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Related Concept Videos

Karyotyping01:17

Karyotyping

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Karyotyping01:17

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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...
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Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Nondisjunction01:21

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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

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Related Experiment Video

Updated: May 30, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
12:32

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Increased nuchal translucency, normal karyotype and infant development.

C B Miltoft1, C K Ekelund, B M Hansen

  • 1Department of Fetal Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. caroline winther@hotmail.com

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|August 13, 2011
PubMed
Summary

First-trimester nuchal translucency (NT) screening identifies fetuses with normal development. Chromosomally normal fetuses with increased NT (≥ 99th percentile) show no higher risk of developmental delay at age 2.

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Area of Science:

  • Prenatal diagnostics
  • Fetal development
  • Pediatric neurology

Background:

  • Nuchal translucency (NT) measurement is a key first-trimester screening tool.
  • Increased NT can be associated with chromosomal abnormalities and adverse outcomes.
  • The developmental trajectory of chromosomally normal fetuses with increased NT requires further investigation.

Purpose of the Study:

  • To determine if fetuses with a nuchal translucency (NT) measurement ≥ 99th percentile (3.5 mm) and normal karyotype face an elevated risk of delayed development at 2 years of age.
  • To compare developmental outcomes between fetuses with increased NT and those with normal NT.

Main Methods:

  • A cohort study involving 202 fetuses with NT ≥ 3.5 mm (Group 1) and matched controls with NT <95th percentile (Group 2) from 10 Danish hospitals.
  • Infant development assessed at 2 years using the Ages and Stages Questionnaire (ASQ).
  • Groups were matched for gender, gestational age at birth, and maternal age.

Main Results:

  • Of 33,266 fetuses, 0.6% had NT ≥ 3.5 mm; 49% of these had normal karyotype and ultrasound findings.
  • Developmental delay (low ASQ score) was observed in 1.3% of Group 1 and 4.4% of Group 2 (P = 0.265).
  • No significant difference in mean ASQ scores was found between the two groups (P = 0.160).

Conclusions:

  • Chromosomally normal fetuses with increased first-trimester NT (≥ 99th percentile) and normal pregnancy ultrasound findings do not exhibit an increased risk of developmental delay at 2 years.
  • First-trimester NT screening, when combined with normal karyotype and ultrasound, can provide reassurance regarding neurodevelopmental outcomes.
  • These findings support the use of NT screening in conjunction with genetic and ultrasound assessments for comprehensive fetal evaluation.