[New molecular methods in prenatal invasive diagnostics].

Abstract:

:New diagnostic techniques employed in laboratories all over the world enable to create new tests for prenatal genetic diagnosis. They include cytogenetics, molecular-cytogenetics and molecular methods. Chromosomal numerical aberrations (aneuploidies) remain to be the most frequent genetic changes diagnosed prenatally Therefore, our paper presents the latest methods used mainly in prenatal diagnosis of the most common chromosome numerical changes, as well as other methods applicable in detecting chromosome structural changes or gene mutations. One of the main advantages of these new approaches is the short period of time needed to obtain a result. Some of these techniques are used world-wide: QF-PCR (Fluorescence Quantitive Polymerase Chain Reaction)--based on the analysis of the short polymorphic sequences characteristic for each individual; MLPA (Multiplex Ligation-dependent Probe Amplification)--based on the probes ligation to complementary genomic fragments in patient DNA; microarray CGH (Comparative Genomic Hybridization)--based on genomic hybridization to microarray, which enables analysis of the entire genome. Other new methods are also gradually introduced to invasive prenatal diagnosis: NGS (Next-generation DNA sequencing)--for the analysis of the whole genome at the DNA level; BoBs (BACS-on-Beads)--molecular-cytogenetic technique based on hybridization of probes immobilized on polystyrene microspheres with fetal DNA. Nowadays, rapid diagnosis of the most common chromosomal aneuploidies is not a standard procedure in Poland, as opposed to cytogenetics (karyotyping). However, for specific clinical indications, fast and reliable methods of genetic analysis present are likely to become standard procedures in prenatal diagnosis.

journal_name

Ginekol Pol

journal_title

Ginekologia polska

authors

Łaczmańska I,Stembalska A

subject

Has Abstract

pub_date

2013-10-01 00:00:00

pages

871-6

issue

10

eissn

0017-0011

issn

2543-6767

journal_volume

84

pub_type

杂志文章,评审
  • [Ultrasonographic diagnosis of fetal congenital abnormalities].

    abstract::Retrospective analysis of ultrasonographic examinations in 81 women who delivered newborns with congenital malformations was performed. Totally 147 anatomical defects in 83 newborns were found. 85 of 147 abnormalities (57.8%) were detected prenatally, most commonly (79.6%) in the third-trimester. All cases of covering...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Bakon I,Sikora J,Machalski T,Szkodny E,Kellas S,Jaworska E

    更新日期:2001-12-01 00:00:00

  • [Screening for ovarian cancer in BRCA1/BRCA2 mutations carriers].

    abstract::Worldwide screening for early detection of ovarian cancer in both, the general population and the group of women at high risk for ovarian cancer including BRCA genes mutations carriers, has proven to be ineffective. The recommended screening methods, including a pelvic examination, transvaginal ultrasound, and CA125 p...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:10.17772/gp/1735

    authors: Synowiec A,Wcisło G,Bodnar L,Gasowska-Bodnar A,Szczylik C

    更新日期:2014-05-01 00:00:00

  • [Does treatment with antiestrogens in men with oligozoospermia influence the course of pregnancy in infertile married women].

    abstract::Study aimed at obtaining answer to the question if antiestrogenic treatment (tamoxifen or clomiphene) of men having oligozoospermia has an impact on the pregnancy course. The pregnancy courses were live analysed of 34 healthy women, who had been treated with the artificial insemination by husband, having received tamo...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Salata I,Kowalski AJ,Czechowski B,Ochedalski T,Karowicz A,Kowalska-Koprek U

    更新日期:1993-10-01 00:00:00

  • [Classification and surgery for uterovaginal anomalies].

    abstract::Maldevelopment of the müllerian ducts occurs in a variety of forms, and each anomaly is distinctive. Nevertheless, some generalizations can be made. A comprehensive preoperative evaluation of patients with suspected uterovaginal malformations is essential, but a clear understanding of the particular anomaly may not be...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Rechberger T,Wróbel A

    更新日期:2005-11-01 00:00:00

  • [Hereditary ovarian cancer as a separate clinical entity].

    abstract::Family history of ovarian cancer has been regarded as the most important risk factor in developing this type of tumor. Recent identification of cloning of specific tumor suppressor genes responsible for hereditary ovarian cancer syndromes, resulted in the surge of enthusiasm and optimism regarding the practical applic...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Majdak E,Debniak J,Emerich J

    更新日期:2003-07-01 00:00:00

  • [Chemokines in the diagnosis of neonatal infections].

    abstract::Bacterial infection is a major cause of neonatal morbidity and mortality. The increased susceptibility of the neonate especially premature one, for bacterial infection is the result of several factors including a delayed maturation of immune response of neonatal B and T cells and deficiencies of the myelopoetic system...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Beck B,Królak-Olejnik B

    更新日期:2005-01-01 00:00:00

  • [Salpingotomy vs salpingectomy--a comparison of women's fertility after surgical treatment of tubal ectopic pregnancy during a 24-month follow-up study].

    abstract:INTRODUCTION:Ectopic pregnancy (EP) is usually located in the Fallopian tube and it has a significant adverse effect on womens fertility Three types of EP treatment include: expectant, medical, and surgical radical (salpingectomy) or conservative (salpingotomy) management. OBJECTIVES:The aim of the study was to compar...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:10.17772/gp/1675

    authors: Kostrzewa M,Zyła M,Litwińska E,Kolasa-Zwierzchowska D,Szpakowski A,Stachowiak G,Szpakowski M,Wilczyński JR

    更新日期:2013-12-01 00:00:00

  • Gender-specific implications for pharmacology in childbearing age and in postmenopausal women.

    abstract::Women have three very important physiological functions that are not observed in men--menstruation, pregnancy and lactation. Each of these mechanisms influences pharmacokinetics and pharmacodynamics of many drugs. Individualization of pharmacotherapy is a major challenge of modern medicine. The differences in response...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:10.17772/gp/2002

    authors: Bartkowiak-Wieczorek J,Wolski H,Bogacz A,Kujawski R,Ożarowski M,Majchrzycki M,Seremak-Mrozikiewicz A

    更新日期:2015-02-01 00:00:00

  • [Fertility after adnexal surgery].

    abstract::Among 64 women undergoing tubal-ovarian surgery 40.6% became pregnant spontaneously. Because of 47% of the remainder patients demonstrated anovulation the induction of ovulation was performed except the cases with hypergonadotrophic hypogonadism (9.4%). After treatment the total population with ovulatory cycles increa...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Jakowicki J,Putowski L,Tomaszewski J

    更新日期:1993-12-01 00:00:00

  • [Craniofacial malformations in prenatal ultrasound evaluation. Literature review].

    abstract::Fetal face is the key anatomical location, both psychologically and clinically for the mother and the clinician. Ultrasound prenatal examination of the maxillofacial region allows to evaluate the fetal face in the first weeks of gestation. In ambulatory intravaginal ultrasound, sensitivity of the facial defect detecti...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:10.17772/gp/1643

    authors: Zieliński R,Respondek-Liberska M

    更新日期:2013-09-01 00:00:00

  • [Treatment of cervical pregnancy with systemic methotrexate and KCI solution injection into the gestational sac--case report and review of literature].

    abstract::We report a case of a 6-week cervical pregnancy successfully treated with systemic methotrexate and gestational sac biopsy with 15%-calcium chloride solution injection. Serial monitoring of human chorionic gonadotropin levels, combined with ultrasound examinations, confirmed spontaneous miscarriage. Applied treatment ...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Polak G,Stachowicz N,Morawska D,Kotarski J

    更新日期:2011-05-01 00:00:00

  • Effects of sildenafil citrate and etanercept treatment on TNF-α levels in peripheral blood of women with recurrent miscarriage.

    abstract:OBJECTIVES:The aim of the study was to determine serum concentrations of a proinflammatory cytokine, tumor necrosis factor-alpha (TNF-α), in patients with recurrent abortions undergoing treatment with sildenafil or etanercept. MATERIAL AND METHODS:Serum TNF-α concentrations were determined for 24 patients with recurre...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:10.17772/gp/57823

    authors: Ohams M,Jerzak M,Górski A

    更新日期:2015-07-01 00:00:00

  • [Gall bladder stones during pregnancy in the age of laparoscopic cholecystectomy].

    abstract::Not all pregnant women with gall bladder stones can be treated conservatively--some of them require surgery. The main indications for cholecystectomy are the following: repeated episodes of biliary colic and acute cholecystitis. There is no data indicating which moment during the pregnancy may be the safest to perform...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Modrzejewski A,Lewandowski K,Pawlik A,Czerny B,Kurzawski M,Juzyszyn Z

    更新日期:2008-11-01 00:00:00

  • [Comparison of cerclage and cerclage pessary in the treatment of pregnant women with incompetent cervix and threatened preterm delivery].

    abstract:UNLABELLED:Cervical incompetence is one of the causes of preterm delivery. Ultrasound examination of the cervix has given the evidence that cervical shortening, dilatation of internal cervical os and funneling observed long before term are the warning signs of preterm delivery. Early diagnosis and treatment may serve b...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Antczak-Judycka A,Sawicki W,Spiewankiewicz B,Cendrowski K,Stelmachów J

    更新日期:2003-10-01 00:00:00

  • [Ultrasonographic diagnosis of cervical incompetence].

    abstract:OBJECTIVE:The aim of this study was to verify clinical diagnosis of cervical incompetence by the use of transvaginal sonography. MATERIAL AND METHODS:101 pregnant women hospitalized at the Pathological Pregnancy Department, Medical University of Lodz in years 2000-2002 because of suspicion of cervical incompetence wer...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Lipecka-Kidawska E,Kuzmecka-Matuszewska J,Berner-Trabska M,Kuś E,Kowalska-Koprek U,Gottwald L

    更新日期:2004-07-01 00:00:00

  • [Electroresectoscopy in submucous fibroids, intrauterine adhesions and uterine malformation treatment].

    abstract::182 hysteroscopic operations with electroresectoscope use performed in Ist Department of Obstetrics and Gynaecology (Warsaw) between 1996-1999 were analyzed. Myomectomy was performed in 117 patients, resection of uterine septum in 25 and deliberation of intrauterine adhesions in 40 patients. Abnormal bleeding and infe...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Szymański R,Kamiński P,Marianowski L

    更新日期:2000-09-01 00:00:00

  • [Evaluation of some neutrophil adhesion molecules in pregnancy complicated by diabetes mellitus type 1].

    abstract:UNLABELLED:The effective functions of human peripheral blood neutrophil are modulated by regulatory molecules depending on receptor agonists and adhesion molecules. OBJECTIVES:Evaluation of percentage of neutrophil adhesion molecules in pregnancy of diabetic mothers as well as their expression on peripheral blood neut...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Pertyńska MP,Banasik M,Tchórzewski H,Cypryk K,Wilczyński J

    更新日期:2000-06-01 00:00:00

  • [The relationship of the expression of proliferetron--related antigens Ki67 and PCNA in the cells of ductal breast cancer with the differentiation grade].

    abstract:OBJECTIVES:Ki67 and PCNA proteins are characteristic for cells in mitotic cycle and represent unfavourable prognostic indices. Intensity of the proteins expression directly correlates with grade of tumour differentiation. They belong to the second category of prognostic factors in breast cancer according to the College...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Surowiak P,Pudełko M,Maciejczyk A,Dziegiel P,Wojnar A,Zabel M

    更新日期:2005-01-01 00:00:00

  • [Tissue reaction to polypropylene mono-or multi-filament tapes used in surgical techniques of stress urinary incontinence treatment].

    abstract:OBJECTIVES:The "gold standard" in surgical treatment of stress urinary incontinence (SUI) is sling operation with polypropylene tape appliance under the mid urethra. There are two types of polypropylene tape which are the most popular nowadays. These two tapes are differently knitted so they have different biomechanica...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Rechberger T,Wróbel A,Adamiak A,Skomra D,Korobowicz E,Tomaszewski J,Czuczwar M,Skorupski P

    更新日期:2003-09-01 00:00:00

  • Effects of nutritional nursing intervention based on glycemic load for patient with gestational diabetes mellitus.

    abstract:OBJECTIVES:To determine the effects of nutritional nursing intervention based on glycemic load (GL) for patients with gestational diabetes mellitus. MATERIAL AND METHODS:One hundred thirty-four patients diagnosed with gestational diabetes mellitus at our hospital were selected from March 2015 to March 2017 and randoml...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,随机对照试验

    doi:10.5603/GP.2019.0007

    authors: Lv S,Yu S,Chi R,Wang D

    更新日期:2019-01-01 00:00:00

  • Can neonates born at 34 weeks be classified as late preterm?

    abstract:OBJECTIVES:In recent years, much attention has been given to infants born prematurely, at 34 0/7 to 36 6/7 weeks of gestation (WG), which have been classified as 'late preterm'. Neonates from that subgroup are less physiologically and metabolically mature than term infants. The aim of the study was to determine whether...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:10.5603/GP.2016.0092

    authors: Baumert M,Surmiak P,Walencka Z,Mrowiec E,Sodowska P

    更新日期:2016-01-01 00:00:00

  • [Experiences and observations of 80 women using the Spider Cu intrauterine contraceptive device for 2 years].

    abstract::The author describes the experiences and observations of 80 women with the Spider Cu, a Polish IUD. The Spider Cu is a copperbearing spatial IUD which demonstrates high elasticity, resilience, as well as a low pregnancy rate. (author's modified) ...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Konieczny A

    更新日期:1983-10-01 00:00:00

  • Acquired uterine arteriovenous malformation - a diagnostic dilemma.

    abstract::Uterine arteriovenous malformations are uncommon but potentially life-threatening condition. They can be congenital or acquired and should be suspected in cases of severe or persistent uterine bleeding. In recent years, there has been an increasing number of reports of acquired vascular lesions of the uterus following...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:10.5603/GP.a2018.0039

    authors: Szpera-Goździewicz A,Gruca-Stryjak K,Bręborowicz GH,Ropacka-Lesiak M

    更新日期:2018-01-01 00:00:00

  • [Is grand multiparity an obstetrical risk factor?].

    abstract:OBJECTIVES:The aim of the study was to analyze the course of labor of grand multiparas (4 deliveries and more) in comparison to multiparas (2 or 3 deliveries). MATERIALS AND METHODS:A group of 400 grand multiparas were included in the study and compared with a group of 393 multiparas. All the deliveries took place in ...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Matusiak R,Szymusik I,Kosińska-Kaczyńska K,Borowska A,Myszewska A,Morawski Z,Wielgoś M,Przyboś A

    更新日期:2006-12-01 00:00:00

  • The role of insulin and selected adipocytokines in patients with polycystic ovary syndrome (PCOS) - a literature review.

    abstract::Polycystic ovary syndrome (PCOS) is the most common endocrinopathy in women of reproductive age. It is manifested by hyperandrogenism, polycystic ovaries on ultrasound, oligomenorrhoea and anovulation. PCOS patients are more vulnerable to metabolic disorders: insulin resistance, obesity endothelium dysfunction, athero...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Ozegowska KE,Pawelczyk LA

    更新日期:2015-04-01 00:00:00

  • [Thermoregulation and maintenance of appropriate temperature in newborns].

    abstract::Hypothermia is one of the most important factors having an influence on morbidity of the newborns. Physiology of neonatal thermoregulation and thermogenesis is described as well as range of methods used for preventing heat loss and maintaining neutral temperature. An article presents the main reasons of limited thermo...

    journal_title:Ginekologia polska

    pub_type: 杂志文章,评审

    doi:

    authors: Szymankiewicz M

    更新日期:2003-11-01 00:00:00

  • [Usefulness of voiding history using voiding dysfunction questionnaire in diagnosis of lower urinary tract dysfunction in women].

    abstract:OBJECTIVES:The two functions of the lower urinary tract are the filling/storage and emptying. Similarly lower urinary tract symptoms can be subdivided. DESIGN:The aim of the study was the estimation of usefulness of present complaints-voiding history in diagnosis of lower urinary tract dysfunctions. MATERIAL AND METH...

    journal_title:Ginekologia polska

    pub_type: 临床试验,杂志文章

    doi:

    authors: Klijer R,Spruch T

    更新日期:2001-03-01 00:00:00

  • [Flow cytometry application in the evaluation of antisperm antibodies in sera samples of infertile people and prepubertal boys with gonadal disorders].

    abstract:OBJECTIVES:The aim of the following study was to assess antisperm antibodies in sera samples of infertile men and women, as well as from prepubertal boys by means of flow cytometry. MATERIAL AND METHODS:We tested sera samples of infertile and fertile adult populations, prepubertal boys with gonadal disorders and healt...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Kamieniczna M,Havryluk A,Nakonechnyj A,Boyko J,Chopyak V,Kurpisz M

    更新日期:2010-08-01 00:00:00

  • [Hysteroscopic evaluation of the uterine tubal opening].

    abstract::The hysteroscopic evaluation of uterine openings in 23 sterile women was described. The attention was paid to morphological features of obliterated uterine openings. The hysteroscopic examination of structural changes located in uterine openings seems to be a reliable method for evaluation of potency of oviducts. This...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Wilczak M,Sajdak S,Woźniak J,Skrzypczak J,Jedrzejczak P,Pisarski T

    更新日期:1994-07-01 00:00:00

  • [Color Doppler blood flow measurements and microvessel density assessment in ovarian tumors].

    abstract:OBJECTIVE:The aim of our study was to compare ultrasound vascular blood flow indices with the expression of CD-34 in women with benign and malignant adnexal tumors. MATERIALS AND METHODS:Transvaginal color and pulsed Doppler sonography was performed before surgical procedure in 105 women with adnexal tumors. Blood flo...

    journal_title:Ginekologia polska

    pub_type: 杂志文章

    doi:

    authors: Czekierdowski A,Szymański M,Szumiło J,Kotarski J

    更新日期:2003-09-01 00:00:00