Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study.

BACKGROUND: Next-generation sequencing (NGS) and discovery of fetal cell-free DNA (cfDNA) in the maternal circulation render possible prenatal screening for trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. The approach is called "fetal cfDNA screening" and in contrast to noninvasive conventional serum screening, it provides the identification of 98%-99% of fetuses with Down syndrome. METHODS: Retrospective analysis of targeted noninvasive prenatal testing (NIPT) (Clarigo Test) pregnancies with moderate risk, which we have reported between 2016 and 2018 years is presented. Two separate laboratory workflows and NGS platforms are used for the same targeted NIPT analysis. RESULTS: In total, 4,594 pregnant women were investigated. Initial 3,594 cases are studied by MiSeq platform, the last 1,000 cases by NextSeq. Failure rate for MiSeq platform is 10.9% and for NextSeq is 8.7%. Automatically reported cases constitute 75% of the MiSeq group and 87% of the NextSeq group. CONCLUSIONS: Targeted NIPT results suggest that MiSeq platform could be used for NIPT which would be an essential option particularly for laboratories with low sample flow. And, the NextSeq platform has easier wet lab process and also increased success rate in automatic reporting which is suitable for centers with high number of NIPT cases.

Cigarette Smoking Affects Uterine Receptivity Markers.

OBJECTIVE: Smoking negatively affects fertility and the rate of other endometrial diseases. To determine the effect of smoking on endometrial physiology, we evaluated 2 endometrial regulatory cytokines and receptivity markers, C-X-C motif chemokine ligand 12 (CXCL12) and fibroblast growth factor 2 (FGF2), both in vitro and in vivo. STUDY DESIGN: The human endometrial stromal cell line (HESC) and primary human endometrial stromal cells were treated with cigarette smoking extract (CSE) or with vehicle control. Twenty female mice were randomly assigned to either cigarette smoke (CS) exposure for 8 weeks or to a nonsmoke (NS) group that received room air. Immunohistochemical analysis of CXCL12 and FGF2 expression was performed in mouse uterine tissue. Human endometrial samples were obtained from both nonsmokers and smokers. Real-time reverse transcription-polymerase chain reaction was performed for all cell cultures and human samples. RESULTS: Compared to controls, CXCL12 and FGF2 mRNA expression were significantly decreased in CSE-exposed HESC and primary cells. In mice, immunohistochemical analysis showed that both CXCL12 and FGF2 protein expression was lower in the CS group compared to controls. Similarly, both CXCL12 and FGF2 expression were decreased in women who smoke compared to nonsmokers. CONCLUSION: Decreased endometrial CXCL12 and FGF2 expression contribute to the impaired endometrial receptivity in women who smoke. Smoking is also associated with decreased rates of endometrial cancer and endometriosis; increased CXCL12 and FGF2 are implicated in both conditions. The changes in the expression of cytokines described here may explain the impact of smoking on all of these diseases. Tobacco has direct effects on normal endometrium that impacts endometrial health and disease.

Methotrexate treatment in progressive tubal ectopic pregnancies and hCG-related clinicosurgical implications.

Our aim was to evaluate the relationship between the success of methotrexate treatment and ß-hCG levels in progressive tubal ectopic pregnancies. We defined a retrospective cohort of 394 progressive tubal ectopic pregnancy patients treated with methotrexate. A single-dose methotrexate protocol using 50 mg/m(2) was administered to patients with progressive tubal ectopic pregnancy. Surgery was performed in patients who exhibited signs of acute abdomen due to tubal rupture. Of 394 patients that received methotrexate treatment, 335 (84.6%) responded to medical treatment, while the remaining 59 (15.36%) underwent surgery due to treatment failure. ß-hCG levels in the failure group were significantly higher as compared with the success group at Day 1, Day 4, and Day 7 (2116±3157 vs. 4178±3422, 2062±3551 vs. 4935±4103, and 1532±3007 vs. 3900±4783, respectively). The receiver operating characteristics curve for ß-hCG levels at Day 1 was 0.738, with a cutoff value of 1418 mIU/mL, while sensitivity and specificity values reached the optimum for treatment success (83.1% and 59.4%, respectively). Medical treatment with methotrexate achieved an 85.02% success rate for the treatment of progressive tubal ectopic pregnancy, while success rates for medical treatment decreased significantly when initial ß-hCG levels were >1418 mIU/mL.

Functional outcomes of polypropylene midurethral sling resection for treatment of mesh exposure/extrusion: Does it lead to a relapse of incontinence?

OBJECTIVES: The Burch colposuspension, which was regarded as the gold standard treatment for stress urinary incontinence for several years, has been replaced by minimally invasive sling devices. Although these procedures are simple and minimally invasive, they are associated with complications such as infection, mesh erosion, chronic pain, and de novo detrusor overactivity, which may necessitate surgical resection or tape removal. The aim of the study was to assess urinary function outcomes including continence, after partial resection of suburethral tapes. MATERIAL AND METHODS: Patients were admitted for resection of tape due to extrusion/exposure, between 2011 and 2014. Patients were evaluated with physical examination, transvaginal ultrasound, cough stress test, 24-hour bladder diary, Incontinence Impact Questionnairre-7 form and Urogenital Distress Inventory-6 form. RESULTS: Minimum follow-up time was 2 months after treatment of the tape complication (mean 20, range 2 to 38). Recurrence of incontinence after partial tape resection was observed in 9% (3/32) cases. In two patients due to stress urinary incontinence recurrence repeat anti-incontinence surgery was necessary. Although one patient had suffered from incontinence after resection of tape, she did not desire operation. CONCLUSIONS: The results of this study indicated that preservation of the anti-incontinence effects of slings might not be dependent on the intactness of the sling. Recurrence of incontinence after partial tape resection is uncommon and in the majority of cases this stress incontinence is minimally and does not require repeat operation.

Prevalence of congenital toxoplasmosis among a series of Turkish women.

BACKGROUND: Toxoplasma gondii infection during pregnancy causes congenital malformations. Pregnant women should be screened for this infection since it is preventable and treatable. AIM: To study the sero prevalence of Toxoplasma gondii infection among pregnant women living in lzmir, Turkey. MATERIAL AND METHODS: A blood sample was obtained from 4651 women aged between 15 and 45 years, during their first trimester of pregnancy. IgM and IgG antibodies against Toxoplasma gondii were measured using an ELISA assay. Among women with both IgG and IgM antibodies positive, an IgG avidity test was performed, using a VIDAS kit. RESULTS: IgG antibodies were positive in 1871 (39.9%) participants. Of these, 48 (2.5%) also had positive IgM antibodies. In 41 of these 48 women, the IgG avidity test was performed and only one woman had a low avidity. This woman was treated with Spiramycin. Her offspring had an intrauterine growth retardation and oligohydramnios. A chorioretinitis was diagnosed in the offspring of other woman with both antibodies positive. CONCLUSIONS: In this series, the prevalence of congenital toxoplasmosis was low. However, women with positive antibodies against Toxoplasma Gondii should be further studied and followed during their pregnancy.

Prevalence of congenital toxoplasmosis among a series of Turkish women / Prevalencia de toxoplasmosis congénita en una serie de mujeres en Turquía

Background: Toxoplasma gondii infection during pregnancy causes congenital malformations. Pregnant women should be screened for this infection since it is preventable and treatable. Aim: To study the sero prevalence of Toxoplasma gondii infection among pregnant women living in lzmir, Turkey. Material and Methods: A blood sample was obtained from 4651 women aged between 15 and 45years, during their first trimester of pregnancy. IgM and IgG antibodies against Toxoplasma gondii were measured using an ELISA assay. Among women with both IgG and IgM antibodies positive, an IgG avidity test was performed, using a VIDAS kit. Results: IgG antibodies were positive in 1871 (39.9%) participants. Of these, 48 (2.5%) also had positive IgM antibodies. In 41 ofthese 48 women, the IgG avidity test was performed and only one woman had a low avidity. This woman was treated with Spiramycin. Her offspring had an intrauterine growth retardation and oligohydramnios. A chorioretinitis was diagnosed in the offspring of other woman with both antibodies positive. Conclusions: In this series, the prevalence of congenital toxoplasmosis was low. However, women with positive antibodies against Toxoplasma Gondii should be further studied and followed during their pregnancy.

Antecedentes: La infección por Toxoplasma gondii durante el embarazo causa malformaciones congénitas. Se debe efectuar serologíapara esta infección en mujeres embarazadas ya que es prevenible y tratable. Objetivo: Estudiar la seroprevalencia de infección por Toxoplasma gondii en mujeres embarazadas que viven en Esmirna, Turquía. Material y Métodos: Se obtuvo una muestra de sangre en 4.651 mujeres cuyas edades fluctuaban entre 15 y 45, años, durante su primer trimestre de embarazo. Los anticuerpos IgM e IgG en contra de Toxoplasma gondii se midieron por ELISA. En mujeres que tenían anticuerpos IgG e IgM positivos, un ensayo de avidez de IgG se efectuó utilizando el kit VIDAS. Resultados: Los anticuerpos IgG fueron positivos en 1.871 participantes (39,9%). De estas, 48 (2,5%) también tenían anticuerpos IgM positivos. En 41 de estas 48 mujeres, se efectuó el test de avidez y sólo una tenía una baja avidez. Esta mujer se trató con espiramicina y su producto de concepción tuvo un retardo de crecimiento intrauterino y un oligohidroamnios. Una corioretinitis se diagnosticó en el producto de concepción de otra mujer con ambos anticuerpos positivos. Conclusiones: La seroprevalencia de toxoplasmosis congénita en esta serie de pacientes fue baja, sin embargo, las mujeres con anticuerpos positivos deben ser tratadas y seguidas.

Borderline ovarian tumors: a study of 100 cases from a Tertiary Care Hospital.

AIM OF THE STUDY: The purpose of the study was to evaluate patients with borderline ovarian tumors. MATERIAL AND METHODS: Clinical features, treatment and survival status of 100 patients with borderline ovarian tumors were retrospectively evaluated between 1998 and 2007. RESULTS: Patients' mean age was 37.75 years (range: 15-72); 22 of them were postmenopausal. Histopathological diagnoses were serous, mucinous, endometrioid and clear cell in 54%, 41%, 2% and 3% of the patients, respectively; 70 patients had stage IA disease, 8 were at stage IB, 16 at stage IC, 2 at stage IIIA, 3 at stage IIIB and 1 at stage IIIC. Restaging laparotomies were performed on 19 patients; fertility-sparing surgery was performed on 52 patients; 2 patients received chemotherapy because of advanced-stage disease. All patients are currently alive. The 5-year disease-free survival rate for 71 cases was 100%. CONCLUSIONS: Borderline ovarian tumors have excellent prognoses, and fertility-conserving surgery can be performed in young patients with early-stage disease.

High mean platelet volume, low-grade systemic coagulation, and fibrinolytic activation are associated with pre-term delivery and low APGAR score in intrahepatic cholestasis of pregnancy.

OBJECTIVES: This study was designed for evaluating coagulation parameters and low APGAR scores in pregnancies with intrahepatic cholestasis of pregnancy (ICP) vs. normal control pregnancies. METHODS: We carried out a prospective case-control study by enrolling 40 women with ICP at the third trimester of pregnancy and 40 pregnant women without ICP. RESULTS: Total bile acid levels (TBA), MPV, D-dimer, and umbilical artery systolic/diastolic ratio (UASDR) values were higher in women with ICP. Pregnancies complicated by low APGAR score exhibited significantly higher D-dimer levels than those of unimpaired fetal outcome in patients with ICP and control subjects. Levels of D-dimer were inversely correlated with 5'-Apgar score and positively associated with UASDR values in patients with ICP. Pregnancies that exhibited abnormal UASDR had higher total bile acid (TBA), D-dimer, MPV values and lesser 5'-Apgar score. In linear stepwise regression analyses, D-dimer independently and positively associated with UASDR, inversely associated with 5'-Apgar score in subjects with ICP; positively associated with mean platelet volume (MPV) values and inversely associated with 5'-Apgar score in all subjects. CONCLUSION: Patients with ICP had low-grade systemic coagulation and fibrinolytic activation as evidenced by elevated D-dimer, and also D-dimer is associated with lower APGAR scores in both ICP and all pregnancies. Increased D-dimer levels suggest that hematological parameters could be potentially used as indicators of risk factor for assessing low APGAR score in ICP.