Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

Hemoperitoneum: a complication of loop electrosurgical excision procedure

Loop electrosurgical excision procedure (LEEP) is commonly performed for the management of cervical intraepithelial neoplasia. Although LEEP is considered to be a relatively simple procedure, several unexpected complications have been reported in the literature. Herein, we report a case of hemoperitoneum caused by uterine perforation following LEEP. Blood collection in pelvic cavity and two small defects of the uterus were confirmed by diagnostic laparoscopy. The defects were sutured and the patient recovered well after the operation.

Clear Cell Adenocarcinoma Originated from Adenomyosis / 이화의대지

A 66-year-old postmenopausal woman received routine gynecologic check-up. Transvaginal ultrasonography and abdominal and pelvic computed tomography showed about 5-cm cystic mass in uterus with solid component and the patient had thin endometrium and the serum level of CA 125 was normal. We performed a total hysterectomy and bilateral salpingo-oophorectomy and found tumor which had brownish cystic fluid and about 2 cm sized and colored in light yellowish, polypoid protruding solid mass, located within the myometrial wall. Histopathological examination of frozen section revealed malignancy. The tumor was confined within the myometrium and its histologic type was clear cell adenocarcinoma. Finally we identified that the myometrial mass was clear cell adenocarcinoma originated from adenomyosis pathologically. The malignant transformation of adenomyosis is very rare. When we find a cystic change with solid component in adenomyosis patients, clear cell adenocarcinoma should be suspected as a differential diagnosis and magnetic resonance imaging should be considered for further evaluation.

Risk Factors for Preterm Birth in Advanced Maternal Age

PURPOSE: To identify the potential risk factors for preterm birth (PTB) in women with advanced maternal age in the Korean population. METHODS: We selected the data of 531 pregnant women and singletons in the Korean Preterm Collaborate Network Study. Among the data, we analyzed variables related to demographic characteristics, lifestyle factors, and delivery information. Maternal age was divided into two groups: younger ( < 35 years) and advanced (≥35 years). Multiple logistic regression analysis was performed to identify the potential risk factors for PTB in advanced maternal age. RESULTS: In advanced maternal age, education level, occupation, passive smoking, iron intake, and parity showed significant differences between term birth and PTB. In particular, women who were exposed to passive smoking (odds ratio [OR]=2.83, confidence interval [CI]=1.14~7.04) and had folic acid intake during pregnancy (OR=2.67, CI=1.11~6.43) were at a significantly increased risk of PTB, after adjusting for all variables. CONCLUSION: This study indicates that smoking and lifestyle factors are the potential risk factors for PTB in advanced maternal age.