Prenatal diagnosis of cystic fibrosis: ultrasonography of the gallbladder at 17-19 weeks of gestation

Fetal Diagnosis and Therapy
F DuchatelA Boué

Abstract

We have investigated the ultrasonographic signs that can help in the prenatal diagnosis of cystic fibrosis in 197 risk fetuses and compared them with 353 control fetuses. In 60 fetuses with a 1:4 risk for the disease, the gallbladder was also examined. All ultrasonograms were performed just before amniocentesis at 17-19 weeks of gestation. A previously described intra-abdominal hyperechogenic mass was found in 73% of the 48 affected fetuses, but 32 of the 149 unaffected fetuses also had this feature, giving a specificity of 77% and a sensitivity of 78%. When we investigated the gallbladder, we found 9 of the 12 affected fetuses to be without evidence of a gallbladder during the sonographic examination (none of the healthy or control fetuses had such a feature), giving a positive predictive value of 100%, a specificity of 100% and a sensitivity of 75%. The combined presence of an abnormal gallbladder and a hyperechogenic intra-abdominal mass yields the same positive predictive value and specificity, but does not improve the accuracy. Ultrasonography appears to be a good additional diagnostic tool for the prenatal diagnosis of cystic fibrosis, especially when the enzyme activities disagree. Furthermore, these results lead us to t...Continue Reading

Citations

Jul 2, 1999·Obstetrics and Gynecology·B M BerlinB A Allitto
Nov 13, 2001·BJOG : an International Journal of Obstetrics and Gynaecology·L BurcD Luton
Jun 1, 2010·European Journal of Human Genetics : EJHG·Alix de BecdelièvreEmmanuelle Girodon
Feb 13, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A M StrockerL D Platt
Jun 1, 2014·Journal de gynécologie, obstétrique et biologie de la reproduction·M MatarO Picone
May 19, 2007·Prenatal Diagnosis·Yifat OchshornYuval Yaron
Oct 29, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·O ShenM Gal
Nov 5, 2011·Prenatal Diagnosis·Ingrid DuguépérouxClaude Férec
Aug 1, 1995·American Journal of Obstetrics and Gynecology·F MullerF Narcy
Feb 7, 2008·Korean Journal of Radiology : Official Journal of the Korean Radiological Society·Min Hoan MoonHyeun Cha Cho
Feb 1, 1995·Prenatal Diagnosis·W SepulvedaN M Fisk
Oct 1, 1994·Prenatal Diagnosis·R Bahado-SinghM J Mahoney
Nov 20, 2018·The Kurume Medical Journal·Mamatha HosapatnaVrinda Hari Ankolekar

❮ 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.