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Biomedical subjects

Gábor Mezei

Publications and source records attributed to Gábor Mezei.

8 recordsLinked to original sources

[The role of ultrasonography in second trimester screening for fetal chromosome aberrations].

UNLABELLED: The role of ultrasound examination in second trimester screening for fetal aneuploidies. OBJECTIVE: Authors sought to determine the frequency of ultrasound findings in major chromosomal defects. They also tried to evaluate possible patterns of ultrasound signs of fetal chromosomal defects. METHODS: Through the time period of 15 years (1999-2004) 22,150 fetal karyotypings were done, and 514 abnormal karyotypes (2.3%, 514/22,150) were diagnosed prenatally. Congenital anomalies of these fetuses, detected by second trimester sonography, were analyzed in this study. RESULTS: Of the 514 chromosome aberrations, 207 fetuses with trisomy 21 (40.3%), 70 fetuses with trisomy 18 (13.6%), 28 fetuses with trisomy 13 (5.4%), 69 fetuses with Turner syndrome (13.4%) and 12 fetuses with triploidy (2.3%) were detected. The incidences of major structural defects and minor anomalies were evaluated then ultrasound signs with the highest incidences were established in each of the major chromosomal defects. CONCLUSION: This study may help to select the "optimal components" of the genetic sonogram that would assist the counseling of women for the risk of a chromosomal abnormality. Other advantages of such approach could be the standardization of the contents of ultrasound examination among different health care providers and institutions, and a decrease in false-positive rates.

Adult↗

Reproductive performance after transabdominal metroplasty: a review of 157 consecutive cases.

OBJECTIVE: To evaluate the impact of conventional transabdominal metroplasty on the reproductive outcome of symmetric uterine anomalies and to determine the complications of this procedure. STUDY DESIGN: A retrospective clinical analysis of 157 consecutive women who underwent surgery during a 25-year period. One hundred fifty-seven patients with a subseptate, septate or bicornuate uterus and history of recurrent abortions (124 cases) or infertility (33 cases) were included in this study. Operative technique was similar to the procedure first described by Bret and Guillet and by Tompkins. RESULTS: The fetal survival rate increased from 0.0% before surgery to 81.9% postoperatively in the recurrent abortion group and to 92.8% in the infertility group. Among women having undergone surgery, 63.8% gave birth to at least 1 healthy child, the proportion of previous habitually miscarrying and infertile women was 70.2% and 32.0%, respectively. No uterine rupture or any other complication was observed. CONCLUSION: Conventional transabdominal metroplasty seems to be a safe procedure in women with symmetric uterine anomalies and a history of recurrent miscarriages or otherwise unexplained primary infertility. No perioperative or subsequent peripartum complications were observed. Even in the era of operative hysteroscopy, transabdominal metroplasty remains the only approach in cases of bicornuate uterus.

Abortion, Habitual↗

[Abdominal partial resection of the vagina and colpopexy: experiences with the procedure for posthysterectomy vault prolapse in 74 cases].

OBJECTIVE: To assess the abdominal partial resection of the vagina and infundibulopelvic colpopexia in women with posthysterectomy vaginal vault prolapse. OPERATIVE PROCEDURE AND MATERIAL: Slightly modifying the method described by Lampé, after laparotomy the elongated vaginal wall is resected and the vaginal vault is fixed by the sutures placed into the infundibulopelvic, sacrouterine, and round ligaments. The area is covered and elevated by the overlapping peritoneum. During the last 15 years (July 1990 - July 2005) the procedure was offered and performed in 74 women because of vaginal eversion (aged 28 to 84 years; average age at operation was 58.5 years) after abdominal (24 cases) or vaginal (39 cases) hysterectomy or supravaginal amputation (4 cases) or abdominal colpopexy (7 cases). In 16 cases, anterior or posterior colporrhaphy were subsequently performed because of cystocele or rectocele or both. RESULTS: Perioperative complications included two bladder injury (2.6%), and transitory voiding difficulty in five cases (6.7%). There was neither bowel nor ureter injury. Patients were followed up annually by pelvic examination; in one of the 74 patients the vaginal eversion partly relapsed and the colpopexy was repeated. In one patient 18 months later because of intraabdominal adhesions a laparotomy and adhesiolysis was performed. All patients have a functional vagina without urinary incontinence and without pelvic pain or any pelvic discomfort. CONCLUSION: The abdominal partial resection of the vagina and colpopexy to the pelvic ligaments seems simpler than other techniques that are commonly used and a safe and reliable operation for the correction of posthysterectomy vault prolapse and enterocele. A long term follow up is necessary to detect any late complications. The operation should be made only by gynecologists trained in the surgery of pelvic retroperitoneum.

Adult↗

Trisomies and other chromosome abnormalities detected after positive sonographic findings.

OBJECTIVE: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in thefirst and second trimester of pregnancy. STUDY DESIGN: The study investigated chromosome abnormalities detected in cases with prior abnormal ultrasoundfindings. During a 10-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The intervention was genetic amniocentesis in 1619 cases and chorionic villus sampling in 288. RESULTS: Karyotyping revealed 103 cases (5.4%) of chromosome abnormalities. Abnormalities with subcutaneous edema were examined: abnormal karyotype was found in 20% of cases with nonimmune hydrops, 48.1% of cases with cystic hygroma and 53.8% of cases with nonimmune hydrops and cystic hygroma together, 8.3% of cases with nuchal edema in the first trimester and 5.5% in the second trimester. The incidence of chromosome abnormalities in cases of cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart, isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings, the incidence of chromosome abnormalities was 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence of chromosome abnormalities was 1%. In cases of bilateral pyelectasis or pyelectasis associated with other anomalies, the incidence was 3%. In terms of anomalies of the abdominal wall and abdomen, the incidence of association with chromosome abnormalities was 9.5% in cases of omphalocele, 11.8% in cases of duodenal atresia and 5.7% in cases of echogenic bowel. In cases of short femur and humerus the rate of abnormal karyotypes was 16%. CONCLUSION: Ultrasound plays an important role in prenatal diagnosis. In cases of positive ultrasound findings, karyotyping is reasonable.

Amniocentesis↗

[Cytogenetic exploration of fetal ultrasound anomalies].

AIMS: To evaluate the rate of trisomies and other chromosome abnormalities after positive ultrasound findings in first and second trimester. METHODS: In this study authors investigate the chromosome abnormalities detected in cases with prior abnormal ultrasound findings. During a ten-year period there were 1907 invasive interventions carried out with the purpose of chromosome analysis. The invasive intervention was genetic amniocentesis in 1619 cases and chorion villus sampling in 288 cases. RESULTS: Karyotyping revealed 103 cases (5.4%) with chromosome abnormalities. Abnormalities with subcutaneous oedema were examined: abnormal karyotype was found in 20% of cases with non-immune hydrops, 48.1% of cases with cystic hygroma, and 53.8% of cases with non-immune hydrops and cystic hygroma altogether, 8.3% of cases with nuchal oedema in the 1st trimester, and 5.5% in the 2nd trimester. The incidence rate of chromosome abnormalities in cases with cerebral anomalies was 6.3% of cases with ventricular dilatation, 3.6% of cases with choroid plexus cysts, and 15.9% of cases with other cranial anomalies. Regarding abnormalities of the heart; isolated echogenic intracardiac focus and ventricular septal defects were not associated with chromosome abnormality, but, in conjunction with other positive ultrasound findings the incidence rate of chromosome abnormalities were 7.9% and 26.7%, respectively. Other anomalies of the heart and large blood vessels showed an abnormal karyotype incidence rate of 18.2%. In cases of unilateral pyelectasis unassociated with other anomalies, the incidence rate of the chromosome abnormalities was 1%. In cases of bilateral pyelectasis, or pyelectasis associated with other anomalies, the incidence rate was 3%. In terms of anomalies of the abdominal wall and the abdomen; the incidence rate of association with chromosome abnormalities was 9.5% in cases with omphalocele, 11.8% in cases with duodenal atresia, and 5.7% in cases with echogenic bowel. In cases with short femur and humerus the rate of abnormal karyotype was 16%. CONCLUSIONS: Ultrasound plays important role in prenatal screening and diagnostics. In cases with positive ultrasound findings, the performance of karyotyping is reasonable.

Chromosome Aberrations↗

Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy.

OBJECTIVE: To evaluate factors influencing parental decisions toward continuing or terminating a pregnancy with prenatal diagnosis of sex chromosome aneuploidy. METHODS: We reviewed the records of patients with fetuses with sex chromosome aneuploidy between 1990 and 2001. A questionnaire survey of women who chose to terminate such pregnancies was designed to examine aspects of their decision-making process. RESULTS: Forty-nine of 89 pregnancies with sex chromosome aneuploidy were terminated (termination rate 0.55; 95% confidence interval 0.45-0.65). Pregnancies with abnormal ultrasound findings (14/16, 87%), with 45,X or 47,XXY karyotypes (26/36, 72%), and with nonmosaic karyotypes (30/48, 63%) were terminated significantly more often than pregnancies with normal ultrasound findings (35/73, 48%; P <.01), with 47,XXX or 47,XYY karyotypes (4/12, 33%; P <.05), and with mosaic karyotypes (5/25, 20%; P =.01). There was a trend (P =.136) toward a lower rate of termination from 67% to 36% across time, with a significant decrease from 67% to 7% in pregnancies with 47,XXX; 47,XYY; and mosaic karyotypes (P <.01), and no change in cases with 45,X and 47,XXY karyotypes (67% compared with 69%; P = 1.0). Abnormal sexual development and infertility were the greatest parental concerns related to termination. CONCLUSION: Fear of having a child with abnormal sexual development or infertility remains the major determinant of parental decision toward terminating pregnancy, resulting in consistently high termination rates across time in pregnancies with 45,X and 47,XXY karyotypes. In cases with 47,XXX; 47,XYY; and mosaic karyotypes, the declining termination rate across time is a consequence of recent studies reporting normal sexual development and fertility.

Abortion, Induced↗

Chorionic villus sampling: a 15-year experience.

The authors describe experiences gained over the period of 1984-1999 at two medical centers with chorionic villus sampling (CVS). Altogether 1,149 CVSs had been performed between the 10th and 32nd gestational weeks. Prior to 1993 the transcervical approach (TC-CVS), after 1994 the transabdominal method (TA-CVS) was used. Analysis of data collected within the framework of this study was based on the following factors: indications for sampling, complications and incidence of pregnancy loss. 91.6% of the CVSs were carried out for the purposes of cytogenetic examination of the fetus. Over the past few years an increasing number of procedures had been carried out for molecular-genetic tests (7.6% of the total number of cases). Though the primary indication for cytogenetic tests was the advanced age of the mother, a remarkable increase in the number of samplings had taken place for the purpose of examining "suspicious ultrasound findings", minor anomalies detected by ultrasound. In this group the proportion of pathological cases was significantly higher (14%) than in all the other samplings, carried out for other indications. This data in itself underlines the importance of ultrasound screening performed in the 18-20th weeks of gestation. Over the first half of the period being reviewed (1984-1993, TC-CVS), a fetal loss of 4.8% occurring within 3 weeks from the date of sampling, dropped to 1.7% in the period subsequent to year 1994 (TA-CVS). In cases of TA-CSV, both the complications and spontaneous abortions were fewer. In 74.1% of the cases studied, birth had taken place after the 37th week of gestation. Premature births (6.4%) and stillbirth rate (1.1%) did not exceed normal rates observed in the general population. On the basis of our results, it is safe to say that in prenatal diagnosis, TA-CVS is a real alternative method of mid-trimester amniocentesis and it is recommended for use at any stage of the pregnancy.

Adolescent↗