Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities

Ultrasound in Obstetrics and Gynecology

Volumn 50, Issue 1, 2017, Pages 45-48

  Syngelaki, A ^a   Guerra, L ^a   Ceccacci, I ^a   Efeturk, T ^a   Nicolaides, K H ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

chromosomal abnormalities; exomphalos; first trimester screening; holoprosencephaly; megacystis; nuchal translucency

Indexed keywords

ADULT; CHROMOSOME DISORDER; CLINICAL TRIAL; CONGENITAL DISORDER; DIAGNOSTIC IMAGING; EMBRYOLOGY; ENGLAND; FEMALE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; HOLOPROSENCEPHALY; HUMAN; MULTICENTER STUDY; NUCHAL TRANSLUCENCY MEASUREMENT; PREDICTIVE VALUE; PREGNANCY; PREVALENCE; PROSPECTIVE STUDY; RISK FACTOR; UMBILICAL HERNIA;

ADULT; CHROMOSOME DISORDERS; CONGENITAL ABNORMALITIES; ENGLAND; FEMALE; HERNIA, UMBILICAL; HOLOPROSENCEPHALY; HUMANS; NUCHAL TRANSLUCENCY MEASUREMENT; PREDICTIVE VALUE OF TESTS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREVALENCE; PROSPECTIVE STUDIES; RISK FACTORS; ULTRASONOGRAPHY, PRENATAL;

EID: 85018874500     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.17286     Document Type: Article

References (9)

1. Santorum M, Wright D, Syngelaki A, Karagioti N, Nicolaides KH. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol 2017. DOI:https://doi.org/10.1002/uog.17283.
2. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249–266.
3. UK National Screening Committee. The UK NSC recommendation on Down's syndrome screening in pregnancy: last external review – cfDNA screening in pregnancy. https://legacyscreening.phe.org.uk/downs [Accessed 26 March 2017].
4. Syngelaki A, Chelemen T, Dagklis T, Allan L, Nicolaides KH. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenat Diagn 2011; 31: 90–102.
5. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23: 1968–1975.
6. Sepulveda W, Dezerega V, Be C. First-trimester sonographic diagnosis of holoprosencephaly: value of the ‘butterfly’ sign. J Ultrasound Med 2004; 23: 761–765.
7. Liao AW, Sebire NJ, Geerts L, Cicero S, Nicolaides KH. Megacystis at 10–14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet Gynecol 2003; 21: 338–341.
8. Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther 2014; 35: 174–184.
9. Kagan KO, Staboulidou I, Syngelaki A, Cruz J, Nicolaides KH. The 11–13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis. Ultrasound Obstet Gynecol 2010; 36: 10–14.