Epidemiological analysis of the schisis association in the Spanish registry of congenital malformations

Martínez‐Frías, Maria‐Luisa; Frías, Jaime L.; Bermejo, Eva; Rodríguez‐Pinilla, Elvira; Urioste, Miguel

doi:10.1002/(sici)1096-8628(19970502)70:1<16::aid-ajmg4>3.0.co;2-p

Cited by 20 publications

(13 citation statements)

References 11 publications

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“…8,25,26 Previous studies support this theory with the finding that infants with one midline defect often have more than one defect. 8,25 Additionally, familial clustering of midline defects has been reported 19,20,27 , which also supports a role of genetics in NTDs.…”

Section: Discussionsupporting

confidence: 53%

Surveillance survey of family history in children with neural tube defects

Dupépé¹,

Patel²,

Rocque

et al. 2017

PED

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OBJECTIVE Although there are known risk factors for the development of neural tube defects (NTDs), little is known regarding the role of family history. The authors' goal in this study is to describe the family history in their population of patients with NTDs. METHODS Surveys were completed for 254 patients who were accompanied by their biological mother during their annual visit to the multidisciplinary Spina Bifida Clinic at Children's of Alabama. An NTD has been diagnosed in all patients who are seen in this clinic (myelomeningocele, lipomeningocele, split cord malformation, and congenital dermal sinus tract). Each mother answered questions regarding known NTD risk factors and their pregnancy, as well as the family history of NTDs, other CNS disorders, and birth defects. RESULTS The overall prevalence of family history of NTDs in children with an NTD was 16.9% (n = 43), of which 3.1% (n = 8) were in first-degree relatives. In patients with myelomeningocele, 17.7% (n = 37) had a positive family history for NTDs, with 3.8% in first-degree relatives. Family history in the paternal lineage for all NTDs was 8.7% versus 10.6% in the maternal lineage. Twenty-two patients (8.7%) had a family history of other congenital CNS disorders. Fifteen (5.9%) had a family history of Down syndrome, 12 (4.7%) had a family history of cerebral palsy, and 13 (5.1%) patients had a family history of clubfoot. Fourteen (5.5%) had a family history of cardiac defect, and 13 (5.1%) had a family history of cleft lip or palate. CONCLUSIONS The family history of NTDs was 16.9% in children with NTD without a difference between maternal and paternal lineage. This high rate of positive family history suggests that genetics and epigenetics may play a larger role in the pathogenesis of NTD in the modern era of widespread folate supplementation.

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Section: Discussionsupporting

confidence: 53%

Surveillance survey of family history in children with neural tube defects

Dupépé¹,

Patel²,

Rocque

et al. 2017

PED

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“…Among these previously reported associations are facial duplication-anencephaly association, 23 anophthalmia-NTD association, 24 coloboma-microphthalmia-clefting syndrome, 25 laterality syndrome, 26 schisis association, 27 anterior encephalocele-anophthalmia syndrome, 28 and others. Hunter has made an extensive listing of the numerous syndromes and associations of NTDs and other anomalies.…”

Section: Discussionmentioning

confidence: 99%

Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State

Collins

Atkinson

Dean

et al. 2011

The Journal of Pediatrics

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Objective To assess the efficacy of folic acid (FA) supplementation and fortification in preventing neural tube defects (NTDs) in a high prevalence region of the US. Study design Active and passive surveillance methods were used to identify all fetuses/infants affected by an NTD in South Carolina. Prevalence rates were compared with FA intake to determine the effects of increased intake on NTD occurrence and recurrence. Results From 1992–2009, 916 NTD cases occurred in South Carolina with isolated defects comprising 79% of cases. The NTD rate decreased 58% during this period. There was one NTD-affected pregnancy among 418 subsequent pregnancies (0.2%) in mothers with previous NTD-affected pregnancies who consumed periconceptional FA supplements and four NTDs among 66 pregnancies (6.1%) in which the mother did not take FA supplements. Folic acid supplementation increased from 8% to 35% from 1992–2007 and knowledge of the protective benefits of FA increased from 8% to 65% in women of childbearing age. Conclusions Increased periconceptional intake of FA appeared to reduce NTDs in a high prevalence region. The rate of spina bifida and anencephaly in South Carolina is now essentially the same (0.69 cases per 1000 live births and fetal deaths) as the 1998–2005 US rate (0.69).

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“…The prenatal diagnosis of OEIS complex by ultrasound has been reported frequently7–9, 11, 12, 28–30, showing that fetal ultrasound can detect OEIS and distinguish it from other forms of abdominal wall defects. The differential diagnosis in prenatally diagnosed abdominal wall and neural tube defects, apart from OEIS, includes cloacal exstrophy sequence17, 31, limb–body wall complex32–34 and schisis association34, 35, although there is a significant clinical overlap between these conditions and they may represent a spectrum of developmental field defects, the etiology of which has not been defined. The main ultrasound findings on OEIS include omphalocele, low insertion of the umbilical cord, large midline infraumbilical anterior wall defect, lumbosacral myelomeningocele, usually skin‐covered, failure to visualize the urinary bladder, failure to visualize the external genitalia, and limb defects including abnormal position, such as clubfeet, or a missing limb.…”

Section: Discussionmentioning

confidence: 99%