Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study

Lancet
S CiceroK H Nicolaides

Abstract

Prenatal diagnosis of trisomy 21 requires an invasive test in women regarded as being at high risk after screening. At present there are four screening tests, and for a 5% false-positive rate, the sensitivities are about 30% for maternal age alone, 60-70% for maternal age and second-trimester maternal serum biochemical testing, 75% for maternal age and first-trimester fetal nuchal translucency scanning, and 85% for maternal age with fetal nuchal translucency and maternal serum biochemistry at 11-14 weeks. In this study, we examined the possible improvement in screening for trisomy 21 by examining the fetal nasal bone with ultrasound at 11-14 weeks of gestation. We did an ultrasound examination of the fetal profile in 701 fetuses at 11-14 weeks' gestation immediately before karyotyping for a possible chromosomal abnormality detected by maternal age and fetal nuchal translucency screening. The presence or absence of a nasal bone was noted. The fetal profile was successfully examined in all cases. The nasal bone was absent in 43 of 59 (73%) trisomy 21 fetuses and in three of 603 (0.5%) chromosomally normal fetuses. The likelihood ratio for trisomy 21 was 146 (95% CI 50-434) for absent nasal bone and 0.27 (0.18-0.40) for present na...Continue Reading

References

Aug 15, 1992·BMJ : British Medical Journal·N J WaldL Butler
Jan 1, 1991·Prenatal Diagnosis·H CuckleN Wald
Mar 10, 1998·Obstetrics and Gynecology·C S von KaisenbergK H Nicolaides
May 26, 1999·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K SpencerK H Nicolaides
Apr 28, 2000·Human Reproduction·S BöhlandtB Brand-Saberi
Apr 24, 2001·Current Opinion in Obstetrics & Gynecology·H Cuckle

❮ Previous
Next ❯

Citations

Feb 4, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·B Benoit, R Chaoui
Jan 16, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S CiceroK H Nicolaides
Jan 16, 2003·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L D Platt
Mar 7, 2003·Indian Journal of Pediatrics·Madhulika Kabra
Mar 14, 2012·Pediatric Radiology·Judy A Estroff
Mar 18, 2008·Archives of Gynecology and Obstetrics·Paulo Sérgio CossiAntonio Fernandes Moron
May 28, 2010·Archives of Gynecology and Obstetrics·Naim UnsalNuri Danisman
Jul 9, 2010·Irish Journal of Medical Science·W-H ChiuF-Y Yang
Dec 16, 2003·Obstetrics and Gynecology·Fergal D MaloneUNKNOWN Society for Maternal-Fetal Medicine
Sep 3, 2002·Clinica Chimica Acta; International Journal of Clinical Chemistry·Peter A Benn
Feb 11, 2003·Obstetrics and Gynecology·Pekka TaipaleVilho Hiilesmaa
May 10, 2003·Obstetrics and Gynecology·Anthony VintzileosLami Yeo
Apr 20, 2002·Lancet·Giovanni MonniRosa Maria Ibba
Apr 20, 2002·Lancet·Helle HjalgrimKaren Broendum-Nielsen
Apr 20, 2002·Lancet·Pierangela De Biasio, Pier Luigi Venturini
Apr 20, 2002·Lancet·Tim M Reynolds
Oct 16, 2003·Placenta·S CiceroK H Nicolaides
Apr 16, 2002·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·H S Cuckle
Jun 12, 2009·The New England Journal of Medicine·Deborah A Driscoll, Susan Gross
Oct 10, 2003·The New England Journal of Medicine·Ronald WapnerUNKNOWN First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group
Oct 9, 2002·Clinical Obstetrics and Gynecology·Renu BindraKypros H Nicolaides
Nov 5, 2003·Clinical Obstetrics and Gynecology·Wesley Lee
Nov 5, 2003·Clinical Obstetrics and Gynecology·James F X Egan
Nov 5, 2003·Clinical Obstetrics and Gynecology·Karlla K Welch, Fergal D Malone
Sep 16, 2003·Obstetrical & Gynecological Survey·Anthony O OdiboGeorge A Macones
Jun 1, 2007·Ultrasound Quarterly·Celeste Sheppard, Lawrence D Platt
Mar 14, 2007·Current Opinion in Obstetrics & Gynecology·Fionnuala M Breathnach, Fergal D Malone
Aug 20, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiUNKNOWN ACMG Laboratory Quality Assurance Committee
Apr 19, 2008·Obstetrical & Gynecological Survey·F M NdumbeJ C Konje
Dec 31, 2009·Obstetrical & Gynecological Survey·Anthony Shanks, Anthony Odibo
May 19, 2004·Gynecologic and Obstetric Investigation·Sefa KelekciSüha Sönmez
Apr 9, 2005·Gynäkologisch-geburtshilfliche Rundschau·Elisabeth Krampl
Aug 17, 2006·Fetal Diagnosis and Therapy·A S WeingertnerR Favre
Jul 27, 2007·Fetal Diagnosis and Therapy·Mark I EvansKypros H Nicolaides
May 28, 2008·Fetal Diagnosis and Therapy·Recep HasAlkan Yildirim
Jan 18, 2013·BMC Pregnancy and Childbirth·Chitkasaem SuwanrathSavitree Pranpanus
Mar 8, 2005·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Lene HansenInger Kjaer
Feb 9, 2008·Medicinski pregled·Aleksandra Novakov-Mikić
Jan 20, 2004·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Katherine W FongJo-Ann Johnson
Apr 20, 2002·Lancet·David J R Hutchon
Feb 19, 2014·Best Practice & Research. Clinical Obstetrics & Gynaecology·Shayna N ConnerAlison G Cahill
Dec 21, 2011·Archives of Gynecology and Obstetrics·Gui Tarcisio MazzoniHeverton Neves Pettersen
Dec 2, 2004·Obstetrics and Gynecology·Fergal D MaloneUNKNOWN FASTER Research Consortium

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.