Intracardiac echogenic focus and trisomy 21 in a population previously evaluated by first-trimester combined screening.
OBJECTIVE
To determine the relation between intracardiac echogenic focus (ICEF) and trisomy 21 in a population of fetuses previously evaluated by first-trimester combined screening.


METHODS
Prospective study to evaluate the prevalence of trisomy 21 for four groups of pregnancies: those with isolated ICEF, those with ICEF and positive first-trimester combined screening, those with ICEF and other ultrasound markers, and those with ICEF, positive first-trimester combined screening and other ultrasound markers.


METHODS
Teaching hospital.


METHODS
A total of 7,118 fetuses received first-trimester combined screening and a second-trimester fetal anatomical scan.


METHODS
Amniocentesis for karyotyping was offered for those with positive result of first-trimester combined screening, and for those with the diagnosis of ICEF or other fetal chromosomal aneuploidy ultrasound markers in mid-trimester detailed fetal anatomical scans.


METHODS
The prevalence of trisomy 21 in each group.


RESULTS
For the entire study population, 25 trisomy 21 cases were diagnosed prenatally (prevalence, 0.35%). Among fetuses with positive first-trimester combined screening results, the likelihood ratio of trisomy 21 was significantly increased for those with, as compared to without, ICEF (3.5 vs. 0.80, p = 0.012). However, among fetuses with negative first-trimester combined screening results, the likelihood ratios of trisomy 21 did not differ significantly between those with and without ICEF.


CONCLUSIONS
In pregnancies complicated by isolated ICEF but lacking additional anomalies on ultrasonographic examination and exhibiting negative first-trimester combined screening results, fetal karyotyping is not indicated.
Huang
Shang-Yu
SY
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan, ROC.
Shaw
Sheng-Wen
SW
Cheuh
Ho-Yen
HY
Cheng
Po-Jen
PJ
D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000000981:diagnostic imaging; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D005318:Fetal Heart / Q000000981:diagnostic imaging*; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000196:embryology; D006801:Humans; D016013:Likelihood Functions; D008875:Middle Aged; D010210:Papillary Muscles / Q000000981:diagnostic imaging; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D015995:Prevalence; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal