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Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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Synthesis and Regulation of Thyroid Hormones

Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The iodine is then...
Functions of Thyroid Hormones01:18

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The thyroid hormone (TH) plays a pivotal role in the intricate orchestration of physiological processes, exerting profound effects on development, metabolism, and homeostasis throughout different life stages.
TH is indispensable for the normal development and maturation of the skeletal, muscular, and nervous systems during fetal and childhood growth. It facilitates bone mineral turnover and regulates protein synthesis in developing tissues, contributing significantly to overall growth and...
Hyperthyroidism I: Introduction01:25

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Hyperthyroidism is a type of thyrotoxicosis characterized by the thyroid gland's overproduction of the thyroid hormones triiodothyronine (T3) and thyroxine (T4). This hormone excess increases the basal metabolic rate and enhances sensitivity to catecholamines.DiagnosisDiagnosis is based on clinical features and biochemical testing. It typically shows suppressed thyroid-stimulating hormone (TSH) levels below 0.4 mIU/L, with elevated free T3 and/or T4. Additional tests, including thyroid...
Graves' Disease I: Introduction01:28

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Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence in...
Graves Disease II: Pathophysiology01:24

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Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor, and heat...

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Related Experiment Video

Updated: Jul 7, 2026

Synchronous Triplanar Reconstruction Integrated with Color Doppler Mapping for Precise and Rapid Localization of Thyroid Lesions
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Incorporating thyroid markers in Down syndrome screening protocols.

Ishraq Dhaifalah1,2, Tomas Salek3, Dagmar Langova4

  • 1Department of Obstetrics and Gynecology, Tomas Bata Regional Hospital, Zlin, Czech Republic.

Prenatal Diagnosis
|April 5, 2017
PubMed
Summary

Incorporating maternal thyroid markers (thyroid-stimulating hormone and free thyroxine) into Down syndrome screening modestly improves accuracy. This enhances first-trimester screening by reducing false positives and unnecessary cell-free DNA tests.

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Area of Science:

  • Maternal-fetal medicine
  • Biochemistry
  • Genetics

Background:

  • First-trimester Down syndrome screening is crucial for early diagnosis.
  • Maternal thyroid dysfunction can affect pregnancy outcomes.
  • Integrating thyroid markers into screening may enhance accuracy.

Purpose of the Study:

  • To evaluate the impact of including maternal serum thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels in first-trimester Down syndrome screening.
  • To assess the effect on the performance of combined screening and contingent cell-free DNA (cfDNA) protocols.

Main Methods:

  • Statistical modeling was employed to compare screening performance with and without thyroid markers.
  • Evaluated two protocols: the combined test and the contingent cfDNA test.
  • Utilized published data and data from 5230 women screened for both conditions.

Main Results:

  • For the combined test, adding thyroid markers reduced the false positive rate from 5.3% to 3.6% at an 85% detection rate.
  • For the contingent cfDNA test, thyroid markers decreased the proportion of women needing cfDNA testing from 25.6% to 20.2% at a 95% detection rate.

Conclusions:

  • Maternal thyroid marker levels should be incorporated into Down syndrome risk calculations when screening for both conditions simultaneously.
  • The inclusion offers a modest but cost-effective improvement in screening performance.
  • This integration enhances the efficiency of Down syndrome and maternal thyroid disease screening.