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Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.

Kypros H. Nicolaides, +4 more
- 04 Apr 1992 - 
- Vol. 304, Iss: 6831, pp 867-869
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TLDR
Fetal nuchal translucency > or = 3 mm is a useful first trimester marker for fetal chromosomal abnormalities.
Abstract: 
OBJECTIVE--To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype. DESIGN--Prospective screening study. SETTING--The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London. SUBJECTS--827 fetuses undergoing first trimester karyotyping by amniocentesis or chorionic villus sampling. MAIN OUTCOME MEASURE--Incidence of chromosomal defects. RESULTS--The incidence of chromosomal defects was 3% (28 of 827 cases). In the 51 (6%) fetuses with nuchal translucency 3-8 mm thick the incidence of chromosomal defects was 35% (18 cases). In contrast, only 10 of the remaining 776 (1%) fetuses were chromosomally abnormal. CONCLUSION--Fetal nuchal translucency > or = 3 mm is a useful first trimester marker for fetal chromosomal abnormalities.

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Citations
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Journal ArticleDOI

UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation

R. J. M. Snijders, +4 more
- 01 Aug 1998 - 
TL;DR: Assessment of risk by a combination of maternal age and fetal nuchal-translucency thickness, measured by ultrasonography at 10-14 weeks of gestation, finds that selection of the high-risk group for invasive testing by this method allows the detection of about 80% of affected pregnancies.
Journal ArticleDOI

First-trimester or second-trimester screening, or both, for down's syndrome

Fergal D. Malone, +22 more
- 10 Nov 2005 - 
TL;DR: First-trimester combined screening at 11 weeks of gestation is better than secondtrimester quadruple screening but at 13 weeks has results similar to second-tr pregnancy quadruple screened, except for the comparison between serum integrated screening and combined screening.
Journal ArticleDOI

Diagnosis and Treatment of Fetal Cardiac Disease A Scientific Statement From the American Heart Association

Mary T. Donofrio, +18 more
- 27 May 2014 - 
TL;DR: This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.
Journal ArticleDOI

Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities.

Kypros H. Nicolaides
- 01 Jul 2004 - 
TL;DR: There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy, and care givers who perform first-trimester screening should be trained appropriately, and their results should be subjected to external quality assurance.
Journal ArticleDOI

Screening for fetal aneuploidies at 11 to 13 weeks

Kypros H. Nicolaides
- 01 Jan 2011 - 
TL;DR: Improvement in the performance of first‐trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.
References
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Journal ArticleDOI

First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the nonseptated lesion.

Moshe Bronshtein, +3 more
- 01 Jul 1989 - 
TL;DR: The ultrasonic evaluation of the cystic hygromas revealed that those that were reabsorbed in the three ultimately normal viable fetuses were nonseptated cysts, whereas all the four cysts ending in fetal death or associated with aneuploidy were septated, multilocular hyGromas.
Journal ArticleDOI

Diagnosis and significance of cystic hygroma in the first trimester

Mark T. Cullen, +7 more
- 01 Oct 1990 - 
TL;DR: Of the 14 euploid embryos, six were electively aborted, two are undelivered, and six have been delivered as phenotypically normal infants.
Journal ArticleDOI

Fetal nuchal oedema: associated malformations and chromosomal defects.

Kypros H. Nicolaides, +3 more
- 01 Jan 1992 - 
TL;DR: The chromosomally normal fetuses with nuchal oedema had a very poor prognosis because, in many cases, there was an underlying skeletal dysplasia, a genetic syndrome or cardiac defect.
Journal ArticleDOI

Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich.

S. C. J. van der Putte
- 25 Nov 1977 - 
TL;DR: In this article, the structure and extension of the lymphatic system were studied in 7 spontaneously aborted fetuses characterized by a large cystic hygroma in the nuchal region and a prominent and generalized edema.
Journal ArticleDOI

Fetal nuchal cystic hygromata: associated malformations and chromosomal defects.

G.B. Azar, +3 more
- 01 Jan 1991 - 
TL;DR: During a 6-year period (1985-1990), blood karyotyping was performed in 44 fetuses with septated, bilateral, dorsal, cervical cystic hygromata, and 3 of the fetuses had multiple pterygium syndromes, and in such cases the risk of recurrence may be high.
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UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation

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Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study

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