Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy

Prenat Diagn. 2016 Dec;36(12):1112-1114. doi: 10.1002/pd.4943. Epub 2016 Nov 10.

Authors

Dorte Launholt Lildballe¹, Ida Vogel¹, Ida Charlotte Bay Lund¹, Inger Stornes², Mette Warming Jørgensen^{1

3}, Else Marie Vestergaard¹

Affiliations

¹ Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
² Department of Obstetrics and Gynecology, Regional Hospital Randers, Randers, Denmark.
³ Department of Pathology Aarhus, University Hospital, Aarhus, Denmark.

PMID: 27743407
DOI: 10.1002/pd.4943

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Amniocentesis
Aneuploidy
Chorionic Gonadotropin, beta Subunit, Human / blood
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics
Chromosomes, Human, Pair 18 / genetics
DNA / blood
DNA / genetics*
Female
Humans
Nuchal Translucency Measurement
Peptide Fragments / blood
Polymerase Chain Reaction
Pregnancy
Pregnancy Trimester, First
Pregnancy, High-Risk
Pregnancy-Associated Plasma Protein-A / metabolism
Prenatal Diagnosis

Substances

Chorionic Gonadotropin, beta Subunit, Human
Peptide Fragments
urinary gonadotropin fragment
DNA
Pregnancy-Associated Plasma Protein-A
PAPPA protein, human

Supplementary concepts

Chromosome 18, tetrasomy 18p