Clinical article: screening for trisomy 13 using traditional combined screening versus an ultrasound-based protocol.

AIMS: To compare the screening capability of ultrasonography in detecting trisomy 13 (T13) using a multiparameter sonographic protocol (NT+) with a classical combined screening test (CST) protocol. METHODS: The project was a prospective, multicenter study based on a nonselected mixed-risk population of women referred for a first-trimester screening examination. Each subject was offered a choice between either the gold standard, traditional combined screening test (CSG arm) or the ultrasound-based screening protocol (USG arm). General and MA-based screening performances were checked. RESULTS: The study population comprised 20,887 pregnancies: 12,933 in the CSG arm, including 27 cases of T13, and 7954 in the USG arm, including 30 cases of T13. The DR for T13 was higher in the CSG arm than in the USG arm for all tested cutoff points: 1/50 (88.5 versus 63.3%, respectively), 1/100 (88.5 versus 70%, respectively) and 1/300 (92.3 versus 83.3%, respectively). Using the ROC curves for fixed FPRs of 3 and 5%, the T13 detection rate in our study reached 90 and 93%, respectively, in the USG arm and 92 and 96%, respectively, in the CSG arm. MA influenced the T13 screening performance in the USG arm and reduced the DR in patients <31 years. Such influence was not detected in the CSG arm. CONCLUSIONS: Classic CST was more effective in detecting T13 than the ultrasound-only approach. However, the recommended cutoff of 1/50 showed unsatisfactory results for both traditional CST and the multiparameter sonographic test we proposed.

Combined screening test for trisomy 21 - is it as efficient as we believe?

OBJECTIVES: To compare two first-trimester screening strategies: traditional combined screening and the one based on ultrasound markers only. We investigated the effect of maternal age (MA) on the screening performance of both of these strategies. METHODS: This was a prospective observational study based on a non-selected mixed-risk population of 11,653 women referred for first-trimester screening. The study population was divided in two groups: combined screening (CS) and ultrasound-based screening (US). Absolute risk was calculated to determine the influence of MA on screening performance. RESULTS: The CS arm comprised 5145 subjects including 51 cases of trisomy 21 (T21), and the US arm comprised 5733 subjects including 87 subjects with T21. Seven hundred and seventy-five subjects were excluded from the study. For a false positive rate (FPR) of 3%, the detection rate (DR) of T21 in CS arm was 78% vs. 90% in US arm. For 5% FPR, DR was 84% and 94% in CS and US arm, respectively. MA had an influence on DR positive rates in CS: both DR and FPR for T21 increased with advance in MA. CONCLUSIONS: The US protocol showed higher DR of T21 compared to the CS one. It may be considered as a viable alternative to CS for T21 where access to biochemical testing is limited.

Screening for trisomy 18 using traditional combined screening vs. ultrasound-based protocol in tertiary center environment.

OBJECTIVES: To compare the screening performances of combined screening test risk algorithm for trisomy 18 (T18) using various cutoffs with a multiparameter ultrasound-based method. To compare the general and maternal age (MA)-based screening performances for T18 by means of combined screening and an ultrasound-based method. METHODS: This was a prospective, multicenter study based on a mixed-risk non-selected population of women referred to referral centers for a first-trimester screening. Each subject was offered a choice between either a traditional combined screening (CSG arm) or an ultrasound-based screening (USG arm). General and MA-based screening performances were measured. RESULTS: The study population comprised 10 820 pregnancies as follows: 5132 in the CSG arm, including 28 cases of T18, and 5688 in the USG arm, including 29 cases of T18. In the CSG arm, the detection rate (DR) for T18 at a false-positive rate (FPR) of 3% was 86%, whereas the DR was 100% for the USG arm. MA influenced the T18 screening performance in the CSG arm and reduced the DR in MA ranges <26 years and 31-35 years. This influence was not observed in the USG arm. CONCLUSIONS: Only, a multiparameter ultrasound-based screening method may be considered an effective alternative to combined screening for T18 screening. The technique exhibits high and stable DRs irrespective of MA.

[Prenatally reported fetal ovarian cysts--treatment and prognosis]. / Torbiele jajnika wykrywane prenatalnie u plodu--postepowanie i rokowanie.

We present 6 case reports of ovarian cysts, diagnosed in the prenatal and postnatal period, as well as treatment. There was no need for invasive prenatal therapy in any of the reported fetuses. Most of the cysts disappeared spontaneously (in one case uncomplicated cyst rupture in fetus have been observed), only in one case laparoscopy was performed after birth.

[Menstrual irregularities in puberty]. / Zaburzenia miesiaczkowania w okresie dojrzewania.

The establishment of regular menstrual cycle is an important process for an adolescent girl. Psychologically it is a sign of becoming an adult and a factor for female identity. Normal function of the hypothalamic-pituitary-ovarian axis and system of sexual hormones is observed, which are the basis for future fertility and reproduction. Disturbances of this regulatory system during its development, cause dysfunctional uterine bleeding and are a frequent gynaecological problem. The challenge is to distinguish normal individual variation from real endocrine or organic problems. In the article the most common menstrual disorders with the focus on dysfunctional uterine bleeding in puberty, its recognition and treatment are presented.

[Genital warts associated with HPV infection during II and III trimester of pregnancy--a case report and analysis of treatment options]. / Klykciny konczyste u ciezarnej w II i III trymestrze ciazy--opis sytuacji klinicznej i analiza zastosowanego leczenia.

More than 30 HPV types can infect the genital tract. Viral infection can be present in clinical, subclinical or latent form. A visible genital form of HPV infection are genital warts, which are commonly caused by HPV types 6 and 11, and appear on the vulva, cervix, vagina, urethra and anus. Oncogenic HPV types 16, 18, 31, 33 and 35 are also found in genital warts and are associated with vulval (VII), cervical (CIN) and anal (AIN) intraepithelial neoplasia. The general prevalence of HPV infection in the form of visible genital warts estimates to about 1% of sexually active adults. Approximately 15% of the infected group / of all adults have a subclinical or latent infection and at least 80% had been infected with one or more genital HPV types at some point in their lives. The highest rate of frequency of infections occurs in the group of adults, aged from 18 to 28. Over the last twenty years figures have shown a constant growth of the infection rate, which also includes pregnant women. Genital warts can proliferate during pregnancy due to altered immunity and increased blood supply. Cryotherapy, electrocautery, laser therapy, surgery or trichloroacetic acid may be used to remove the warts. In the paper a case report on genital warts associated with HPV infection during II and III trimester of pregnancy and analysis of treatment options has been presented.

[Phytoestrogens--an alternative to hormonal replacement therapy]. / Fitoestrogeny--alternatywa hormonalnej terapii zastepczej.

Perimenopausal period is associated with the reduction of endogenous estrogens which might lead to many disorders of general health in women. Traditional hormone replacement therapy (HRT) is effective for controlling vasomotor symptoms and reducing the risk of cardiovascular disease and osteoporosis in postmenopausal women. However, according to the latest studies, many women are reluctant to initiate this therapy because of concerns regarding the benefits and risks considering contraindications and side effects of it. Therefore, a lot of studies were carried out to find the influence of phytoestrogens on menopausal symptoms. Phytoestrogens are defined as naturally occurring compounds, found in plants; they have a variety of activities: estrogenic and antiestrogenic. Could phytoestrogens be used as an alternative to hormonal therapies for the management of menopausal symptoms?

[Selected aspects of diagnosis and treatment of transsexualism in Poland]. / Wybrane aspekty diagnozy i leczenia transseksualizmu w warunkach polskich.

Transsexualism is a form of sexual identity disorder. In this disorder sexual identification psychological level is inadequate to biological level. One man out of 30000 and one woman out of 100000 ones is transsexual. The etiology of transsexualism has not been known yet. The treatment is complex and a cooperation of the specialist team is necessary. An operation is a second step after the diagnosis of transsexualism (psychological, psychiatric and sexological), hormonal therapy end Real Life Test. Follow-up therapy with the psychologist and supportive therapeutic group is extremely important after the operation.

[The effect of transdermal hormone replacement therapy on vasomotor symptoms in perimenopausal women]. / Wplyw przezskórnej hormonalnej terapii zastepczej na objawy wypadowe u kobiet w okresie okolomenopauzalnym.

About 30% of female population in Poland is already in the perimenopausal age. The North American Menopausal Society has defined the menopause as the permanent cessation of menstruation resulting from the loss of ovarian follicular activity. Perimenopausal period is often connected with vasomotor symptoms in women. In recent years, there has been a growing recognition among clinicians of the importance of learning more about how patients cope with the symptoms of their condition. The aim of the study was to evaluate the effect of hormone replacement therapy on vasomotor symptoms in perimenopausal women with the use of Kupperman Index. In a six-month (6 treatment periods, 28 days each) randomized study, 75 healthy postmenopausal women were assigned to receive 50 micrograms/day of continuous transdermal estradiol with sequential transdermal norethisterone acetate (NETA) in daily doses of 170 micrograms in a single transdermal patch. The average number of vasomotor symptoms per day measured with Kupperman Menopausal Index decreased from prestudy by over 90%. The substantial improvement in vasomotor symptoms assessed across time was apparent by week 12 of the treatment.

[Hormone replacement therapy--oral and transdermal administration]. / Hormonalna terapia zastepcza--podanie doustne i przezskórne.

Nowadays almost one third of women's life follows the cessation of menstruation. Therefore medical investigations are concerned with the improvement of women's quality of life in this period. Hormone Replacement Therapy is one of the possibilities of restoration women's premenopausal hormonal status. In the paper advantages and disadvantages of oral and transdermal administration of Hormone Replacement Therapy are presented.

[Family planning--the role of general practitioner in abortion prophylaxis]. / Planowanie rodziny--rola lekarza w profilaktyce aborcji.

According to World Health Organization, abortion is defined as an induced termination of pregnancy by use of medications or surgical interventions after implantation of the embryo and before the fetus is able to survive outside the maternal organism (before 22nd week of pregnancy). More than 75 millions of women experience unwanted pregnancy every year. Contraception for that group was either unavailable or the information about contraceptives use possibility was not efficient. Lack of conversation about family planning with the partner, rapes and inefficiency of contraceptives (8 to 30 millions women a year) might be other reasons. More than two-third such pregnancies are terminated by abortions. The number of women in reproductive age (15-44) is 1.38 million. Most of them are sexually active but not willing to have progeny. The decision of abortion is taken every year by 35 per 100 females (26 millions of legal abortions each year, 20 millions of illegal). By 1986, 36 countries introduced liberal abortion law that gives permission for abortion only for social, medical and personal reasons. The main law regulating the permission of abortion in Poland is a resolution of Family planning, embryo protection and conditions for conducting pregnancy termination from 1993, modified in 1997. In 1999, 151 abortion procedures were performed and that number is decreasing gradually. The development of so called "abortion basement", where unsafe abortion is usually performed, is a consequence of restrictive policy about the abortion law. In the last few years the holistic and individual approach to the patient has started to play an important role. Unfortunately, in the case of sexual education and knowledge of conscious family planning, medical services, and medical doctors especially, play only the minimal role. It seems to be essential in gynecological and general medicine practice to give information about different methods of family planning and protection against sexual transmitted diseases as well as to control patient's health when using contraceptives.

[Osteoporosis--pathogenesis and prophylaxis]. / Osteoporoza--patogeneza i profilaktyka.

Osteoporosis is defined as a systemic skeletal disease characterized by low bone mass and microarchitectural deterioration of bone tissue with a subsequent increase in bone fragility and susceptibility to fracture. In this paper some facts concerned with pathogenesis and prophylaxis of osteoporosis are presented.

[Influence of GnRH analogue on the intensification of endometriosis symptoms and infertility treatment]. / Wplyw analogu GnRH na stopien nasilenia objawów endometriozy oraz na rezultaty leczenia nieplodnosci.

OBJECTIVES AND STUDY DESIGN: The aim of this study was to evaluate the influence of the treatment with oral doses of 50 mg GnRH analogue on the intensification of endometriosis symptoms and infertility amongst women with evident symptoms of endometriosis in comparison with placebo group. A group of 34 women at the age from 18 to 45 were introduced into the study. The inclusion criteria for investigated population contained: endometriosis symptoms, endometriosis diagnosed by laparoscopy, its surgical or pharmacological treatment, negative pregnancy test score and regular menses. The patients were divided into 2 groups: investigated group and control group. Women completed "Diary" every day in which they estimated main endometriosis symptoms: dysmenorrhea, dyspareunia, pelvic pain and vaginal bleeding (according to Pain Grading Scale). The intensification of dysmenorrhea and vaginal bleeding was reduced in the investigated group in comparison with control one. These differences were statistically significant. Although the extremity of dyspareunia was decreased in two groups, this correlation was statistically significant only in the investigated group. Pelvic pain evaluation showed that its level was lower in the investigated group (p > 0.05). It was found that 11 women (investigated group) and 5 women (control group) got pregnant after the period of 12-week treatment. CONCLUSIONS: GnRH analogues have an efficient influence on the reduction of endometriosis symptoms. GnRH analogues could be used in the management of infertility.