ABSTRACT
We describe a series of 100 cases of prenatal genetic diagnosis using the technique of chorion villus sampling. The advantage of chorion villus sampling in terms of earlier diagnosis, and its disadvantage of a higher incidence of false results, compared with amniocentesis, are noted. The comparative risks for pregnancy loss are discussed.
Subject(s)
Chorionic Villi Sampling , Congenital Abnormalities/diagnosis , Abortion, Spontaneous/etiology , Chorionic Villi Sampling/adverse effects , False Negative Reactions , Female , Humans , New Zealand , Pregnancy , Pregnancy Trimester, First , Risk FactorsABSTRACT
Trisomy 16 detected at chorion villus sampling (CVS) may reflect the placental but not the fetal karyotype. We describe a case in which the pregnancy continued until intrauterine death at 37 weeks. Cytogenetic study of two placental samples showed 47, + 16 and 46,XX; the fetus was morphologically grossly normal, but fetal tissue culture was unsuccessful. Conservative management may be appropriate when trisomy 16 is detected at CVS and the pregnancy is normal ultrasonographically.
