Shu-Chin Chien

The use of misoprostol in termination of second-trimester pregnancy

Misoprostol, a synthetic prostaglandin E1 analog, is initially used to prevent peptic ulcer. The initial US Food and Drug Administration-approved indication in the product labeling is the treatment and prevention of intestinal ulcer disease resulting from nonsteroidal anti-inflammatory drugs use. In recent two decades, misoprostol has approved to be an effective agent for termination of pregnancy in various gestation, cervical ripening, labor induction in term pregnancy, and possible management of postpartum hemorrhage. For the termination of second-trimester pregnancy using the combination of mifepristone and misoprostol seems to have the highest efficacy and the shortest time interval of abortion. When mifepristone is not available, misoprostol alone is a good alternative. Misoprostol, 400 μg given vaginally every 3-6 hours, is probably the optimal regimen for second-trimester abortion. More than 800 μg of misoprostol is likely to have more side effects, especially diarrhea. Although misoprostol can be used in women with scarred uterus for termination of second-trimester pregnancy, it is recommended that women with a scarred uterus should receive lower doses and do not double the dose if there is no initial response. It is also important for us to recognize the associated teratogenic effects of misoprostol and thorough consultation before prescribing this medication to patients regarding these risks, especially when failure of abortion occurs, is needed.

HEMATOCOLPOMETRA ASSOCIATED WITH AN IMPERFORATE HYMEN AND ACUTE URINARY RETENTION MIMICKING A PELVIC MASS

A 12-year-old female was previously sent to the emergency department because of a sudden onset of lower abdominal pain and the difficulty of micturition. The abdominal pain persisted following urinary catheterization of 900 mL of retained urine. Thereafter, she consulted our gynecologic department. The patient was unmarried and had no sexual experience. She had not had any medical problems, operations or menstruation. During the visit, examination of the external genitalia was not made because of her young age. Ultrasonographic examination revealed a central echolucent cystic pelvic mass of about 8.3 × 6.8 cm (Figure 1). The CA-125 level was 1,049.10 U/mL (normal, < 35 U/mL). Videolaparoscopy was performed and demonstrated bilateral normal ovaries, an enlarged corpus, severe pelvic endometriosis, and a small amount of intraperitoneal blood (Figure 2). Hematocolpometra was diagnosed. Subsequent perineal examination confirmed a bluish bulging imperforate hymen. Lysis of adhesion, cautery of the endometriosis, and removal of the blood in the pelvic and abdominal cavities were performed by laparoscopy. The patient did well after the operation. Hematocolpometra associated with imperforate hymen and acute urinary retention is uncommon. Chuang and Kan [1] demonstrated the compressive effect of hematocolpometra to the urinary outlet by computerized tomography scans. Sondgrass [2] first reported a case of acute urinary retention associated with hematocolpometra in 1931. To date, at least 22 cases of imperforate hymen with acute urinary retention have been reported [2–19]. Most of these reported cases presented in adolescence (average age, 13 years). The youngest patient was a 3-month-old girl who had suffered from repeated urinary tract infections because of urinary retention related to pyocolpos [12]. Most cases had abnormal external genitalia in additional to a chief complaint of urinary retention. A few cases had delayed diagnosis of the associated genital abnormalities because of the focus on the management of abnormal urinary tract dilation and urinary tract infection [6,12,19]. Two out of the 22 cases had concomitant urologic abnormality such as contralateral renal agenesis [7], or genetic disorder such as ectrodactylyectodermal dysplasia-clefting syndrome [16]. All cases had an uneventful recovery after surgical treatment. The present case describes a 12-year-old adolescent female who was initially sent to the emergency department with the chief complaints of acute abdominal pain and urinary retention. She received only conservative management with urinary catheterization to relieve the urinary symptoms. A pelvic mass was additionally found using ultrasonography. However, the exact etiology of HEMATOCOLPOMETRA ASSOCIATED WITH AN IMPERFORATE HYMEN AND ACUTE URINARY RETENTION MIMICKING A PELVIC MASS

Prenatal Sonographic Features of Pallister-Killian Syndrome

Pallister-Killian syndrome (PKS), which is characterized by mental retardation, seizures, pigmentary skin lesions and dysmorphic facial features, is a rare chromosomal anomaly with the mosaic presence of an extra tissue-specific isochromosome 12p (mosaic tetrasomy 12p). Advanced maternal age is believed to be a risk factor for PKS. Ultrasound is a useful tool in the prenatal detection of characteristic findings associated with PKS. This article provides an overview of the prenatal sonographic features of PKS, including congenital diaphragmatic hernia, polyhydramnios, abnormal extremities, increased nuchal translucency or nuchal edema, cardiovascular anomalies, central nervous system anomalies, an abnormal facial profile, and other rare anomalies. Appropriate tissue samples and laboratory analytic techniques should be selected for an accurate prenatal diagnosis because of the instability of isochromosome 12p and the potentially incorrect interpretation as tetrasomy 21q on the traditional G-banded technique. Fryns syndrome, which has phenotypic overlap with PKS, is also discussed. Increasing awareness and knowledge of various anomalies of PKS on prenatal ultrasound would be helpful for the early detection of PKS. Definite diagnosis of fetuses with PKS could help clinical physicians in the decisionmaking process during the prenatal or postnatal periods.

Spontaneous rupture of omental teratoma mimicking a ruptured ovarian teratoma.

A 35-year-old woman, gravida 0, was sent to our emergency department because of progressive upper abdominal pain for several days. She had developed upper abdominal pain and distension for weeks. She denied other associated gastrointestinal and gynecologic symptoms or weight loss. Her menstrual cycle was normal, and there was no history of trauma or accident. Pelvic and abdominal examinations revealed a huge, mobile and tender mass with muscle rigidity and rebounding tenderness. A huge pelvic complex mass with moderate amount of ascites was found on transabdominal ultrasound scan. Plain abdominal X-ray finding was suggestive of ileus. Computed tomography scan demonstrated a large heterogeneous and multiloculated complex mass measuring up to 15 cm, with focal areas of soft tissue, fat and calcification in the peritoneal cavity. Ascites and diffuse mesentery infiltration with calcified foci were also found (Figure 1). Preoperative laboratory assessment showed only leukocytosis (white blood cells, 13,660/μL; 1% band, 74% neutrophil; hemoglobin, 13.6 g/dL). Measurement of serum tumor markers revealed the following: CA-125, 70 U/mL (normal value, <35U/ mL); α-fetoprotein, < 2.76 ng/mL (normal value, < 6.00 ng/mL); and β-hCG, < 5 mIU/mL (normal value, <5 mIU/mL). Emergent laparotomy was performed with a lower midline incision owing to suspicion of a ruptured ovarian teratoma with intra-abdominal peritonitis. At laparotomy, a huge and irregular-shaped tumor attached to the greater omentum was found (Figure 2). Diffuse small white implants at the intestine and mesentery, severe adhesions, along with moderate amount of ascites were noted. The uterus, right fallopian tube, and both ovaries were normal. Left hydrosalpinx was also observed. Frozen section showed a mature omental teratoma. The tumor was then removed smoothly. Microscopic examinations revealed contents of skin, adipose tissue, thyroid gland, bone and hollow organ-like structures, thus confirming the diagnosis of a mature teratoma. The patient made an uneventful recovery and was discharged on the seventh postoperative day. No tumor recurrence was detected on ultrasound scan over a 4-year follow-up period. SPONTANEOUS RUPTURE OF OMENTAL TERATOMA MIMICKING A RUPTURED OVARIAN TERATOMA

Prenatal Sonographic Features of 22q11.2 Microdeletion Syndrome

Fetuses with 22q11.2 microdeletions (del22q11.2) have variable clinical expressions. Associated congenital anomalies include cardiac defects, abnormal facies, thymic hypoplasia or aplasia, velopharyngeal insufficiency, cleft palate, hypocalcaemia due to parathyroid aplasia or hypoplasia, and learning disability. Statistically, most cases are sporadic and only about 8% are inherited. The microdeletion can be easily diagnosed with fluorescence in situ hybridization or molecular analysis of fetal cells, but there is lack of definite indications for the prenatal diagnosis of sporadic cases with del22q11.2. Currently, ultrasound is viewed as a valuable tool in the detection of sporadic cases of del22q11.2 syndrome. This article provides an overview of the prenatal sonographic features of del22q11.2 syndrome, including cardiovascular abnormalities, thymic hypoplasia or aplasia, intrauterine growth restriction, urinary abnormalities, increased nuchal translucency thickness, and abnormal amniotic fluid levels. Among these abnormalities, prenatal cardiac involvement is a prominent feature, especially conotruncal cardiac defects. The additional visualization of fetal thymus and detection of intrauterine growth restriction on obstetric ultrasound can enhance the detection rate of del22q11.2. Prenatal testing for 22q11.2 deletion should therefore be considered when a conotruncal cardiac defect accompanying other associated abnormalities are detected on prenatal ultrasound. Owing to the phenotypic diversity of 22q11.2 microdeletion syndrome, increasing awareness and knowledge of fetal abnormalities on prenatal ultrasound will be helpful in the prenatal detection of del22q11.2. Early diagnosis of fetuses with del22q11.2 could help obstetricians, surgeons, pediatric cardiologists and geneticists in the decision-making process for prenatal, perinatal or postnatal care.

Prenatal Sonographic Features of Triploidy

Fetuses with triploidy tend to die in early pregnancy, with few surviving to term. The survivors are profoundly growth-restricted and severely malformed and often die within a few days of birth. Triploid fetuses clinically exhibit a wide spectrum of sonographically detectable abnormalities. This article provides an overview of the common sonographic abnormalities of triploid fetuses, including extra-fetal anomalies (such as an enlarged and cystic placenta, oligohydramnios, and enlarged maternal ovaries with multicystic change) and fetal structural anomalies (such as intrauterine growth restriction, increased fetal nuchal translucency thickness, central nervous system anomalies, facial anomalies, genitourinary anomalies, cardiac anomalies, gastrointestinal anomalies, and limb defects). Recognition of these different sonographic features is useful in predicting the parental origin of triploidy. Clinically, several diseases that have a phenotypic overlap with triploidy include complete mole with a coexistent fetus in dizygotic twins, a normal fetus with placental mesenchymal dysplasia, trisomies 13 and 18, and Neu-Laxova syndrome. Because of the serious and lethal birth defects, prenatal ultrasound is a valuable tool in detecting the variety of extra-fetal and fetal structural malformations associated with triploidy throughout gestation; prenatal recognition of these sonographic features is of great help in early karyotypic confirmation, enabling appropriate genetic counseling and reasonable obstetric treatment.

Prenatal Sonographic Features of Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome, characterized by macrosomia, macroglossia, organomegaly, abdominal wall defects, hemihy-pertrophy, ear creases/pits, neonatal hypoglycemia, adrenocortical cytomegaly, abdominal wall defects, and an increased frequency of embryonal tumors. It is known to be the result of genetic and epigenetic alterations on chromosome 11p15.5. Most of the affected cases are diagnosed after birth and it is difficult to diagnose prenatally. Currently, ultrasound is viewed as a useful tool in the prenatal detection of affected cases. This article provides an overview of the prenatal sonographic features of BWS, including polyhydram-nios, macrosomia, macroglossia, omphalocele, an enlarged placenta, urinary anomalies, gastrointestinal anomalies, fetal hydrops and other rare anomalies. Several diseases may have phenotypic overlaps with BWS including Sotos syndrome, Weaver syndrome, Simpson-Golabi-Behmel syndrome, diabetes in pregnancy complicated with macrosomia, and infantile polycystic kidney disease. Increasing awareness and knowledge of various fetal malformations of BWS on prenatal ultrasound will be helpful in the early detection throughout the gestation. Prenatal diagnosis of fetuses with BWS could help obstetricians and pediatricians in the decision-making process for prenatal, perinatal and postnatal care.

TORSION OF A HUGE OVARIAN CYST IN A 90-YEAR-OLD WOMAN

A 90-year-old Taiwanese woman, para 8, was admitted to the emergency department with complaints of mild abdominal pain and constipation for 2 days but with no nausea, vomiting or recent weight loss. An enlarging lower abdominal mass had been present for approximately 1 year. The patient denied any prior abdominal operations, and her past medical history was unremarkable except for hypertension treated with an oral β-blocker. Upon arrival to the emergency department, she was afebrile but tachycardic with a pulse of 132 beats/minute and a blood pressure of 150/90 mmHg. The abdomen was soft with normoactive bowel sounds. Physical examination revealed a palpable and mobile lower abdominal mass protruding from the subumbilical to suprapubic area. White blood cell count was 7,400/mL with a normal differential count. Computed tomography of the abdomen was performed and revealed a large cystic mass with solid component and two calcified spots, which was thought to represent a malignant ovarian neoplasm (Figure). Tumor markers including CEA and CA-125 were analyzed; CEA level was 1.9 ng/mL (normal serum level, < 5.00 ng/mL) and CA-125 level was 27.94 U/mL (normal serum level, < 35 U/mL). Findings using less invasive procedures including a colonoscopy and a cystoscopy were unremarkable, so an exploratory laparotomy was performed under general anesthesia. Surgery revealed that the right adnexa was well encapsulated and twisted with ischemic change; it measured 21 × 17 × 6 cm. A right salpingo-oophorectomy was performed. Pathologic examination of the ovary and fallopian tube showed a simple cyst with hemorrhage and infarction.

Rupture of Uterine Arteriovenous Malformation as a Cause of Severe Menorrhagia

Menorrhagia is a common disorder during the reproductive age. It often results from myometrial or endometrial lesions. Menorrhagia caused by uterine arteriovenous malformations (AVMs) is a rare but life-threatening event. The major presentation of uterine AVMs is characterized by painless, intermittent, abrupt and profuse vaginal bleeding that is usually refractory to medical treatment [1]. The appropriate management of AVMs relies considerably on accurate diagnosis [2]. In order to achieve a prompt diagnosis, it is essential to raise a clinical suspicion of uterine AVMs in patients with unaccountably intractable vaginal hemorrhage with specific bleeding characteristics. The patient was a 38-year-old woman, gravida 2, para 2 (via cesarean section twice). Her last cesarean delivery was twelve years prior to this presentation, and her menstrual cycle had been regular without any experience of excessive menstrual flow after the delivery. She came to the emergency department complaining of sudden intermittent, painless and profuse vaginal bleeding with blood clots on the seventh day of her period. Vaginal spotting was the only unusual sign shortly before the event. She denied having any underlying hematologic disorders or drug exposure such as hormonal therapy. Pelvic sonography showed thin endometrium without definite uterine tumors (Figure 1). On pelvic examination, the appearances of the uterine cervix and vagina were grossly normal without traumatic lesions or tumor formations. However, there was intermittent flow of blood gushing out from the endocervical canal, and the amount of blood loss was approximately 500 mL within minutes. Results of coagulation studies were within normal limits, and urine β-hCG test was negative. Immediate hemodynamic resuscitation was done, with intravenous fluids supplement and blood component therapy. The hemorrhage was not responsive to intravenous medicines such as transamines (oxytocin) and uterotonics (methylergonovine). Subsequently, uterine tamponade with a Foley balloon was performed, and the bleeding gradually decreased. Eleven hours after the balloon tamponade, she experienced a gush of profuse vaginal bleeding again. As uterine AVMs were suspected, pelvic angiography was recommended for further diagnosis and treatment; however, the patient refused. Finally, the couple opted for surgical hysterectomy to avoid the possible failure of conservative treatment. Gross examination of the uterine cavity revealed one small vascular clump with laceration at the right isthmus (Figure 2A), and a well-defined hemorrhagic lesion was found at the isthmus of the formalin-fixed uterine wall (Figure 2B). Microscopic examination of the right isthmus showed dilated and tortuous vessels with mixed thick and thin vascular walls, which was consistent with uterine AVMs (Figure 3). The hospital course of the patient before the hysterectomy is summarized in the Table. The postoperative course was uneventful, and she was discharged on the fourth postoperative day. During her hospitalization, she was transfused with

Chromosomal deletions detected at amniocentesis

OBJECTIVE The aim of this study is to present the incidence, prenatal and postnatal findings, and modes of ascertainment in chromosomal deletions detected at amniocentesis. MATERIALS AND METHODS We reviewed all the cases with chromosomal deletions, which were detected by amniocentesis in Mackay Memorial Hospital, Taipei, Taiwan, between January 1987 and December 2012. Data on the locations and types of deletion, reasons for performing amniocentesis, maternal age, gestational age at amniocentesis, fetal karyotypes, inheritance of deletions, and relative prenatal findings were collected. RESULTS Amniocentesis was performed in 33,305 cases within this period of time. Among these, 31 cases of chromosomal deletions were considered for the study. The mean gestational age at amniocentesis was 21.0 weeks (range from 15 weeks to 32 weeks) and the mean maternal age at amniocentesis was 32.1 years (range from 26 years to 37 years). Nineteen cases (61.3%) manifested fetal structural abnormalities on ultrasound, nine (29.0%) presented no ultrasound abnormalities, and three had an unknown status. The main modes of ascertainment included abnormal ultrasound findings in 10 cases (32.2%), advanced maternal age in 11 cases (35.5%), abnormal maternal serum screening results in six cases (19.6%), and other reasons in four cases (13.0%). Of the 27 cases with known inheritance, the deletion was inherited in two (6.6%) and de novo in 25 (92.6%). Males accounted for 11 (35.5%) and females for 20 (64.5%) cases. Chromosomal deletions are more often to occur in chromosomal 5(4 cases, 12.9%), chromosomal 18 (4 cases, 12.9%), chromosomal 4 (3 cases, 9.7%), chromosomal 7 (3 cases, 9.7%), chromosomal 10 (3 cases, 9.7%), chromosomal 11 (3 cases, 9.7%), and chromosomal 1 (2 cases, 6.5%). There were four cases of chromosomal mosaicism: two involved chromosome 5, one involved chromosome 10, and one involved chromosome 18. Twenty-three cases (74.2%) had terminal deletions and the other eight cases (26.7%) had interstitial-type deletions. CONCLUSION In summary, we have presented the results of prenatal diagnosis for chromosomal deletions using amniocentesis. Chromosomal deletions are more likely to occur in females and more often in chromosomal 5p and 18q. Prenatal diagnosis at amniocentesis is frequently associated with advanced maternal age, abnormal ultrasound findings, and abnormal maternal serum screening. The frequency of ascertainment in chromosome deletion seems to be directly correlated with advanced maternal age and abnormal ultrasound findings. In cases with terminal deletions, prenatal ultrasound plays a more important role for prenatal diagnosis.