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Titolo:
Early screening for chromosomal abnormalities: new strategies combining biochemical, sonographic and Doppler parameters
Autore:
Comas, C; Antolin, E; Torrents, M; Munoz, A; Figueras, F; Echevarria, M; Gomez, O; Carrera, JM;
Indirizzi:
Inst Univ Dexeus, Dept Obstet & Gynecol, Fetal Med Unit, Barcelona 08017, Spain Inst Univ Dexeus Barcelona Spain 08017 Med Unit, Barcelona 08017, Spain
Titolo Testata:
PRENATAL AND NEONATAL MEDICINE
fascicolo: 2, volume: 6, anno: 2001,
pagine: 95 - 102
SICI:
1359-8635(200104)6:2<95:ESFCAN>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
NUCHAL TRANSLUCENCY THICKNESS; VENOSUS BLOOD-FLOW; FETAL HEART-RATE; FIRST-TRIMESTER; 1ST TRIMESTER; PREGNANCY; GESTATION; FETUSES; DEFECTS; TRISOMY-21;
Keywords:
chromosomal abnormalities; ultrasound screening; Doppler;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Comas, C Inst Univ Dexeus, Dept Obstet & Gynecol, Fetal Med Unit, Paseo Bonanova 67, Barcelona 08017, Spain Inst Univ Dexeus Paseo Bonanova 67 Barcelona Spain 08017 , Spain
Citazione:
C. Comas et al., "Early screening for chromosomal abnormalities: new strategies combining biochemical, sonographic and Doppler parameters", PRENAT N M, 6(2), 2001, pp. 95-102

Abstract

Objective The aim of this study was to evaluate the role of prenatal markers (biochemical, ultrasonographic and Doppler parameters) in screening for chromosomal abnormalities at 10-16 weeks' gestation. We evaluated the effectiveness of combined parameters in order to suggest the optimal strategy inlow- and high-risk populations. Methods Biochemical serum assessment (risk assessed by maternal age and biochemical markers-pregnancy-associated plasma protein A (PAPP-A) and total beta -human chorionic gonadotropin (beta -hCG) between 10 and 12 weeks, cc-fetoprotein (AFP) and total beta -hCG between 13 and 16 weeks), nuchal translucency (NT) measurement, fetal heart rate (FHR), umbilical artery pulsatility index (PI) and ductus venosus PI for veins were prospectively evaluated. A total of 7718 pregnant women between 10 and 16 weeks' gestation were included. We used the 95th centile as a cut-off level for NT, umbilical artery PI and ductus venosus PI for veins, the 2.5 and 97.5th centiles as cut-off levels for FHR, and estimated risk for Down's syndrome of > 1/270 as a cut-off level for biochemical assessment combined with maternal age. ResultsChromosomal abnormalities were found in 76 cases (35 cases of trisomy 21). Seventy-six per cent of the population was younger than 35 years. The overall detection rate, specificity, positive predictive value (PPV), negative predictive value (NPV) and odds ratio (OR) for aneuploidy were 75%, 95.6%, 14.5%, 99.7% and 65, respectively, when using NT measurement as a single criterion. Using the ductus venosus PI for veins, the overall detection rate,specificity, PPV, NPV and OR for aneuploidy were 81.5%, 95.6%, 15.3%, 99.8% and 95, respectively. We evaluated the effectiveness of two combined strategies for chromosomal abnormality detection: selective screening (NT and ductus venosus PI for veins) and overall screening tall markers). Using NT and the ductus venosus PI for veins, the detection rate was 47.5% for ail chromosomal abnormalities, increasing to 68.2% for autosomal trisomies, with a specificity of 99.8%. Using all sonographic and Doppler markers simultaneously, the detection rate was 100% with a 29.7% false-positive rate. Conclusions We conclude that early screening programs for chromosomal abnormalities (10-16 weeks) are at least as effective as later strategies (16-20 weeks). In our study, NT was the most sensitive and specific marker for autosomal trisomies, while the ductus venosus PI for veins was the most sensitive and specific marker for chromosomal abnormalities as a whole. However, the umbilical artery PI and FHR were not effective single markers for chromosomal abnormalities. They may have a role in combined strategies, as markers of lethal autosomal trisomies. Finally, biochemical serum strategies should be reconsidered when an unselected population is screened early.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 11:30:30