Recurrence, Reoperation, Pregnancy Rates, and Risk Factors for Recurrence after Ovarian Endometrioma Surgery: Long-Term Follow-Up of 756 Women

Purpose@#The aims of this study were to evaluate the cumulative recurrence, reoperation, and pregnancy rates after ovarian endometrioma surgery at a single institution for more than a 5-year follow-up period. @*Materials and Methods@#This study was conducted as a retrospective chart review of patients with ovarian endometrioma who underwent surgery between January 2008 and March 2016. Study subjects included premenopausal women with at least 5 years of follow-up. Exclusion criteria were patients with stage I or II ovarian endometrioma, those who underwent hysterectomy or bilateral oophorectomy, and presence of residual ovarian lesions on the first postoperative ultrasonography at 3–6 months. Recurrence was defined as a cystic mass by ultrasonography. @*Results@#A total of 756 patients were recruited. The median follow-up duration was 85.5 months (interquartile range, 71–107 months). Recurrent endometrioma was detected in 27.9% patients, and reoperation was performed in 8.3% patients. Cumulative rates at 24, 36, 60, and 120 months were 5.8%, 8.7%, 15.5% and 37.6%, respectively, for recurrence and 0.1%, 0.5%, 2.9%, and 15.1%, respectively, for reoperation. After multivariable analysis, age ≤31 years [hazard ratio (HR)=2.108; 95% confidence interval (CI)=1.522–2.921; p<0.001], no subsequent pregnancy (HR=1.851; 95% CI=1.309–2.617; p<0.001), and postoperative hormonal treatment ≤15 months (HR=2.869; 95% CI=2.088–3.941; p<0.001) were significant risk factors for recurrent endometrioma. Among 315 patients who desired pregnancy, 54.0% were able to have a successful pregnancy and delivery. @*Conclusion@#Considering that longer postoperative hormonal treatment is the sole modifiable factor for recurrent endometrioma, we recommend long-term hormonal treatment until subsequent pregnancy, especially in younger women.

Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases

Purpose@#The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we aimed to confirm the changes in the number of invasive tests performed after introducing NIPT. @*Materials and Methods@#NIPT data from a large single center from March 2014 to November 2018 were analyzed. Karyotyping was confirmed based on chorionic villus sampling, amniocentesis, or postnatal cord/peripheral blood sampling. Data on maternal age, gestational age, fetal fraction, and ultrasonographic results were analyzed. As the secondary outcome, the number of amniocentesis cases before and after the introduction of NIPT was compared. @*Results@#Overall, 1,591 single pregnancy cases that underwent NIPT were enrolled. The mean maternal age was 36.05 (22-45) years. The average gestational age and fetal fraction were 12+1 (9+3 to 27+1) weeks and 10.95% (3.6% to 31.3%), respectively. A total of 1,544 cases (97.0%) were reported to have negative NIPT results and 40 (2.5%) had positive NIPT results. The sensitivity and specificity of the overall abnormalities in NIPT were 96.29% and 99.36%, respectively. The positive predictive value (PPV) and negative predictive value were 72.22% and 99.93% respectively. The mean number of amniocentesis cases were 21.7 per month (21.7±3.9), which significantly decreased from 31.5 per month (31.5±4.8) before conducting NIPT as a screening test. @*Conclusion@#NIPT is currently a useful, powerful, and safe screening test. In particular, trisomy 21 is highly specific due to its high PPV. NIPT can reduce the potential risks of procedure-related miscarriages during invasive testing.

Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal translucency. With the development of genetic diagnostic techniques, however, it has been reported that subtle variations not detectable by conventional karyotyping might occur in cases of pathologic clinical syndrome in euploid fetuses. One of the newer, high-resolution genetic methods in the prenatal setting is chromosomal microarray. The possible association between nuchal translucency thickness with normal karyotype and submicroscopic chromosomal abnormalities detectable by microarray has been studied. How and when to apply microarray in clinical practice, however, is still debated. This article reviews the current studies on the clinical application of microarray in cases of increased nuchal translucency with normal karyotype for prenatal diagnosis.

Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

Maternal antimullerian hormone as a predictor of fetal aneuploidy occurring in an early pregnancy loss

OBJECTIVE: The purpose of the study was to examine the relationship between the parameter representing ovarian reserve and the fetal aneuploidy in early spontaneous miscarriage. METHODS: A multicenter retrospective cohort study was performed in patients who were diagnosed with early pregnancy loss (< or =13 gestational weeks) and examined for fetal karyotype at the CHA Gangnam Medical Center, CHA Bundang Medical Center, and CHA Gumi Medical Center between January 2011 and December 2012. Karyotyping was performed by the Genetic Laboratory of the Fertility Center of CHA Gangnam Medical Center. Medical records were reviewed for demographics, karyotype analysis and hormonal assay of ovarian reserve including antimullerian hormone (AMH) and follicle stimulating hormone. Statistical analysis was performed using SPSS software. RESULTS: A total 462 patients were included in this study. The mean age of the patients was 35.31+/-4.12 years and the mean AMH level was 3.88+/-3.50 ng/mL (n=195). Two hundred eleven conceptuses (45.7%) of patients showed the euploid and 251 (54.3%) showed the aneuploid. There are significant differences in maternal age, AMH and gestational age between fetal euploid and aneuploid groups (34.46+/-4.35 vs. 36.04+/-3.78 years, P<0.001; 4.60+/-3.86 vs. 3.43+/-3.18 ng/mL, P=0.022; 7.67+/-1.54 vs. 8.27+/-1.46 weeks, P<0.001, respectively). Multivariate analysis revealed that low AMH level and early gestational age were maternal age-independent markers for fetal aneuploid (P<0.001 and P=0.045, respectively). CONCLUSION: Low maternal AMH level might be a predicting marker for fetal aneuploid in early pregnancy loss.