Banu Dane, Cem Dane, Ahmet Çetin, Murat Yayla
CaseRepClinPractRev 2007; 8:1-3
Background: Trisomy 22 is a rare chromosomal defect, occurring with an estimated incidence of one per 30,000 to 50,000 live-born neonates. However, it represents one of the most common chromosomal abnormalities found in early spontaneous abortion. Prenatal diagnosis of trisomy 22 in first trimester screening is unusual.
Case Reports: A 37-year-old woman, gravida 2, para 1, was refereed for a sonographic examination at 14 weeks of pregnancy. Nuchal thickening of 4 mm, talipes, and a membranous ventricular septal defect were noted. Amniocentesis was performed uneventfully after two weeks. Chromosome analysis showed a 47XX,+22 karyotype. The pregnancy was terminated at 19 weeks’ gestation. The following abnormalities were evident by postmortem examination: A short neck, mild skin edema, conical face shape, flat profile, hypertelorism, micrognathia, and low set ears.
Conclusions: Well-known features associated with this condition include fetal growth restriction in association with structural anomalies involving mainly the heart, face, kidneys, and gastrointestinal tract. Most of these anomalies can be readily detected prenatal by second trimester ultrasonography. As anomalies of the neck and skin were also commonly reported, nuchal translucency appears to be a reliable sonographic marker for this aneuploidy.
Keywords: Trisomy 22, nuchal thickening, Prenatal Diagnosis, facial anomaly