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Objectives The aim of the study was to compare maternal characteristics and pregnancy outcomes in women aged < 40 years and ≥ 40 years in a large unselected population of HIV-positive women delivering in the UK and Ireland between 2000 and 2014. Methods Comprehensive population-based surveillance data on all HIV-positive pregnant women and their children seen for care in the UK and Ireland are collected through the National Study of HIV in Pregnancy and Childhood. All singleton and multiple pregnancies reported by the end of June 2015 resulting in live birth or stillbirth to women diagnosed with HIV infection before delivery and delivering in 2000−2014 were included. Logistic regression models were fitted in analyses examining the association between older maternal age and specific outcomes (preterm delivery and stillbirth). Results Among 15 501 pregnancies in HIV-positive women, the proportion in older women (≥ 40 years) increased from 2.1% (73 of 3419) in 2000−2004 to 8.9% (510 of 5748) in 2010−2014 ( P < 0.001). Compared with pregnancies in younger women, those in older women were more likely to result in multiple birth (3.0 vs. 1.9% in younger women; P = 0.03), stillbirth (adjusted odds ratio 2.39; P = 0.004) or an infant with a chromosomal abnormality (1.6 vs. 0.2%, respectively; P < 0.001). However, there was no increased risk of preterm delivery, low birth weight or mother-to-child HIV transmission among older mothers. Conclusions There has been a significant increase over time in the proportion of deliveries to women living with HIV aged ≥ 40 years, which has implications for pregnancy management, given their increased risk of multiple births, stillbirth and chromosomal anomalies, as also apparent in the general population. [ABSTRACT FROM AUTHOR]

Objectives: Cell-free DNA (cfDNA) analysis of maternal blood for detection of trisomies 21, 18 and 13 is superior to other methods of screening but is expensive. One strategy to maximize performance at reduced cost is to offer cfDNA testing contingent on the results of the first-trimester combined test that is used currently. The objectives of this study were to report the feasibility of implementing such screening, to examine the factors affecting patient decisions concerning their options for screening and decisions on the management of affected pregnancies and to report the prenatal diagnosis of fetal trisomies and outcome of affected pregnancies following the introduction of contingent screening.Methods: We examined routine clinical implementation of contingent screening in 11,692 singleton pregnancies in two National Health Service (NHS) hospitals in the UK. Women with a risk ≥ 1 in 100 (high-risk group) were offered options of invasive testing, cfDNA testing or no further testing, and those with a risk between 1 in 101 and 1 in 2500 (intermediate-risk group) were offered cfDNA testing or no further testing. The trisomic status of the pregnancies was determined by prenatal or postnatal karyotyping or by examination of the neonates.Results: In the study population of 11,692 pregnancies, there were 47 cases of trisomy 21 and 28 of trisomies 18 or 13. Screening with the combined test followed by invasive testing for all patients in the high-risk group potentially could have detected 87% of trisomy 21 and 93% of trisomies 18 or 13, at a false-positive rate of 3.4%; the respective values for cfDNA testing in the high- and intermediate-risk groups were 98%, 82% and 0.25%. However, in the high-risk group, 38% of women chose invasive testing and 60% chose cfDNA testing; in the intermediate-risk group 92% opted for cfDNA testing. A prenatal diagnosis was made in 43 (91.5%) pregnancies with trisomy 21 and all pregnancies with trisomies 18 or 13. In many affected pregnancies the parents chose to avoid testing or termination and 32% of pregnancies with trisomy 21 resulted in live births.Conclusions: Screening for fetal trisomies by cfDNA analysis of maternal blood, contingent on the results of the combined test, can be implemented easily in routine clinical practice. In the high-risk group from the combined test, most but not all women chose cfDNA testing rather than invasive testing. Performance of screening for trisomy 21 was superior by the cfDNA test than by the combined test. However, prenatal detection of trisomies and pregnancy outcome depend not only on performance of screening tests but also on parental choice. [ABSTRACT FROM AUTHOR]

Self-injurious and aggressive behaviours are reported as components of some behavioural phenotypes but there are few studies comparing across syndrome groups. In this study we examined the prevalence of these behaviours and the associated person characteristics in seven genetic syndromes. Questionnaire data on self-injury and aggression, mood, hyperactivity, autism spectrum disorder and repetitive behaviour were collected on Angelman (AS, n = 104), Cornelia de Lange (CdLS, 101), Cri du Chat (CdCS, 58), Fragile X (FXS, 191), Lowe (LS, 56), Prader-Willi (PWS, 189) and Smith-Magenis (SMS, 42) syndromes. A significantly higher prevalence of self-injury was evident in CdCS, CdLS, FXS, PWS, LS and SMS. The prevalence of aggression was significantly heightened in AS and SMS. Self-injury was associated with repetitive and impulsive behaviour in CdLS, FXS, PWS and LS. Impulsivity and overactivity were significantly higher in those showing aggression across all syndrome groups. These data quantify the risk for self-injury and aggression in the syndromes studied with implications for early intervention. The associations between these behaviours and person characteristics both within and between syndromes warrant further research. [ABSTRACT FROM AUTHOR]

The article presents a study which examines the association between isolated single umbilical artery (SUA) diagnosed during the routine second-trimester scan and chromosomal abnormalities in Great Britain. A search of the database to retrieve cases with an SUA were performed and ultrasound findings, fetal karyotype, and pregnancy outcome were reviewed. Results of the study revealed a high association between an SUA and chromosomal abnormalities which is most commonly trisomy 21.

A major application of array comparative genomic hybridization (aCGH) is to define a specific cause in children with undiagnosed learning and developmental disability (LDD). Medical notes for 46 consecutive patients selected for aCGH analysis by clinical dysmorphologists were abstracted for clinical investigations related to LDD and a cost-consequences analysis was performed. aCGH analysis was completed in 36 cases and five diagnostic chromosomal anomalies were identified (13.8%). The number of investigations undertaken on each child varied. With aCGH estimated to cost £590 per case, if aCGH had been undertaken after negative standard initial tests for LDD investigation, the additional cost would be £2399 per positive case. If the cost of aCGH was reduced to £256 per case (∼€350), aCGH becomes cost neutral. All chromosomal anomalies detected by aCGH had a de Vries score of ≥5. If aCGH had only been used for individuals with a score of ≥5, the sensitivity increased to 21.7% yielding a cost of £1087 per positive case identified. Pre-selection of cases for aCGH based on de Vries criteria has a major economic impact on introducing aCGH into clinical practice. Prospective studies are required to explore the long-term costs and consequences of aCGH and identify when aCGH may provide the most benefit at least cost. [ABSTRACT FROM AUTHOR]

Objective To ascertain, by means of a questionnaire, women's preferences for four different approaches to prenatal screening for Down syndrome. Methods Women attending antenatal clinics at six UK maternity units were asked to put in order of preference four different approaches to screening for Down syndrome all of which had the same false positive rate of 5%. The options were: (1) first-trimester testing, 90% detection of Down syndrome with results available in 1 h at one-stop clinics for the assessment of risk (OSCAR); (2)first-trimester testing, 90% detection and results available within 2–3 days (combined screening); (3) first-trimester testing plus second-trimester testing, 93% detection and results available within 2–3 days of second test (integrated testing); (4)second-trimester testing, 75% detection and results available within 2–3 days. Results Over 1100 women attending antenatal clinics at six maternity units across the UK returned the questionnaire. A total of 75% of women selected a first-trimester test (option 1 or option 2) as their first choice with 68.2% expressing a preference for the OSCAR approach and a further 6.8% for combined screening. Twenty-four percent of women opted for integrated testing as their first choice with only 1% expressing a preference for second-trimester screening. Conclusions A first-trimester test is preferred by the majority of women over a test with marginally higher detection rate that delivers results later in pregnancy. Timing and rapid reporting of results appear to influence women's choice of test. [ABSTRACT FROM AUTHOR]

Objective To evaluate the management of pregnancies where the fetus was found to have one or more sonographic markers of possible fetal chromosomal abnormality. Design Prospective anonymous postal survey of UK obstetric ultrasound units. Main outcome measures The management of pregnancies where the fetus is found to have a sonographic marker of aneuploidy. Population All 252 maternity ultrasound units in the United Kingdom. Methods Postal questionnaire to the superintendent sonographer in routine maternal ultrasound departments. Results Questionnaires were returned from 179 maternity units (71%). Of the respondents 94% offered a fetal anomaly scan at 16–20 weeks' gestation and 59% performed a dating scan at 10–14 weeks. Screening for Down syndrome was available in 99% of all maternity units.The recognition of sonographic ‘soft signs’ for possible fetal chromosomal abnormality varied considerably between the units. When sonographers were asked about their unit's policy regarding offering amniocentesis to women with sonographic markers, 8–78% discussed amniocentesis when the marker was isolated and 53–88% when another abnormality was found.Eighty nine percent of units documented the abnormal ultrasound findings in the hospital notes and 88% of the women were informed of the findings regardless of the intention to offer amniocentesis. Conclusion The practice of routine ultrasound examination is well established in UK, though precise policies vary. The existing wide variations in management policies possibly reflect a lack of data derived from low risk populations. There is a need to collect such data from low risk populations with known screening practices so that national guidelines to standardize practice can be formulated. [ABSTRACT FROM AUTHOR]