CONGENITAL-MALFORMATIONS SUBSEQUENT TO CHORIONIC VILLUS SAMPLING - OUTCOME ANALYSIS OF 1048 CONSECUTIVE PROCEDURES

We wished to identify the types and frequencies of malformations among continuing pregnancies exposed to chorionic villus sampling (CVS) and to determine whether selected procedure-related variables differ betw een the normal and anomalous cohorts. CVS was performed in 1048 patien ts between May 1988 and January 1992. Prospective assessment of perina tal outcome was ascertained by (1) physician-patient phone contact wit hin 1 week of sampling, (2) ultrasound evaluation of the fetal anatomy at mid-gestation, (3) a detailed post-partum questionnaire completed by the referring obstetrician, and (4) a telephone interview with each patient after the expected date of confinement. Twenty-seven major ma lformations were documented among 938 pregnancies (live born, n=934; e lectively terminated, n=4), and included cardiac malformations (5), hy pospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal he rnia (2), polydactyly (2), syndactyly, distal extremely hemimelia, ane ncephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragma tic hernia, thanatophoric dysplasia, and unilateral cataract. Normal a nd anomalous cohorts were similar with respect to sampling method (tra nsabdominal/transcervical ratio), mean gestational age at CVS, single- pass success rate, and mean total sample weight. No relationship betwe en any procedure-related variable and the risk of malformation was obs erved.