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George Makrydimas

Publications and source records attributed to George Makrydimas.

16 recordsLinked to original sources
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

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↗
PubMed2005

Aneuploidy screening in coelomic samples using fluorescence in situ hybridisation (FISH).

OBJECTIVES: Coelocentesis is the earliest invasive prenatal diagnostic procedure that has recently been used in ongoing pregnancies to identify single gene defects. Aneuploidy screening has not yet been performed in ongoing pregnancies following coelocentesis, but experimental studies have demonstrated the ability of determining the copy number of chromosomes 13, 18, 21, X and Y in uncultured coelomic samples, by FISH or PCR. The aim of this study was to extend previous studies and investigate the feasibility of analysing uncultured coelomic fluid samples for 11 chromosomes using fluorescence in situ hybridisation (FISH). METHODS: Coelocentesis was performed in 12 singleton pregnancies at 6 to 9 weeks of gestation immediately before surgical termination of pregnancy. Fluorescence probes for chromosomes 3,7,9,13,16,17,18,21,22, X and Y were applied on uncultured coelomic-fluid samples and placental tissue. In cases where coelomic cells were not of a sufficient amount, chromosomes X and Y were analysed in a second layer of hybridisation. RESULTS: Successful analysis by FISH was possible in all cases and the results from the coelomic fluid were concordant with those from the analysis of placental tissue and obtained within a few hours of receiving the samples. Problems associated with limited cell numbers were overcome by the application of a second layer of FISH. This sequential approach has also enabled accurate identification of maternal-cell contamination in male samples. CONCLUSION: Analysis of 11 chromosomes using FISH in coelomic fluid samples is feasible and it has the potential to be applied for rapid aneuploidy screening, should coelocentesis be used clinically as an early, invasive prenatal diagnostic tool.

Aneuploidy↗
PubMed2005

Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers.

OBJECTIVE: Increased fetal nuchal translucency is associated with increased risk for congenital heart defects. In the present study, we aimed to investigate whether fetal nuchal translucency distribution differs among different types of congenital heart defects and whether it can lead to an earlier diagnosis. STUDY DESIGN: Four fetal echocardiography units provided data on fetuses with a congenital heart defect diagnosis in whom nuchal translucency thickness had been measured in the first trimester. Nuchal translucency data were compared per chromosomal status and type of congenital heart defect. Data on gestational age at diagnosis were also analyzed. RESULTS: Six hundred thirty-seven cases of congenital heart defect with known karyotype and exact nuchal translucency measurements were analyzed. Nuchal translucency was > or =3.5 mm in 22.9% of chromosomally normal fetuses (n = 397) and 58.8% of chromosomally abnormal cases (n = 240). Among fetuses with normal karyotype, the proportion of cases of congenital heart defect with increased nuchal translucency was similar in each of the subtypes of congenital heart defect (P = .96). Mean gestational age at diagnosis of congenital heart defect in fetuses with normal karyotype was 22.1 weeks with nuchal translucency of <3.5 mm and 16.1 weeks with nuchal translucency of > or =3.5 mm. CONCLUSION: Finding nuchal translucency of > or =3.5 mm may lead to an earlier diagnosis of all major types of congenital heart defects.

Echocardiography↗
PubMed2005

Expectant, medical, or surgical management of first-trimester miscarriage: a meta-analysis.

OBJECTIVE: To quantify the relative benefits and harms of different management options for first-trimester miscarriage. DATA SOURCES: MEDLINE, EMBASE, and Cochrane Controlled Trials Register searches (1966 to July 2004), including references of retrieved articles. METHODS OF STUDY SELECTION: Randomized trials assigning women with first-trimester missed or incomplete miscarriage to surgical, medical, or expectant management were included. Primary outcomes were successful treatment and patient satisfaction. Secondary outcomes included moderate or severe bleeding, blood transfusion, emergency curettage, pelvic inflammatory disease, nausea, vomiting, and diarrhea. Comparisons used the risk difference. Between-study heterogeneity and random effects summary estimates were calculated. TABULATION, INTEGRATION, AND RESULTS: Complete evacuation of the uterus was significantly more common with surgical than medical management (risk difference 32.8%, number needed to treat 3, success rate of medical management 62%) and with medical than expectant management (risk difference 49.7%, number needed to treat 2). Success rate with expectant management was spuriously low (39%) in the latter comparison. Analysis of cases with incomplete miscarriage only showed that medical management still had two thirds the chance to induce complete evacuation compared with surgical management, but it was better than expectant management. Data from studies that evaluated outcome at 48 hours or more after allocation indicated again that medical management had a better success rate than expectant management but a worse success rate than surgical management; expectant management probably had much lower success rates than surgical evacuation, but data were very sparse. Patient satisfaction data were sparse. Moderate or severe bleeding was less common with medical than expectant management (risk difference 3.2%) and possibly surgical management (risk difference 2.1%). There was a considerable amount of missing information, in particular for secondary outcomes. CONCLUSION: One additional success can be achieved among 3 women treated surgically rather than medically. Expectant management has had remarkably variable success rates across these studies, depending probably on the type of miscarriage. Greater standardization of outcomes should be a goal of future research.

Abortifacient Agents, Nonsteroidal↗
PubMed2005

Reproductive outcome after strassman metroplasty in women with a bicornuate uterus.

OBJECTIVE: To describe the reproductive outcome in 22 women with a bicornuate uterus who underwent Strassman metroplasty. STUDY DESIGN: The study analyzed pregnancy outcomes. RESULTS: Of women who had undergone Strassman metroplasty, 88% achieved pregnancies that ended with the birth of a viable infant. A total of 19 infants were born. All pregnancies that ended at term had normal courses, and a cesarean section was performed in all cases. The "take-home-baby" rate was 100% for the first postoperative pregnancy. CONCLUSION: The postmetroplasty reproductive capacity of women with a bicornuate uterus was very good. Strassman metroplasty should be reserved for selected women with bicornuate uteri who have experienced recurrent spontaneous abortion or preterm birth.

Abortion, Spontaneous↗
PubMed2004

The role of HPV DNA testing in the follow-up period after treatment for CIN: a systematic review of the literature.

BACKGROUND: There is an emerging interest concerning the role HPV DNA testing in the follow-up period after conservative treatment for cervical intraepithelial neoplasia. METHODS: A MEDLINE and EMBASE search was done (1985 to March 2002), using the keywords HPV/HPV DNA, together with CIN, follow-up, recurrence and LLETZ. References of retrieved articles were also screened. Selection criteria were original published English-language reports of prospective or retrospective studies, including women with an initial diagnosis of cervical intraepithelial neoplasia, who received conservative surgical treatment and were followed with HPV DNA testing in addition to cytology, colposcopy and/or biopsy); the latter methods were used for verification of residual or recurrent disease. RESULTS: There is a marked heterogeneity in the design, population, intervention and follow-up policy across different studies. The sensitivity of HPV DNA testing in detecting treatment failures was quite good in most studies, reaching 100% in four of them, whereas the specificity of the test differed across the studies, ranging from 44% to 95%. Among women in whom the treatment was considered to be successful, 84.2% had a negative postoperative HPV DNA test and 15.8% a positive one. The corresponding rates for cases with treatment failures were 17.2% and 82.8%, respectively. CONCLUSIONS: It seems that a positive HPV test, even in the presence of normal cytology, may pick up early and accurately a treatment failure. Cytology and colposcopy may still be needed in order to rule out false positive and false negative results. MINI-ABSTRACT: A systematic review of studies concerning HPV DNA testing in the follow-up period after conservative treatment for cervical intraepithelial neoplasia indicates that a positive HPV test, even in the presence of normal cytology, may pick up early and accurately a treatment failure. Cytology and colposcopy may still be needed in order to rule out false positive and false negative results.

DNA, Viral↗
PubMed2004

Conservative surgical methods for FIGO stage IA2 squamous cervical carcinoma and their role in preserving women's fertility.

OBJECTIVE: Until recently, the treatment of choice for stage IA2 squamous cervical cancer has been radical hysterectomy with pelvic node dissection. However, many of these cases occur in younger women, for whom the preservation of fertility is desirable. More conservative methods have emerged as alternative treatment modalities for these women, as they may allow for future fertility, without having a considerable adverse effect on cure rates. The objective of this review is to present the published data on these methods (radical vaginal, abdominal or laparoscopic trachelectomy and laparoscopic pelvic lymphadenectomy, deep cold-knife excision and lymphadenectomy, ovarian transposition and radiotherapy) and comment on their clinical role. METHOD: A detailed literature search was done in MEDLINE (1966-2003), EMBASE (1974-2003) and CINAHL (1982-2003) for data on cure rates, survival and reproductive outcome of radical vaginal trachelectomy as well as other conservative treatment options. RESULTS: The recurrence rates after radical trachelectomy range from 0% to 8% and are comparable to reported results from series of patients treated with radical hysterectomy. There are over 35 reported live births out of approximately 210 women who had this operation. However, the rates of second trimester losses and preterm deliveries due to cervical weakness are high. Data from the other methods are limited. CONCLUSION: Vaginal radical trachelectomy is currently the fertility-sparing procedure with the most available data supporting its use. Although these results are encouraging, there is lack of level I evidence (i.e. randomized controlled trials) comparing safety and survival rates between conservative and radical methods. Therefore, these techniques should be used by fully trained operators, with the understanding that this is not the standard treatment at present.

Carcinoma, Squamous Cell↗
PubMed2003

Interaction between the polymorphisms of the renin-angiotensin system in preeclampsia.

Preeclampsia is considered to be a multifactorial and multisystemic disorder with a genetic predisposition. Alterations in the renin-angiotensin system are considered to play a significant role in the pathogenesis of the disease. In order to investigate the possible association of the three most common polymorphisms of the renin-angiotensin system genes with preeclampsia we have examined 41 women with preeclampsia and 102 normotensive pregnant women. DNA samples were genotyped for the M235T polymorphism of the angiotensinogen gene (AGT), the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene (ACE) and the A1166C polymorphism of the angiotensin II type 1 receptor gene (AT1R) by PCR. Allele and genotype frequencies of the AGT gene polymorphism differed between the two study groups. The TT genotype of the M235T polymorphism was significantly increased in women who developed preeclampsia (P<0.02). In addition, women with preeclampsia and TT genotype had more frequently the DD genotype or the 1166C allele than the control group showing a significant interaction between the genes. In conclusion, we found an association between the angiotensinogen variant 235T and preeclampsia as well as an interaction between the variant 235T and the two other genes studied.

Alleles↗
PubMed2003

Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis.

OBJECTIVE: To synthesize the accumulated data on the diagnostic performance of intracardiac echogenic foci for Down syndrome, a meta-analysis was performed. DATA SOURCES: We conducted MEDLINE and EMBASE searches (1985 to August 2002) using the key words "intracardiac (echogenic) focus/foci," "golfballs," "trisomy 21," and "Down syndrome." Bibliographies of retrieved articles were also screened, and experts were contacted. Both single and multiple intracardiac echogenic foci qualified, regardless of cardiac location. Eligible studies included and described both chromosomally normal and abnormal fetuses; the fetal karyotype was unknown at the time of sonographic examination; and chromosomal status was confirmed by karyotype or postnatal clinical examination. TABULATION, INTEGRATION AND RESULTS: Sensitivity and specificity were recorded for intracardiac echogenic foci in a "combined" setting (regardless of the presence of other sonographic markers) and "isolated" setting (in the absence of other markers). Weighted estimates and summary receiver operating characteristic curves were calculated. Across 11 studies (51,831 pregnancies, 333 Down syndrome cases), random effects sensitivity and specificity were 26% (95% confidence interval 19, 34) and 95.8% (95% confidence interval 92.2, 97.8), respectively, with a positive likelihood ratio of 6.2 ("combined" setting, likelihood ratio 7.0; "isolated" setting, likelihood ratio 5.4). Summary receiver operating characteristic curves were also consistent with these values. With a 0.8% risk of amniocentesis-induced fetal loss, one fetus is lost per Down case detected when the background Down risk is 1:770. CONCLUSION: Intracardiac echogenic foci increase the risk of Down syndrome five- to seven-fold. This information should be considered in the decision making for amniocentesis in conjunction with the woman's background risk.

Down Syndrome↗
PubMed2003

Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis.

OBJECTIVE: The purpose of this study was to evaluate the screening performance of increased first-trimester nuchal translucency for the detection of major congenital heart defects. STUDY DESIGN: A meta-analysis based on MEDLINE and EMBASE searches (up to June 2002) that assessed the diagnostic performance of increased nuchal translucency for congenital heart defect detection. Weighted sensitivity and specificity estimates (random effects) and summary receiver-operating characteristic curves were obtained. RESULTS: Eight independent studies with 58,492 pregnant women were analyzed. There was significant heterogeneity among the studies. Nuchal translucency above the 99th percentile had a sensitivity of 31% and specificity of 98.7% (random effects calculations), with a positive likelihood ratio of 24. Summary receiver-operating characteristic estimates were consistent with these values. The ability of nuchal translucency measurements above this threshold to detect cardiac malformations varied nonsignificantly (P=.64) for different congenital heart defects types (sensitivity range, 25%-55%). CONCLUSION: Nuchal translucency screening is a modestly efficient strategy for congenital heart defect detection; the use of the 99th percentile threshold may capture approximately 30% of congenital heart defects.

Female↗
PubMedDate not supplied

Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. A case report.

Trisomy 18 is the second most common multisystem malformation syndrome. We present here a case of a fetus with trisomy 18, in which upper limb reduction was detected prenatally, as an isolated defect, at 17 weeks of gestation. The pregnancy was terminated by vaginal administration of misoprostol, and postmortem examination confirmed the ultrasound findings, including bilateral upper limb reduction with radial aplasia, absent first metacarpal and thumb and ventrally hyperflexed hands. This case demonstrates the need for thorough ultrasound evaluation of the fetal hands, as early as possible, because upper limb deformities can be the only abnormality of trisomy 18.

Adult↗
PubMedDate not supplied

Prenatal paternity testing using DNA extracted from coelomic cells.

OBJECTIVE: Prenatal paternity testing can be performed following invasive prenatal diagnosis with amniocentesis or CVS. Coelocentesis is a new technique that could be used as an alternative method early in the first trimester of pregnancy. The aim of this study is to investigate the potential use of the DNA extracted from coelomic cells in the prenatal paternity testing. METHODS: Coelocentesis was performed in 20 singleton pregnancies at 7-9 weeks of gestation immediately before surgical termination of pregnancy. Chorionic cells from the placenta and blood cells from the parents were processed by the standard salt extraction method. Two loci, TPO and Apo B, were used for paternity testing in the DNA of coelomic cells, chorionic cells and blood cells. RESULTS: There was concordance in the results obtained from the coelomic cells and chorionic villi. In two cases only the polymorphisms used were not conclusively informative for paternity exclusion. CONCLUSIONS: Coelomic cells are potentially useful for early paternity testing.

Apolipoproteins B↗
PubMedDate not supplied

Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy.

Prenatal sonographic diagnosis of fetal akinesia deformation sequence (FADS) is usually achieved during the second and third trimester of pregnancy and relies on the demonstration of contractures of multiple joints, paucity of fetal movements and nuchal edema or generalized hydrops. We present the early diagnosis of FADS in a 13-week fetus presenting with nuchal translucency thickness (NT) of 5.1 mm, bilateral talipes and fixed flexion deformity of the fingers and wrists. We also review cases of this condition diagnosed during the first trimester and discuss the role of increased NT in the early diagnosis of FADS even in cases without previous history of an affected child.

Adult↗