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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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Related Experiment Video

Updated: May 28, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
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Published on: May 5, 2018

[Birth defects associated with increased nuchal translucency].

Elvia Cristina Mendoza-Caamal1, Patricia Grether-González, Mariana Hernández-Gómez

  • 1Instituto Nacional de Perinatología Isidro Espinosa de los Reyes, México, DF.

Ginecologia Y Obstetricia De Mexico
|October 5, 2011
PubMed
Summary

Increased fetal nuchal translucency (NT) is linked to chromosomal issues and birth defects. Even with a normal karyotype, continued monitoring is advised due to potential congenital anomalies and genetic syndromes.

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Area of Science:

  • Prenatal Diagnosis
  • Fetal Medicine
  • Genetics

Background:

  • Nuchal translucency (NT) screening in early pregnancy is standard for trisomy 21 detection.
  • Increased NT is also a marker for other chromosomal abnormalities, genetic syndromes, and congenital defects.

Purpose of the Study:

  • To assess perinatal outcomes in fetuses with NT at or above the 95th percentile, who underwent fetal karyotyping.
  • To correlate NT measurements with chromosomal status and congenital anomalies.

Main Methods:

  • A case series evaluated 48 fetuses with NT ≥ 95th percentile.
  • Methods included fetal karyotyping, second-trimester ultrasound, fetal echocardiography, and postnatal genetic evaluation.

Main Results:

  • Of 48 fetuses, 19% had abnormal karyotypes (including trisomy 21, monosomy X, trisomy 18, XYY).
  • In the normal karyotype group, 33% showed abnormal second-trimester scans, with 12 major congenital defects, including 5 cardiac anomalies.
  • 2 fetuses with normal karyotype and ultrasound had minor birth defects.

Conclusions:

  • Elevated fetal NT is associated with chromosomal abnormalities and congenital defects, particularly heart defects and genetic syndromes.
  • Complete follow-up is recommended for all fetuses with increased NT, even with normal karyotypes, due to risks of other anomalies.