Detection of triploidy at 11-14 weeks' gestation: a cohort study of 198 000 pregnant women.
Ultrasound Obstet Gynecol
; 42(5): 530-5, 2013 Nov.
Article
in En
| MEDLINE
| ID: mdl-23494847
ABSTRACT
OBJECTIVES:
To assess the detection rate of triploidy at first-trimester screening for trisomy 21 and evaluate outcome in triploid pregnancies.METHODS:
From 2008 to 2011, 198 427 women with singleton pregnancies underwent first-trimester screening between 11 + 2 and 14 + 0 weeks' gestation. Screening parameters included nuchal translucency, maternal serum free ß-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A). In all triploid fetuses, these parameters were re-evaluated. Karyotypes were established by invasive testing (chorionic villus sampling or amniocentesis) or postabortem and obtained from the Danish Cytogenetic Central Register and the Danish Fetal Medicine Database.RESULTS:
A total of 30 triploid fetuses underwent first-trimester screening. Twenty-five were diagnosed as a result of abnormal first-trimester scan findings, a detection rate of 83.3%. Twenty-three fetuses were identified due to a high risk for trisomy 13, 18 or 21 and two fetuses due to structural abnormalities. The incidence of triploidy at first-trimester screening was 16614. A smaller crown-rump length than that estimated by date of last menstrual period was found in 95% of the fetuses with data available for evaluation. Eight fetuses had a larger biparietal diameter than expected for gestational age. Fetuses with a 69,XXX karyotype had significantly lower multiples of the median values for ß-hCG and PAPP-A than did 69,XXY fetuses (P = 0.045 and P = 0.02 forß-hCG and PAPP-A, respectively). No infants with triploidy were born in the study period. Among the triploid gestations detected on first-trimester screening, 20 (80.0%) women chose termination of pregnancy, four (16.0%) had spontaneous miscarriage and one (4.0%) was stillborn.CONCLUSION:
First-trimester screening for trisomy 21 also provides a high detection rate for triploidy.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Down Syndrome
/
Triploidy
/
Fetal Diseases
Type of study:
Clinical_trials
/
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Europa
Language:
En
Journal:
Ultrasound Obstet Gynecol
Year:
2013
Document type:
Article