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.

Biomarkers and genetic factors for early prediction of pre-eclampsia

Pre-eclampsia is known to cause considerable maternal morbidity and mortality. Thus, many studies have examined the etiopathogenesis of pre-eclampsia. While many pathophysiological factors related to pre-eclampsia have been identified, the precise etiopathogenesis of pre-eclampsia remains unclear. Numerous studies have identified factors for the early prediction for pre-eclampsia to lead to preparation and closer observation on pre-eclampsia when it occurs. This article reviews on current studies of biomarkers and genetic factors related to pre-eclampsia, which may be important for developing strategies for early prediction of pre-eclampsia.

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.

Progressive Multiple Cystic Changes in Both Lungs in a Patient Treated with Gefitinib for Lung Adenocarcinoma with Multiple Lung Metastases

Gefitinib is regarded as a relatively safe agent for the treatment of an advanced non-small cell lung cancer (NSCLC). Pulmonary toxicity such as interstitial lung disease associated with gefitinib is uncommon with an estimated all time incidence around 1% worldwide. Moreover, a case of gefitinib associated with pulmonary cystic changes has not been reported yet. In this report we present a case of progressive multiple air cystic changes in both lungs in a patient with NSCLC and intrapulmonary metastases who underwent a gefitinib therapy.

Maternal age-specific rates of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age

OBJECTIVE: To evaluate the association of maternal age with occurrence of fetal chromosomal abnormalities in Korean pregnant women of advanced maternal age (AMA). METHODS: A retrospective review of the amniocentesis or chorionic villous sampling (CVS) database at Gangnam and Bundang CHA Medical Centers, between January 2001 and February 2012, was conducted. This study analyzed the incidence of fetal chromosomal abnormalities according to maternal age and the correlation between maternal age and fetal chromosomal abnormalities in Korean pregnant women > or =35 years of age. In addition, we compared the prevalence of fetal chromosomal abnormalities between women of AMA only and the others as the indication for amniocentesis or CVS. RESULTS: A total of 15,381 pregnant women were selected for this study. The incidence of aneuploidies increased exponentially with maternal age (P<0.0001). In particular, the risk of trisomy 21 (standard error [SE], 0.0378; odds ratio, 1.177; P<0.001) and trisomy 18 (SE, 0.0583; odds ratio, 1.182; P=0.0040) showed significant correlation with maternal age. Comparison between women of AMA only and the others as the indication for amniocentesis or CVS showed a significantly lower rate of fetal chromosomal abnormalities only in the AMA group, compared with the others (P<0.0001). CONCLUSION: This study demonstrates that AMA is no longer used as a threshold for determination of who is offered prenatal diagnosis, but is a common risk factor for fetal chromosomal abnormalities.

Ultrasound-guided local injection of potassium chloride (KCl) and methotrexate (MTX) in the treatment of cornual pregnancy / 대한산부인과학회지

OBJECTIVE: To evaluate efficacy and safety of local injection of potassium chloride (KCl) and methotrexate (MTX) in the treatment of cornual pregnancy. METHODS: We retrospectively reviewed all cases of cornual pregnancy treated conservatively from 2005 through August 2007. Eight cases were identified and two cases were heterotopic interstitial pregnancy. All cases were managed with local injection of KCl or methotrexate under ultrasound guidance and 2 cases were treated with intra-muscular injection of MTX in combination. After the procedure all cases with cardiac activity was confirmed to be aborted by ultrasound. Also serial follow-up sonographic examination and serum beta-hCG measurement were performed. RESULTS: The mean initial beta-hCG level was 53,331.6 mIU/mL and ranged from 14,332 mIU/mL to 125,721 mIU/mL. Mean gestational age was 48.3 days from 40 to 65 days. All cases were aborted successfully and follow up beta-hCG were declined abruptly. Two cases of heterotopic pregnancy resulted in successful deliveries at full term. CONCLUSION: Cornual resection or hysterectomy should no longer be the first line of treatment for hemodynamically stable patients with cornual pregnancy. They can be successfully treated through local injection of MTX or KCl by ultrasound guidance.

Spontaneous Massive Hemothorax Associated with Solitary Posterior Mediastinal Neurilemmoma / 결핵및호흡기질환

Neurogenic tumors are common in posterior mediastinal tumors and neurilemmoma represents approximately 40% of neurogenic tumors arising in the mediastinum. It is usually asymptomatic, and is generally diagnosed incidentally. In some cases, they presented with symptoms of nerve or airway compression. However, a solitary neurilemmoma, particularly not associated with von Recklinghausen disease, with spontaneous hemothorax is quite rare. We report a case of spontaneous massive hemothorax associated with a solitary neurilemmoma.

A Case of Multifocal Tuberculosis Mimicking Metastatic Malignancy / 결핵및호흡기질환

Tuberculosis remains as a major public health problem worldwide. In addition to classic pulmonary tuberculosis, tuberculosis may sometimes present atypically. In the case of atypical tuberculosis, the unusual sites and properties that mimic other diseases can lead to a misdiagnosis and therapeutic delay. Abdominal and pharyngeal tuberculosis are uncommon extrapulmonary manifestations of tuberculosis. To the best of our knowledge, a combination of abdominal and pharyngeal tuberculosis with endobronchial tuberculosis has not been reported. We report a case of concurrent abdominal and pharyngeal tuberculosis in a patient with chronic endobronchial tuberculosis mimicking a metastatic malignancy on computed tomography and FDG-PET.

A Case of Multifocal Tuberculosis Mimicking Metastatic Malignancy / 결핵및호흡기질환

Tuberculosis remains as a major public health problem worldwide. In addition to classic pulmonary tuberculosis, tuberculosis may sometimes present atypically. In the case of atypical tuberculosis, the unusual sites and properties that mimic other diseases can lead to a misdiagnosis and therapeutic delay. Abdominal and pharyngeal tuberculosis are uncommon extrapulmonary manifestations of tuberculosis. To the best of our knowledge, a combination of abdominal and pharyngeal tuberculosis with endobronchial tuberculosis has not been reported. We report a case of concurrent abdominal and pharyngeal tuberculosis in a patient with chronic endobronchial tuberculosis mimicking a metastatic malignancy on computed tomography and FDG-PET.

A Case of Retroperitoneal Mass in Infancy, Fetus in Fetus / 대한산부인과학회잡지

"Fetus in fetus" is a rare pathologic feature consisting of a parasitic twin included within the body of the other twin, which most likely arises from inclusion of a monozygotic, diamniotic twin pregnancy. The exact embryogenesis of fetus in fetus is controversial. Some investigators propose that it is a highly organized teratoma. Since the condition was first described by Meckel in the late 18th centry, approximately 100 cases have been reported in the literature. Most cases present as an abdominal mass during the first year of life, with a few cases being detected prenatally by ultrasound examination. So we report one case of fetus in fetus detected by ultrasound examination prenatally.

Relationship between Genetic Polymorphisms of the Gltathione S-transferase and Endometriosis Susceptibility in Korean Populations / 대한산부인과학회잡지

OBJECTIVE: The aim of this study was to examine whether polymorphic variation in GSTs confers susceptibility to Endometriosis in Korean populations. METHODS: The GSTM1, GSTT1, and GSTP1 genotypes were determined in 124 patients with Endometriosis (stage 3, 4) and 155 healthy control subjects at Ewha woman's university Mok-dong hospital from 1996 to 2003. RESULTS: The homozygous wild allele in GSTP1 gene was most common genotypes both Endometriosis and healthy control groups (69.4% vs. 64.5%). Neither the heterozygous nor homozygous mutant allele in GSTP1 gene differed in frequency between the two groups (30.6% vs 35.5%). When null mutations in GSTM1, GSTT1 were combined with GSTP1 polymorphism, there was no evidence of increase in the risk of endometriosis, as the number of high risk alleles of the GST family increased. CONCLUSION: Our findings suggest that GSTP1 genetic polymorphism may not be associated with development of Endometriosis in Korean populations. There is no evidence of a trend in increasing risk with the number of putative high risk alleles of the GST family carried.

Pulmonary Tuberculosis Mimicking Pneumonia on CT : Retrospective Analysis of Clinical and CT Features / 결핵

BACKGROUND: A CT scan is a useful modality for the diagnosis and evaluation of disease activity in patients with pulmonary tuberculosis. However, the CT diagnosis of pulmonary tuberculosis is sometimes difficult in patients with an atypical CT pattern, especially with lobar consolidation mimicking pneumonia. The aim of this study was to evaluate the clinical and CT features of pulmonary tuberculosis, simulating pneumonia, from a CT scan. MATERIALS AND METHODS: The clinical and CT features in 21 patients, where the CT diagnosis was pneumonia, or the CT differential diagnosis included pneumonia, were retrospectively analyzed. RESULTS: Of the 21 patients, 6 were immunocompromised, 15 presented with fever or leukocytosis and 15 showed positive sputum smear test for acid fast bacilli. Also, 17 of the 21 patients showed a positive sputum culture test. On the CT scan, consolidation was noted in all patients (100%), volume loss of the involved lobe or segment in 12 (57%), bronchogenic spread in 15 (71%), a cavity in 7 (33%) and bronchial wall thickening also in 7 (33%). The location of the consolidation revealed a relatively even distribution, with no specific predilection site. The other associated pulmonary diseases included ARDS, bronchiectasis, severe pulmonary emphysema, idiopathic pulmonary fibrosis and pulmonary alveolar proteinosis. CONCLUSION: In the immunocompromised patients, or patients with an underlying pulmonary disease, whose CT scans showed pulmonary consolidation, especially in association with findings of bronchogenic spread, a cavity or bronchial wall thickening, meticulous examination for pulmonary tuberculosis is recommended.

Association Studies of the Relationship Between Endometriosis and Polymorphism of the Detoxification Enzymes GSTT1, GSTM1, and CYP1A1 / 대한산부인과학회잡지

OBJECTIVE: Enzymes belonging to the Glutathione S transferase and cytochrome P450 families are involved in the two-stage detoxification process of a number of pro-carcinogens. We genotyped each 74 women with moderate or severe endometriosis and a control group of 93 women with a normal pelvis at cesarian section to investigate whether genetic polymorphism of CYP1A1, GSTT1, and GSTM1 are associated with endometriosis. MATERIALS AND METHODS: We investigate 74 women who were operated for endometriosis and 93 women who had no endometriotic lesion proved by operation. Polymerase chain reaction (PCR) and restriction fragment length polymorphism of PCR was done to determine each participant's genotype. RESULTS: We have found no significant differences between cases and controls in the frequencies of the GSTM1 and GSTT1 null mutations, or of the CYP1A1 MspI polymorphism does not differ significantly between groups. When GSTT1 and GSTM1 null mutation was combined with CYP1A1 MspI polymorphism, there was no significant differences between groups, either. CONCLUSION: Therefore, These low penetrance genes are not associated with increased susceptibility to endometriosis. Further studies are warranted to identify major susceptibility gene (s) and the mechanism involved in endometriosis to assist in the development of better methods for early detection, diagnosis and prevention.

Poorly Differentiated Endometrial Adenocarcinoma with Trophoblastic Differentiation / 대한산부인과학회잡지

Trophoblastic differentiation in gynecologic nontrophoblastic tumor is very rare. Here we present a 66-year-old female with poorly differentiated endometrial carcinoma showing trophoblast-like differentiation. This tumor was in advanced stage with metastases to lung, liver, and bone at diagnosis. The multinucleated, syncytiotrophoblast-like cells were positive for beta-human chorionic gonadotropin (beta-hCG) by immunochemical stain. The level of beta-hCG was also elevated (219 mIU/ml) in the patient's serum, but dropped after surgery and chemotherapy. beta-hCG may be used as tumor marker in this case.

A relationship between polymorphism of estrogen receptor gene and bone mineral density in premenopausal Korean women / 대한산부인과학회잡지

OBJECTIVE: The goal of this study was to determine the relationship between peak bone density and polymorphism of estrogen receptor gene in Korean premenopausal women. METHOD: We amplified Estrogen receptor by polymerase chain reaction and its digestion pattern of Pvu II and Xba I was examined from the 172 women who were in premenopause. The genetic subtype was classified by its digestion pattern and its combination genotype, e.g. PP, Pp, pp, XX, Xx, xx, PPXX, PPXx, PPxx, PpXx, Ppxx, xxpp. Bone mineral density of each genetic subtype were compared. RESULTS: The genotype distribution was as follows: PP; 16.3%, Pp; 45.9%, pp; 37.8%, XX; 1.2%, Xx; 25.0%, xx; 73.8%, PPXX; 1.1%, PPXx; 8.7%, PPxx; 6.4%, PpXx; 16.3%, Ppxx; 29.7%, ppxx; 37.8%. ER gene polymorphism was associated with bone mineral density at forearm bone mineral density (P<0.05) with the xx genotype having the less BMD than Xx genotype. CONCLUSION: Xba I estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women. Estrogen receptor gene polymorphism may have a modulatory role in bone metabolism in premenopausal women. And it can be used as predictor of forearm peak bone density.