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J Ultrasound Med. 2005 Nov;24(11):1547-53.

Prenatal sonographic findings in trisomy 22: five case reports and review of the literature.

Author information

1
Institute of Prenatal Medicine and Genetics, Graf-Adolf-Strasse 35, 40210 Düsseldorf, Germany. institut@praenatal.de

Abstract

OBJECTIVE:

The purpose of this study was to survey prenatal sonographic findings and their frequencies in fetuses with complete trisomy 22 and to identify potential sonographic markers of this aneuploidy.

METHODS:

Sonographic examinations of 5 fetuses were performed and chromosome analysis was conducted after amniocentesis, chorionic villus sampling, cordocentesis, or a combination thereof. The sonographic findings were compared with other prenatal cases in the literature.

RESULTS:

Intrauterine growth restriction, hypoplastic femurs, nuchal thickening, cerebellar defects, and oligohydramnios were the most frequently observed anomalies in all considered cases of late first-, second-, and third-trimester scans.

CONCLUSIONS:

These anomalies represent commonly accepted sonographic markers for chromosomal defects in general, some recognizable from the time of first-trimester screening (12th-14th weeks of gestation) and stress their importance for prenatal sonographic scans.

PMID:
16239659
[Indexed for MEDLINE]

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