PRENATAL DIAGNOSISPrenat Diagn 2002; 22: 1102–1106.Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/pd.472

Parental decisions to abort or continue a pregnancy with anabnormal finding after an invasive prenatal test

Joel Zlotogora*Department of Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel

Objective To determine the importance of various factors on the decisions whether to terminate or continuea pregnancy after an abnormal result.

Methods The decisions of 1467 women who had an abnormal result after an invasive prenatal test wereexamined according to their religion, the time of diagnosis and the severity of the disorder.

Results When the examinations were performed by chorionic villus sampling (CVS) among both Jews andnon-Jews most of the women opted to terminate the affected pregnancy. After amniocentesis the rate oftermination of pregnancy was still very high among cases in which Down syndrome or other significantchromosomal aberrations were diagnosed among Jews. For all the other diagnostic groups either among Jewsor non-Jews there was a significant proportion of the cases in which the women decided to continue thepregnancy. A significant exception about the decisions of the couples was in the case of hemoglobinopathy-affected pregnancies among Arabs since both after CVS and amniocentesis many women often decided tocontinue the pregnancy.

Conclusion The main factor in the decision to terminate or continue the pregnancy is the severity of thedisorder diagnosed. However, among Arabs other factors are important, in particular the time at which thediagnosis is made. Copyright 2002 John Wiley & Sons, Ltd.

KEY WORDS: prenatal diagnosis; amniocentesis; CVS; Arabs; Jews

INTRODUCTION

For most of the severe genetic diseases, prevention isbased during pregnancy on prenatal diagnosis and ter-mination of the pregnancy of affected fetuses. In Israel,invasive prenatal diagnosis is offered free of charge toall citizens, either because of age (women older than35 years at the beginning of the pregnancy) or becauseof an increased risk as determined after genetic coun-selling (risk for a monogenic disorder, results of thetriple test or significant ultrasound anomalies) (Chemkeand Zlotogora, 1997). It has been our experience thatonly very few women have an invasive prenatal exam-ination when they know that the information obtainedwill not be used to consider the abortion of an affectedfetus. In Israel, the two major religious groups are Jews(80%) and Muslim Arabs (15%) and among them dif-ferent attitudes toward termination of pregnancy (TOP)and as a consequence the rates of utilisation of inva-sive prenatal diagnosis are observed. In the Jewish Lawinterruption of pregnancy is forbidden after the 40th dayand therefore the ultra-Orthodox community rarely usethe tests and only some of the religious Jews use them.There are several views as to whether elective abortionmay be allowed according to Islam if the fetus is affectedwith a severe condition, but in most cases elective abor-tion is not permissible after 120 days of pregnancy. For

*Correspondence to: Joel Zlotogora, Department of CommunityGenetics, Public Health Services, Ministry of Health, Building 67,Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621, Israel.

some of the religious Muslim Arab population, termina-tion of pregnancy is absolutely forbidden and for most ofthe population that is religious/conservative late termina-tion is problematic (Hathout, 1997). In previous studiesit has been shown that a significant number of Arabwomen do not interrupt their pregnancy even when thefetus is diagnosed to be affected when the diagnosis islate in pregnancy (Sheiner et al., 1998; Zlotogora andReshef, 1998).

Decisions concerning prenatal testing and TOP ofaffected fetuses are complex and many factors areinvolved (Kramer et al., 1998; Browner et al., 1999;Moyer et al., 1999; Bell and Stoneman, 2000; Brittet al., 2000). The present study was performed in orderto try to determine in the Israeli population major factorsfor decisions after receiving an abnormal result of aprenatal diagnosis after an invasive test.

PATIENTS AND METHODS

A national registry was established in 1998 that includedall the abnormal findings after invasive prenatal exami-nation (CVS or amniocentesis) performed in Israel. Thedata comprise the religion of the couple, the indicationsand results of the prenatal examination, and the deci-sion concerning pregnancy, termination or continuationof pregnancy.

Abnormal findings included in the present study werecytogenetic abnormalities that were either not inheritedor balanced and monogenic diseases in which data on the

Copyright 2002 John Wiley & Sons, Ltd. Received: 4 February 2002Revised: 10 June 2002

Accepted: 30 June 2002

PARENTAL DECISIONS AFTER AN INVASIVE PRENATAL DIAGNOSIS 1103

decision concerning the pregnancy were available. Sig-nificant chromosomal findings were autosomal trisomies,either complete or partial, in which a severe prognosiswas expected. The chromosomal findings with unclearsignificance included all the sex chromosome aberrationsand the de novo apparently balanced structural changes.

We excluded the cases in which elevated alpha-fetoprotein/cholinesterase was the abnormal findingsince in most cases we did not have data about theultrasound findings. In addition we excluded the casesin which the diagnosis was X-linked ichthyosis since wecould not distinguish between the diverse clinical alter-natives about the severity which were discussed with thecouples according to the family histories.

The statistical analyses were done with the χ2 test.

RESULTS

Jews

Among the 1129 abnormal findings which were diag-nosed among Jews after an invasive test, in 153 cases(13.6%) a monogenic disease was diagnosed and theother 976 cases had a chromosomal aberration, mainlyDown syndrome (510 cases).

Decision to continue the pregnancy according tothe type of examination (Table 1)

Out of 229 abnormal findings diagnosed after CVSexamination, in 12 cases the pregnancy was not termi-nated (5.2%), while out of 900 cases diagnosed after

amniocentesis the pregnancy was not terminated in 102cases (11.3%, p < 0.01).

Decision to continue the pregnancy according tothe type of condition (Table 2)

In 153 cases a monogenic disease was diagnosed andthe pregnancy was not terminated in ten cases (6.5%).

Out of 510 diagnoses of Down syndrome in 16 cases(3.1%) the pregnancy was not terminated. Among the191 other cases in which a significant chromosomalaberration was diagnosed in 15 cases the pregnancy wasnot terminated (7.8%).

In each case the rate of termination was higher whenthe diagnosis was after CVS than after amniocentesis.

When the chromosomal changes diagnosed after pre-natal diagnosis were not clearly associated with a severedisorder the rate of continuation of pregnancy was muchhigher than in any of the other groups. This was observedeither when the results were obtained after CVS or afteramniocentesis. In 8/40 (20%) of such cases diagnosedafter CVS the pregnancy was not terminated and in65/235 (27.6%) after amniocentesis.

Decision to continue the pregnancy according tothe indication (Table 3)

The rate of TOP was in a similar range whatever theindication was either for CVS or amniocentesis. In thecases diagnosed after amniocentesis the highest rates oftermination were observed when an ultrasound finding

Table 1—Decisions concerning the pregnancy after abnormal results according to the religion and thetype of examination

Terminated Not terminated (%) Total

CVS in Jewish womenMonogenic diseases 106 3 (2.8) 109Down syndrome 38 38Significant chromosomal findings 41 1 (2.4) 42Chromosomal findings with unclear significance 32 8 (20) 40Total 217 12 (5.2) 229

Amniocentesis in Jewish womenMonogenic disease 37 7 (15.9) 44Down syndrome 456 16 (3.4) 472Significant chromosomal findings 135 14 (9.4) 149Chromosomal findings with unclear significance 170 65 (27.6) 235Total 798 102 (11.3) 900

CVS in Arab womenMonogenic disease 37 1 (2.6) 38Hemoglobinopathies 33 5 (13.2) 38Down syndrome 3 3Other significant chromosome findings 5 5Total 78 6 (9.3) 84

Amniocentesis in Arab womenMonogenic disease 14 2 (12.5) 16Hemoglobinopathies 9 9 (50) 18Down syndrome 63 8 (11.3) 71Other significant chromosome findings 17 10 (37) 27Chromosomal findings with unclear significance 8 9 (52.9) 17Total 102 46 (29.3) 157

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Table 2—Decisions concerning the pregnancy after abnormal results according to the diagnosis

Arabs Jews

Total Aborted (%) Total Aborted (%) Significancea

Prenatal diagnosis of Down syndromeCVS 3 3 (100) 38 38 (100) NSAmniocentesis 71 63 (88.7) 472 456 (96.6) NSSignificanceb NS NS

Prenatal diagnosis of monogenic diseases (hemoglobinopathies excluded)CVS 38 37 (97.4) 100 97 (91.5) NSAmniocentesis 16 14 (87.5) 44 37 (84.1) NSSignificanceb NS NS

Prenatal diagnosis of significant chromosome findings not including Down syndrome(severe prognosis)

CVS 5 5 (100) 42 41 (97.6) NSAmniocentesis 27 17 (63) 149 135 (90.6) p < 0.001Significanceb NS NS

Prenatal diagnosis of chromosomal findings with unclear significanceCVS 1 1 40 32 (80) NSAmniocentesis 17 8 (47) 235 170 (72.4) NSSignificanceb NS NS

a The significance of the difference was analyzed in each type of test between Jews and Arabs.b The significance of the difference was analyzed in each group between CVS and amniocentesis.NS, Not significant.

was the indication (94%) and the lowest when it was amonogenic disease (82%).

Non-Jews

Among the 241 abnormal findings which were diagnosedamong non-Jews after an invasive test, in 110 cases thefetus was affected with a monogenic disease (46.2%)and in the other 123 cases a chromosomal aberration,mainly Down syndrome (74 cases).

Decision to continue the pregnancy according tothe type of examination (Table 1)

Out of 84 abnormal finding diagnosed after CVS exam-inations in six cases the pregnancy was not terminated(9.3%), while out of 157 cases diagnosed after amnio-centesis it was not terminated in 46 cases (29.3%,p < 0.001).

Decision to continue the pregnancy according tothe type of condition (Tables 2 and 4)

In 54 cases a monogenic disease other than a hemo-globinopathy was diagnosed and the pregnancy was notterminated in three cases (5.6%).

In 56 cases a hemoglobinopathy was diagnosed andthe pregnancy was not terminated in 14 cases (25%).

Out of 74 diagnoses of Down syndrome, in eightcases (10.8%) the pregnancy was not terminated. Amongthe 32 other cases in which a significant chromosomalaberration was diagnosed in ten cases the pregnancy wasnot terminated (31.3%).

In 17 cases the chromosomal changes were notclearly causing a severe disorder and in nine cases thepregnancy was not terminated (52.9%).

In each group of diagnoses the rate of terminationwas much higher when the diagnosis was after CVSthan after amniocentesis.

Decision to continue the pregnancy according tothe indication (Table 3)

After amniocentesis, more than 10% of the women didnot terminate the pregnancy whatever the indicationwas. The highest percentages of women who decidednot to terminate the pregnancy even though the resultswere abnormal were seen when the indication was eitheran hemoglobinopathy (50%) or an abnormal ultrasoundfinding (35.5%).

DISCUSSION

The data presented here are from a very select groupsince in order to be included the women had first tohave an invasive test. In this group of women it wasexpected that when the diagnosis was the one for whichthe procedure was performed most would terminate theirpregnancy. This was indeed the case for the examina-tions performed by CVS among both Jews and non-Jewsin whom only very few women did not opt to termi-nate an affected pregnancy. A significant exception wasseen in hemoglobinopathy-affected pregnancies amongArabs. While after amniocentesis the rate of TOP wasstill very high among cases in which Down syndromewas diagnosed among Jews, for all the other diagnosticgroups either among Jews or non-Jews in a significant

Copyright 2002 John Wiley & Sons, Ltd. Prenat Diagn 2002; 22: 1102–1106.

PARENTAL DECISIONS AFTER AN INVASIVE PRENATAL DIAGNOSIS 1105

Table 3—Decisions concerning the pregnancy after abnormal results at amniocentesis

Arabs Termination/total Jews Termination/total

Indication n Percentagea n Percentagea

Age (years) 36/40 90 444/507 87.6Monogenic disease 14/16 87.5 (NS) 37/45 82.2 (NS)Triple test results 45/55 81.8 (NS) 183/206 88.8 (NS)Ultrasound 20/31 64.5 (p < 0.01) 157/167 94 (NS)Hemoglobinopathy 9/18 50 (p < 0.001)

a The significance of the difference was analyzed in each case when the indication was age and anyother type of indication Jews and Arabs.NS, Not significant.

proportion of the cases the woman decided to continuethe pregnancy (Table 3). The highest rate of continuationof pregnancy was for the hemoglobinopathies amongArabs (50%).

Evans et al. (1996) in a study of 310 chromo-somal abnormalities diagnosed after invasive prena-tal diagnosis demonstrated that the parental decisionsfor TOP were mainly determined by the severity ofthe disorder and much less by the gestational age atthe time of diagnosis. Indeed, among Jews the high-est rates of termination were when a severe diseasewas diagnosed. However, similar to the observationsmade by Evans et al. (1996), whatever was the find-ing, there was a tendency for a higher percentage ofparents who opted for TOP when the diagnosis wasmade early, but the time factor was not statisticallysignificant.

Among Arabs, the highest rates of TOP were alsoobserved in those cases in which the clinical severitywas predicted to be severe. However, there were twoexceptions: the first was the group of significant chro-mosomal anomalies other than Down syndrome, andthe second the group of hemoglobinopathies. In mostof the cases in which the pregnancy was not terminatedwhen a severe chromosomal aberration other than Downsyndrome was diagnosed, the indication for amniocen-tesis was abnormal findings at ultrasound. There were atotal of ten cases in which the indication for an inva-sive test was an abnormal ultrasound and in which thepregnancy was not terminated. In these ten cases thechromosomal findings were significant (two Down syn-drome, one trisomy 13, five trisomy 18 and one Turnersyndrome, one partial trisomy). Since most detailed

ultrasound examinations are performed after 20 weeksof pregnancy, when the indication for amniocentesisis an abnormal ultrasound, it implies that amniocente-sis was done late and therefore that the results wereobtained very late during the pregnancy. Therefore it isprobable that in those cases the decision not to termi-nate the pregnancy was not related to the severity ofthe finding but to the religious/conservative views onlate abortions.

Another specific group in which the rate of termi-nation was relatively low among Arabs was the onefor which the indication was a hemoglobinopathy. Thiswas particularly significant when comparing the attitudeof the couples in which the diagnosis was of anothermonogenic disorder (Table 4). After CVS in only 1/38cases in which a monogenic disease was diagnosed inthe fetus, the couple decided to continue the pregnancy(3%) as compared to 5/38 cases of hemoglobinopathies(13%). An even more pronounced trend was observedafter amniocentesis: 2/16 cases (13%) continued preg-nancies in monogenic diseases and 9/18 (50%) for thehemoglobinopathies. There may have been several fac-tors that led to this relatively high rate of continuationof pregnancy when the diagnosis was a hemoglobinopa-thy. In Israel, among Arabs the detection of the cou-ples at risk for monogenic disorders is because of anaffected child, either to the couple or in the close fam-ily, and population carrier screening is offered only fordetection of thalassemia in the communities at risk.Therefore, it is probable that many of the couples atrisk for a child affected with an hemoglobinopathywere detected by screening and therefore have not been

Table 4—Decisions concerning the pregnancy after abnormal results according to the diagnosis:prenatal diagnosis of monogenic diseases among Arabs

Hemoglobinopathies Monogenic other

Total Aborted (%) Total Aborted (%) Significancea

CVS 38 33 (86.8) 38 37 (97.4) NSAmniocentesis 18 9 (50) 16 14 (87.5) p < 0.025Significanceb p < 0.01 NS

a The significance of the difference was analyzed in each type of test between hemoglobinopathies andother monogenic diseases.b The significance of the difference was analyzed in each group between CVS and amniocentesis.NS, Not significant.

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exposed to the disease. This may be particularly impor-tant when the diagnosis was done late during preg-nancy when the consideration to interrupt a pregnancyagainst the religious beliefs is balanced with the per-ceived severity of the disease. The variability of thehemoglobinopathies is significant either between the dif-ferent diseases or within each disease. Most of theexamined couples were at increased risk for a childaffected with a severe form of thalassemia. However,since the disease is frequent in the Arab population, itmay be assumed that the parents knew about the exis-tence of milder forms of the disease and the hope thattheir child may be mildly affected may also have influ-enced their decision. The final factor may have beenthe prospect of cure and the hopes raised by new typesof treatment including bone marrow transplantation. Itis probable that in most of the families several fac-tors lead to the final decision of continuing the preg-nancy. Analysis of the families in which the pregnancywas not terminated reveals indeed that 7/9 couples thatdecided to continue the pregnancy after amniocente-sis were discovered by screening and did not have anaffected child.

While in many cases time may not be statisticallysignificant in the decisions whether or not to terminateabnormal pregnancies, it represents an important factorfor the final decisions in the non-Jewish couples. Thisfactor is particularly significant in the case of either verylate diagnosis and for diseases in which the couplesat risk are detected through screening such as thehemoglobinopathies.

REFERENCES

Bell M, Stoneman Z. 2000. Reactions to prenatal testing: reflection ofreligiosity and attitudes toward abortion and people with disabilities.Am J Ment Retard 105: 1–13.

Britt DW, Risinger ST, Miller V, Mans MK, Krivchenia EL, Evans M.2000. Determinants of parental decisions after the prenatal diagnosisof Down syndrome: bringing in context. Am J Med Genet 93:410–416.

Browner CH, Preloran HM, Cox SJ. 1999. Ethnicity, bioethics, andprenatal diagnosis: the amniocentesis decisions of Mexican-originwomen and their partners. Am J Public Health 89: 1658–1666.

Chemke J, Zlotogora J. 1997. Genetic services in Israel. Eur J HumGenet 5(Suppl. 2): 105–111.

Evans MI, Sobiecki MA, Krivchenia EL, et al. 1996. Parentaldecisions to terminate/continue following abnormal cytogeneticprenatal diagnosis. “What” is still more important than “When”.Am J Med Genet 61: 353–355.

Hathout H. 1997. Islamic views on some reproductive issues. InGenetic Disorders Among Arab Populations (Oxford Monographson Medical Genetics, No. 30), Teebi AS, Farag TI (eds). New York,NY: Oxford University Press; 496–473.

Kramer RL, Jarve RK, Yaron Y, et al. 1998. Determinants of parentaldecisions after the prenatal diagnosis of Down syndrome. Am J MedGenet 79: 172–174.

Moyer A, Brown B, Gates E, Daniels M, Brown HD, Kupper-mann M. 1999. Decisions about prenatal testing for chromosomaldisorders: perceptions of a diverse group of pregnant women. JWomens Health Gend Based Med 8: 521–531.

Sheiner E, Shoham-Vardi I, Weitzman D, Gohar J, Carmi R. 1998.Decisions regarding pregnancy termination among Bedouin couplesreferred to third level ultrasound clinic. Eur J Obstet GynecolReprod Biol 76: 141–146.

Zlotogora J, Reshef N. 1998. Prenatal genetic testing among Arabs.Prenat Diagn 18: 219–224.

Copyright 2002 John Wiley & Sons, Ltd. Prenat Diagn 2002; 22: 1102–1106.