Teaching ultrasound-guided invasive procedures in fetal medicine: learning curves with and without an electronic guidance system. (49/368)

OBJECTIVE: To compare the learning curves of inexperienced junior obstetrics/gynecology registrars for ultrasound-guided invasive procedures on a training model, with and without an electronic guidance system. STUDY DESIGN: Four junior registrars performed their first 100 procedures on a training model with a new electronic guidance system, and four other junior registrars performed their first 100 procedures on the same training model without using the guidance system. All procedures were performed using a free-hand technique. We evaluated the quality of the procedure, which we defined as the time spent with the entire needle clearly visualized on the screen over the total duration of the procedure. We constructed learning curves for the eight junior registrars for comparative analysis. RESULTS: Quality of the procedure increased over time for all trainees. The learning curves were significantly steeper for trainees using the electronic guidance system. Trainees using the electronic guidance system performed better in the middle of their learning curve (procedures 25-75). All trainees reached the same level of quality by the end of their 100 procedures. CONCLUSIONS: The automated electronic guidance system helps faster learning but, after 100 procedures on a training model, both groups reached the same level of quality.  (+info)

Performance characteristics of putative tests for subclinical chorioamnionitis. (50/368)

OBJECTIVE: To evaluate amniotic fluid glucose, matrix metalloproteinase (MMP)-9, interleukin (IL)-6, and IL-12 for diagnosing subclinical chorioamnionitis in women with preterm labor. METHODS: Forty-four women in preterm labor at 22-35 weeks gestation with suspected subclinical chorioamnionitis underwent amniocentesis. Amniotic fluid analysis included Gram stain, culture, and determination of glucose, MMP-9, IL-6, and IL-12 concentrations. Median values of these analytes were compared using the Mann-Whitney U test. Sensitivity, specificity, and positive and negative predictive values were calculated for tests using a positive amniotic fluid culture or delivery within 24 hours as the key outcome variables. RESULTS: Amniotic fluid concentrations of glucose, MMP-9, and IL-6 correlated closely with positive culture or delivery within 24 hours. IL- 12 concentrations did not correlate with either a positive culture or delivery within 24 hours. CONCLUSIONS: Amniotic fluid glucose, MMP-9, and IL-6 reliably predict microbial invasion of the amniotic cavity or imminent delivery. IL- 12 values did not correlate with amniotic fluid culture results or imminent delivery.  (+info)

Teaching invasive perinatal procedures: assessment of a high fidelity simulator-based curriculum. (51/368)

OBJECTIVE: Learning curves pose a difficult problem in the teaching of technical skills: how do you teach procedural skills without compromising patients' health? A simulator-based curriculum has been designed to minimize the risks to patients undergoing amniocentesis by shifting the learning curve away from patients and into the laboratory. This study evaluated the effectiveness of a high-fidelity simulator-based curriculum in improving the performance of amniocentesis by obstetric trainees. DESIGN: Thirty trainees received a course on the practice of amniocentesis. The curriculum consisted of a lecture, a syllabus, and a hands-on training session with the simulator. Pre- and post-training performance were evaluated with two rating scales. Training and performance evaluation were completed using the same simulator. The effectiveness of the simulator-based workshop and the effect of year of training were assessed using a two-way analysis of variance. RESULTS: Performance scores improved from a mean score of 55% to 94% using checklist scoring and from 57% to 88% using global ratings. The two-way analysis of variance revealed a significant effect of training (F1,60 = 43.57; P < 0.001) accounting for 45% of the variance in scores, and a significant effect of experience level (F2,60 = 9.16; P < 0.001) accounting for 25% of the variance in scores. CONCLUSIONS: A comprehensive curriculum based on a high-fidelity simulator was effective at improving skills demonstrated on the simulator. The challenge remains to establish that skills acquired on a simulator are transferable to the clinical setting.  (+info)

Birth of a healthy male after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from a man with nonmosaic Klinefelter's syndrome. (52/368)

We here report on a birth of a male, with normal karyotype, after frozen thawed blastocyst transfer following intracytoplasmic injection of frozen thawed testicular spermatozoa from an azoospermic 27-year-old man with nonmosaic Klinerfelter's syndrome. Testicular sperm were retrieved by percutaneous needle biopsy.  (+info)

Preimplantation gender diagnosis by fluorescence in situ hybridization. (53/368)

OBJECTIVE: To describe the clinical application of fluorescence in situ hybridization (FISH ) in preimplantation gender diagnosis. METHODS: Preimplantation gender diagnosis was performed in 2 female hemophilia A carriers, 1 male patient with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and 2 male patients with Y chromosome abnormality. Embryo sex was identified by FISH in total of 6 treatment cycles. RESULTS: A total of 123 cumulus-oocytes were retrieved in 6 treatment cycles. Sixty-one embryos were available for embryo biopsy. The success rate of biopsy was 86.9% (53/61), with a further cleavage rate of 62.3% (33/53). In the FISH procedure, one cell was lost during fixation, leading to a 98.1% (52/53) fixation rate. Totally, 16 female embryos and 3 male embryos were transferred to 5 patients in 6 cycles. Three healthy babies were born. The diagnosis was confirmed by subsequent analysis of amniocytes and embryonic buds after embryo reduction. CONCLUSIONS: FISH is an efficient and reliable technique for determining the sex of human preimplantation embryos. Selective abortion and births of affected children can be avoided by preimplantation gender diagnosis.  (+info)

Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. (54/368)

BACKGROUND: Prenatal testing was offered in all pregnancies obtained after ICSI with ejaculated or non-ejaculated sperm as part of the evaluation of the safety of ICSI. METHODS: Between 1990 and 2001, a chorionic villus sampling (CVS) or amniocentesis was offered for multiple or singleton pregnancies respectively during a genetic counselling session for all couples applying for ICSI. ICSI was carried out using ejaculated, epididymal or testicular sperm. RESULTS: In total, 1586 ICSI fetuses obtained after fresh embryo transfer were tested by CVS (n = 698) or by amniocentesis (n = 888). Abnormal fetal karyotypes were found in 47 samples [3.0%; 95% confidence interval (CI) 2.2-3.9%]; 25 anomalies (1.6%; 95% CI 1.0-2.3%) were de novo. These were 10 sex chromosomal anomalies and 15 autosomal anomalies [either numerical (n = 8) or structural (n = 7)], and 22 inherited abnormalities (1.4%; 95% CI 0.9-2.1%) (21 balanced, one unbalanced). In 17/22 inherited cases the chromosomal structural defect was inherited from the father. A significantly higher percentage of 2.1% de-novo prenatal chromosomal anomalies was observed for sperm concentrations of <20x10(6) sperm per ml, as compared with 0.24% if the sperm concentration was vertical line 20x10(6) sperm per ml (Fisher's exact test, P = 0.006). No statistical difference in frequency of chromosomal anomalies was observed for lower threshold values of sperm concentration (<1x10(6), <5x10(6), <10x10(6) and <15x10(6)). A statistical difference was observed for motility criteria, but not morphology. Three chromosomal anomalies were found prenatally after use of epididymal or testicular sperm in a total of 94 samples; two (of 83 tested) were from patients with obstructive and one (of nine tested) was from a patient with non-obstructive azoospermia. CONCLUSIONS: A significantly higher rate of de-novo chromosomal anomalies (1.6 versus 0.5% in amniocentesis for a mean maternal age of 33.5 years; P < 0.007) was observed in ICSI offspring, relating mainly to a higher number of sex chromosomal anomalies and partly to a higher number of autosomal structural anomalies. This finding was related to sperm concentration and motility. The significantly higher rate of observed inherited anomalies (1.4 versus 0.3-0.4% in prenatal tests in the general population; P < 0.001) was related to a higher rate of constitutional chromosomal anomalies, mainly in the fathers. The hypothesis of a higher risk of post-zygotic events as a consequence of the ICSI procedure leading to a higher proportion of chromosomal mosaicism was not confirmed in this study. Couples should be informed of the risks of an abnormal result related to sperm quality, and of the risk linked to a prenatal procedure as well as about the relatively benign character of some chromosomal anomalies such as de-novo structural anomalies or sex chromosomal anomalies in order to be able to make a choice for prenatal testing, or not.  (+info)

Amniotic fluid interphase fluorescence in situ hybridization (FISH) for detection of aneuploidy; experiences in 130 prenatal cases. (55/368)

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, 21, and sex chromosomes X and Y. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. We retrospectively reviewed 130 amniotic fluid interphase FISH analyses from January 1997 to December 2001. The review was done in order to assess the role of interphase FISH among the patients who were at the risk of fetal aneuploidies. The sample was considered to be aneuploid when 70% of or more than the total number of hybridized nuclei displayed the same abnormal hybridization pattern for a specific probe. All of 130 cases but one met the criteria. The results were considered as informative and they were obtained in 24-48 hr. The overall detection rate for aneuploidies was 100% (2 cases of trisomy 21, 2 cases of trisomy 18, and 1 case of Turner syndrome). In comparison to cytogenetics, the rates of both sensitivity and specificity were 100%. The experiment demonstrates that FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies. The experiment can also serve as an adjunctive test to help cytogenetics to reduce significant amount of emotional stress of patients and physicians through early decision making process.  (+info)

X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. (56/368)

During the past few years, rapid prenatal diagnosis of chromosome aneuploidies has been successfully achieved by quantitative fluorescent PCR (QF-PCR) amplification of chromosome-specific small tandem repeats (STR). This approach has proven to be very useful in clinical settings, since it allows the detection of major numerical disorders in a few hours after sampling. For the detection of Turner's syndrome (45,X), several highly polymorphic STR on the X chromosome are needed in order to reduce the likelihood that a normal female might be homozygous for all sequences and, consequently, that the test could fail to discriminate between samples retrieved from a Turner's and a normal female fetus. Here we report a new method for rapid and accurate detection of X chromosome copy number in prenatal samples that does not depend on STR heterozygosity. The test is based on QF-PCR amplification of the X-linked HPRT together with the autosomal D21S1411 used as internal control for quantification. In the course of this study, this assay allowed the prenatal diagnosis of a rare case of a normal female homozygous for four selected highly polymorphic X chromosome STR, as well as the assessment of the normal chromosome complement of a fetus homozygous for five chromosome 21 markers.  (+info)