Fertility-sparing surgeries without adjuvant therapy through term pregnancies in a patient with low-grade endometrial stromal sarcoma: A case report.

BACKGROUND: Low-grade endometrial stromal sarcoma (LGESS) is a rare indolent tumor with a favorable prognosis. With the importance of improving quality of life recognized, fertility-sparing surgery may be an option for those young women. However, most of the reports suggested that stage IA patients might be candidates for fertility-sparing surgery, and adjuvant hormonal treatment was considered a feasible adjuvant therapy for reducing the recurrence risk of patients with LGESS and hysterectomy was recommended after the completion of pregnancy and delivery. CASE SUMMARY: A 28-year-old pregnant woman diagnosed with stage IB LGESS was treated by fertility-sparing surgery when term cesarean section delivery was performed. Without any adjuvant treatment, she had the other successful term pregnancy and cesarean section 45 mo after first fertility-sparing surgery. Moreover, only hysteroscopic resection was performed to retain fertility again even when the tumor recurred after 6 years. So far the patient's fertility and disease-free status have remained for more than 8 years without any adjuvant therapy despite local resection of the sarcoma. And the two babies were in good health. CONCLUSION: For young patients with stage I LGESS, it seems that repeated fertility-sparing surgeries could be performed even after two term deliveries and the tumor recurrence, and it might be attempted without adjuvant therapy but the counseling should be considered as mandatory.

Noninvasive Swansea criteria are valuable alternatives for diagnosing acute fatty liver of pregnancy in a Chinese population.

BACKGROUND: This study aims to assess the diagnostic and prognostic value of Swansea criteria in diagnosing acute fatty liver of pregnancy (AFLP) in a Chinese population. METHODS: A retrospective study was conducted on 52 Chinese women diagnosed with AFLP. All selected cases were reassessed using the Swansea criteria with special focus on the noninvasive criteria, since performing a liver biopsy for this indication is rare in a Chinese population. RESULTS: Ninety point four percent of patients fulfilled five or more of the Swansea criteria. Thirty-one cases were positive for six or more Swansea criteria, but there were no significance differences between patients when using a cutoff criteria <6 or >6. When patients were positive for less than seven criteria, frequency of stillbirth, continuous blood purification (CBP) treatment, hysterectomy, and postpartum hemorrhage were not increased. However, patients who were positive for seven or more criteria had a significantly higher risk of stillbirth and a higher rate of CBP treatment (p < 0.05). Areas under the receiver operating characteristic (ROC) curve of postpartum hemorrhage was 0.670, which reached a statistical significance (p = 0.040). We observed a significantly elevated postpartum hemorrhage along with positivity of the Swansea criteria (p = 0.040). CONCLUSIONS: Swansea criteria without liver biopsy are good screening tools for AFLP diagnosis, and may be useful for assessing disease severity.

[Correlation of free fetal DNA with beta-human chorionin gonadotropin in circulation in pregnant women with high risk of Down's syndrome].

OBJECTIVE: To investigate significance and correlation of free fetal DNA (fDNA) and beta-human chorionic gonadotropin (beta-hCG) in circulation in pregnant women with high-risk of Down's syndrome (DS). METHODS: Pregnant women with a male fetus at second trimester screening for Down's syndrome were chosen, including 5 women with a trisomy 21 fetus (DS group), 21 women with DS high-risk pregnant women (DS high-risk group) matched with 22 normal pregnant women as control group. Free fDNA in maternal plasma were extracted. Male DYS14 gene was labled as fDNA, real-time PCR was used to detect fDNA expression. The concentration of beta-hCG in maternal serum was detected by chemiluminescence immune assay. The relationship between level of free fDNA and beta-hCG concentration was analyzed by Pearson correlation analysis. RESULTS: (1) The mean level of free fDNA was (127 +/- 58) GE/ml in DS group, which was significantly higher than (78 +/- 28) GE/ml in DS high-risk group and (48 +/- 21) GE/ml in control group,respectively (P < 0.01). When compared the level of free fDNA between DS high-risk group and control group, it reached statistical difference (P < 0.01). (2) The mean concentration of beta-hCG was (97 +/- 43) kU/L in DS group, which was significantly higher than (58 +/- 25) kU/L in DS high-risk group and (38 +/- 19) kU/L in control group, respectively (P < 0.01). The level of beta-hCG in DS high-risk group was also significantly higher than control group (P < 0.01). (3) The positive relationship between the level of free fDNA in maternal plasma and beta-hCG concentration in maternal serum was observed among three groups (r = 0.83, P < 0.05; r = 0.76,P < 0.01; r = 0.86,P < 0.01). CONCLUSIONS: Free fDNA in maternal plasma might be a candidate marker used for prenatal DS screening. However, its clinical value need to be evaluated because of positive correlation between free fDNA and beta-HCG in maternal circulation.

Use of maternal plasma for non-invasive prenatal diagnosis of fetal ABO genotypes.

BACKGROUND: Measurement of free fetal DNA in maternal plasma opened a door for non-invasive prenatal diagnosis. Prenatal diagnosis of fetal ABO genotypes can provide a basis for the prevention and therapy of maternal-fetal incompatibility. We identified fetal ABO genotypes using fetal DNA in plasma from pregnant women with blood group O. The aim of the study was to investigate the accuracy and feasibility of this method. METHODS: A total of 105 blood group O women in middle or late pregnancy were enrolled. Fetal DNA in maternal plasma and genomic DNA in umbilical vein blood from newborns were extracted using a QIAamp DNA Blood Kit. DNA was amplified to identify ABO genotypes by PCR with sequence-specific primers (PCR-SSP). The genotype results were evaluated using serologic tests for ABO phenotyping. RESULTS: Using DNA from umbilical vein blood, ABO genotypes of 105 newborns were successfully identified by PCR-SSP. Using fetal DNA from maternal plasma, 88.6% (93/105) fetal ABO genotypes was correct; 12 false results were from 66 pregnant women with fetuses of type non-O. The accuracy in middle pregnancy was lower than that in late pregnancy, although the difference was not significant (0.05

Detection of genomic imbalances by comparative genomic hybridization in Chinese fetuses with malformations.

AIM: The purpose of the study was to evaluate the feasibility and reliability of comparative genomic hybridization (CGH) in the detection of genomic imbalances in Chinese malformed fetuses. METHODS: Genomic DNA was extracted from umbilical cord blood or fresh amniotic fluid of 9 malformed fetuses and labeled with SpectrumGreen dUTP or SpectrumRed dUTP. A pair of CGH analyses in which the fluorochromes were exchanged was carried out for each sample. RESULTS: Samples from 9 malformed fetuses were analyzed successfully by CGH. Numerical chromosome aberrations were detected in samples from cases 4, 8 and 9, and were verified by fluorochrome-exchanged CGH. Trisomy 21q was detected in case 4, del 2p24-pter and dup 12p13 was detected in case 8, and del 1p33-pter and del 22q11-12 were detected in case 9. CONCLUSION: CGH is a reliable technique for the detection of genomic imbalances. Fluorochrome-exchanged CGH can reduce inconsistencies in the results caused by deviations in the process of DNA labeling and hybridization, and increase the accuracy and reliability in cases when conventional cytogenetic analysis is unavailable.