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270857

Neural Tube Defects: Sex Ratios and Recurrence Risk

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Last updated: 22 Jan 2023

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Abstract

Neural tube defects [NTD] are a heterogeneous group of defects. NTD may result from failure of neurulation or canalization depending on the level of the lesion and accounting for the difference observed in sex incidence of upper and lower lesions. This study included 50 families having 64 patients with neural tube defects. Among them 14 families had 2 affected members [28/64; 44%] and 36 families had only one affected member [36/64; 56%]. The common types of NTD, as well as the relation between the position of the NTD lesions and sex were studied. Also, the sex ratio and the concordance for NTD lesion and sex were estimated. The recurrence rate in sibs of the probands was also calculated. Anencephaly was found in 60.9% of cases, followed by encephalocele in 18.8%, then meningeomyelocele in 12.5% and finally the spina bifida in 7.8%. The overall male/female ratio was 1.06. A male preponderance was observed in the anencephalic patients, while a female excess was found in the encephalocelic group. In lower spina bifida all cases were males. Concordance of sex was found in 75% of the upper lesions and in 100% of the lower lesions. The recurrence rate was found to be high in the upper lesions [4.5%], while it was 0.5% in the lower lesions group.. Periconceptional vitamins and folic acid as well as proper prenatal diagnosis by both anatomical and biochemical evaluation of the fetus will reduce the recurrence of the NTD.

DOI

10.21608/jhiph.2000.270857

Keywords

neural tube defects, sex ratios, Recurrence risk

Authors

First Name

Nargeus

Last Name

Hasanein

MiddleName

M.

Affiliation

Human Genetics Department, Medical Research Institute, University of Alexandria, Egypt

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Orcid

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First Name

Amal

Last Name

Abd El Aziz

MiddleName

M.

Affiliation

Human Genetics Department, Medical Research Institute, University of Alexandria, Egypt

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Volume

30

Article Issue

3

Related Issue

35862

Issue Date

2000-07-01

Receive Date

2022-11-22

Publish Date

2000-07-01

Page Start

523

Page End

532

Print ISSN

2357-0601

Online ISSN

2357-061X

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https://jhiphalexu.journals.ekb.eg/article_270857.html

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https://jhiphalexu.journals.ekb.eg/service?article_code=270857

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10

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Original Article

Type Code

511

Publication Type

Journal

Publication Title

Journal of High Institute of Public Health

Publication Link

https://jhiphalexu.journals.ekb.eg/

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Article

Created At

22 Jan 2023