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

What's already known about this topic? Basic NIPT is a sensitive method that may reveal unexpected structural chromosomal abnormalities What does this study adds? The case illustrates the importance of choosing the right sample (chorionic villi or amniotic fluid) and analytical method e.g. QF‐P...

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Veröffentlicht in:	Prenatal diagnosis 2016-12, Vol.36 (12), p.1112-1114
Hauptverfasser:	Lildballe, Dorte Launholt, Vogel, Ida, Lund, Ida Charlotte Bay, Stornes, Inger, Jørgensen, Mette Warming, Vestergaard, Else Marie
Format:	Artikel
Sprache:	eng
Schlagworte:	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 Health risk assessment 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
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Beschreibung
Zusammenfassung:	What's already known about this topic? Basic NIPT is a sensitive method that may reveal unexpected structural chromosomal abnormalities What does this study adds? The case illustrates the importance of choosing the right sample (chorionic villi or amniotic fluid) and analytical method e.g. QF‐PCR or arrayCGH for confirmative analysis after an abnormal NIPT result.
ISSN:	0197-3851 1097-0223
DOI:	10.1002/pd.4943