Objective To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum free β-human chorionic gonadotropin (β-hCG)

No abstract

The objective of this study was to assess patient satisfaction with the investigation and initial management of infertility. A postal questionnaire survey was carried out of 1366 women attending outpatient clinics for the investigation and initial management of infertility at 12 hospitals throughout Scotland. The response rate to the questionnaire was 59% (806/1366). Overall, 87% of responders were satisfied or very satisfied with their care but a number of deficiencies were identified. Thirty-nine per cent had never been asked to bring their partner to the clinic and 86% felt they had not been given enough help with the emotional aspects of infertility. Forty-seven per cent felt they were not given a clear plan for the future and 23% of those who had been given drug treatments reported receiving little or no information about the treatment or possible side-effects. Overall, only a third had been given any written information and 78% expressed a wish for more written information. Women ranked 'the information and explanation given' and the 'attitude of the doctor at the clinic' highly in comparison to other aspects of their care, including 'help with the emotional aspects of infertility'. In general women were satisfied with their care but improvements may be made by giving more explanation and written information and by adopting a more couple-centred approach. Where resources allow, clinics should take steps to address the emotional aspects of infertility.

Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.

Mannan-binding lectin (MBL) is a plasma protein which, upon binding to microbial carbohydrate structures, elicits activation of the complement system. The level of MBL is genetically determined. It has been reported that the frequency of low plasma levels of MBL is increased in patients with unexplained recurrent miscarriages (RM). In the present study plasma MBL levels were determined in 146 Danish women with RM and 41 of their husbands together with 49 Scottish RM women and 41 of their husbands. In both countries MBL levels were also investigated in a total of 444 controls. Based on the control data, a cut-off MBL level < 50 ng/ml was selected to define MBL deficiency. The typical odds ratio for MBL deficiency among female patients in the two populations was 1.68 (95% confidence limits 1.01-2.80, P<0.05) whereas it was 1.57 (95% confidence limits 0.72-3.42, not significant) for the male partners of the patients. There was a significant correlation between the frequency of MBL deficiency in RM women and the number of previous miscarriages (P < 0.01), whereas no such correlation was found in the husbands. The results indicate that maternal MBL deficiency is associated with RM. Maternal MBL deficiency might impair the immune defence against microorganisms at the feto-maternal interface.

A sonographically isolated echogenic intracardiac focus (no other anomalies or markers noted on a complete genetic sonogram) was associated in our high-risk population with a 4.8-fold (95% CI: 1.8, 12.5) increase in RR for trisomy 21 (P =.002).

The aims of this study were to assess mental well-being in women undergoing investigation and initial management of infertility and to determine any specific factors, such as the duration or type of infertility, that might be associated with an increased risk of psychological morbidity. A postal survey was sent to 1080 women with infertility attending gynecology outpatient departments in 12 Scottish centres. The survey included the Twelve-Item General Health Questionnaire (GHQ-12) and three multi-item scales from the Short Form Health Survey Questionnaire (SF-36). The response rate was 47.4% (512/1080) of which 507 completed the GHQ-12. Of the 507 GHQ-12 responders, 32.5% had a GHQ-12 score of > or = 8/12 suggesting they were at risk of clinically significant psychological disturbance. There were no significant associations between GHQ-12 scores and duration of infertility, the presence of existing children, or the cause of infertility. GHQ-12 scores significantly increased with the number of clinic attendances and decreased as the patient's age increased. Responders scored significantly lower on all aspects of the selected SF-36 questions as compared to published population data, suggesting poorer mental health. These standardized psychological instruments suggest that approximately 32% of women in the early stages of infertility management may be at risk of developing clinically relevant mental health problems. Psychological aspects of infertility should be addressed as part of a more holistic approach to management of these patients.

The modified ISS and AAURA are equivalent in screening for Down syndrome, with detection of approximately half of all trisomy 21 fetuses at a 5% false-positive rate.