Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

Abstract

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turner syndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18 = 77.5 per cent).

Retinopathy of Prematurity and Maternal Age

“…As is the case with Western developed nations, increased maternal age in our study group may be attributed to women deciding to pursue their education and career goals, resulting in marriage and childbirth at a relatively later time in their lives compared with women a few decades ago 18. Increased maternal age is associated with many other conditions, including Down syndrome,19 Turner syndrome,20 autism spectrum disorders,21 defects in cardiac septation,22 cystic fibrosis, and hemoglobinopathies 23. Drazdiene et al24 performed a retrospective analysis of ROP risk factors in 256 premature infants.…”

Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi

“…Follow-up ultrasound investigations were performed in our department as described previously (Wladimiroff et al, 1995). In cases of termination of pregnancy (TOP), con®rmation of the cytogenetic abnormality was performed in as many cases as possible.…”

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

“…Thus, the early detection of affected foetuses relies primarily on prenatal screenings routinely performed for the majority of pregnancies such as ultrasonography 20,21 (which allows the detection of growth retardation, disproportionately large head, hydatidiform placental changes, myelomenigocele, and syndactylies), the AFP test, 22 low maternal estriol excretion and, in a proportion of diandric triploidies, excessive maternal serum-gonadotropin levels. On the basis of the results presented in this report, it would seem that the determination of paternal versus maternal origin of the triploidy does not allow any conclusion as to the survival of the foetuses and prognosis.…”