Ultrasound Screening for Spina Bifida: Cranial and Cerebellar Signs

Nicolaides, Kypros H.; Gabbe, S.G.; Campbell, Stuart; Guidetti, Roberto

doi:10.1016/s0140-6736(86)91610-7

Cited by 388 publications

(255 citation statements)

References 13 publications

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“…The findings of the study confirm the prediction that a combination of maternal serum free β-hCG and PAPP-A with NT thickness at 11-14 weeks of gestation would identify about 90 % of trisomy 21 pregnancies for a 5 % false positive rate 14 , which is far superior to the average sensitivity of 65 % achievable by second trimester biochemical screening 15 . The evidence on first trimester screening for trisomy 21 by nuchal translucency and/or biochemical methods was sufficiently well developed to move out of the research phase into routine practice and that the detection rates by first trimester screening would be superior to those obtained with biochemical screening in the second trimester 16 .…”

Section: Discussionsupporting

confidence: 74%

Screening for Chromosomal Anomalies in the First Trimester: A Report on the First Year of Prospective Screening for Chromosomal Anomalies in the First Trimester in the Czech Republic

Dhaifalah¹,

Santavý²,

Zapletalová³

2006

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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Background:The increase in maternal age in recent years has intensified the effort to develop early non-invasive methods for screening for trisomy 21 and other chromosomal abnormalities in prenatal diagnosis. In the first trimester of pregnancy, maternal age, fetal nuchal translucency (NT), maternal levels of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A) are used as screening markers. We evaluated the introduction of this method of screening for the first time in the Czech Republic.Methods: it is a prospective study for one-year from the beginning of 2004. The risk of trisomy 21(Down's syndrome) was estimated for 686 singleton pregnancies. The specific risk was calculated using the Fetal Medicine Foundation software (FMF) by accredited sonographers. Karyotyping was offered to women with risk ≥ 1 in 250.Results: In the population screened 18 % of women were aged 35 and more. We found 2 cases of trisomy 21 and 1 case of trisomy 18 (Edward syndrome) resulting in a detection rate of 100 % for trisomy 21 for a 5 % false positive rate (33 of 683). The maternal age of the detected cases was 30, 38 and 42 years.Conclusion: Introduction of the first trimester screening to our clinic, reduced the number of invasive genetic testing from 18 % to 5 %. First trimester screening for trisomy 21 and other aneuploidies has a high sensitivity with a low false positive rate and can be delivered in an efficient manner in a university hospital.

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Section: Discussionsupporting

confidence: 74%

Screening for Chromosomal Anomalies in the First Trimester: A Report on the First Year of Prospective Screening for Chromosomal Anomalies in the First Trimester in the Czech Republic

Dhaifalah¹,

Santavý²,

Zapletalová³

2006

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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“…In humans, neural tube closure begins in the third week after conception, often before a woman knows that she is pregnant (Northrup and Volcik, 2000). Due to the high morbidity and mortality associated with NTDs, prenatal diagnosis and elective termination of an affected pregnancy has become the option chosen by 80% of families faced with an NTD pregnancy (Burton, 1986, Nicolaides, et al, 1986, Benacerraf, et al, 1989. Individuals with spina bifida will undergo multiple surgeries as they grow in order to treat a host of associated problems.…”

Section: Introductionmentioning

confidence: 99%

A hypothesis linking low folate intake to neural tube defects due to failure of post-translation methylations of the cytoskeleton

Björklund¹,

Gordon²

2006

Int. J. Dev. Biol.

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Neural tube defects are serious congenital malformations which can be prevented by periconceptional folic acid supplementation. We hypothesize that folic acid provides the methyl group used for post-translational methylation of arginine and histidine in the highly conserved regulatory domains of the cytoskeleton and that these are required for neural tissue differentiation. Presumptive neural tissue has an unusually high need for folates due to the activity of phosphoethanolamine methyl transferase in producing neural tissue specific lipids at a time when the cytoskeleton is also competing for methylation. According to the cell state splitter hypothesis, the cytoskeleton is required to coordinate the spatial and temporal component of differentiation. When folate supply is low and the cytoskeleton is not methylated properly, the result is a neural tube defect due to failure of this coordination.

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“…It may accompany encephalocele, Dandy-Walker malformation with encephalocele, cystic hygroma, diaphragmatic hernia, corpus callosum agenesis, fetal hydrops, umbilical vein varices and double-vein cord anomalies. When the lemon sign is present cranial findings such as ventriculomegaly, microcephaly, obliteration of the cisterna magna, compression of the cerebellar hemispheres and ventral-directed orientation (banana sign) should be investigated and the vertebral column requires careful evaluation [3,4].…”

Section: Lemon Signmentioning

confidence: 99%

Signs on Obstetric Ultrasound Images in the Second Trimester

Uysal¹

2016

Ann Clin Anal Med

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Ultrasound Screening for Spina Bifida: Cranial and Cerebellar Signs

Cited by 388 publications

References 13 publications

Screening for Chromosomal Anomalies in the First Trimester: A Report on the First Year of Prospective Screening for Chromosomal Anomalies in the First Trimester in the Czech Republic

Screening for Chromosomal Anomalies in the First Trimester: A Report on the First Year of Prospective Screening for Chromosomal Anomalies in the First Trimester in the Czech Republic

A hypothesis linking low folate intake to neural tube defects due to failure of post-translation methylations of the cytoskeleton

Signs on Obstetric Ultrasound Images in the Second Trimester

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