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Fetal nuchal fluid‐physiological or pathological?—In pregnancies less than 17 menstrual weeks
Author(s) -
Wilson R. D.,
Venir N.,
Farquharson D. F.
Publication year - 1992
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.1970120908
Subject(s) - medicine , amniotic fluid , obstetrics , fetus , pathological , nuchal translucency measurement , gestational age , pregnancy , aneuploidy , chromosome abnormality , gynecology , prenatal diagnosis , pathology , chromosome , karyotype , biology , biochemistry , genetics , gene
For pregnancies less than 17 menstrual weeks, increasing amounts of nuchal fluid increase the risks of chromosome abnormalities with localized nuchal fluid, diffuse nuchal fluid, cystic hygroma, and fetal hydrops having chromosomal risks of 12, 23, 50, and 78 per cent, respectively. The ultrasound appearance of localized or diffuse nuchal fluid is not a specific discriminator, but a fluid depth of greater than or equal to 5 mm may be an indicator of increased risk of fetal chromosomal abnormalities. If the fluid depth is less than 5 mm, there is a stronger negative predictive value and negative likelihood risk of a fetal chromosome abnormality. Gestational age did not improve the fluid depth predictive value. Differentiation of physiological from pathological requires chromosome analysis, serial ultrasound evaluation, and good clinical examination as a newborn and possibly as a young child. Long‐term follow‐up of those cases identified with resolving nuchal fluid abnormalities is not available and is required for a complete understanding of physiological and pathological aetiologies. Genetic counselling for fetal nuchal fluid would be recommended.