Rapid Prenatal Diagnosis of Trisomy 21 by Real-time Quantitative Polymerase Chain Reaction with Amplification of Small Tandem Repeats and S100B in Chromosome 21

Trisomy 21 (Down syndrome) is the most common congenital anomaly, and it occurs in one out of 700-1000 births. Current techniques such as amniocentesis and chorionic villi sampling (CVS) require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction (PCR) of fetal DNA from amniotic fluid. Real-time quantitative PCR was performed with DNA templates obtained from 14 normal blood samples, 10 normal amniotic fluid samples, 14 Down syndrome blood samples, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct the amplification of the 165-bp fragment of the insulin-like growth factor (IGF) -1 gene on chromosome 12 using a PCR primer were included to generate an internal standard for quantitation. The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the blood of Down syndrome patients than those in the control group. The differences between these two groups were statistically significant (p-values were 0.0012 and 0.0016, respectively). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses than those in the control group. The difference between these two groups was statistically significant (p-values were 0.0379 and 0.0379, respectively). Prenatal diagnosis of trisomy 21 by real-time quantitative PCR using STR (small tandem repeats) amplification of D21S167 and S100B is a useful, accurate and rapid diagnostic method. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood, and for preimplantation genetic diagnosis and prenatal counseling.

Clinical significance of serum prealbumin in gynecologic malignancy / 대한산부인과학회지

OBJECTIVE: The prognosis of gynecologic malignancies was closely related to the nutritional status of patients as well as clinical or surgical staing at the time of diagnosis. The serum prealbumin has relatively short half-life among the nutritional parameters and could be used to detect immediate postoperative change of nutritional state in surgical patients. The purpose of this study was to evaluate the clinical impact of serum prealbumin and the validity of prealbumin in prediction and detection of postoperative complications in high risk patients with gynecologic malignancy. METHODS: 153 gynecologic malignant patients and 68 non-malignant patients operated from January 1999 to May 2003 were studied retrospectively. The serum albumin, total lymphocyte count (TLC), prealbumin were compared between the malignant and non-malignant patients, early and advanced stage cancer group, and complicated and uncomplicated group. Prealbumin was defined as the difference between preoperative and postoperative prealbumin concentrations. The correlation was statistically analyzed by Student's t-test, one way ANOVA test, and x2-test (SPSS ver. 11.0). RESULTS: There was significant difference in prealbumin between non-malignant patients and malignant patients (p=0.049). There was also significant difference in prealbumin between carcinoma in situ of uterine cervix and cervical cancer group (p=0.049). However there were no significant differences in prealbumin between early and advanced stage ovarian cancer and uterine cancer (p=0.48, p=0.67, respectively). There were no significant differneces between complicated and uncomplicated groups in prealbumin and delta prealbumin. CONCLUSION: Serum prealbumin was not useful in prediction and detection of high risk group of postoperative complications in gynecologic cancer patients.

Rapid Prenatal Diagnosis of Trisomy 21 by Real-Time Quantitative Polymerase Chain Reaction / 대한산부인과학회잡지

OBJECTIVE: Trisomy 21 (Down syndrome) is the most common chromosomal anomaly which occurs 1 out of 700-1000 birth. Current techniques such as amniocentesis, chorionic villi sampling (CVS), require lengthy laboratory culture procedures and high costs. This study was undertaken to establish a rapid prenatal diagnosis of trisomy 21 using real-time quantitative polymerase chain reaction of fetal DNA from amniotic fluid. METHODS: Real-time quantitative PCR was performed with DNA template obtained from 14 normal serum, 10 normal amniotic fluid samples, 14 Down syndrome serum, and 7 Down syndrome amniotic fluid samples. Primers for D21S167 and S100B of chromosome 21 were used. Primers that direct amplification of 165-bp fragment of the IGFI (Insulin-like growth factor-1) gene on chromosome 12 are included to generate an internal standard for quantitation. RESULTS: The relative levels of D21S167 and S100B were 2.6 and 2.4 times higher in the serum of Down syndrome patients compared to the control group. The difference between these two groups was statistically significant (P-value: 0.0012 and 0.0016). The relative levels of D21S167 and S100B were 2.1 and 2.7 times higher in the amniotic fluid of Down syndrome fetuses compared to control group. The difference between these two groups was statistically significant (P-value 0.0379 respectively). CONCLUSION: Prenatal diagnosis of trisomy 21 by real-time quantitative PCR-associated STR (small tandem repeats) analysis of D21S167 and S100B is useful, accurate and rapid diagnostic method and also can be employed in diagnosis of trisomy 13, 18. Furthermore, it may also be useful for prenatal diagnosis with fetal DNA from maternal blood and for preimplantation genetic diagnosis.

Correlation of post-operative morbidity and various time intervals between large loop excision of transformation zone and total abdominal hysterectomy / 대한산부인과학회잡지

OBJECTIVE: This study was aimed to detail the effects of various time intervals between large loop excision of transformation zone (LLETZ) and total abdominal hysterectomy (TAH) upon post-operative morbidity. METHODS: The charts of 169 patients selected among 306 patients who had underwent LLETZ followed by type 1 extended abdominal hysterectomy from Jan. 1996 to Dec. 2001 at Yonsei University Medical Center were retrospectively reviewed for post-operative morbidity. The patients were categorized into three groups according to time interval: within 48 hours, within 48 hours to 6 weeks, longer than 6 weeks. Correlation of post-operative morbidity and time interval was evaluated. One way ANOVA and chi-square test were used for statistical analysis. RESULTS: There were no significant differences in demographic and obstetric characteristics among three groups. There were no significant differences in operative time (104.3 min, 99.6 min, 102.4 min), blood loss (190 ml, 182 ml, 160 ml), hemoglobin change (1.12 g/dl, 0.92 g/dl, 1.28 g/dl), febrile morbidity (6.7%, 6.8%, 0.0%), wound problems (6.7%, 9.1%, 10.0%) and urinary difficulty (2.9%, 0.0%, 5.0%). CONCLUSION: We found no significant differences in post-operative morbidity according to various time intervals between LLETZ and TAH. It could be recommended for TAH after LLETZ to be performed regardless of the intervening interval because there is no specific suitable time for the patients.

Correlation of post-operative morbidity and various time intervals between large loop excision of transformation zone and total abdominal hysterectomy / 대한산부인과학회잡지

OBJECTIVE: This study was aimed to detail the effects of various time intervals between large loop excision of transformation zone (LLETZ) and total abdominal hysterectomy (TAH) upon post-operative morbidity. METHODS: The charts of 169 patients selected among 306 patients who had underwent LLETZ followed by type 1 extended abdominal hysterectomy from Jan. 1996 to Dec. 2001 at Yonsei University Medical Center were retrospectively reviewed for post-operative morbidity. The patients were categorized into three groups according to time interval: within 48 hours, within 48 hours to 6 weeks, longer than 6 weeks. Correlation of post-operative morbidity and time interval was evaluated. One way ANOVA and chi-square test were used for statistical analysis. RESULTS: There were no significant differences in demographic and obstetric characteristics among three groups. There were no significant differences in operative time (104.3 min, 99.6 min, 102.4 min), blood loss (190 ml, 182 ml, 160 ml), hemoglobin change (1.12 g/dl, 0.92 g/dl, 1.28 g/dl), febrile morbidity (6.7%, 6.8%, 0.0%), wound problems (6.7%, 9.1%, 10.0%) and urinary difficulty (2.9%, 0.0%, 5.0%). CONCLUSION: We found no significant differences in post-operative morbidity according to various time intervals between LLETZ and TAH. It could be recommended for TAH after LLETZ to be performed regardless of the intervening interval because there is no specific suitable time for the patients.