TY - JOUR
T1 - Increased nuchal translucency in euploid fetuses - What should we be telling the parents?
AU - Bilardo, C. M.
AU - Timmerman, E.
AU - Pajkrt, E.
AU - van Maarle, M.
PY - 2010
Y1 - 2010
N2 - Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.
AB - Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=75649104945&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/20077440
U2 - https://doi.org/10.1002/pd.2396
DO - https://doi.org/10.1002/pd.2396
M3 - Review article
C2 - 20077440
SN - 0197-3851
VL - 30
SP - 93
EP - 102
JO - Prenatal diagnosis
JF - Prenatal diagnosis
IS - 2
ER -