Demographic differences in Down syndrome livebirths in the US from 1989 to 2006.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, CT 06030, USA.
Prenatal Diagnosis (Impact Factor: 2.68). 02/2011; 31(4):389-94. DOI: 10.1002/pd.2702
Source: PubMed

ABSTRACT To explore demographic differences in Down syndrome livebirths in the United States.
Using National Center for Health Statistics (NCHS) birth certificate data from 1989 to 2006 we analyzed Down syndrome livebirths after correcting for under-reporting. We created six subsets based on maternal age (15-34 and 35-49 years old); US regions, that is, Northeast, Midwest, South and West; marital status, (married, unmarried); education, ( ≤ 12 years, ≥ 13 years); race, (white, black); and Hispanic ethnicity, (non-Hispanic, Hispanic). We estimated expected Down syndrome livebirths assuming no change in birth certificate reporting. The percentage of expected Down syndrome livebirths actually born was calculated by year.
There were 72 613 424 livebirths from 1989 to 2006. There were 122 519 Down syndrome livebirths expected and 65 492 were actually born. The Midwest had the most expected Down syndrome livebirths actually born (67.6%); the West was lowest (44.4%). More expected Down syndrome livebirths were born to women who were 15 to 34 years old (61 vs 43.8%) and to those with ≤ 12 years education (60.4 vs 46.9%), white race (56.6 vs 37%), unmarried (56.0 vs 52.5%), and of Hispanic ethnicity (55.0 vs 53.3%).
The percentage of expected Down syndrome livebirths actually born varies by demographics.

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Background: Non-invasive methods to assess the foetal genome during pregnancy will provide new opportunities to offer pregnant women a more comprehensive genetic diagnosis of their established foetus. The aim of this study was to determine the presence and frequency of foetal cells in transcervical cell (TCC) mucus samples from pregnant women and determine their suitability for early prenatal diagnosis. Methods: Syncytiotrophoblasts in aspirated TCC mucus samples were identified by immunostaining with the foetal-specific antibody NDOG1. Genetic analysis of foetal cells was performed by laser capture microdissection and quantitative fluorescent PCR (QF-PCR). Results: In 116 of 207 (56%) TCC samples, abundant syncytiotrophoblasts were retrieved. However, when TCC samples were stratified for the presence of chorionic villous fragments, syncytiotrophoblasts were identified in 85 of 109 (78%) samples. Significant numbers of syncytiotrophoblasts were found in TCC samples collected between 6 and 9 weeks of gestation (mean 741, range 25-2884). QF-PCR analysis of NDOG1 positive syncytiotrophoblasts and matching maternal DNA confirmed their foetal origin and correct foetal cell sexing was achieved in 97% of TCC samples. The one discordant sex diagnosis was associated with a dizygotic dichorionic twin pregnancy resulting from the implantation of a female T21 embryo and a normal male embryo, where the female T21 foetus had succumbed at 6 weeks of gestation and was vanishing. Conclusions: Syncytiotrophoblasts can be successfully isolated from TCC samples and represent a suitable source of cells for genetic analysis of the established foetus in early pregnancy. The study highlights a vanishing twin as a potential cause for discordant non-invasive prenatal test results.
    Clinica Chimica Acta 09/2014; 438. DOI:10.1016/j.cca.2014.09.002 · 2.76 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: This paper assesses the implications of advanced maternal age on children and adults with Down syndrome and their families. From national and Tennessee-based data, mothers continue to be (on average) 4-5 years older at the birth of newborns with (vs. without) Down syndrome, with more mothers giving birth above age 35, fewer during their teens and early-to-mid 20s. Increased maternal age relates to higher levels of formal education, to more often being married at childbirth, and to less often divorcing. In population studies, more educated mothers also more often work outside the home, have husbands who actively participate in childrearing, and have families that provide their offspring greater financial and social resources. Though rarely examined, maternal-age correlates should also apply to persons with Down syndrome and their families. During childhood, more often having older, more educated parents-and less often having younger, less educated parents-should relate to more accurate caregiver assessments of the child's development; increased access to available services; and enhanced abilities to benefit from services. But once adults with Down syndrome reach their mid-40s, having parents who are 30+ years older may result in simultaneous health declines for these adults and for their parents, causing a pile-up of caregiving challenges for the family's adult siblings. Maternal age has much to do with offspring, parent, and sibling functioning during the offspring with Down syndrome's childhood and adult years.
    International Review of Research in Mental Retardation 04/2012; 42:109-145. DOI:10.1016/B978-0-12-394284-5.00005-X
  • [Show abstract] [Hide abstract]
    ABSTRACT: Objectives To analyse which dysmorphic features are most recognised in newborns with Down syndrome (DS). Furthermore to evaluate the communication techniques used by clinicians to inform parents about the postnatal diagnosis and compare these to current best practice guidelines.Study designProspective study of a birth cohort of newborns with DS born between 1 January 2003 and 31 December 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU).ResultsA total of 586 children with trisomy 21 were analysed. Most recognised dysmorphic features in DS newborns were ‘upslanted palpebral fissures’ (74.1%; n = 426), ‘hypotonia’ (73.7%; n = 424) and ‘epicanthic folds’ (68.5%; n = 394). The majority of parents were informed about the suspected diagnosis on the day of birth (76.5%; n = 390). Hospital deliveries had a significantly earlier suspected diagnosis (mean age 3–4 days) compared with home deliveries (mean age 7 days) (P < 0.05). In 10% (n = 44), paediatricians described dissatisfaction with the first conversation with parents. In 88.9% (n = 499) parents were both present when the diagnosis was told, however the child was not present during the conversation in 51.3% (n = 288). In 10.8% (n = 61) parents were not informed about local parent support groups or community resources.ConclusionDS is still often diagnosed after birth, usually on the first day of postnatal life. Most identified clinical features were upslanted palpebral fissures, epicanthic folds and hypotonia. Special attention for recognition of all present clinical features is needed for early diagnosis. Appropriate communication with the parents of the message that their child has DS can be difficult. Guidelines can help to make counselling easier and more effective, which in turn may increase parental satisfaction. Not all recommendations for the first conversation with parents were fully implemented in Dutch clinical practice.
    Journal of Intellectual Disability Research 04/2014; DOI:10.1111/jir.12125 · 2.41 Impact Factor