Neural tube defects in the sample of genetic counselling

@article{Jo2007NeuralTD,
  title={Neural tube defects in the sample of genetic counselling},
  author={J{\'o}zsef G{\'a}bor Jo{\'o} and Artur Beke and Csaba Papp and Ernő T{\'o}th-P{\'a}l and {\'A}kos Csaba and Zsanett Szigeti and Zolt{\'a}n Papp},
  journal={Prenatal Diagnosis},
  year={2007},
  volume={27}
}
Objective This study was conducted to evaluate the major demographic details, diagnostical and clinical features, as well as the risk of recurrence of cases with the major types of neural tube defects (NTD). We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years. 

Abnormal skull findings in neural tube defects.

The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception, when the normal closure process fails.

Gender and Associated Skeletal Abnormalities in Fetuses with Neural Tube Defects

The proven associations between gender and skeletal defects in fetuses with NTDs are important indicators in the purposeful search for N TDs in early prenatal ultrasound diagnosis.

IMPLICATION OF GENETIC FACTORS IN NEURAL TUBE DEFECTS ETIOLOGY

This study established an association between the occurence of neural tube defects with spontaneous abortions, as well as with other congenital defects, that may be considered markers of early prenatal damage.

Molecular Genetics and Fetal Brain

The recent investigations of fetal brain development based on prenatal brain imaging by ultrasound (US) or magnetic resonance imaging (MRI) have suggested that anatomical defects are manifested as

When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina

Cases in which FA failed in prevention of N TDs provide potential areas for further study into the causation of NTDs, and the measures and techniques implemented in South Carolina can serve as an effective and successful model for prevention ofNTD occurrence and recurrence.

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

The data provide several lines of evidence consistent with a maternal effect, as well as a sex-influenced effect, in the etiology of NTDs.

A case-control study of the effects of pregnancy planning on neural tube defects and its primary preventive measures.

Folic acid consumption prior to conception, preconception examinations, and health education have preventive effects on NTDs and there are synergistic interactions between pregnancy planning and these measures.

The effects of preconception examinations on neural tube defects and the primary preventive measures: case–control study

  • R. GongZhi-Ping WangMeng WangLi-jie GaoQ. LuZhong-tang Zhao
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2016
Preconception examinations have preventive effects on NTDs and can significantly improve the compliance of other N TDs primary preventive measures, and these measures have synergetic prevention effects, indicating the critical role played by preconception examinations on Ntds prevention.

Prenatal diagnosis of craniorachischisis totalis

A case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation, and the parents opted for pregnancy termination and the diagnosis was confirmed postnatally.

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