PubMed · 14289521
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J L BURKS, M E DAVIS, A H BAKKEN. 1965. AUTOSOMAL TRISOMY.. https://pubmed.ncbi.nlm.nih.gov/14289521/
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Numerous advances over the past 15 years have led to a much wider array of prenatal testing options for pregnant women who are interested in obtaining information regarding the chromosomal status of their fetus. However, despite recent data calling into question the assumptions underlying current testing guidelines, including those inherent in the risk-based threshold for offering invasive testing, chorionic villus sampling and amniocentesis are still typically offered only to women whose likelihood of carrying a fetus affected by a chromosomal disorder such as Down syndrome is at least as high as that of the average 35-year-old. In this paper, we summarize the evidence suggesting that this aspect of prenatal testing guidelines should be revisited, and that women should be allowed to make informed decisions regarding the use of invasive testing that are reflective of their own values and preferences.
BACKGROUND: The possible excess of congenital malformations in infants born after in vitro fertilization (IVF) has been much discussed in the literature, with controversial conclusions. This population based study is aimed at analyzing the presence of congenital malformations in a large group of infants born after IVF and to compare malformation risk both with that of all infants born and according to IVF method used. METHODS: Infants born after IVF during the period 1982-2001 were ascertained from all IVF clinics in Sweden. The presence of congenital malformations was identified from three national health registers: the Swedish Medical Birth Register, the Swedish Registry of Congenital Malformations, and the Swedish Hospital Discharge Register. The IVF children were compared with all children born in Sweden during the same period and recorded in the Swedish Medical Birth Register. RESULTS: Among 16,280 IVF children (30% conceived after intracytoplasmatic sperm injection [ICSI]) a 42% excess of any congenital malformation was found, explainable by parental characteristics and in some cases by the high rate of multiple births. Among these children, 8% had a congenital malformation, and 5% had a relatively severe condition. For neural tube defects, choanal atresia, and alimentary tract atresia, an additional risk increase was seen. There was no difference in malformation rate according to IVF method except for an excess of hypospadias after ICSI. CONCLUSIONS: An increased risk for congenital malformations occurs after IVF, similar for the different IVF techniques used, and mainly a consequence of parental characteristics. A few specific conditions show an extra increase in risk.
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