Centre-specific ultrasound nuchal translucency medians needed for Down syndrome screening.

Nuchal translucency (NT) measurements were compared between 13 centres participating in a multi-marker Down syndrome screening program. Results from 4765 women were analysed, and there were highly statistically significant between-centre differences after allowing for gestation (P < 0.0001).

Compromise ultrasound dating policy in maternal serum screening for Down syndrome.

Routine ultrasound biometry is the method of choice for gestational dating when screening for Down syndrome. However, it is costly and an alternative policy is to restrict ultrasound to women most likely to have menstrual dating errors. This was evaluated by statistical modelling with parameters from 14,274 women screened between January 1997 and July 2001 using free beta-human chorionic gonadotrophin (free beta-hCG), alpha-fetoprotein (AFP) and unconjugated estriol (uE(3)).

Familial Down syndrome: evidence supporting cytoplasmic inheritance.

The frequently observed familial aggregation of Down syndrome (DS) 47,+21 and other aneuploidies and the phenomenon of double aneuploidy involving DS cannot be accounted for by chance alone. To clarify possible aetiological factors, pedigrees from all 7 affected families with repeated marriages referred to two regional genetics centres were examined. In each case the recurrence of aneuploidy was on the mother's side (p<0.

Descriptive information about Down syndrome: a content analysis of serum screening leaflets.

It is recommended practice that prior to prenatal screening, women receive information about the condition(s) being tested for. The present study critically evaluated information about Down syndrome as contained in 80 leaflets provided to pregnant women in the UK prior to serum screening. First, a content analysis by information type was conducted to give an overall picture of the material provided.

Use of videotapes for viewing at home to inform choice in Down syndrome screening: a randomised controlled trial.

A randomised trial was carried out to assess the effect of a Down syndrome screening video on test uptake, knowledge and psychological stress. A total of 2000 women referred for antenatal care were allocated to two equal groups: one to be sent a video to their home, before their hospital booking visit, and a control group. All women also received screening information in the form of a leaflet before booking and from a midwife at booking.

Maternal serum human chorionic gonadotrophin levels in systemic lupus erythematosus and antiphospholipid syndrome.

Maternal serum human chorionic gonadotrophin (hCG) levels were measured during the second and the third trimesters of pregnancy in patients with either systemic lupus erythematosus (SLE) or primary antiphospholipid syndrome (APS). All results were expressed in multiples of the gestation-specific normal medians (MoM). The median MoM level in 17 samples from SLE patients was 1.

Quality of written information used in Down syndrome screening.

A qualitative assessment was performed on 81 leaflets used in maternal serum Down syndrome screening from National Health Service (NHS) obstetric units and private screening services. Quality was assessed by factual content, presentation and reading ease and this was amalgamated into a single overall score expressed as a percentage of the maximum possible score. Eleven (14%) leaflets included all eight factual items recommended by the Royal College of Obstetricians and Gynaecologists (RCOG); only one included these and a further nine items recognised as important to the consumer.

Current awareness in prenatal diagnosis.

In order to keep subscribers up-to-date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre-implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology.

Serum inhibin A levels in pregnant women with systemic lupus erythematosus or antiphospholipid syndrome.

Maternal serum inhibin A levels are increased on average in pregnancies affected by Down syndrome (DS). However, some reports have found increased serum levels in women with pre-eclamptic toxaemia as well. In the current study, maternal serum inhibin A was retrospectively measured in a series of 32 serum samples from pregnant women previously diagnosed as having either systemic lupus erythematosus (SLE) or primary antiphospholipid syndrome (APS).

Maternal urine hyperglycosylated hCG in pregnancies with Down syndrome.

Stored maternal urine samples were used to determine the distribution of hyperglycosylated human chorionic gonadotrophin (H-hCG) levels in pregnancies with Down syndrome. A total of 349 samples from singleton pregnancies, including 45 with Down syndrome, were tested at 10-19 weeks' gestation. Urinary concentration was allowed for by expressing H-hCG in ng per mmol creatinine.

Calculating correct Down's syndrome risks.

Women having both first trimester nuchal translucency and second trimester serum screening tests are likely to receive two different Down's syndrome risks. Neither will be correct, and we describe how to calculate a valid combined risk. This uses the reported serum-based risk and a likelihood ratio derived from the nuchal translucency report.

Maternal serum activin A and follistatin levels in pregnancies with Down syndrome.

Inhibin A is now an established second-trimester maternal serum marker of Down syndrome. Since activin A has a common beta-subunit to inhibin A we evaluated this substance and its binding protein, follistatin, as potential markers. We studied 30 affected and 199 unaffected pregnancies at 13-16 weeks' gestation.

The effect of smoking in pregnancy on maternal serum inhibin A levels.

To assess the effect of smoking on maternal serum, second-trimester inhibin A levels, we studied a database of 1277 women undergoing antenatal serum screening. There were 75 smokers, 1008 non-smokers and 194 women in whom smoking status was undetermined. All groups were matched for age, gestation and parity.

Measures of urine concentration in maternal urine screening for Down syndrome.

A study was carried out to assess eight methods of normalizing the level of urinary beta-core human chorionic gonadotropin (hCG) for variable urine concentration. We compared the standard approach--creatinine determination by the Jaffe method--with high performance liquid chromatography (HPLC) measurement of creatinine, osmolarity and optical density at five wavelengths. Urine samples were included from a total of 472 women with unaffected singleton pregnancies at 15 weeks' gestation.

Maternal serum inhibin A can predict pre-eclampsia.

Objective: To compare median levels of maternal serum inhibin A in the second trimester blood samples of women who subsequently develop pre-eclampsia and those who do not.

Design: Retrospective analysis of 13 18 week samples from a bank of serum stored at -40 degrees C, originally taken for Down's syndrome screening.

Setting: Antenatal clinics in a teaching hospital.

Nomograms to help inform women considering Down's syndrome screening.

Objective: To derive graphical information for use in counselling women considering whether or not to have maternal serum screening for Down's syndrome.

Design: Statistical modelling of the frequency distribution of estimated Down's syndrome risk for four marker combinations.

Results: Nomograms are provided showing for each maternal age: (a) the detection and false-positive rates, and (b) the proportion of pregnancies with different estimated risks.

Antenatal screening for cystic fibrosis.

Objective: To assess the practicality of implementing antenatal screening for cystic fibrosis in Yorkshire.

Design: Prospective study in which all pregnant women were offered testing for the delta F508 mutation which accounts for about 85% of carriers in Yorkshire. The reproductive partners of those found to be cystic fibrosis carriers were then tested and any carrier referred for genetic counselling.