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The second-trimester fetus with Down syndrome: detection using sonographic features

B R Benacerraf¹

¹Department of Obstetrics and Gynecology, Harvard Medical School, Boston, Massachusetts, USA.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology

|February 1, 1996

Summary

Screening for Down syndrome (trisomy 21) using maternal age and serum markers is limited. Characteristic sonographic findings in the second trimester offer improved detection of fetuses with Down syndrome.

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Area of Science:

Medical Genetics
Prenatal Diagnosis
Fetal Ultrasound

Background:

Down syndrome (trisomy 21) is a common chromosomal abnormality.
Current screening methods like maternal age and serum alpha-fetoprotein have limitations in detection rates.
Karyotyping is invasive and only identifies a small percentage of affected fetuses.

Purpose of the Study:

To review characteristic sonographic findings associated with an increased risk of Down syndrome (trisomy 21).
To highlight the potential of ultrasound in improving prenatal detection of Down syndrome.

Main Methods:

Review of existing literature on sonographic markers for Down syndrome.
Identification of characteristic anatomical features observed via ultrasound in fetuses with trisomy 21.

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Main Results:

Maternal age and serum alpha-fetoprotein screening detect only about 40% of Down syndrome cases.
Sonographic imaging of the second-trimester fetus is expected to optimize detection of anatomical features.
This review summarizes key sonographic findings indicative of increased Down syndrome risk.

Conclusions:

Sonographic evaluation is crucial for identifying fetuses at increased risk for Down syndrome.
Characteristic ultrasound findings can supplement existing screening methods.
Further research into sonographic markers can enhance prenatal diagnosis of trisomy 21.