Value of cervicovaginal fluid cytokines in prediction of fetal inflammatory response syndrome in pregnancies complicated with preterm premature rupture of membranes (pPROM).

Background Preterm premature rupture of membranes (pPROM) is associated with a high risk of prematurity and complications of fetal inflammatory response syndrome (FIRS). The aim of the study is to determine any correlations between the concentration of selected cytokines contained in the cervicovaginal secretion eluates and in the umbilical cord plasma in patients with pPROM and to find the noninvasive markers of FIRS in order to pinpoint the optimal time of the delivery. Methods The study included 80 patients with pPROM between the 24th and 34th week of gestation. The cervicovaginal fluid and umbilical cord blood were collected. Interleukin 6 (IL-6), interleukin 10 (IL-10), interleukin 19 (IL-19) and tumor necrosis factor-α (TNF-α) concentrations were measured in both materials. For the statistical analysis, SigmaStat3.5 software was used. Results There was no direct association in levels of IL-6, TNF-α, IL-10 and IL-19 between the cord blood and cervicovaginal secretions within the studied group. The cut-off point of IL-6 of 26.8 pg/mL in the vaginal fluid had high sensitivity and specificity in order to discriminate between newborns with and without FIRS (81.08%; 76.74%). Conclusion Further studies are needed on a larger group of participants to demonstrate that an elevated concentration of IL-6 above 26.8 pg/mL in the cervicovaginal secretion eluate is an indirect noninvasive marker of FIRS.

Involvement of 17ß-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis.

PURPOSE: Endometriosis is considered to be an estrogen-related chronic inflammatory disease. The 17ß-hydroxysteroid dehydrogenase 1 (HSD17B1) converts estrone to 17ß estradiol. The role of HSD17B1 937 A>G (rs605059) single nucleotide polymorphism (SNP) in development of endometriosis is still disputable. This study evaluated the association of the HSD17B1 937 A>G (rs605059) SNP with infertile women affected by endometriosis from Polish Caucasian population. METHODS: The genotyping of cases (n = 290) and fertile women (n = 410) was conducted by high-resolution melting curve analysis. RESULTS: Statistical analysis demonstrated that the HSD17B1 937 A>G SNP is associated with endometriosis in stages I and II. The p trend and p allelic values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively. There was a significant association for the dominant model: (AG + GG vs AA) OR = 1.973 (95% CI = 1.178-3.304), p = 0.009, and for the recessive model: (GG vs AG + AA) OR = 1.806 (95% CI = 1.178-2.770), p = 0.006. However, we did not find statistical association of HSD17B1 937 A>G polymorphism with all infertile women with endometriosis or infertile women with endometriosis in stages III and IV. CONCLUSION: Our genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.

Fetal neck tumors - antenatal and intrapartum management.

In this review article we describe the ante- and perinatal management of fetal neck tumors. Although there are rare congenital anomalies, the clinical consequences for the fetus may be fatal and include airways obstruction, heart insufficiency, pulmonary hypoplasia and cosmetic effect. The right management allows to decrease the fetal and neonatal mortality and morbidity associated with the disease. It includes intrauterine therapy in some cases, mostly in a goitrus hypothyroidism of the fetus, but firstly, an assessment of the fetal airways patency with a subsequent, eventual Ex-Utero Intrapartum Treatment (EXIT).

[The use of Doppler in the second half of pregnancy]. / Zastosowanie badania dopplerowskiego w drugiej polowie ciay.

The article is a review of the literature on the use and clinical applicability of Doppler examination in the second half of pregnancy Nowadays, despite its accessibility Doppler ultrasound in pregnancy is often contraindicated. At the same time, the is no evidence of clinical utility of Doppler studies in a low-risk pregnancy The main indications for Doppler examinations in pregnancy include intrauterine growth restriction (IUGR), suspicion of fetal anemia, and complications of monochorionic twin pregnancy As far as IUGR is concerned, Doppler allows to diagnose IUGR associated with placental insufficiency and to differentiate IUGR from small for gestational age fetuses (SGA). Doppler is also very useful in making the decision about the time of delivery of IUGR fetuses. The assessment of the peak systolic velocity in the middle cerebral artery (PSV-MVA) reduced the rate of invasive procedures due to fetal anemia by approximately 70%. Complications of the second half of pregnancy which are indications for Doppler ultrasound include selective IUGR, TTTS and TAPS. Similarly to the first trimester, the mid-trimester assessment of the blood flow in the uterine arteries plays an important role in the prediction of preeclampsia and IUGR, especially early-onset forms of these complications.

[Concentration of pro-inflammatory interleukins in cervical secretions of women with PROM and in the umbilical cord blood of their newborns]. / Analiza stezenia prozapalnych interleukin w wydzielinie szyjkowej kobiet z PROM i we krwi pepowinowej ich noworodków.

OBJECTIVES: The aim of the study was to analyze the levels of pro-inflammatory interleukins in cervical secretions of women with PROM, depending on Ureaplasma spp. infection and the time elapsed since the rupture of the membranes, and to correlate their concentration in cervical secretions and in cord blood of the newborns. MATERIAL AND METHODS: The study included 30 women with PROM between 24 and 33+6 weeks of gestation. Cervical swabs from women with confirmed rupture of membranes taken at certain intervals and umbilical cord blood of their newborns constituted the study material. Cervical secretions were evaluated microbiologically and by the PCR method. Concentrations of IL-6, IL-19, IL-10 and TNF-α were analyzed by ELISA. RESULTS: Ureaplasma spp. were the most frequently isolated microorganisms in cervical secretions of women with PROM. Secretion of interleukins in the cervix was not influenced by time elapsed since the PROM. Comparison of interleukin levels in cord blood of newborns born to mothers with and without Ureaplasma spp infection revealed significantly higher levels of IL-6 in the case of Ureaplasma spp. A positive correlation between IL-6 and TNF-α levels in cervical secretions and in cord blood of mothers with PROM and Ureaplasma spp. was detected. CONCLUSIONS: 1. Cervical culture method appears to be sufficient for detecting Ureaplasma spp. 2. Pro-inflammatory interleukins, especially IL-6, obtained by non-invasive methods can be used to predict fetal inflammatory response.

[Long-term follow-up of children with prenatally found increased nuchal translucency and normal karyotype]. / Dalsze losy dzieci ze stwierdzonym prenatalnie poszerzeniem przeziernosci karkowej oraz prawidlowym kariotypem.

OBJECTIVE: The aim of the study was a long-term follow-up of children with prenatally found increased nuchal translucency (NT) and normal karyotype. MATERIAL AND METHODS: The study was conducted among 147 pregnant women who underwent amniocentesis due to increased fetal NT with or without other structural anomalies in the fetus. The final analysis concerned children with prenatally found increased NT and normal karyotype who were at least 2 years of age. A questionnaire was sent to all patients who underwent amniocentesis in order to assess the development of the children. RESULTS: Normal karyotype was found in 101 (68.7%) fetuses with increased NT Complete information on the outcome of pregnancy and further development of the children was submitted by 70 patients (69.3%). An abnormal outcome of pregnancy congenital structural anomalies and abnormal development was found finally in 17.1% of the children. In case of normal result of the second-trimester fetal ultrasound scan, normal further development was found in 93% of the children. CONCLUSIONS: 1. Further development of the children with prenatally found increased NT and normal karyotype is usually normal. 2. The degree of NT increase and the result of the second-trimester fetal anatomy scan seem to play the key role in the prognosis of further, postnatal outcome of the fetuses with increased NT 3. Normal karyotype in fetuses with increased NT does not exclude the possibility of an existing genetic syndrome.

Endometrial receptivity-- can it be diagnosed and controlled? And why does it matter?

Infertility remains a challenge to modern medicine. Despite extensive diagnostic and therapeutic procedures, the achievement of pregnancy remains an elusive goal in some patients. The endometrium is one of the key factors in embryo implantation. Older methods of describing endometrial receptivity like histology or ultrasound, did not bring noticeable improvement in pregnancy rates. New technologies, including genomics, proteomics, lipidomics, and secretomics promise to improve the detection of the implantation window in the endometrium and result in better counseling of patients with infertility.

[Results of Doppler examinations in fetuses of mothers with early- and late-onset preeclampsia]. / Wyniki badan dopplerowskich u plodów matek z wczesna i pózna postacia stanu przedrzucawkowego.

OBJECTIVES: Comparison of fetal umbilical and middle cerebral artery flow between early- and late-onset preeclampsia. MATERIAL AND METHODS: Our study was conducted among 50 patients with preeclampsia in the third trimester of pregnancy and included 30 women with early-onset and 20 with late-onset disease. Early-onset preeclampsia (EOP) and late-onset preeclampsia (LOP) were defined as onset of the disease before and after 34 weeks of gestation, respectively Doppler examinations of the fetal umbilical and middle cerebral artery were performed in all patients. Pulsatility Index (PI) and cerebral-umbilical ratio (CUR) were measured each time. RESULTS: Mean value of the umbilical artery PI was significantly higher in fetuses of patients with EOP in comparison to LOF, whereas mean PI value in MCA was significantly lower in fetuses from the group with EOP than LOP The percentage of abnormal results of fetal Doppler examinations, both in the umbilical artery and middle cerebral artery was significantly higher in EOP than in LOP. The same tendency was observed for CUR. CONCLUSIONS: 1. Early-onset preeclampsia is characterized by significantly higher degree of placental insufficiency than late-onset disease. 2. The obtained results indicate a significant, pathological role of the placenta in early-onset preeclampsia. 3. Pathophysiological differences between early- and late-onset preeclampsia lead to different clinical approach to patients, depending on the type of the disease, including emphasis on Doppler examination in the early-onset preeclampsia. 4. The presence or absence of placental insufficiency in pregnancy complicated by preeclampsia seems to determine the clinical course of the disease, thus allowing for an alternative classification of the condition into placental and maternal preeclampsia.

[Assessment of in vitro impact of low molecular weight heparin on expression of heparanase and heparin binding growth factors in the endometrium of women with impaired reproduction]. / Ocena wplywu in vitro niskoczasteczkówej heparyny na ekspresje heparanazy i czynników wzrostu wiazacych heparyne w endometriumn kobiet z zaburzonym rozrodem.

UNLABELLED: Heparin has a beneficial effect in the treatment of recurrent miscarriages and positively affects implantation rates in the IVF procedure in women with reproductive disorders not associated with thrombophilia. Several studies have indicated that heparin, by blocking the enzymatic activity of heparanase, may affect the structure and function of the extracellular matrix (ECM) and related growth factors. Disturbances in the remodeling (ECM) are believed to be the potential cause of implantation disorders and recurrent miscarriages. OBJECTIVES: The aim of the study was the evaluation, on an in vitro model, of the effect of low molecular weight heparin (LMWH) on the expression of heparanase (HPSE) and, important for successful implantation and invasion of trophoblast, heparan sulfate (HS)--binding growth factors, i.e., heparin-binding epidermal growth factor-like (HB-EGF), vascular endothelial growth factor (VEGF-A), fibroblast growth factor (FGF2) in the endometrium, during the implantation window in women with recurrent miscarriage. METHOD: Biopsy samples, obtained from 10 patients with two or more unexplained miscarriages, were used to construct a co-culture of glandular epithelial cells and stroma. Endometrium in vitro model was supplemented with steroid hormones and enoxaparin 5 ug/ml. Using the qPCR, we assessed, relative levels of the HPSE, HB-EGF, VEGF-A and FGF2 transcripts in glandular epithelium and stroma in cell culture. Using ELISA, we measured con- centrations of the mentioned above factors in culture medium. RESULTS: A statistically significant increase in the relative level of HPSE, HB-EGF VEGF-A, FGF2 transcripts in the cells of the glandular epithelium and stroma (p<0.001), as well as their increased concentration in the medium of cultures treated with steroid hormones (p<0.001) were observed. However we found no effect of LMWH supple- mentation on the level of the investigated factors. CONCLUSIONS: Our results show that the importance of the HPSE hydrolytic activity in the endometrium, during the implantation window, may have a secondary function, and/or that beneficial effects of LMWH in women with impaired reproduction have no significant, direct connection with the, catalyzed by HPSE, reconstruction of the ECM and with release of heparin-binding growth factors.

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.

OBJECTIVE: To determine the frequency of chromosomal aberrations in chorions after a miscarriage. The second was to examine selected euploid chorions using a next-generation sequencing (NGS) panel designed to assess 43 genes associated with pregnancy loss. MATERIALS AND METHODS: The 1244 chorions were tested by targeted quantitative fluorescent PCR (QF-PCR, 827 chorions) and microarray-based comparative genomic hybridization (aCGH, 417 chorions). Then, 9 euploid chorions were examined using a designed NGS panel. RESULTS: Trisomies were the most common chromosomal aberration identified in the spontaneous miscarriage samples. The second chromosomal abnormality in the aCGH group and the third most common in the QF-PCR group was monosomy X. Structural aberrations were the third most common aberration in the samples screened by aCGH (7.7% of chorions). In 19% of 647 couples who submitted chorions for analysis after pregnancy loss, the chromosomal abnormality in the chorion originated from a woman with a balanced chromosomal rearrangement. This discovery was statistically significant compared to patients with normal chorions. Using the designed NGS panel, we identified a potentially pathogenic de novo variant in the F5 gene in two euploid chorions. Additionally, among the patients who experienced miscarriages and were screened using the NGS panel, we identified variants in the MDM, ACE, and NLRP2 genes that could be associated with a predisposition to pregnancy loss. CONCLUSION: Numerical aberrations are the most common cause of miscarriages, but structural chromosomal aberrations also account for a significant proportion of abnormal results. Our findings indicate that couples with structural chromosomal abnormalities in material post-miscarriage are at increased risk of carrying balanced chromosomal abnormalities. Moreover, NGS-based analyses can uncover previously unidentified causes of miscarriages in the chorionic villi.

Polymorphic variants of CYP17 and CYP19A and risk of infertility in endometriosis.

OBJECTIVE: Endometriosis is recognized as an estrogen-dependent disease. There are conflicting data demonstrating single nuclear polymorphisms (SNPs) of CYP17 and CYP19 steroidogenic genes as related to endometriosis risk. We assessed the CYP17 5'-untranslated region -34 A/G (rs743572) and CYP19 Ex10 + C1558T (rs10046) SNPs in stage I-II endometriosis. DESIGN: Case-control study. SETTING: Division of reproduction at a university department in Poland. POPULATION: A total of 115 women with diagnosed stage I-II endometriosis according to the revised American Society for Reproductive Medicine (rASRM) classification and 197 fertile women as controls. METHODS: The SNPs CYP17 -34 A/G and CYP19 Ex10 + C1558T were identified by high-resolution melting curve analysis. MAIN OUTCOME MEASURES: Genotype prevalence and odds ratio for recessive and dominant genetic model for CYP17 and CYP19 SNPs. RESULTS: We observed a significantly increased CYP17 GG and GA genotype frequency in women diagnosed with rASRM stage I-II endometriosis compared with fertile women (OR = 2.4; 95% CI 1.4-4.2, p = 0.002). We also found a significantly increased CYP17 G allele frequency in cases compared with controls (OR = 1.6; 95% CI 1.2-2.2, p = 0.004). There were no significant differences in the distribution of the CYP17 GG genotype and CYP19 Ex10 + C1558T polymorphism between women diagnosed with rASRM stage I-II endometriosis and controls. CONCLUSION: The CYP17 -34 G variant, previously associated with increased 17ß-estradiol production, displayed a contribution to stage I-II endometriosis in women from a Polish population. Increased 17ß-estradiol concentration in carriers of the CYP17 -34 G variant might contribute to endometriosis and associated pathological processes.

The FCRL3 -169T>C polymorphism and the risk of endometriosis-related infertility in a Polish population.

OBJECTIVE: Recently, the FCRL3 -169T>C (rs7528684) single-nucleotide polymorphism (SNP) has been demonstrated to be a risk factor of endometriosis related infertility. We studied whether the FCRL -169T>C SNP can be associated with endometriosis-related infertility in a sample of the Polish population METHODS: Using PCR-RFLP analysis we genotyped 141 infertile women with endometriosis and 519 fertile women. FCRL3 transcript levels were determined by reverse transcription and real-time quantitative PCR analysis in CD19(+) B cells from women with endometriosis-associated infertility and fertile women RESULTS: We found a significantly increased frequency of the FCRL3 C/C genotype in women with endometriosis-associated infertility than controls [OR = 1.681 (95 % CI = 1.120-2.522, p = 0.0116, p corr = 0.0348)]. There was also a statistically increased frequency of the C/C and C/T genotypes in patients compared with controls [OR = 2.009 (95 % CI = 1.214-3.324, p = 0.0059, p corr = 0.0177)]. The p value of the χ (2) test for the trend observed for the FCRL3 -169T>C polymorphism was also statistically significant (p trend = 0.0012, p corr = 0.0036). We also found significantly increased FCRL3 transcript levels in carriers of the FCRL3 -169 CC vs TT and CT vs TT genotype both in women with endometriosis-related infertility (p = 0.012; p = 0.015) and fertile women (p = 0.017; p = 0.032) CONCLUSIONS: FCRL3 -169T>C polymorphism alters the expression of FCRL3 and can be a risk factor of endometriosis-related infertility.

The efficiency of artificial insemination by husband sperm in infertile couples according to the revised WHO 2010 criteria.

OBJECTIVES: The object of our study was to assess the efficacy measured as achievement of pregnancy of artificial insemination with husband sperm in couples that fulfilled the WHO criteria for infertility. MATERIAL AND METHODS: We have identified 120 patients that were diagnosed with infertility defined as at least one year of unprotected intercourse without achieving pregnancy After 2 year follow up the study group comprised 96 women and their partners. All couples had normal outcome of all standard infertility test, except for some with decline in sperm parameters that allowed the husband sperm to be used for fertilization in the IUI procedure according to the 2010 WHO guidelines. After IUI procedure patients were followed either by contact with their physicians, mail questionnaire, or by identification of their national ID number in computerized database of our hospital. RESULTS: A total of 32 patients got pregnant (33%). Of those that achieved pregnancy during the two year follow up period, fifteen (46.9%) had done so as a result of AIH, another 15 as a result of spontaneous conception, and two as a result of IVF (6.2%). The mean number of AIH procedures in a group of women that did achieve pregnancy was 3,56 (median 3.0), and was statistically higher than the number of AIH in those patients who have failed to achieve pregnancy (mean 2.54; median 2.0; p = 0.009). CONCLUCIONS: Our study seems to support the new criteria for assessment of sperm parameters. Judging the sperm according to the new, lessened criteria, did produce comparable pregnancy rates as with historical cohorts based on old criteria.

[Concentrations of antiangiogenic factors, triglycerides, glucose and insulin in women with two types of preeclampsia]. / Ocena stezenia czynników antyangiogennych, triglicerydów, glukozy, insuliny oraz SHBG u kobiet z dwoma postaciami stanu przedrzucawkowego.

OBJECTIVES: Assessment of serum concentrations of antiangiogenic factors, triglycerides, glucose, insulin and SHBG in women with two forms of preeclampsia (placental and maternal). MATERIAL AND METHODS: The study was conducted among 30 patients with placental preeclampsia and 20 women with maternal form of the disease. All patients were hospitalized at the Division of Reproduction, Poznan University of Medical Sciences, between 2010-2012. The placental form of preeclampsia was diagnosed in cases when Doppler signs of placental insufficiency were present. The maternal type of the disease was diagnosed in the absence of coexisting markers of placental insufficiency in the Doppler study ELISA was used to determine the concentrations of antiangiogenic factors (sFlt-1 and sEng). RESULTS: The placental form of preeclampsia was diagnosed significantly earlier than maternal type of the disease. In women with placental preeclampsia the gestational age at delivery and newborn birth weight were significantly lower than in patients with maternal preeclampsia. IUGR incidence (expressed as a percentage) was significantly higher in patients with placental preeclampsia as compared to the women with maternal form of the disease. Serum concentrations of sFlt-1 and sEng were significantly higher in women with placental preeclampsia. No differences in concentrations of glucose, insulin, triglycerides and SHBG were found between groups. CONCLUSIONS: 1. The Two Stage Model of preeclampsia, characterized by increased concentrations of antiangiogenic factors in maternal blood secondary to decreased placental blood flow seems to better explain the pathophysiology of the placental form of preeclampsia than the maternal one. 2. Late onset of clinical symptoms in maternal preeclampsia, lower incidence of IUGR, as well as lower concentrations of antiangiogenic factors in maternal blood, do not indicate the primary role of placental pathology in the pathogenesis of the disease. 3. In spite of no difference in metabolic abnormalities in third trimester of pregnancy between two types of preeclampsia, the patophysiology of the two forms of the disease seems to be different. 4. The obtained results of metabolic markers in women with two types of preeclampsia justify the need of further studies in this field in first trimester of pregnancy.

Aberrant claudin-4 transcript levels in eutopic endometrium of women with idiopathic infertility and minimal endometriosis.

INTRODUCTION: Claudin-4 (CLDN4) is a transmembrane protein, responsible for cellular contact and organization. A different expression of claudin 4 in the endometrium, depending on the menstrual cycle and with peak at the aim of the 'implantation window', has been observed. CLDN4 is believed to play an important role in embryo implantation. THE AIM: The aim of the study was to compare the mRNA CLDN4 expression levels in two subgroups of infertile women (idiopathic infertility or minimal endometriosis) and compare them to fertile controls. METHOD: The study included 36 women with idiopathic infertility and 24 with minimal endometriosis. The control group comprised 26 women. Eutopic endometrium samples were collected with a Pipelle device during the implantation window. Firstly mRNA was extracted from the endometrium and reverse transcribed into cDNA. Real time PCR was used for the assessment of relative expression levels. RESULTS: The observed transcription level of CLDN4 did not differ statistically between the studied groups, but was significantly higher when compared to controls. CONCLUSIONS: Exceedingly high levels of CLDN4 might negatively influence fertility rates.

Expression of HOXA11 in the mid-luteal endometrium from women with endometriosis-associated infertility.

BACKGROUND: A decrease in HOXA11 expression in eutopic mid-secretory endometrium has been found in women with endometriosis-associated infertility. METHODS: Using Real-time quantitative PCR (RQ-PCR) and western blotting analysis we studied the HOXA11 transcript and protein levels in mid-luteal eutopic endometrium from eighteen infertile women with minimal endometriosis, sixteen healthy fertile women and sixteen infertile women with fallopian tubal occlusion from the Polish population. We also evaluated transcript levels of DNA methyltransferases DNMT1, DNMT3A and DNMT3B in these groups of women. RESULTS: There were significantly lower levels of HOXA11 transcripts (p = 0.003, p = 0.041) and protein (p = 0.004, p = 0.001) in women with endometriosis as compared to fertile women and infertile women with tubal occlusion. Moreover, we found significantly higher methylation levels of the CpG region in the first exon of HOXA11 in infertile women with endometriosis compared with fertile women (p < 0.001) and infertile women with tubal occlusion (p < 0.001). We also observed significantly increased levels of DNMT3A transcript in women with endometriosis than fertile women (p = 0.044) and infertile women with tubal occlusion (p = 0.047). However, we did not observe significant differences in DNMT1 and DNMT3B transcript levels between these investigated groups of women. CONCLUSIONS: We confirmed that reduced HOXA11 expression may contribute to endometriosis-associated infertility. Moreover, we found that DNA hypermethylation can be one of the possible molecular mechanisms causing a decrease in HOXA11 expression in the eutopic mid-secretory endometrium in infertile women with endometriosis.

A rare case of recurrent fetal goiter.

We report the case of fetal goiter which occurred in two consecutive pregnancies in the same patients. The first one, due to too late diagnosis and no intrauterine treatment, contributed to the immediate postnatal death of the newborn; the second one was properly diagnosed at 19 weeks and then effectively treated prenatally which allowed to avoid the fatal complications for the fetus and the newborn.

[Assessment of uterine arteries Doppler in the first half of pregnancy in women with thrombophilia]. / Ocena przeplywów krwi w tetnicach macicznych w pierwszej polowie ciazy u pacjentek z trombofilia.

OBJECTIVES: Assessment of uterine artery blood flow in women with congenital thrombophilia and antiphospholipid syndrome (APS) in the first half of pregnancy MATERIAL AND METHODS: Uterine arteries blood flow was assessed in a Doppler examination in 20 women with thrombophilia (15 with congenital thrombophilia, 5 with APS) at 12 and 20 weeks gestation at the Division of Reproduction, Poznan University of Medical Sciences, between 2000 and 2012 The control group consisted of 20 multiparous pregnant women with no history of pregnancy complications. All patients with thrombophilia received enoxaparin or enoxaparin and aspirin before enrollment into the study Patients from the control group did not receive any antithrombotic prophylaxis. The mean Pulsatility Index (PI) of both uterine arteries and the presence or the absence of the "notch" was assessed, both at 12 and 20 weeks gestation in each patient from the study and from the control groups. RESULTS: Mean PI values in the uterine arteries at 12 weeks in patients with thrombophilia and in controls were 1.82 (1.00-3.13) and 1.52 (1.30-1.88), respectively (p = 0.08). Mean PI value in the uterine arteries was 7.27 (0.61-2.48) in women with thrombophilia at 20 weeks, which turned out to be significantly higher (p = 0.026) than in the control group 1.07 (0.8-1.24). The bilateral "notch" was found at 12 weeks gestation in 40% of patients with thrombophilia vs. 0% in the control group (p = 0.03). There was no significant difference between the groups in this parameter at 20 weeks. CONCLUSIONS: 1. An increased impedance of flow was found in the uterine arteries in patients with thrombophilia at 12 and 20 weeks gestation in spite of antithrombotic prophylaxis. 2. Thrombotic episodes in patients with thrombophilia cannot be explained solely by the presence of placental thrombosis.

[Results of cytogenetic examinations in fetuses with increased nuchal translucency]. / Wyniki badan cytogenetycznych u plodów z poszerzeniem przezernosci karkowej.

OBJECTIVES: The analysis of karyotypes in fetuses with increased nuchal translucency (NT) and the assessment of correlations between NT thickness, presence of other fetal anomalies and the result of karyotype. MATERIAL AND METHODS: The study was conducted among 121 singleton fetuses with increased NT thickness. In all fetuses the karyotype was assessed following amniocentesis. The results of karyotypes were analyzed in the whole studied group, as well as in specific subgroups of patients according to NT value: 1) increased NT, but not exceeding 3,5mm, 2) 3,5-4,4mm, 3) 4,5-5,4mm, 4) 5,5-6,4mm, and 5) > or = 6,5mm. RESULTS: Abnormal results of the karyotype were found in 41 out of 121 fetuses (33,9%). The most common aberration was trisomy 21. A percentage of abnormal fetal karyotypes increased with the degree of NT thickening and was 15,9% in fetuses with increased NT which did not exceed 3,5 mm and 54,5% in fetuses with NT > or = 6,5 mm. The abnormal karyotype was diagnosed in 54,5% of fetuses with increased NT and other abnormalities found in ultrasound. CONCLUSIONS: 1. Around 65% of the fetuses with an increased NT have normal karyotype. 2. A percentage of abnormal karyotypes in fetuses increases with the degree of NT thickening. 3. An ultrasound finding of an increased NT and other abnormalities in a fetus is associated with higher risk of chromosomal aberrations in comparison to cases when there is only an increased nuchal translucency.

[Incidence of hereditary thrombophilia in women with pregnancy loss in multi-center studies in Poland]. / Czestosc wystepowania trombofilii wrodzonej u kobiet z utrata ciaz w wieloosrodkowych badaniach w Polsce.

AIM: The aim of this study was to estimate the prevalence of factor V Leiden and prothrombin gene G20210A mutation among women with pregnancy loss in Poland. MATERIAL AND METHODS: we analyzed a group of 396 women (mean age of 30.4 (+/- 4.6) years), who experienced at least one pregnancy loss. Patients were recruited from 6 academic centers (Poznan, Bialystok, Lublin, Wroclaw Bydgoszcz, Gdansk), and were divided into the following groups: 122 patients with 3 episodes of early recurrent pregnancy loss (group 1), 87 patients with late pregnancy loss (group 2) and 46 patients with intrauterine pregnancy loss (group 3). Patients who did not fulfill the above inclusion criteria were divided into additional groups. 50 healthy women (mean age of 29.2 (+/- 4.5) years), having at least one child, constituted the control group. Factor V Leiden mutation and prothrombin G20210A gene mutation were examined in all 396 women with pregnancy loss and 50 controls. For molecular analysis peripheral blood was tested. Genome DNA isolation from lymphocyte was performed with commercial assay QIAampDNA Blood Mini Kit. RESULTS: Among 396 women with unexplained loss of at least one pregnancy 36 (9.1%) were carriers of inherited thrombophilia. Factor V Leiden mutation was present in 29 women (73%), prothrombin gene mutation G20210A in 6 (1.5%) and in 1 (0.3%) patient both mutations were detected. No coagulation defects were found in the control group. Factor V Leiden mutations was the most common disorder (21.7%) in patients with intrauterine demise and was significantly higher than in the group of women with early recurrent and late losses, p<0.011 and p<0,006 respectively The frequency of G20210 A prothrombin gene mutation did not differ substantially between the examined groups; the highest number (2.6%) was found in women with early and late pregnancy losses, and the lowest number (0.8%) was seen in women with early recurrent miscarriages. CONCLUSION: Factor V Leiden screening should be performed, regardless of negative history of thrombosis, in patients who experienced intrauterine fetal demise or recurrent early miscarriages.