Microarray analysis: First-trimester maternal serum free β-hCG and the risk of significant copy number variants

Prenatal Diagnosis
Eran BornsteinMichael Y Divon

Abstract

To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benign familial or de novo variants, and absence of heterozygosity were excluded. The prevalence of abnormal serum analytes was compared between patients with significant CNVs (n = 56) and those with normal CMA (n = 884). Odds ratios (ORs) and 95% confidence intervals (CI) were calculated using Fisher's exact test. Mantel-Haenszel method was utilized to adjust ORs for prenatal diagnostic procedure type and indications for testing. Statistical significance was determined as P value < 0.05. Abnormally low serum free β-hCG (≤0.45 MoM) was associated with an increased risk of significant CNVs (OR 3.53, 95% CI, 1.25-8.66, P < 0.01). This association remained significant after adjusting for abnormal nuchal translucency and advanced maternal age (AMA) (adjusted OR 3.04, 95% CI, 1.05-7.48, P < 0.05) or procedure type and AMA (adjusted OR 3.21, 95% CI 1.13-8.16, P < 0.05). The associations of abnormally high serum free β-hCG, low PAPP-A, and high...Continue Reading

References

Dec 4, 1993·BMJ : British Medical Journal·K SpencerJ N Macri
Oct 30, 1998·Prenatal Diagnosis·R BiagiottiA D'Agata
Sep 12, 2002·Prenatal Diagnosis·Yuval YaronAvi Orr-Urtreger
Oct 28, 2004·American Journal of Obstetrics and Gynecology·David KrantzUNKNOWN First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group
Nov 12, 2005·The New England Journal of Medicine·Fergal D MaloneUNKNOWN First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium
Nov 15, 2007·Prenatal Diagnosis·Kevin SpencerKypros H Nicolaides
Sep 1, 2009·American Journal of Obstetrics and Gynecology·Katherine R GoetzingerAnthony O Odibo
Jul 27, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S C HillmanM D Kilby
Mar 15, 2011·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·T Y LeungK W Choy
Jun 18, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hutton M KearneyUNKNOWN Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee
Oct 26, 2011·Prenatal Diagnosis·Maximilian SchmidBerthold Streubel
May 25, 2012·Prenatal Diagnosis·Lisa G ShafferDavid Chitayat
Dec 12, 2012·The New England Journal of Medicine·Ronald J WapnerLaird Jackson
Jan 1, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·O B PetersenUNKNOWN Danish Clinical Genetics Study Group
Jun 6, 2014·Obstetrics and Gynecology·Jennifer C DonnellyRonald J Wapner
Nov 14, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·I C B LundE M Vestergaard
Jan 10, 2016·Journal of Medical Toxicology : Official Journal of the American College of Medical Toxicology· American College Of Medical Toxicology
Dec 29, 2016·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Barış BükeBurcu Barutçuoğlu

❮ Previous
Next ❯

Citations

Jul 2, 2019·Cytogenetic and Genome Research·Zsolt TidrenczelArtúr Beke

❮ 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.