Femur and humerus length in trisomy 21 fetuses at 11–14 weeks of gestation

Longo, Daniela; Defigueiredo, D.; Cicero, S.; Sacchini, C; Nicolaides, Kypros H.

doi:10.1002/uog.970

Cited by 20 publications

(18 citation statements)

References 15 publications

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“…The growth restriction is possibly linked to genetic factors. This proposition is supported by ultrasound bone measurements at 11–14 weeks of gestation showing short femur lengths in fetuses with trisomy 21 24 . Abnormal bone development in trisomy 21 is thought to originate from genotype–phenotype interaction during embryonic development 5 .…”

Section: Discussionmentioning

confidence: 82%

Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age

Bertapelli

Agiovlasitis

Machado

et al. 2017

Journal of Epidemiology

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BackgroundThe growth of youth with Down syndrome (DS) differs from that of youth without DS, and growth charts specific to DS have been developed. However, little is known about the growth of Brazilian youth with DS. The objective of this study was to construct growth charts for Brazilian youth with DS and compare the growth data with the Child Growth Standards of the World Health Organization (WHO) and charts for children with DS from other studies.MethodsMixed longitudinal and cross-sectional data were collected at University of Campinas, 48 specialized centers for people with intellectual disabilities, and two foundations for people with DS between 2012 and 2015. A total of 10,516 growth measurements from birth to 20 years of age were available from 938 youth with DS (53.7% boys) born between 1980 and 2013. The Lambda Mu Sigma method was applied to construct the curves using generalized additive models for location, scale, and shape.ResultsLength/height-for-age, weight-for-age, and head circumference-for-age percentile curves were generated for Brazilian boys and girls from birth to 20 years of age. Differences in growth of Brazilian youth ranged from −0.8 to −3.2 z-scores compared to WHO standards, and −1.9 to +1.3 compared to children with DS in other studies.ConclusionsThese specific growth charts may guide clinicians and families in monitoring the growth of Brazilian children and adolescents with DS.

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Section: Discussionmentioning

confidence: 82%

Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age

Bertapelli

Agiovlasitis

Machado

et al. 2017

Journal of Epidemiology

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“…Fetal measurements are essential for assessing fetal age11, 14 and growth8, 27, and in fetal anomaly scanning2, 7. The measured parameter is related to a measurement chart, optimized for the purpose of the examination.…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, there have been several observations of apparently ‘shorter’ fetal parameters in newer measurement charts5–9, the findings being attributed to improved machines and technical development in general, and to different populations and measuring techniques, as well as to unreliable pregnancy dating.…”

Section: Introductionmentioning

confidence: 99%

Narrowed beam width in newer ultrasound machines shortens measurements in the lateral direction: fetal measurement charts may be obsolete

Økland

Bjåstad

Johansen

et al. 2011

Ultrasound in Obstet & Gyne

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“…Prenatal evidence suggesting changes in DS bone development has been derived from ultrasound measurements of the long bones [10]. During the second trimester, humerus and femur lengths are shorter, on average, in fetuses with DS and these measurements are used as a predictor for trisomy 21 [11, 12].…”

Section: Introductionmentioning

confidence: 99%

Disruption of bone development and homeostasis by trisomy in Ts65Dn Down syndrome mice

Blazek¹,

Gaddy²,

Meyer³

et al. 2011

Bone

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Down syndrome (DS) is a genetic disorder resulting from trisomy 21 that causes cognitive impairment, low muscle tone and craniofacial alterations. Morphometric studies of the craniofacial and appendicular skeleton in individuals with DS suggest that bone development and homeostasis are affected by trisomy. The Ts65Dn mouse model has three copies of approximately half the genes found on human chromosome 21 and exhibits craniofacial skeletal and size differences similar to those observed in humans with DS. We hypothesized that Ts65Dn and euploid mice have distinct differences in bone development and homeostasis influencing both the craniofacial and appendicular skeletal phenotypes. Quantitative assessment of structural and mechanical properties of the femur in Ts65Dn and control mice at 6 and 16 weeks of age revealed significant deficiencies in trabecular and cortical bone architecture, bone mineral density, bone formation, and bone strength in trisomic bone. Furthermore, bone mineral density and dynamic dentin formation rate of the skull and incisor, respectively, were also reduced in Ts65Dn mice, demonstrating that trisomy significantly affects both the craniofacial and appendicular skeleton.

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Femur and humerus length in trisomy 21 fetuses at 11–14 weeks of gestation

Abstract: Objective To determine the value of measuring fetal femur and humerus length at 11-14 weeks of gestation in screening for chromosomal defects. Methods

Cited by 20 publications

References 15 publications

Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age

Growth charts for Brazilian children with Down syndrome: Birth to 20 years of age

Narrowed beam width in newer ultrasound machines shortens measurements in the lateral direction: fetal measurement charts may be obsolete

Disruption of bone development and homeostasis by trisomy in Ts65Dn Down syndrome mice

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