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Biomedical subjects

Eva Alberman

Publications and source records attributed to Eva Alberman.

7 recordsLinked to original sources

Maternal age-specific fetal loss rates in Down syndrome pregnancies.

OBJECTIVES: Pregnancies affected by Down syndrome (DS) have a greater risk of spontaneous fetal loss than those that are unaffected. In this article, we investigate the relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies. METHODS: Fetal loss at different maternal ages were estimated by survival analysis using follow-up of 5177 prenatally diagnosed cases. The maternal age effect on loss rate was subsequently confirmed by a re-analysis of published comparisons of the maternal age-specific prevalence of DS at different gestational ages. RESULTS: The average fetal loss rate between the time of chorionic villus sampling (CVS) and term was 32% (95% CI: 26-38), increasing from 23% (95% CI: 16-31) for women aged 25 to 44% (33-56) for women aged 45. The average fetal loss rate between the time of amniocentesis and term was 25% (21-31), increasing from 19% (14-27) to 33% (26-45) across the same age range. CONCLUSION: The fetal loss rate in DS pregnancies increases with maternal age, and this has consequences when estimating the live birth prevalence of DS in the presence of prenatal diagnosis and termination, and when assessing the performance of prenatal screening techniques.

Aborted Fetus↗

Triploidy identified through second-trimester serum screening.

OBJECTIVES: To describe the maternal serum marker patterns of triploid pregnancies and estimate the second-trimester prevalence of triploidy. METHODS: Forty-two cases of triploidy were identified in six serum screening programmes, five in the United Kingdom, one in Canada. This study describes the serum marker patterns, serum screening results for Down syndrome, trisomy 18 and open neural tube defects, and maternal age of these triploidy cases. The risk cut-off levels were > or = 1 in 250 for Down syndrome, > or =2.5 MoMs alpha-fetoprotein for open neural tube defects and > or =1:100 for trisomy 18 screening. The estimated second-trimester prevalence of triploidy was based on 22 triploidy cases ascertained in 599 934 pregnancies from three routine screening programmes, which attempted complete ascertainment of aneuploidy cases. RESULTS: The observed second-trimester rate of triploidy was 0.37 per 10 000 fetuses. Two different serum marker patterns were seen in triploid pregnancies, distinguished from each other by typically very high or very low levels of total hCG or free beta-hCG. The median maternal ages were respectively 33 years for triploidy with human chorionic gonadotrophin levels < 1.0 MoM, and 26 years for those with hCG levels > or =1.0 MoM. Fifty-seven percent of the pregnancies with a triploid fetus had a risk estimate > or =1:100 for trisomy 18 alone, 10% had an alpha-fetoprotein > or =2.5 MoM, 5% were screen positive for Down syndrome alone, and 19% had an increased risk or positive results for more than one anomaly. CONCLUSION: The simultaneous use of maternal serum tests designed to screen prenatally for Down syndrome, neural tube defects, and an increased risk of trisomy 18 resulted in a screen-positive result for 90% of pregnancies with triploidy.

Adult↗

The use of record linkage for auditing the uptake and outcome of prenatal serum screening and prenatal diagnostic tests for Down syndrome.

OBJECTIVES: To pilot the use of linked routine records for auditing Down syndrome prenatal serum screening and diagnostic tests. METHODS: The cohort studied were 110 272 patients of 4 London maternity units that offered the Bart's maternal serum tests any time between 1990 and 1999. Audit was based on linked data derived from obstetric records, referral data on maternal serum screening and/or prenatal diagnoses. Cytogenetic reports without matching obstetric data were retained in the cohort as they included fetal deaths or terminations. RESULTS: (1) Significant independent influences on uptake of serum screening (58% overall) were maternal age, ethnicity, year and referring hospital, and those on uptake of prenatal diagnosis (4% overall) were screening result (54% uptake after positive screen), maternal age, year and referring hospital; (2) detection, false-positive rates and odds of being affected after positive results were respectively 49%, 4% and 1 : 59 between 1990 and 1994, and 78%, 7% and 1 : 58 after 1994. Using maternal age alone (cut-off > or =37 at delivery), these would have been respectively 40%, 7% and 1 : 96 between 1990 and 1994, and 40%, 9% and 1 : 107 between 1995 and 1999. CONCLUSIONS: Ongoing audit of DS prenatal programmes could be derived from computerised maternity data sets if they included fetal deaths, and relevant laboratory and ultrasound findings.

Adult↗

Prenatal screening for Down syndrome in England and Wales and population-based birth outcomes.

OBJECTIVE: Whether the introduction of antenatal screening for Down syndrome in England and Wales with serum biochemistry or ultrasound has led to improvements in patient outcomes is unknown. The purpose of this study was to relate pregnancy outcomes to the dominant method used for prenatal Down syndrome screening. STUDY DESIGN: For the years 1989 through 1999, England and Wales were divided into geographically defined areas where specific hospitals, health authorities, and cytogenetic laboratories provided maternity care for well-defined populations. For each year from 1989 through 1999, the dominant Down syndrome screening method that was used in each area was determined. Outcomes for area-years that used serum biochemistry or ultrasound (first or second trimester) were compared with area-years that used advanced maternal age as the dominant screening method. The percent of Down syndrome cases that were diagnosed prenatally (effectiveness) and the number of invasive prenatal tests that were performed to diagnose each Down syndrome case prenatally (efficiency) were compared. RESULTS: There were 5,980,519 births and 335,184 referrals for prenatal karyotyping (amniocentesis and chorionic villus sampling) that occurred in the area-years studied, of which 12,047 pregnancies were diagnosed as Down syndrome; 5393 cases of Down syndrome (45%) were diagnosed prenatally. Invasive testing increased from 4.4% of pregnancies in 1989 to 6.4% in 1997 and declined slightly in 1999 (5.8%). Prenatal diagnosis of Down syndrome cases rose from 28% in 1989 to 53% in 1999, and the number of invasive tests that were performed to diagnose each Down syndrome case fell from 89.7 to 47.7 (P [for trend]<.0001). Areas with serum or ultrasound as the dominant screening method detected 50% more Down syndrome cases in prenatally (52% and 53% vs 36%; P<.0001) and performed fewer invasive procedures to diagnose each Down syndrome case (60.7 and 52.0 vs 88.0; P<.0001) compared with areas in which advanced maternal age screening was dominant, despite serving populations with similar mean/median maternal ages. CONCLUSION: In clinical practice, screening programs for Down syndrome that were based on maternal serum biochemistry or ultrasound were more effective and efficient than the screening programs that used advanced maternal age alone.

Amniocentesis↗