Trisomy 18 with total cranio‐rachischisis and thoraco‐abdominoschisis

Donaldson, Susan J. F.; Wright, Colleen A.; Ravel, Thomy J. L. de

doi:10.1002/(sici)1097-0223(199906)19:6<580::aid-pd583>3.3.co;2-b

Cited by 5 publications

(7 citation statements)

References 9 publications

(12 reference statements)

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“…This supports the possibility of underlying chromosomal abnormality, in particular, trisomy 13 and 18. Chromosomes 13 and 18 are associated with NTD, mainly spina bifida (Chen et al 1996(Chen et al , 2001Bird et al 1997;Donaldson et al 1999;Luo et al 2000;O'Reilly & Shields 2000). However, trisomy 13 is seen more commonly with holoprosencephaly or arhinencephaly and rarely with iniencephaly.…”

Section: Discussionmentioning

confidence: 99%

Iniencephaly and chromosome mosaicism: A report of two cases

Halder

Agarwal

Pandey

2005

Congenital Anomalies

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We report here two iniencephaly fetuses with chromosome mosaicism. The first fetus (22 weeks) was male with mosaic trisomy 13, and the second fetus (24 weeks) was female with mosaic monosomy X. The first fetus had anencephaly, facial clefting, left-sided rocker bottom foot, equinovarous deformity, bilateral simian crease of hands and horseshoe kidney in addition to iniencephaly. The second fetus had hydrops fetalis with cystic hygroma in addition to iniencephaly. Because the fetuses were sent in formalin, conventional chromosomal analysis was not possible in spite of strong indication. Interphase fluorescence in situ hybridization (FISH) was carried out for targeted aneuploidy analysis. This is fourth published report of chromosomal abnormality in iniencephaly.

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Section: Discussionmentioning

confidence: 99%

Iniencephaly and chromosome mosaicism: A report of two cases

Halder

Agarwal

Pandey

2005

Congenital Anomalies

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“…While less common than heart or genitourinary malformations, OMPs and NTDs more commonly occur in trisomy 18 patients than the general population. In the general population, NTDs and OMPs occur at 0.0001 and 0.01%, respectively, compared to 6–21% and 4–9% in trisomy 18 (Donaldson et al, ; Rosa et al, ; Springett et al, ; Wald & Sneddon, ). Even conservative incidence rates in trisomy 18 are orders of magnitude higher than general population rates.…”

Section: Discussionmentioning

confidence: 99%

“…Other chromosomal genes have been documented in the failure of neural tube closure. TFAP2A ( AP2 ) on chromosome 6, LPP1 ( VANGL2 ) on chromosome 1, and many genes involved in folate metabolism are some examples (Blom & Smulders, ; Donaldson et al, ; Mills et al, ; Murdoch, Doudney, Paternotte, Copp, & Stanier, ; Pangilinan et al, ). Juriloff and Harris () indicated 200 genes involved in NT closure in mice.…”

Section: Discussionmentioning

confidence: 99%

“…Counties not practicing folate supplementation consequently have higher NTD baseline incidences (Chen, ; Savva et al, ). Current estimates of NTD prevalence in trisomy 18 patients are 6–25%, compared to 0.0001% in the general population (Botto et al, ; Donaldson, Wright, & de Ravel, ; Rosa et al, ; Springett et al, ). These sources report meningomyelocele and lumbosacral spina bifida, not CRN, as the most commonly associated NTD with trisomy 18.…”

Section: Introductionmentioning

confidence: 99%

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A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case

Tobin

Gunaji

Walsh

et al. 2019

American J of Med Genetics Pt A

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Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0-2% versus 0.0206%, spina bifida 1-3% versus 0.0350%, and encephalocele 0-2% versus 0.0082% [Parker et al. (2010); Birth Defects Research. Part A: Clinical and Molecular Teratology, 88:1008-1016; Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. We report the third published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts.

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“…However, the incidence in India is more and in northern India the incidence is about 3.9/1000 births [5]. [11], craniorachischisis [12] or syndromic NTD [13]. However, trisomy 13 is seen more commonly with holoprosencephaly [14] or arhinencephaly than NTDs.…”

Section: Neural Tube Defectmentioning

confidence: 99%