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Non‐invasive prenatal testing offered as part of a combined first‐trimester screening program identifies tetrasomy 18p in a high‐risk pregnancy
Author(s) -
Lildballe Dorte Launholt,
Vogel Ida,
Lund Ida Charlotte Bay,
Stornes Inger,
Jørgensen Mette Warming,
Vestergaard Else Marie
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4943
Subject(s) - tetrasomy , chorionic villi , prenatal screening , obstetrics , second trimester , first trimester , prenatal diagnosis , pregnancy , amniotic fluid , medicine , aneuploidy , trisomy , gynecology , chorionic villus sampling , amniocentesis , genetics , biology , fetus , chromosome , gene
What's already known about this topic? Basic NIPT is a sensitive method that may reveal unexpected structural chromosomal abnormalitiesWhat 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.