Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient’s karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

Purpose: Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to prevent couples with monogenic disorders from passing them on to their child. Charcot–Marie–Tooth Disease (CMT) is a genetic disorder characterized by progressive extremity muscle degeneration and loss of sensory function. For the first time in Korea, we report our experience of applying single nucleotide polymorphism genotyping and karyomapping for PGT-M of CMT disease. Materials and Methods: Prior to clinical PGT-M, preclinical tests were performed using genotypes of affected families to identify informative single-nucleotide polymorphisms associated with mutant alleles. We performed five cycles of in vitro fertilization PGT-M in four couples with CMT1A, CMT2A, and CMT2S in CHA Fertility Center, Seoul Station. Results: From July 2020 through August 2021, five cycles of PGT-M with karyomapping in four cases with CMT1 and CMT2 were analyzed retrospectively. A total of 17 blastocysts were biopsied and 15 embryos were successfully diagnosed (88.2%).Ten out of 15 embryos were diagnosed as unaffected (66.7%). Five cycles of PGT-M resulted in four transfer cycles, in which four embryos were transferred. Three clinical pregnancies were achieved (75%) and the prenatal diagnosis by amniocentesis for all three women confirmed PGT-M of karyomapping. One woman delivered a healthy baby uneventfully and two pregnancies are currently ongoing. Conclusion This is the first report in Korea on the application of karyomapping in PGT-M for CMT patients. This study shows that karyomapping is an efficient, reliable and accurate diagnostic method for PGT-M in various types of CMT diseases.

The Korean Bronchoesophagological Society appointed a task force to develop a clinical practice guideline for tracheostomy. The task force conducted a systematic search of the Embase, Medline, Cochrane Library, and KoreaMed databases to identify relevant articles, using search terms selected according to key questions. Evidence-based recommendations for practice were ranked according to the American College of Physicians grading system. An external expert review and a Delphi questionnaire were conducted to reach a consensus regarding the recommendations. Accordingly, the committee developed 18 evidence-based recommendations, which are grouped into seven categories. These recommendations are intended to assist clinicians in performing tracheostomy and in the management of tracheostomized patients.

OBJECTIVE: To evaluate the efficacy of earlier oocyte retrieval in IVF patients with a premature LH surge on hCG day. METHODS: One hundred forty IVF patients (164 cycles) with premature LH surge on hCG day were included, retrospectively. We divided them into 2 study groups: LH surge with timed ovum pick-up (OPU) 36 hours after hCG injection (group B, 129 premature cycles), and LH surge with earlier OPU within 36 hours after hCG injection (group C, 35 cycles). Control groups were tubal factor infertility without premature LH surge (group A, 143 cycles). RESULTS: The mean age (year) was statistically higher in group C than in groups A or B (38.2+/-5.4 vs. 36.2+/-4.2 vs. 36.8+/-4.9, respectively; p=0.012). The serum LH levels (mIU/mL) on hCG day were significantly higher in group B and C than in group A (22.7+/-14.9 vs. 30.3+/-15.9 vs. 3.2+/-2.9, respectively; p>0.001). Among groups A, B, and C, 4.9%, 31.7%, and 51.4% of the cycles, respectively, had no oocytes, and the overall rates of cycle cancellation (OPU cancellation, no oocyte, or no embryos transferrable) were 15.4%, 65.9%, and 74.3%, respectively. The fertilization rate (%) was significantly higher in group B than in group C (73.2+/-38.9 vs. 47.8+/-42.9, p=0.024). The clinical pregnancy rate was significantly higher in group C than in groups A and B (44.4% vs. 27.3% vs. 9.1%, respectively, p=0.021). However, the miscarriage rate was also higher in group C than in group B (22% vs. 0%, respectively, p=0.026). CONCLUSION: Earlier OPU may not be effective in reducing the risk of cycle cancellation in patients with premature LH surge on hCG day. A larger scale study will be required to reveal the effectiveness of earlier ovum retrieval with premature LH surge.
Abortion, Spontaneous ; Embryonic Structures ; Female ; Fertilization ; Fertilization in Vitro ; Humans ; Infertility ; Lutein ; Luteinizing Hormone ; Oocyte Retrieval ; Oocytes ; Ovum ; Pregnancy ; Pregnancy Rate ; Retrospective Studies

OBJECTIVE: To evaluate correlations between serum anti-Mullerian hormone (AMH) levels, phenotypes of polycystic ovary syndrome (PCOS), obesity, and metabolic parameters in patients with PCOS. METHODS: A total of 175 patients with PCOS were diagnosed according to the Rotterdam Consensus were included. Exclusion criteria were age over 40, FSH>25 mIU/mL, and 17a-OHP>1.5 ng/mL. The Phenotypes of PCOS were divided into a severe form (oligo-anovulation, ANOV/hyperandrogenism/polycystic ovary morphology [PCOM]; n=59) and a mild form without HA (ANOV/PCOM, n=105). The serum AMH levels were classified into 3 groups (<5 vs. 5-10 vs. >10 ng/mL). Obesity was defined as body mass index (BMI) > or =25 kg/m2 (n=34). RESULTS: The mean age was 25.9+/-5.7 year and mean AMH level was 10.1+/-5.4 ng/mL. The BMI (kg/m2) was higher in group 1 (24.2+/-6.3) than in group 2 (21.9+/-4.3, p=0.046) or group 3 (21.6+/-3.3, p=0.019). There was no difference among the three groups in age, menstrual interval, antral follicle counts, androgens, or other metabolic parameters. The obesity group showed significantly lower AMH (7.7+/-3.9 ng/mL vs. 10.7+/-5.6 ng/mL), p=0.004) and low-density lipoprotein levels (93.1+/-21.2 mg/dL vs. 107.5+/-39.3 mg/dL, p=0.031), and showed higher total T (0.74+/-0.59 ng/mL vs. 0.47+/-0.36 ng/mL, p=0.001), free T (2.01+/-1.9 vs. 1.04+/-0.8 pg/mL, p=0.0001), and free androgen index (6.2+/-7.9 vs. 3.5+/-3.0, p=0.003). After controlling for age factors and BMI, the serum AMH levles did not show any significant correlations with other hormonal or metabolic parmeters. CONCLUSION: For PCOS patients under the age 40, serum AMH is not negatively correlated with age. High serum AMH levels can not predict the phenotype of PCOS and metabolic disturbances in PCOS patients in the non-obese group. Further study might be needed to define the relation more clearly.
Age Factors ; Androgens ; Anti-Mullerian Hormone ; Body Mass Index ; Carbamates ; Consensus ; Female ; Humans ; Hyperandrogenism ; Lipoproteins ; Obesity ; Organometallic Compounds ; Ovary ; Phenotype ; Polycystic Ovary Syndrome

OBJECTIVE: We compared the assisted reproductive technology (ART) outcomes among infertile women with polycystic ovary syndrome (PCOS) treated with IVM, conventional IVF, GnRH agonist, and GnRH antagonist cycles. METHODS: The prospective study included a total of 67 cycles in 61 infertile women with PCOS. The women with PCOS were randomized into three IVF protocols: IVM/IVF with FSH and hCG priming with immature oocyte retrieval 38 hours later (group A, 14 cycles), GnRH agonist long protocol (group B, 14 cycles), and GnRH antagonist multi-dose flexible protocol (group C, 39 cycles). IVF outcomes, such as clinical pregnancy rate (CPR), implantation rate (IR), miscarriage rate (MR), and live birth rate (LBR), were compared among the three groups. RESULTS: Age, BMI, and basal FSH and LH levels did not differ among the three groups. The number of retrieved oocytes and 2 pronucleus embryos was significantly lower in group A compared with groups B and C. The CPR, IR, MR, and LBR per embryo transfer showed no differences among the three groups. There was no incidence of ovarian hyperstimulation syndrome in group A. CONCLUSION: The IR, MR, and LBR in the IVM cycles were comparable to those of the GnRH agonist and GnRH antagonist cycles. The IVM protocol, FSH and hCG priming with oocyte retrieval 38 hours later, is an effective ART option that is comparable with conventional IVF for infertile women with PCOS.
Abortion, Spontaneous ; Cardiopulmonary Resuscitation ; Embryo Transfer ; Embryonic Structures ; Female ; Gonadotropin-Releasing Hormone ; Humans ; Incidence ; Live Birth ; Oocyte Retrieval ; Oocytes ; Ovarian Hyperstimulation Syndrome ; Ovary ; Polycystic Ovary Syndrome ; Pregnancy ; Pregnancy Rate ; Prospective Studies ; Reproductive Techniques, Assisted

OBJECTIVE: To compare the IVF outcomes of mild ovarian stimulation with conventional ovarian stimulation in poor responders. METHODS: From 2004 to 2009, 389 IVF cycles in 285 women showed poor responses (defined as either a basal FSH level > or =12 mIU/mL, or the number of retrieved oocytes < or =3, or serum E2 level on hCG day <500 pg/mL) were analyzed, retrospectively. In total, 119 cycles with mild ovarian stimulation (m-IVF) and 270 cycles with conventional ovarian stimulation (c-IVF) were included. Both groups were divided based on their age, into groups over and under 37 years old. RESULTS: The m-IVF group was lower than the c-IVF group in the duration of stimulation, total doses of gonadotropins used, serum E2 level on hCG day, the number of retrieved oocytes, and the number of mature oocytes. However, there was no significant difference in the number of good embryos, the number of transferred embryos, the cancellation rate, or the clinical pregnancy rate. In the m-IVF group over 37 years old, the clinical pregnancy rate and live birth rate were higher when compared with the c-IVF group, but this result was not statistically significant. CONCLUSION: In poor responder groups, mild ovarian stimulation is more cost effective and patient friendly than conventional IVF. Therefore, we suggest that mild ovarian stimulation could be considered for poor responders over 37 years old.
Embryonic Structures ; Female ; Fertilization in Vitro ; Gonadotropins ; Humans ; Live Birth ; Oocytes ; Ovulation Induction ; Pregnancy Rate ; Retrospective Studies

OBJECTIVE: The aim of this study was to investigate whether anti-Mullerian hormone (AMH) levels could be predict ovarian poor/hyper response and IVF cycle outcome. METHODS: Between May 2010 and January 2011, serum AMH levels were evaluated with retrospective analysis. Three hundred seventy infertile women undergoing 461 IVF cycles between the ages of 20 and 42 were studied. We defined the poor response as the number of oocytes retrieved was equal or less than 3, and the hyper response as more than 25 oocytes retrieved. Serum AMH was measured by commercial enzyme-linked immunoassay. RESULTS: The number of oocytes retrieved was more correlated with the serum AMH level (r=0.781, p<0.01) than serum FSH (r=-0.412, p<0.01). The cut-off value of serum AMH levels for poor response was 1.05 ng/mL (receiver operating characteristic [ROC] curves/area under the curve [AUC], ROC(AUC)=0.85, sensitivity 74%, specificity 87%). Hyper response cut-off value was 3.55 ng/mL (ROC(AUC)=0.91, sensitivity 94%, specificity 81%). When the study group was divided according to the serum AMH levels (low: <1.05 ng/mL, middle: 1.05 ng/mL - 3.55 ng/mL, high: >3.55 ng/mL), the groups showed no statistical differences in mature oocyte rates (71.6% vs. 76.5% vs. 74.8%) or fertilization rates (76.9% vs. 76.6% vs. 73.8%), but showed significant differences in clinical pregnancy rates (21.7% vs. 24.1% vs. 40.8%, p=0.017). CONCLUSION: The serum AMH level can be used to predict the number of oocytes retrieved in patients, distinguishing poor and high responders.
Anti-Mullerian Hormone ; Female ; Fertilization ; Fertilization in Vitro ; Humans ; Oocytes ; Pregnancy Rate ; Retrospective Studies ; Sensitivity and Specificity

OBJECTIVE: To evaluate the ability of serum anti-Mullerian hormone (AMH), FSH, and age to clinically predict ovarian response to controlled ovarian hyperstimulation (COH) in IVF patients with endometriosis. METHODS: We evaluated 91 COH cycles, including 43 cycles with endometriosis (group I) and 48 cycles with male factor infertility (group II) from January to December, 2010. Patients were classified into study groups based on their surgical history of endometriosis-group Ia (without surgical history, n=16), group Ib (with a surgical history, n=27). RESULTS: The mean age was not significantly different between group I and group II. However, AMH and FSH were significantly different between group I and group II (1.9+/-1.9 ng/mL vs. 4.1+/-2.9 ng/mL, p<0.01; 13.1+/-7.2 mIU/mL vs. 8.6+/-3.3 mIU/mL, p<0.01). Furthermore, the number of retrieved oocytes and the number of matured oocytes were significantly lower in group I than in group II. In group II, AMH and FSH as well as age were significant predictors of retrieved oocytes on univariate analysis. Only the serum AMH level was a significant predictor of poor ovarian response in women with endometriosis. CONCLUSION: Serum AMH may be a better predictor of the ovarian response of COH in patients with endometriosis than basal FSH or age. AMH level can be considered a useful clinical predictor of poor ovarian response in endometriosis patients.
Anti-Mullerian Hormone ; Endometriosis ; Female ; Fertilization in Vitro ; Humans ; Infertility ; Male ; Oocytes ; Ovulation Induction ; Sperm Injections, Intracytoplasmic

Peritoneal pregnancy is an implantation in the peritoneal cavity exclusive of tubal, ovarian, or intra-ligamentary implantations. This is a rare obstetric complication with high maternal mortality and even higher perinatal mortality, and secondary type was most common. Risk factors for peritoneal pregnancy are previous history of extrauterine pregnancy or tubal surgery pelvic post-inflammatory status or presence of an intra-uterine device. As it is a life-threatening condition, expectant management carries a risk of sudden life-threatening intra-abdominal bleeding and a generally poor fetal prognosis. So, when it is recognized, immediate termination of pregnancy is usually recommended. Early diagnosis of peritoneal pregnancy is difficult, but is important by their life threatening progress course to patients. Recently, we experienced primary peritoneal pregnancy which meets both the original and modified criteria. In this paper, we reported the case of early diagnosed and successfully treated peritoneal pregnancy despite of their diagnosis was incidentally.
Early Diagnosis ; Female ; Hemorrhage ; Humans ; Maternal Mortality ; Perinatal Mortality ; Peritoneal Cavity ; Pregnancy ; Pregnancy, Ectopic ; Prognosis ; Risk Factors