Nuchal translucency measurement in the era of prenatal screening for aneuploidy using cell free (cf)DNA

Prenatal Diagnosis

Volumn 37, Issue 3, 2017, Pages 303-305

  O'Brien, Barbara M ^a,b   Halliday, Jacquelyn ^a   Lambert Messerlian, Geralyn ^a   Eklund, Elizabeth E ^a   Kloza, Edward ^a   Palomaki, Glenn E ^a  

^a BROWN UNIVERSITY   (United States)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA; CELL FREE NUCLEIC ACID;

ANEUPLOIDY; ARTICLE; CELL FREE SYSTEM; CYSTIC LYMPHANGIOMA; DNA SCREENING; HUMAN; KARYOTYPING; MONOSOMY X; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TRISOMY 18; TRISOMY 21; ADULT; ATTITUDE TO HEALTH; BLOOD; DECISION MAKING; FEMALE; GENETIC SCREENING; HONG KONG; INFORMED CONSENT; PREGNANCY; PROCEDURES; QUESTIONNAIRE; STATISTICS AND NUMERICAL DATA;

ADULT; ANEUPLOIDY; CELL-FREE NUCLEIC ACIDS; CHOICE BEHAVIOR; FEMALE; GENETIC TESTING; HEALTH KNOWLEDGE, ATTITUDES, PRACTICE; HONG KONG; HUMANS; INFORMED CONSENT; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PRENATAL DIAGNOSIS; SURVEYS AND QUESTIONNAIRES;

EID: 85013472267     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.5010     Document Type: Article

References (10)

1. Sheppard C, Platt LD. Nuchal translucency and first trimester risk assessment: a systematic review. Ultrasound Q 2007;23(2):107–16.
2. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45(3):249–66.
3. Palomaki GE, Kloza EM, O'Brien BM, et al. Routine DNA-based screening for fetal aneuploidy in pregnant women. Genetics in Medicine, doi: 10.1038/gim.2016.194, 2017.
4. Snijders RJM, Noble P, Sebire N, et al. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestational age. Lancet 1998Aug;352(91):343–6.
5. Reiff ES, Little SE, Dobson L, et al. What is the role of the 11- to 14-week ultrasound in women with negative cell-free DNA screening for aneuploidy? Prenat Diagn 2016;36(3):260–5.
6. Rao RR, Valderramos SG, Silverman NS, et al. The value of the first trimester ultrasound in the era of cell free DNA screening. Prenat Diagn 2016;36:1192–8.
7. Lichtenbelt KD, Diemel BDM, Koster MPH, et al. Detection of fetal chromosomal anomalies: does nuchal translucency measurement have added value in the era of non-invasive prenatal testing? Prenat Diagn 2015;35:663–8.
8. Vora NL, Robinson S, Hardisty EE, Stamilio DM. The utility of a prerequisite ultrasound at 10–14 weeks in cell free DNA fetal aneuploidy screening. Ultrasound Obstet Gynecol DOI.10.1002/uog15995, 2016.
9. Le Lous M, Bouhanna P, Colmant C, et al. The performance of an intermediate 16th-week ultrasound scan for the follow-up of euploid fetuses with increased nuchal translucency. Prenat Diagn 2016Feb;36(2):148–53.
10. Yang X, Li R, Fu F, et al. Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype. J Matern Fetal Neonatal Med 2016Apr;19:1–5.