified using real-time PCR. beta-globin was used to determine total cfDNA levels and DYS14 and SRY assays to determine fetal cfDNA levels. RESULTS: Fetal cfDNA levels (DYS14) showed correlation with crown rump length (CRL) (p = 0.004), BMI (p = 0.01) and storage time (p = 0.007) while there was an inverse correlation of total cfDNA levels with nuchal translucency (NT) (p = 0.001). No significant difference was observed between the levels of fetal cfDNA in controls and aneuploidy cases. CONCLUSION: Quantification of fetal and total cfDNA in maternal circulation showed inverse correlation between NT and total cfDNA levels. Our results also suggest that fetal cfDNA is not an ideal prognostic marker for chromosomal abnormalities in first-trimester pregnancies.

Biomarkers↗
PubMed2007

Ultrasound findings before amniocentesis in selecting the method of analysing the sample.

OBJECTIVE: To determine if the primary method of cytogenetic analysis in pregnant women undergoing amniocentesis should be quantitative fluorescent polymerase chain reaction (qf-PCR), with karyotyping being performed only on those with abnormal ultrasound findings. METHODS: Amniocentesis was performed in 3854 cases. The median maternal age was 36 years and median gestational age was 18 weeks. The indication for karyotyping was an increased risk for aneuploidy in the absence or presence of sonographic abnormalities detected at the scan before amniocentesis. All samples were analysed by qf-PCR and full karyotyping. For each detectable fetal defect, the positive or negative likelihood ratio for aneuploidy was determined. OUTCOME MEASURE: Detection rate of clinically significant chromosomal abnormalities. RESULTS: The karyotype was normal in 3617 (93.9%) cases. In 237 (6.1%) cases, the karyotype was abnormal and the detection rate by qf-PCR was 92.4%. A policy of performing qf-PCR in all cases and karyotyping in only those with combined likelihood ratios of > 1, > 3, and > 5 would detect 98.3, 96.6, and 95.4% of all chromosomal abnormalities and would require karyotyping in 16.1, 8.0, and 5.4% of the cases, respectively. CONCLUSIONS: More than 95% of the aneuploidies can be detected if karyotyping is performed in addition to qf-PCR in about 15% of the cases selected on the basis of ultrasound findings before amniocentesis.

Adolescent↗
PubMed2007

Maternal uterine artery Doppler flow velocimetry and the risk of stillbirth.

OBJECTIVE: We sought to relate the risk of antepartum stillbirth to uterine artery Doppler flow velocimetry at 22-24 weeks. METHODS: Data were available from 30,519 unselected women from seven units in the UK who had uterine artery Doppler performed between 22 and 24 weeks of gestation. The risk of stillbirth (n=109) was assessed using time to event and logistic regression analysis. Stillbirths were subdivided into placental (due to abruption, preeclampsia, or growth restriction) or unexplained. RESULTS: The risk of placental stillbirth was increased among women with a mean pulsatility index in the top decile (adjusted hazard ratio [HR] 5.5, 95% confidence interval [CI] 2.8-10.6) and those with a bilateral notch (adjusted HR 3.9, 95% CI 2.0-7.8). The relationship between a mean pulsatility index in the top decile and the risk of unexplained stillbirth was weaker (adjusted HR 2.5, 95% CI 1.1-5.6) and there was no association with a bilateral notch. Placental stillbirths occurred at earlier gestations than unexplained stillbirths (median [interquartile range] 30 [26-36] compared with 38 [36-40], P<.001). Consequently, being in the top 5% of predicted risk of stillbirth on the basis of the combination of mean pulsatility index and notching was a good predictor (sensitivity, specificity, and positive likelihood ratio) of all cause stillbirth up to 32 weeks (58%, 95%, and 12.1, respectively) but a poor predictor of stillbirth at later gestations (7%, 95%, and 1.3, respectively). CONCLUSION: Abnormal uterine artery Doppler was a better predictor of the risk of stillbirth due to placental causes than unexplained stillbirth. Consequently, abnormal uterine artery Doppler was a good predictor of stillbirth at extreme preterm gestations but a poor predictor of stillbirth at term. LEVEL OF EVIDENCE: II.

Adult↗
PubMed2006

Shirodkar versus McDonald cerclage for the prevention of preterm birth in women with short cervical length.

The efficacy of Shirodkar cerclage was compared with that of the McDonald procedure for the prevention of preterm birth (PTB) in women with a short cervix. Secondary analysis using data from all published randomized trials including women with a short cervical length (CL) was performed comparing the use of Shirodkar versus McDonald sutures. Analysis was limited to singletons with short CL on transvaginal ultrasound. The primary outcome measure was PTB < 33 weeks. Statistical analysis was performed using bivariate and multivariable techniques. From 607 women randomly assigned in the study, 277 met our inclusion criteria; 127 received Shirodkar and 150 women received McDonald sutures. The mean ( +/- standard deviation) gestational age at delivery was 35.0 +/- 5.3 versus 36.3 +/- 4.7 for the Shirodkar versus McDonald groups, respectively ( p< 0.02). PTB < 33 weeks was seen in 61 (22%) of 277 women; 26 (20%) of 127 in the Shirodkar and 35 (23%) of 150 in the McDonald groups, respectively (odds ratio [OR], 0.85; 95% confidence interval [CI], 0.5 to 1.6). On adjusting for confounders using logistic regression modeling, no significant difference in PTB < 33 weeks was found between the two groups (OR, 0.55; 95% CI, 0.2 to 1.3). In women with short cervical length randomly assigned to receiving cerclage, no significant difference in prevention of PTB was observed using Shirodkar or McDonald's procedures.

Adolescent↗
PubMed2006

Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis.

BACKGROUND: We recently demonstrated that the promoter of the RASSF1A gene is hypermethylated in the placenta and hypomethylated in maternal blood cells. This methylation pattern allows the use of methylation-sensitive restriction enzyme digestion for detecting the placental-derived hypermethylated RASSF1A sequences in maternal plasma. METHODS: We performed real-time PCR after methylation-sensitive restriction enzyme digestion to detect placental-derived RASSF1A sequences in the plasma of 28 1st-trimester and 43 3rd-trimester pregnant women. We used maternal plasma to perform prenatal fetal rhesus D (RhD) blood group typing for 54 early-gestation RhD-negative women, with hypermethylated RASSF1A as the positive control for fetal DNA detection. RESULTS: Hypermethylated RASSF1A sequences were detectable in the plasma of all 71 pregnant women. The genotype of plasma RASSF1A after enzyme digestion was identical to the fetal genotype in each case, thus confirming its fetal origin. Nineteen of the 54 pregnant women undergoing prenatal fetal RhD genotyping showed undetectable RHD sequences in their plasma DNA samples. The fetal DNA control, RASSF1A, was not detectable in 4 of the 19 women. Subsequent chorionic villus sample analysis revealed that 2 of these 4 women with negative RHD and RASSF1A signals were in fact carrying RhD-positive fetuses. CONCLUSIONS: Hypermethylated RASSF1A is a universal marker for fetal DNA and is readily detectable in maternal plasma. When applied to prenatal RhD genotyping, this marker allows the detection of false-negative results caused by low fetal DNA concentrations in maternal plasma. This new marker can also be applied to many other prenatal diagnostic and monitoring scenarios.

Actins↗
PubMed2006

Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: Theoretical and empirical considerations.

BACKGROUND: The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not been reported. We postulate that the aneuploidy status of a fetus could be revealed by an epigenetic allelic ratio approach, i.e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma. METHODS: Placental-derived fetal-specific unmethylated maspin (SERPINB5) promoter sequences on human chromosome 18 were detectable in placental-maternal DNA mixtures and in maternal plasma by bisulfite modification followed by methylation-specific PCR (MSP) and primer extension. The ratios between the extension products of the 2 alleles were calculated for heterozygous placentas, placental-maternal blood cell DNA mixtures, and maternal plasma samples. The allelic ratios were compared between pregnancies carrying trisomy 18 and euploid fetuses. RESULTS: The epigenetic allelic ratios of all tested trisomy 18 samples deviated from the reference range obtained from euploid samples (placental DNA, 1.135 to 2.052; placental-maternal DNA mixtures, 1.170 to 1.985; maternal plasma, 0.330 to 3.044; without skew correction on the raw mass spectrometric data). A theoretical model was established and validated that predicted that a minimum of 200 copies of genomic DNA after bisulfite conversion were required for distinguishing euploid and aneuploid fetuses with confidence. CONCLUSION: Epigenetic allelic ratio analysis of maternal plasma DNA represents a promising approach for noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.

Chromosomes, Human, Pair 18↗
PubMed2006

Prediction of severe fetal anemia in red blood cell alloimmunization after previous intrauterine transfusions.

OBJECTIVE: This study was undertaken to determine the detection of fetal anemia and false-positive rates by fetal middle cerebral artery peak systolic velocity (MCA-PSV) and the estimated daily decrease of hemoglobin (Hb) in red blood cell alloimmunized pregnancies that had previous fetal transfusions. STUDY DESIGN: We examined the relation between MCA-PSV measured before cordocentesis, and fetal Hb at the time of the second (n = 42) and third (n = 31) intrauterine blood transfusions. In addition, the daily Hb drop between the transfusions was calculated. RESULTS: The MCA-PSV provided significant prediction of severe anemia (Hb deficit > or = 6 g/dL) for the second but not for the third transfusion. Detection of 95% of severely anemic fetuses was achieved with a false-positive rate of 37% for the second transfusion and 90% for the third, compared with 14% in our previous study for the first transfusion. In patients who had received 2 previous transfusions, the only significant predictor of fetal anemia was the estimation of the Hb from the measured posttransfusion Hb after the second transfusion and the assumption that the rate of decrease in fetal Hb is 0.3 g/dL per day. CONCLUSION: Prediction of severe fetal anemia after one transfusion is less accurate than in nontransfused fetuses. The MCA-PSV is not useful in predicting severe anemia in fetuses that already had 2 previous transfusions.

Anemia↗
PubMed2006

Fetal lung-to-head ratio in the prediction of survival in severe left-sided diaphragmatic hernia treated by fetal endoscopic tracheal occlusion (FETO).

OBJECTIVE: The objective of the study was to investigate the value of fetal lung area to head circumference ratio in the prediction of the postnatal outcome in left-sided congenital diaphragmatic hernia treated by fetoscopic endoluminal tracheal occlusion. STUDY DESIGN: The lung area to head circumference ratio was measured before fetoscopic endoluminal tracheal occlusion in 28 fetuses with congenital diaphragmatic hernia at 25 to 29 weeks. Regression analysis was used to investigate the effect on survival of lung area to head circumference ratio, gestation at fetoscopic endoluminal tracheal occlusion, gestation at delivery, preterm amniorrhexis following fetoscopic endoluminal tracheal occlusion, and prenatal removal of the balloon. RESULTS: The median lung area to head circumference ratio prior to fetoscopic endoluminal tracheal occlusion was 0.7 (range 0.5 to 0.9). The median gestation at delivery was 34 (range 27 to 39) weeks, and there were 16 survivors (57%). Only lung area to head circumference ratio provided significant prediction of survival, which increased from 17% for lung area to head circumference ratio of 0.4 to 0.5 to 62% for lung area to head circumference ratio of 0.6 to 0.7 and 78% for lung area to head circumference ratio of 0.8 to 0.9. CONCLUSION: In congenital diaphragmatic hernia treated by fetoscopic endoluminal tracheal occlusion, postnatal survival can be predicted by the lung area to head circumference ratio measured prior to the procedure.

Balloon Occlusion↗
PubMed2006

Maternal serum concentration of soluble fms-like tyrosine kinase 1 and vascular endothelial growth factor in women with abnormal uterine artery Doppler and in those with fetal growth restriction.

OBJECTIVE: This study was undertaken to determine whether maternal serum concentration of the angiogenic factor vascular endothelial growth factor (VEGF) and its circulating antagonist, soluble fms-like tyrosine kinase 1 (sFlt-1), which have been implicated in the pathogenesis of preeclampsia (PE), are altered in pregnancies that subsequently develop PE and in those with established fetal growth restriction (FGR). STUDY DESIGN: Three groups of healthy pregnant women at 23 to 25 weeks of gestation were examined: group A (n = 42) with normal uterine artery Doppler waveforms, group B (n = 49) with abnormal uterine artery Doppler waveforms, and group C (n = 15) with abnormal Doppler results and established FGR. Comparisons between multiple groups were performed by using 1-way analysis of variance or Kruskal-Wallis test. RESULTS: In group C, compared with group A, the median sFlt-1 was significantly higher (P < .0001) and VEGF was lower (P < .001). Group C included 3 women who had PE develop. In group B, 19 women had a normal outcome, 13 had PE develop, and 17 had FGR develop. There were no significant differences in sFlt-1 levels between any of the subgroups of group B and group A. CONCLUSION: Maternal serum concentration of sFlt-1 in pregnancies with FGR is increased but this increase is not evident in pregnancies with impaired placentation that subsequently had either FGR or PE develop.

Adult↗
PubMed2006

Maternal characteristics and cervical length in the prediction of spontaneous early preterm delivery in twins.

OBJECTIVE: The purpose of this study was to examine the value of combining maternal characteristics and measurement of cervical length at 22 to 24 weeks in the prediction of spontaneous early preterm delivery. STUDY DESIGN: Cervical length was measured by transvaginal sonography at 22 to 24 weeks in 1163 twin pregnancies attending for routine antenatal care. Logistic regression analysis was used to examine the effect of maternal demographic characteristics and cervical length on the risk of spontaneous early preterm delivery. RESULTS: The rate of spontaneous delivery before 32 weeks was 6.5%. The rate of early delivery was inversely related to cervical length, and for a false-positive rate of 10%, the detection rate of early delivery was 65.3%. The respective detection rate for maternal characteristics and obstetric history was 26.4%. Logistic regression analysis demonstrated that the only significant independent predictor of spontaneous early delivery was cervical length. CONCLUSION: In twins, the prediction of spontaneous early preterm delivery by measurement of cervical length at 22 to 24 weeks is not improved by maternal characteristics.

Adolescent↗
PubMed2006

Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) and development of pre-eclampsia: a case-control study and a meta-analysis.

BACKGROUND: Pre-eclampsia is thought to have an important genetic component. Recently, pre-eclampsia has been associated in some studies with carriage of a common eNOS gene Glu298Asp polymorphism, a variant that leads to the replacement of glutamic acid by aspartic acid at codon 298. METHOD: Healthy women with singleton pregnancies were recruited from 7 district general hospitals in London, UK. Women at high risk of pre-eclampsia were screened by uterine artery Doppler velocimetry at 22-24 weeks of gestation and maternal blood was obtained to genotype the eNOS Glu298Asp polymorphism. Odds ratios (OR) and 95%CI, using logistic regression methods, were obtained to evaluate the association between the Glu298Asp polymorphism and pre-eclampsia. A meta-analysis was then undertaken of all published studies up to November 2005 examining the association of eNOS Glu298Asp genotype and pre-eclampsia. RESULTS: 89 women with pre-eclampsia and 349 controls were included in the new study. The Glu298Asp polymorphism in a recessive model was not significantly associated with pre-eclampsia (adjusted-OR: 0.83 [95%CI: 0.30-2.25]; p = 0.7). In the meta-analysis, under a recessive genetic model (1129 cases & 2384 controls) women homozygous for the Asp298 allele were not at significantly increased risk of pre-eclampsia (OR: 1.28 [95%CI: 0.76-2.16]; p = 0.34). A dominant model (1334 cases & 2894 controls) was associated with no increase of risk of pre-eclampsia for women carriers of the Asp298 allele (OR: 1.12 [95%CI: 0.84-1.49]; p = 0.42). CONCLUSION: From the data currently available, the eNOS Glu298Asp polymorphism is not associated with a significant increased risk of pre-eclampsia. However, published studies have been underpowered, much larger studies are needed to confirm or refute a realistic genotypic risk of disease, but which might contribute to many cases of pre-eclampsia in the population.

Journal Article↗
PubMed2006

Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study.

OBJECTIVE: To investigate an approach for the analysis of samples obtained in screening for trisomy 21 that retains the advantages of quantitative fluorescent polymerase chain reaction (qf-PCR) over full karyotyping and maximises the detection of clinically significant abnormalities. DESIGN: Observational study. SETTING: Tertiary referral centre. SUBJECTS: 17,446 pregnancies, from which chorionic villous samples had been taken after assessment of risk for trisomy 21 by measurement of fetal nuchal translucency (NT) thickness at 11 to 13(+6) weeks of gestation. INTERVENTIONS: Analysis of chorionic villous samples by full karyotyping and by qf-PCR for chromosomes 13, 18, 21, X, and Y. MAIN OUTCOME MEASURE: Detection of clinically significant chromosomal abnormalities. RESULTS: The fetal karyotype was normal in 15,548 (89.1%) cases and abnormal in 1898 (10.9%) cases, including 1722 with a likely clinically significant adverse outcome. Karyotyping all cases would lead to the diagnosis of all clinically significant abnormalities, and a policy of relying entirely on qf-PCR would lead to the diagnosis of 97.9% of abnormalities. An alternative strategy whereby qf-PCR is the main method of analysis and full karyotyping is reserved for those cases with a minimum fetal NT thickness of 4 mm would require full karyotyping in 10.1% of the cases, would identify 99.0% of the significant abnormalities, and would cost 60% less than full karyotyping for all. CONCLUSIONS: In the diagnosis of chromosomal abnormalities after first trimester screening for trisomy 21, a policy of qf-PCR for all samples and karyotyping only if the fetal NT thickness is increased would reduce the economic costs, provide rapid delivery of results, and identify 99% of the clinically significant chromosomal abnormalities.

Adolescent↗
PubMed2006

ADAM12-s in coelomic fluid and maternal serum in early pregnancy.

OBJECTIVES: ADAM12-s is a placental protein. In early pregnancy, reduced maternal levels of ADAM12-s have been reported in association with foetal trisomy 21 or 18 and in cases that subsequently develop pre-eclampsia and foetal growth restriction. The aim of this study is to investigate the distribution of ADAM12-s in early pregnancy by comparing its concentration in maternal serum, amniotic fluid and coelomic fluid. METHODS: Coelomic fluid was obtained by coelocentesis from 13 singleton pregnancies with live foetuses at 6.9-9.3 weeks of gestation. Maternal serum was also obtained in all cases and in six cases amniotic fluid was also obtained. The concentration of ADAM12-s was measured by dissociation enhanced lanthanide fluoro-immunoassay. RESULTS: The median concentration of ADAM12-s in maternal serum was 132.7 (range 33.8-254.5) ng/mL and in coelomic fluid it was 10.5 (range 1.3-15.8) ng/mL; there were no detectable levels in five of the six amniotic fluid samples. The concentration of maternal serum ADAM12-s increased significantly with gestation (r = 0.862, p < 0.0001). There was no significant association between coelomic fluid ADAM12-s and either gestation (r = 0.255, p = 0.401) or maternal serum ADAM12-s (r = 0.302, p = 0.316). CONCLUSION: The distribution of ADAM12-s in maternal serum and the early embryonic fluid compartments is consistent with its syncytiotrophoblastic origin.

ADAM Proteins↗
PubMed2006

Sonographic screening for trisomy 13 at 11 to 13(+6) weeks of gestation.

OBJECTIVE: The purpose of this study was to examine the sonographic features of trisomy 13 at 11 to 13(+6) weeks of gestation. STUDY DESIGN: This was a retrospective study that examined the features of trisomy 13 at the ultrasound scan at 11 to 13(+6) weeks of gestation, which in our center is performed for the measurement of crown-rump length, nuchal translucency thickness, and fetal heart rate and the examination for major defects. RESULTS: In the 181 fetuses with trisomy 13, there were holoprosencephaly, exomphalos, and/or megacystis in 92 fetuses (50.2%), fetal heart rate above the 95th percentile in 129 fetuses (71.3%), and nuchal translucency above the 95th percentile in 141 fetuses (77.9%). There was no significant association between nuchal translucency and fetal heart rate, and it was estimated that inclusion of fetal heart rate in nuchal translucency screening can improve the detection rate of trisomy 13 by approximately 5%. CONCLUSION: At the 11 to 13(+6)-week scan, the measurement of fetal nuchal translucency and fetal heart rate and fetal examination for holoprosencephaly, exomphalos, and megacystis can identify >90% of fetuses with trisomy 13.

Adult↗
PubMed2006

Nasal bone in first-trimester screening for trisomy 21.

OBJECTIVE: This study was undertaken to investigate the impact of incorporating assessment of the nasal bone into first-trimester combined screening by fetal nuchal translucency (NT) thickness and maternal serum biochemistry. STUDY DESIGN: In this prospective combined screening study for trisomy 21, the fetal nasal bone was also examined and classified as present or absent. A multivariate approach was used to calculate patient-specific risks for trisomy 21 and the detection rate (DR) and false-positive rate (FPR) were estimated. We examined 2 screening strategies; first, integrated first-trimester screening in all patients and second, first-stage screening of all patients using fetal NT and maternal serum free beta-hCG and PAPP-A, followed by second-stage assessment of nasal bone only in those with an intermediate risk of 1 in 101 to 1 in 1000 after the first-stage. RESULTS: The nasal bone was absent in 113 (0.6%) of the 20,165 chromosomally or phenotypically normal fetuses and in 87 (62.1%) of the 140 fetuses with trisomy 21. With combined first-trimester NT and serum screening, the DR of 90% was achieved at a FPR of 5%. Inclusion of the nasal bone, either in all cases or in about 10% of the total in the 2-stage approach, halved the FPR to 2.5%. CONCLUSION: Inclusion of the nasal bone in first-trimester combined screening for trisomy 21 achieves a DR of 90% for a FPR of 2.5%.

Chorionic Gonadotropin, beta Subunit, Human↗
PubMed2006

Aneuploidy screening in a coelomic sample from a missed abortion using sequential fluorescence in situ hybridization.

OBJECTIVE: To investigate the incidence of aneuploidy by using sequential interphase fluorescence in situ hybridization (FISH) in an uncultured coelomic fluid sample from a missed abortion. DESIGN: Case report. SETTING: Fetal medicine and gynecology departments of two university hospitals. PATIENT(S): A 33-year-old woman with a missed abortion. INTERVENTION(S): Molecular cytogenetic analysis was performed on coelomic fluid cells and placental tissue by applying a multicolor probe for chromosomes 13, 16, 18, 21, and 22 in a first layer of hybridization, followed by a triple-color probe for chromosomes X, Y, and 18. MAIN OUTCOME MEASURE(S): Analysis of limited number of coelomic cells by using sequential FISH. RESULT(S): The results showed trisomy 13 in 92% of nuclei. Diploid cells were observed at low levels (4%), but these were caused by maternal cell contamination, as revealed after reprobing with the X,Y,18 triple-color probe set. The result also was confirmed in the placental tissue. CONCLUSION(S): We conclude that sequential FISH analysis can overcome problems associated with limited cell numbers, accurately detect aneuploidy, and distinguish between maternal cell contamination and genuine mosaicism in coelomic cells and placental tissue from missed abortions. It also has the potential to be applied for rapid aneuploidy screening in clinical cases after coelocentesis and to be used for follow-up analysis of pregnancies established after preimplantation genetic screening.

Abortion, Missed↗