Does vaginal bleeding influence first-trimester markers for Down syndrome?

OBJECTIVES: To examine the effect of early vaginal bleeding on first-trimester screening markers for Down syndrome. METHODS: A retrospective study was conducted on 1755 normal singleton fetuses that underwent first-trimester combined screening for Down syndrome on the basis of ultrasound and maternal serum markers. Fetal delta-nuchal translucency (NT), maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG were compared between pregnancies with (n = 252) and without (n = 1503) an episode of vaginal bleeding. Subgroup analysis for the intensity of bleeding (spotting n = 191; light n = 32; heavy n = 29) was performed. RESULTS: The median +/- SD (log(10)) for delta-NT, multiple of medians (MoM) PAPP-A and MoM free beta-hCG (corrected for maternal weight, smoking and ethnicity) was - 0.17 +/- 0.62, 1.10 +/- 0.28, 1.1 +/- 0.28 and - 0.15 +/- 0.51, 0.98 +/- 0.26, 0.94 +/- 0.3 in pregnancies with and without a history of early vaginal bleeding, which were not significantly different. Exclusion of patients with spotting from the vaginal bleeding group revealed significantly higher maternal serum free beta-hCG MoM values (median +/- SD (log(10))) compared to patients without bleeding, 1.29 +/- 0.27 vs 0.96 +/- 0.3(p = 0.011). Screen-positive (cut off of 1:350) rate after combined first-trimester screening was 28.1% in patients with light vaginal bleeding and 8.4% in patients without bleeding (p = 0.001). CONCLUSIONS: Light vaginal bleeding before first-trimester combined screening for Down syndrome leads to a higher screen-positive rate after combined first trimester screening, without a significant difference in serum levels of the screening markers.     

Should hysteroscopy be provided for patients who have undergone instrumental intrauterine intervention after delivery?

We investigated the frequency of pathology, especially intrauterine adhesions, after instrumental evacuation within 24 h of delivery in a prospective observational intervention study on 100 women where a 'see and treat' hysteroscopy was performed after three to four months. There were two possible etiology groups: intrauterine adhesions [classified according by European Society for Gynaecological Endoscopy (ESGE) grades I-IV] and residual tissue (classified as minimal and considerable). Adhesions were found in 18% of patients, as follows: ESGE I-II in 13% and ESGE III-IV in 5%. Residual tissue was present in 33%, as follows: minimal in 23% and considerable in 10%. There were 6% who had both mild adhesions and minimal residual tissue, while 43% of the women had normal intrauterine findings. Of the women, 32% were symptomatic (spotting, bleeding). Only residual tissue correlated with symptoms (r=0.376; p<0.001). There is a high prevalence of acquired intrauterine pathology (57%) in women who require early instrumental evacuation.     

How important is consent in maternal serum screening for Down syndrome in France? Information and consent evaluation in maternal serum screening for Down syndrome: a French study

OBJECTIVES: To evaluate the level of information and informed consent for maternal serum screening (MSS) for Down syndrome (DS) in the second trimester of pregnancy and analyse the exercise of autonomy towards the test by the women concerned. METHODS: We studied the population of pregnant women attending obstetric consultations in two French hospitals over a 3-month period. The women were assigned to three groups according to MSS results for DS: women at high risk of having a child with DS (group 1), women at low risk (group 2) and women who did not undergo the test (group 3). A questionnaire was completed before the medical consultation, to assess the quality of consent before amniocentesis for the group at high risk and before the second-trimester ultrasound scan for the other two groups. RESULTS: We analysed 305 questionnaires for 89, 137 and 79 women belonging to groups 1, 2 and 3 respectively. In total, 123 women (40.3% [IC 95%, 35-46%]) were considered to be well informed; 33 (10%, [IC 95%, 8-12%]) had a high level of knowledge, but made choices not consistent with their stated attitude, and 149 (49.7% [IC 95%, 45-56%]) were considered uninformed. Logistic regression analysis showed that maternal consent depended on three independent components: The score attributed to the doctor for information about MSS (t = 4.216, p < 0.001).Whether the patient belonged to group 1 (t = -2.631, p < 0.009).Educational level (< high-school diploma, high-school diploma or at least two years of higher education after high school) (t = 2.324, p < 0.02). The rate of consent increased with educational level and was highest for the women in group 1 and for those whose doctor had a high information score. CONCLUSIONS: Our findings clearly show that women are provided with insufficient information concerning MSS screening for DS in the second trimester of pregnancy for real and valid consent to be obtained.     

Do characteristic spermatozoal morphological abnormalities exist in patients who have undergone unilateral orchiectomy and preventive radiotherapy?

DESIGN: We examined 16 men who had been subjected to unilateral orchiectomy owing to seminoma and to preventive radiotherapy, in order to investigate the morphologic abnormalities of the spermatozoa (headless and small-round-headedness) that may contribute to infertility. RESULTS: The same morphologic abnormalities of the head and neck found in the semen samples of fertile men were also found in the semen samples of the patients, albeit in higher percentages; the morphologic abnormalities of the tail in the semen samples of the patients were similar to those of the fertile men, both qualitatively and quantitatively. CONCLUSION: No specifically characteristic morphologic abnormalities of the spermatozoa were detected in men who were subjected to unilateral orchiectomy and to preventive radiotherapy in comparison with fertile men. The percentage rate of morphologic tail abnormalities is not affected by preventive radiotherapy.     

Prenatal screening for Down syndrome: a dilemma for the unsupported midwife?

OBJECTIVE: To explore the personal and professional concerns of midwives in relation to their experiences with women undergoing serum screening for Down syndrome. DESIGN: Semi-structured interviews. SETTING: A consultant-led maternity unit in the south of England. PARTICIPANTS: Ten midwives based in areas which most commonly support women undergoing this test. METHODS: Interviews were recorded and transcribed and a grounded theory approach involving coding was used to identify categories which were analysed. FINDINGS: Themes identified were: education needs on introduction of the test and in relation to current research about the test; strategies for explaining the concept of 'risk'; personal and professional conflict in relation to the dilemmas raised. KEY CONCLUSIONS: Accurate information (including psychosocial aspects) should be available to midwives prior to the introduction of potentially complex investigations. Continuing education should prepare midwives to meet the challenges related to prenatal screening for Down syndrome. Some strategies which could be considered include the use of reflection sheets, prompt cards and case studies or vignettes. Interprofessional education could provide the opportunity to increase understanding of individual roles and the conflicts experienced.     

Maternal serum screening for Down syndrome: are women's perceptions changing?

Objectives  To document trends in serum screening for Down's syndrome.
Background  Trends in the uptake of serum screening for Down syndrome have not been documented in a UK population.
Design  A retrospective review of the rate of uptake in a unit that has offered serum screening for Down syndrome to all pregnant women.
Setting  A large north of England hospital that has offered universal Down syndrome screening using the 'triple test' since 1992.
Patients  A total of 47 998 women who booked for antenatal care.
Main outcome measures  Uptake of serum screening for Down syndrome.
Methods  The results of the screening programme were contemporaneously recorded on a computer database, and the study team accessed the data.
Results  There was a significant reduction in the uptake of serum screening for Down syndrome from a maximum of 82.6% in 1993 to 41.4% in 2005. There was a significant but small trend upwards in the age of women accepting screening and also a significant trend in the increase in the screen-positive rates.
Conclusions  The reduction in uptake of Down syndrome screening over the past 13 years must be taken into account when planning a screening programme. Other units should be encouraged to review their rate of uptake to determine if our data are representative of a wider trend.     

First trimester combined test for Down syndrome screening in unselected pregnancies — A report of a 13-year experience

ObjectiveTo analyze the performance of the first trimester Down syndrome screening in a single medical center in Northern Taiwan.Materials and methodsFrom April 1999 to June 2012, a total of 25,104 pregnant women at gestational age of 10 weeks to 13 weeks 6 days received first trimester “combined test” for Down syndrome screening. The test combines the ultrasound scan of nuchal translucency thickness and maternal biochemical serum levels of pregnancy-associated plasma protein A (PAPP-A) and free beta-human chorionic gonadotropin (β-hCG). A positive screen was defined as an estimated Down syndrome risk ≥1/270, and either chorionic villous sampling or amniocentesis was performed for fetal chromosomal analyses.ResultsSeventy-eight of the 25,104 pregnancies were proven to have fetal chromosome anomalies. The detection rates for trisomy 21, trisomy 18, Turner syndrome, and other chromosome anomalies were 87.5% (21/24), 69.2% (9/13), 81.8% (9/11), and 60% (18/30), respectively, with a false positive rate (FPR) of 5.4% (1353/25,026). Further evaluation of the detection rates for trisomy 21, by gestational age at 11, 12, and 13 weeks, were 92.3%, 87.5%, and 66.7%, respectively.ConclusionThe first trimester combined test is an effective screening tool for Down syndrome detection with an acceptable low false positive rate. The best timing of screening will be between 11 and 12 weeks' gestation.     

Do women prefer to have screening tests for Down syndrome that have the lowest screen-positive rate or the highest detection rate?

OBJECTIVE: To assess whether women have a preference for Down syndrome screening test performance. METHODS: A structured questionnaire exploring women's preferences for screening test performance was administered to women attending their first prenatal visit who wished to have Down syndrome screening performed. RESULTS: One hundred and twenty women were interviewed. The majority of women (n=80) chose a screening test with a low screen-positive rate rather than the highest detection rate. The reasons given for this preference were a desire to minimise the risk of miscarriage of a normal baby and a belief that a detection rate of 80 to 90% was acceptable. However, older women (>37 years) chose a test with the highest detection rate possible, regardless of the higher screen-positive rate, preferring to miscarry a normal baby as a result of a diagnostic test rather than miss the detection of a baby with Down syndrome. Preferences were not influenced by previous screening experience. CONCLUSIONS: Women express different preferences for screening test performance. Maternal age rather than previous screening experiences appears to be the major influence in these choices.     

Could ovarian choriocarcinoma be detected by maternal serum screening for Down syndrome?

The incidence of ovarian malignancies during gestation ranges from 1 in 8000 to 1 in 20,000 deliveries. Ovarian malignancies that produce human chorionic gonadotropin (hCG) are limited to germ cell tumors, of which dysgerminoma is the most frequent (45%) malignant type encountered in pregnant patients, the others being ovarian choriocarcinoma and mixed germ cell tumors (Boulay and Podczaski, 1998). In women of childbearing age, it is hard to distinguish between metastatic choriocarcinoma on a complete mole and primary ovarian choriocarcinoma. Treatment is based on adnexectomy followed by chemotherapy. Given the extreme rarity of these tumors, the long-term prognosis is difficult to establish. Had the diagnosis for our patient been made during pregnancy, the therapeutic approach would have been discussed in terms of gestational age. In the last trimester, we could have suggested cesarean section followed by adnexectomy, and then chemotherapy. In the second-trimester, chemotherapy could have been discussed, although the fetal toxicity of cisplatin chemotherapy is not firmly defined (Ferrandina et al., 2005). This treatment is an alternative to termination of pregnancy. We retrospectively studied maternal serum biochemistry so as to assess the possibility of a diagnosis of ovarian choriocarcinoma at the time of maternal serum screening for Down syndrome.