Neural tube defects in the sample of genetic counselling

  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},
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.


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.



Regional variations in neural tube defects and alfa‐fetoprotein screening in Denmark 1983‐88

  • P. Jacobsen
  • Medicine
    Acta obstetricia et gynecologica Scandinavica
  • 1996
This study tests the hypothesis that regional rates in the Danish low risk population reflects screening activities, and concludes that maternal serum alpha‐fetoprotein screening activities contribute to prevalence rates for neural tube defects.

The etiology of neural tube defects: the role of folic acid

DiscussionWhile the cause of neural tube defects in humans is considered to be multifactorial, it is apparent that folic acid can prevent 70% of open neural tube defects. Even in laboratory animals

Impact of prenatal mid‐trimester screening on the prevalence of fetal structural anomalies: a prospective epidemiological study

  • Z. PappE. Tóh‐Pál O. Torok
  • Medicine
    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 1995
The objective of this study was to evuluate the effectiveness of the measurement of maternal serum α‐fetoprotein (MSAFP) at 16 weeks and a subsequent routine ultrasound screening at 18–20 weeks'

Neural Tube Defects: Issues in Prenatal Diagnosis and Counselling

Understanding of the etiology, neonatal treatment, and potential prevention of neural tube defects is increasing, and the ethical issues of treatment and screening are being widely discussed in both news magazines and the Congressional Record.

Epidemiology of Neural Tube Defects

Recurrence risk is markedly higher than the risk for a first NTD‐affected pregnancy in the general population, and there is strong evidence, overall, for a protective effect of adequate folate consumption, but in some high‐risk groups, such as women taking AEDs, folate supplementation has not been proven to reduce NTD risk.

Neural-tube defects.

The results of randomized trials indicate that at least half the cases of neural-tube defects could be prevented if women consumed sufficient amounts of the B vitamin folic acid before conception and during early pregnancy.

Prevalence of neural tube defects in Cape Town, South Africa.

The aim of the study was to document the frequency of neural tube defects (NTD) over a 20-year period in Cape Town and to determine the effects of race, gender, maternal age, parity and season of

Correlation of prenatal clinical findings with those observed in fetal autopsies: pathological approach

Compared with the comparison of the pathological and clinical findings in 121 therapeutic abortions, the percentage of cases with correct clinical designation and no missed anomalies amounted for 49%.

Etiologic heterogeneity of neural tube defects. II. Clues from family studies.

It is suggested that NTDs are eti heterogeneous, depending on the presence of associated defects, and point to important environmental influences in the increased risk for birth defects among siblings of singles.

Etiologic heterogeneity of neural-tube defects.

Twelve per cent of stillborn and live-born infants with anencephaly had nongenetic disorders, a chromosome abnormality, or an encephalocele as part of the autosomal recessive Meckel syndrome; therefore, for this 12 per cent genetic counseling normally provided for isolated anencesphaly, meningomyelocele or encePHalocele would have been incorrect.