Related Experiment Video

Updated: Sep 27, 2026

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes
03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

Neural tube defects in the offspring of thalassemia carriers

Rosa Maria Ibba1, Maria Angelica Zoppi, Marcella Floris

  • 1Department of Obstetrics and Gynecology, Prenatal and Preimplantation Diagnosis and Fetal Therapy, Regional Hospital for Microcythemia, Cagliari, Italy.

Fetal Diagnosis and Therapy
|February 5, 2003
PubMed

Insights

Thalassemia carriers, who may have lower folate levels, showed a higher prevalence in pregnancies with neural tube defects (NTDs). This suggests a potential link, underscoring the importance of folate supplementation for pregnant women with thalassemia.

Area of Science:

  • Obstetrics and Gynecology
  • Genetics
  • Public Health

Background:

  • Maternal folate levels are crucial for preventing neural tube defects (NTDs).
  • Thalassemia carriers can exhibit lower red blood cell folate concentrations.
  • A potential association between thalassemia trait and NTD risk warrants investigation.

Purpose of the Study:

  • To determine if thalassemia carriers have an elevated risk of offspring with neural tube defects.
  • To investigate the prevalence of thalassemia carriers among women with prenatal diagnoses of NTDs.

Main Methods:

  • Retrospective analysis of 75 women with prenatal NTD diagnoses.
  • Evaluation of the prevalence of thalassemia carriers within this cohort.

Main Results:

  • A significantly higher prevalence of beta-thalassemia carriers was observed (22.5%) compared to the general population (14%).
  • The difference in carrier prevalence was statistically significant (p < 0.05).

Conclusions:

  • The findings suggest a possible increased risk of NTDs in offspring of thalassemia carriers.
  • Folate supplementation is strongly recommended for women with thalassemia planning pregnancy.
Abstract

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Related Concept Videos

Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Sex-linked Disorders02:28

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
Translation01:37

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.Translation Produces the Building Blocks of LifeProteins are called the...
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...