How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?
| Autor: | Anna Matyszkiewicz, Ewa Wiercinska, Emilia Latała, Marcin Wiecheć, Anna Knafel, Agnieszka Nocun |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
Heart Defects Congenital 0301 basic medicine medicine.medical_specialty Adolescent Aneuploidy Gestational Age Trisomy 030105 genetics & heredity Ultrasonography Prenatal Young Adult 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Nuchal Translucency Measurement medicine Humans Abnormalities Multiple Prospective Studies 030219 obstetrics & reproductive medicine Omphalocele Maternal Serum Screening Tests Single umbilical artery Obstetrics business.industry Obstetrics and Gynecology Gestational age Middle Aged medicine.disease Echocardiography Doppler Color Pregnancy Trimester First Logistic Models Pediatrics Perinatology and Child Health Female Chromosomes Human Pair 18 business Trisomy 18 Syndrome Maternal Age |
| Zdroj: | Journal of Perinatal Medicine. 44 |
| ISSN: | 1619-3997 0300-5577 |
| DOI: | 10.1515/jpm-2014-0384 |
| Popis: | Trisomy 18 (T18) remains the second most common aneuploidy. It is associated with multiple congenital anomalies and causes intrauterine fetal demise in the most severe cases.To examine the screening performance of ultrasound-based protocols for detecting T18, we aimed to determine the most common signs and their prevalence in fetuses with T18 to develop logistic regression model.This was a prospective study based on singleton pregnancies examined at gestation 11+0 to 13+6. The referrals constituted 6210 patients. Scan protocol enclosed a systematic review of the entire early fetal anatomy, including fetal cardiac evaluation and sonographic signs of aneuploidy.Our study population comprised 5650 pregnancies: 5613 cases with a normal karyotype and 37 cases with T18. The mean nuchal translucency (NT) thickness in the subgroup of euploidy was 1.7 and in the subgroup of T18 it was 5.4. No statistically significant differences were found in terms of maternal age. One case of T18 (2.7%) demonstrated no markers of aneuploidy as opposed to 5111 cases of euploidy (91.1%). Extracardiac malformations were identified in 13 cases of T18 (35.1%) and in 48 cases of euploidy (0.8%). Congenital heart defects were observed in 26 cases of T18 (70.3%) and in 27 cases of euploidy (0.5%).Our results showed good screening performance of ultrasound-based risk calculation models. When the first trimester pattern of T18 is considered, an increased NT, tricuspid regurgitation, single umbilical artery, omphalocele and right dominant heart should be specifically searched for. |
| Databáze: | OpenAIRE |
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