Non-invasive prenatal diagnosis of fetal RhD by using free fetal DNA.

OBJECTIVE: Anti-D immunoglobulin is applied to all pregnant women having RhD incompatibility to prevent hemolytic disease of the newborn. The aim of this study is to determine fetal RhD status in the Rh incompatible pregnancies with an non-invasive technique; free fetal DNA isolation from maternal circulation. In the case of Rh incompatibility especially with a history of previous fetal anemia, it can be beneficial to know Rh status antenatally in terms of monitoring fetuses with Rh positive [RhD(+)] status consciously. MATERIALS AND METHODS: Total free DNA was isolated in 50 Rh negative [RhD(-)] pregnant women, who had RhD alloimmunisation with their husbands. The gene in isolated DNA was investigated with TagMan prob and real time PCR by using primers belonging to exon 7 of the RhD gene. RESULTS: The authors analyzed 50 RhD(-) women by using quantitative real time PCR technique. Five of them were RhD(-) and the rest of them were found to be RhD(+). After birth one of the infants who were analyzed as RhD(+) were found to be RhD(-). CONCLUSION: The detection of fetal RhD status by using a non-invasive method from maternal circulation was found to be possible. Assessing fetal RhD status non-invasively by using free fetal DNA in maternal blood will be cost-efficient, avoiding unnecessary indirect Coombs test and unnecessary Rhogam applications that is used in RH incompatible pregnancies. This study will throw a fresh light on prenatal diagnosis.

Intrauterine endometriotic cyst at the site of previous cesarean scar; scar endometriosis.

Uterine scar endometriosis is an extremely rare entitiy. As the surgical procedures of the uterus increases through time, scar endometriosis may be diagnosed more often in the future. A case of uterine scar endometriosis is presented with complaints of menstruation lasting one day with associated pelvic pain. When a cystic mass in the site of previous surgery is diagnosed, scar endometriosis must be considered.

Retinol-binding protein 4, as a negative acute-phase reactant in polycystic ovary syndrome.

AIM: The aim of our study was to compare serum levels of RBP4 in women with PCOS to the control group and to understand the relationship among RBP4 and biochemical and hormonal parameters related to disease process, especially gonadal steroids and markers of inflammation. METHODS: Twenty-eight women with PCOS (18 normal weight and 10 obese) and 27 normally menstruating healthy women (20 normal weight and 7 obese) were included. RESULTS: Women with PCOS had higher RBP4 concentrations. RBP4 levels correlated negatively with LDL, hsCRP and LH in women with PCOS and positively with BMI in the control group. When obese PCOS were compared to normal weight PCOS, increased CRP levels correlated negatively with RBP4 only in the normal weight PCOS group (normal PCOS r=-0.465, P=0.042; obese PCOS r=-0.505, P=0.137). Regression analysis of the effects of CRP and BMI on RBP4 levels revealed a statistically significant relationship between CRP and RBP4 independent of BMI. CONCLUSION: Serum RBP4 levels increased in women with PCOS and correlated negatively with CRP, LH and LDL. RBP4 probably acts as a negative acute phase reactant in normal weight PCOS. It cannot be used as a marker of chronic low grade inflammation in women with PCOS.

Retinol-binding protein 4 is elevated and is associated with free testosterone and TSH in postmenopausal women.

The aim of this study was to understand the relationship of retinol-binding protein 4 (RBP4) with hormonal and biochemical parameters in pre- and postmenopausal women. We included 69 postmenopausal women and 27 regularly menstruating premenopausal women. Postmenopausal women had statistically significantly higher RBP4 levels when compared to premenopausal women. RBP4 levels were negatively associated with free testosterone and positively associated with thyroid stimulating hormone in postmenopausal women. In premenopausal women RBP4 was positively associated with body mass index. RBP4 levels were increased in postmenopausal women. Although the mechanism is not clear, these findings suggest that RBP4 has a role in the regulation of hormonal and metabolic parameters.

Can quadruple test parameters predict SGA infants?

The aim of this study was to investigate the role of quadruple test parameters in predicting the risk of delivering a small for gestational age (SGA) infant. The quadruple test results of patients performed at 16-18 weeks of pregnancy were searched retrospectively. Alpha-fetoprotein (AFP) levels higher than 2 MoM were associated with a risk of delivering an SGA infant (p = 0.025), sensitivity 8%, specificity 98%, positive predictive value 25%, negative predictive value 91%. Other quadruple test parameters were not related to delivery of an SGA infant. The introduction of AFP as a screening test for the detection of SGA infants does not seem feasible, but we suggest clinicians take it into account when counselling the patients about the results of Down syndrome screening tests.

Endogenous sex hormones and their associations with cardiovascular risk factors in post-menopausal women.

AIMS: Our aim was to understand the relationship between endogenous sex hormones and cardiovascular disease (CVD) risk factors in post-menopausal women. MATERIALS AND METHODS: Eighty-three post-menopausal women from a previous prospectively designed study were included. We analyzed endogenous sex hormones and biochemical parameters. RESULTS: Levels of estradiol and free testosterone were higher in patients with metabolic syndrome. Estradiol correlated positively with interleukin-6 (IL-6), weight, body mass index (BMI), insulin, homocysteine, and homeostasis model assessment of insulin resistance (HOMA-IR). Free testosterone correlated positively with weight, waist circumference (WC), BMI, insulin, HOMA-IR and negatively with HDL and SHBG. DHEAS correlated only with HDL. FSH correlated negatively with age, weight, WC, hip circumference, BMI, systolic blood pressure, diastolic blood pressure, duration of menopause, fasting glucose, HDL, C-reactive protein, and insulin. LH correlated negatively with IL-6, age, WC, duration of menopause and SHBG. CONCLUSIONS: We identified endogenous estradiol and free testosterone as the strongest links to CVD risk. They can be used as biomarkers for CVD risk estimation.

Serum visfatin levels do not increase in post-menopausal women with metabolic syndrome.

BACKGROUND: The aim of this study was to determine the serum visfatin levels in post-menopausal (PM) women with and without metabolic syndrome (MS) and to understand the correlation between serum visfatin levels and various other hormonal and metabolic parameters. MATERIALS-METHODS: We conducted a prospective cross-sectional study including 17 PM women with MS and a control group of 51 PM women without MS. MS was defined according to the National Cholesterol Education Program Adult Treatment Panel III. RESULTS: Women with MS had statistically significantly higher fasting blood glucose, HDL, triglycerides, insulin, homeostasis model assessment of insulin resistance, and SHBG levels when compared to women without MS. Estradiol, high sensitivity C-reactive protein, and free testosterone levels were higher in the MS group, but there was no statistically significant difference between the two groups. Visfatin levels did not differ between the two groups. There was no correlation between serum visfatin levels and other parameters. CONCLUSIONS: There was no association between serum visfatin levels and MS in PM women.

Clinical importance of detection of bacterial vaginosis, trichomonas vaginalis, candida albicans and actinomyces in Papanicolaou smears.

OBJECTIVE: The aim of this study was to determine the role of Papanicolaou (pap) smears in the diagnosis of lower genital tract infections. MATERIALS AND METHODS: A retrospective study was planned by reviewing charts of patients for trichomonas vaginalis, bacterial vaginosis, actinomyces, candida and nonspecific vaginitis. RESULTS: Charts of 9,080 patients were reviewed and 1,733 women had a diagnosis of lower genital tract infection in the pap smear or had had a clinically treated lower genital tract infection. Only 33.5%, 30.4%, 43.3%, and 0% of patients with bacterial vaginosis, trichomonas vaginalis, candida and actinomyces, respectively on pap smear were diagnosed and treated clinically. Postmenopausal patients had a higher rate of trichomonas vaginalis infection and a lower rate of candida infection when compared to women of the reproductive age group. Patients using an intrauterine device for contraception had a statistically significantly increased rate of trichomonas vaginalis and candida infection when compared to women using other contraceptive methods or those who were not using any contraception. CONCLUSIONS: Finding trichomonas vaginalis, bacterial vaginosis and actinomyces infections in pap smears might be considered an indication for treatment without performing other diagnostic tests. Treatment of asymptomatic infections can prevent complications in selected patients. Candida can be a commensal bacteria in the vagina, therefore asymptomatic patients may not require treatment. Detection of a higher rate of trichomonas vaginalis and candida infection in IUD users shows that IUDs can increase the risk of vaginal infections and associated complications.

A short rib polydactyly syndrome overlapping both lethal and nonlethal types.

Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented at the 19th week of pregnancy for amniocentesis because of maternal age. During ultrasound pre-axial synpolydacytly, a short and ovoid tibia, nuchal edema, vertebral irregularities, hypoplastic thorax with short ribs and talipes were detected. All of the extremities were under the 5th percentile. Thorax-abdomen ratio was 0,56. The family was counselled for a diagnosis of lethal SRPS. After termination of pregnancy, radiological and histopathological examination allowed us to reach the diagnosis ofMajewski syndrome (SRPS type II). SRPSs are a continuous spectrum of both lethal and nonlethal forms. Prenatal diagnosis and termination depending on ultrasound findings should be done very precociously considering different phenotypic expressions, even in families previously affected by a lethal SRPS.

Lobular carcinoma of the breast metastasizing to leiomyoma in a patient under letrozole treatment.

Metastasis of extragenital neoplasms to the uterus is extremely rare. Lobular breast cancers metastasize to the uterus more than ductal carcinomas, but they metastasize as tiny nodules that can be missed with the standard diagnostic workup. Uterine involvement by a metastatic tumor is usually a manifestation of end-stage disease; patients are reported to die within weeks to months. Therefore surgery is not recommended. Here we report a case of lobular breast cancer metastasizing to a leiomyoma in a patient using letrozole. Our patient was submitted to surgery because the leiomyoma had grown to the level of the xiphoid process. She is alive one year after the operation. In conclusion growth of leiomyomas under aromatase inhibitors should be considered as a sign of metastases and surgery can be planned in selected cases.

Isolated tubal torsion in pregnancy--a rare case.

Isolated fallopian tube torsion is an uncommon cause of acute abdomen in pregnancy. Patients present with lower quadrant abdominal pain, and some have nausea and vomiting. There is no pathognomic diagnostic sign, so most patients are operated when it is too late to save the tube by detorsion alone. Here we present a case of isolated tubal torsion in a term pregnancy managed by salpingectomy and cesarean section simultaneously. As far as we know this will be the 20th case of reported isolated tubal torsion in pregnancy.

Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography.

Harlequin fetus is a rare and mostly fatal form of congenital ichthyosis that can be diagnosed by fetal skin biopsy in patients with a family history of the disease. More recently DNA analysis of amniocentesis and chorion villus sampling materials have also been utilized. We report a case of prenatally diagnosed congenital ichthyosis with no previous family history. Diagnosis was mainly achieved by 3D and 4D ultrasonography findings such as diffuse scaling of the skin, digital contractures, flattened rudimentary external ear, nasal hypoplasia, everted eyelids, typical fish mouth appearance, macroglossia, and persistently open fetal mouth.

Borderline micropapillary serous tumor of the ovary detected during a cesarean section due to a transabdominal cervico-isthmic cerclage in a patient with congenital cervical hypoplasia: a rare case.

A young woman with polycystic ovary syndrome and congenital cervical hypoplasia conceived with clomifen citrate treatment after placement of a transabdominal cervico-isthmic cerclage. Her pregnancy successfully reached term and cesarean section was performed to preserve the cerclage for the next pregnancy; when the ovaries were explored an irregular structure was detected on the left ovary. A wedge biopsy was done and the pathological assessment of the specimen was borderline micropapillary serous tumor of the ovary. The patient wanted to preserve her fertility, therefore a fertility-sparing staging surgery was performed six months after the cesarean section. There was no residual tumor in the left ovary, but there was a borderline tumor in the right ovarian biopsy specimen (frozen section was negative). Two months after staging surgery the patient conceived with IVF and delivered twins at the 33rd week of pregnancy with cesarean section. At her second cesarean section the right ovary and abdomen appeared normal on inspection, but the cerclage tape was in the endocervical canal and was thus removed. To our knowledge this is the second reported case of transabdominal cerclage tape migration into the endocervical canal. The patient is clinically disease-free 18 months after her second cesarean section. The clinical findings, treatment modalities, management and prognosis are discussed together with a literature review of a patient with a serous borderline ovarian tumor and congenital cervical hypoplasia.

Three fetuses karyotyped as Turner syndrome with cystic hygroma developing hydrops: prognosis and outcome.

INTRODUCTION: We present three cases of fetuses diagnosed as Turner syndrome with cystic hygroma (CH) developing hydrops to discuss the prenatal diagnostic and prognostic criteria of CH in ultrasound and outcome of the fetuses. CASES: The first case was 30-year-old pregnant woman with a nuchal translucency measurement of 8 mm at 12 weeks' gestation. Serial ultrasound examinations revealed non-septated cystic hygroma and hydrops. The pregnancy was terminated at the 18th week of gestation. Diagnosis of CH was made at 14 and 15 weeks of gestation in case 2 and case 3, respectively. Ultrasound revealed large cystic septated sacs in the nuchal area combined with serosal fluid collection and cutaneous edema. Spontaneous fetal demise occured at 21 and 16 weeks of gestation in cases 2 and 3, respectively. All fetuses were diagnosed as Turner syndrome.

Squamous cell carcinoma developing in a huge dermoid cyst of the ovary in an 80-year-old woman--case report.

A case of an 80-year-old patient with squamous cell carcinoma originating from a huge septated dermoid cyst of the right ovary is reported. There were bilateral dermoids in the patient. The tumor sizes were 30 x 40 x 20 cm and 4 x 3 x 5 cm in the right and left ovary, respectively, confirmed by ultrasound and computed tomography. Squamous cell carcinoma arose in the solid part of a huge dermoid cyst of the left ovary. Total abdominal hysterectomy and bilateral salpingo-oophorectomy, omentectomy and appendectomy were performed. The tumor was confined to the right ovary. The patient was categorized as FIGO Stage IA. She recovered uneventfully and there was no evidence of recurrence in the early-stage case during one year of follow-up. The clinical and pathological features, treatment modalities and prognosis of squamous cell carcinoma are described.