Parental decision following prenatal diagnosis of fetal chromosome abnormality

Abstract

In the event of prenatal diagnosis of fetal chromosome abnormality, parents must choose between continuation and termination of the pregnancy. To determine whether parents are capable of understanding differences in severity among aneuploidy syndromes, we examined the outcome chosen for all pregnancies in which a fetal chromosome disorder was diagnosed at Northwestern Memorial Hospital between January, 1977 and June, 1986. Among amniocentesis cases, 88% with autosomal aneuploidy were terminated, but only 41% with sex chromosome abnormalities and none with de novo structural rearrangements were terminated. Among a smaller group of chorionic villus sampling cases, all with abnormal results were terminated. Similar patterns of parental behavior were noted in other prenatal diagnosis units. We conclude that parents do distinguish among, and respond specifically to, fetal chromosome disorders of differing severity, at least in the second trimester of pregnancy. However, parents appear more inclined to terminate all pregnancies with chromosome abnormalities when the diagnosis has been made in the first trimester.

Genetic Analysis in Pregnancy with Fetal Pathologic Ultrasound Findings

“…Table 2 and Table 3 show the details of terminated cases. other authors have shown that the termination rates are highest following a prenatal diagnosis of Down syndrome and lowest following diagnosis of Klinefelter syndrome (3,4,5,10,11,13,19). our results are in concordance with prior findings of an increased rate of termination in the case of a more severe prognosis (e.g.…”

“…autosomal trisomy) compared with that for abnormal karyotypes with a less severe prognosis (e.g. sex chromosome aneuploidy) (3,4,5,10,11,13,19).…”

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

“…Descriptive data: Type of SCA represented the most frequent factor associated with terminating a pregnancy, identified in more than half of the reviewed studies (57.9%). 3,[8][9][10]18,20,22,23,[27][28][29] Two specific types of SCAs, 45,X (Turner syndrome) and 47,XXY (Klinefelter syndrome), in particular, were associated with termination. Nine studies (47.4%) [8][9][10]18,20,23,[27][28][29] indicated that parents with a Turner syndrome-affected fetus would be more likely to terminate the pregnancy, with an average termination rate of 76% (range: 33-100%).…”

“…Nine studies (47.4%) [8][9][10]18,20,23,[27][28][29] indicated that parents with a Turner syndrome-affected fetus would be more likely to terminate the pregnancy, with an average termination rate of 76% (range: 33-100%). Seven studies (36.8%) 3,[8][9][10]18,20,22 reported a diagnosis of Klinefelter syndrome led parents to decide to terminate the pregnancy, yielding an average termination rate of 61% (range: 44-85%). As an example, a study conducted by Sagi et al 20 examined 60 cases from patient records in the 10 years between 1989 and 1998 and identified that all five pregnancies (100%) exhibiting 45,X (Turner syndrome) and 85% (n = 7) with 47,XXY (Klinefelter syndrome) were terminated.…”

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

“…In these cases, about 60-90% of parents choose to terminate the pregnancy after receiving the diagnosis of the abnormality. [22][23][24] In Brazil, the current legislation does not provide permission for termination of a pregnancy in cases of chromosomal abnormalities, and this practice is typified in the country's Criminal Code. There are favorable judicial decisions for termination in the case of anomalies incompatible with life.…”