MENTAL RETARDATION Vol. 36, No. 1, 55-61, February 1998 Prenatal Diagnosis of Down Syndrome: Mothers’ Reflections on Supports Needed From Diagnosis to Birth David T. Helm, Sara Miranda, and Naomi Angoff Chedd circumstances was stressed. Abstract: A qualitative study involving 10 mothers who received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy was pre- sented. The time frame considered was diagnosis to delivery. We looked at how the diagnosis was presented, the decision to continue the pregnancy, and the mothers’ experience with professionals from diagnosis to delivery. Mothers’ sug- gestions to others facing the same challenges and to their health care providers were discussed as were the types of support given these mothers and what was or would have been most helpful to them. The importance of professionals re- viewing their procedures and protocols for working with families facing similar Te: has been little discussion in the pro- fessional literature as to what is helpful to mothers after they have received a prenatal di- agnosis of Down syndrome. The literature that is available suggests that reactions and percep- tions of mothers and medical professionals may vary in a number of significant ways. Cooley, Graham, Moeschler, and Graham (1990) com- pared reactions of mothers, nurses, and genetic counselors to a film about Down syndrome. Their results demonstrated some of those dif- ferences. Most notably, almost half of the ge- netic counselors believed that the problems outweighed the benefits of parenting a child with Down syndrome, whereas 94% of the mothers and 83% of the nurses believed that the benefits prevailed. In addition, medical pro- fessionals were more likely to assume that moth- ers will want to terminate a pregnancy after a prenatal diagnosis of Down syndrome; however, mothers were much more likely to want to con- sider all options, understand the known prog- nosis for children with Down syndrome, and gather as much information as possible before making a decision (Cooley et al., 1990; Evans, Pryde, Evans, & Johnson, 1993). Results in re- cent literature also suggest the need for a re- examination of the way in which prenatal di- agnoses are delivered and of the quality of re- sources made available to expectant couples. These investigators have concluded that ex- pectant parents need to be provided with com- prehensive information and more opportunities for counseling and support (Elkins, Stoval, Wilroy, & Dacus, 1997; Pueschel, 1991; Statham & Green, 1993; Stein, 1997). Their information was based on survey data (Elkins et al., 1986) or from responses to a case study (Stein, 1997), not from in-depth interviews with mothers of children who have Down syn- drome. Other authors have challenged profes- sionals to consider the ethical and legal issues of selective abortions based on disability (Glover & Glover, 1996). In much of the related literature, investi- gators have focused on counseling for parents who have received a diagnosis of Down syn- drome or other developmental disability upon the birth of their child and genetic counseling for couples considering another pregnancy (Pflueger, 1991). These authors have also tended to focus on parents’ decisions to either terminate or continue with a pregnancy and the rendering of decision-making strategies by Mental Retardation, February 1998 55counselors (VanPutte, 1988). There is good in- formation on how to support parents who have decided to terminate a pregnancy (Thayer, Ciarleglio, & Rucquoi, 1991); bereavement groups for such couples have been developed at a number of hospitals and clinics. What is lack- ing is information and guidelines on how to support parents who choose to continue with a pregnancy, from receipt of a prenatal diagnosis, until delivery (Saxton, Anderson, & Blatt, 1991) or for parents deciding to make an adop- tion plan (Finnegan, 1991). This information is crucial for parents who may face difficulties in adjustment, feelings of isolation, many parenting challenges, and an uncertain future (Barrett, 1992). It is important for providers to hear from all their patients about what they need and expect from them (Blatt, Miller, Haddow, 1991; Stein, 1997). In the present study we talked with mothers who had had these experiences and elicited what was helpful and what was not helpful from the period of the di- agnosis of Down syndrome to the delivery of their baby—a crucial period of uncertainty and concern. Method The 10 mothers in this study were referred to the Developmental Evaluation Center of the Institute for Community Inclusion at Children’s Hospital, Boston, a University Affiliated Pro- gram. They were referred either by genetic counselors working in area hospitals or through the Massachusetts Down Syndrome Congress parent referral service. Nine of the families par- ticipated in che Down Syndrome Program, which is part of the Developmental Evaluation Clinic/Institute for Community Inclusion at Children’s Hospital. One family was referred to the study by their HMO’s Down Syndrome Pro- gram. Each had been given a prenatal diagnosis and had decided to continue their pregnancy and to parent their child. The mothers were informed about the project, and each expressed astrong interest and willingness to be involved. Each mother was subsequently contacted via telephone, and all were enthusiastic about par- ticipating. That is, they all wanted an opportu- nity to “give back,” “let others know,” or to “teach” health care professionals what supports were needed. Data-Collection and Analysis We used an open-ended, semi-structured format, which lasted 2 to 4 hours, to interview the participants. We employed this methodol- ogy in order to allow the mothers to tell their stories and to recall and reconstruct their in- teractions with health care providers during that period of their lives. This is a well-known and familiar method in the social sciences (Ferguson, Ferguson, & Taylor, 1992; Taylor & Bogdan, 1984). We have all had extensive ex- perience in qualitative methods and interview- ing, and each of us interviewed 2 to 4 of the mothers. Participants were asked the same ques- tions in the same order. The questions were in- tentionally left open to provide a framework that allowed the respondents to tell their story. Questions asked included: How did you discover the diagnosis? What influenced your decision to continue the pregnancy? What was your ex- perience from the time of the diagnosis to the delivery? Within these question-answer dia- logues, probing comments and requests for elaboration were frequent, thus helping to clarify each person's story. It was also helpful that all the respondents knew, trusted, and re- spected the second author because of various clinical encounters, work on ot participation in projects related to children with Down syn- drome, and parent-to-parent referral programs. This trust, we believe, contributed to their will- ingness to be open and honest and to reveal intimate details of their personal experiences. Following this section of the interview was a series of questions focused on the type of ad- vice these mothers would offer medical profes- sionals and other parents experiencing a similar sequence of events. We used written notes and audio tapes to record the mothers’ comments. Written field notes generated about 6 pages per interview. We listened to tapes and selectively transcribed seg- ments, which generated about 50 pages out of a possible 500 plus. We reviewed the transcripts using an emergent themes approach, which is a qualitative research technique (Glaser & Strauss, 1967). Other qualitative analysis were employed, including content analysis of the interviews and triangulation, to determine rel- evant categories to report. For example, each author grouped and sorted data, which were then reviewed by another author. These ana- lytic methods conform to standard qualitative methodologies (Glaser & Strauss, 1967; Hagner & Helm, 1994). 56 — Mental Retardation, February 1998Participants Of the 10 mothers interviewed, 6 were raised Catholic; 3, Protestant; and 1, Jewish. All were European American. Mothers’ ages ranged from 28 to 42 years at the time of diagnosis. At the time of the interviews, their children with Down syndrome ranged from age 11 weeks to 6 years. Nine mothers were living with their hus- bands, the children’s fathers, and one was a single parent. Five of the mothers had attended postcollege graduate school, 1 had completed college, 3 had a high school diploma; and 1, a high school equivalency diploma. Three fami- lies had a gross income of over $65,000; 1 was in the $55,000 to 65,000 range; 3, $45,000 to 55,000; 1, $35,000 to 45,000; 1, $15 to 25,000 range; and 1, less chan $15,000. Limitations We recognize that this study has limita- tions. For instance, because we only interviewed 10 mothers, all of whom were of European de- scent, the generalizability of these findings are limited; furcher, because we interviewed only mothers, we obviously did not determine fa- thers’ views of what was needed during this time, which may have been different from those of the mothers. We felt, however, that the mothers had the most contact with providers and, thus, were most likely to be affected, posi- tively or negatively, by the advice given. We also note, however, that the uniformity of the reactions of these mothers indicates an in- creased level of reliability of the findings and the potential importance of the information. Findings We have arranged the findings to reflect the emergent quality of the study and, thus, mirror the chronology from the mothers’ stories. "It’s Down Syndrome”: Getting a Diagnosis All of the mothers received a prenatal di- agnosis of Down syndrome as a result of having amniocentesis. Most received the news by a telephone call from either their obstetrician or obstetrical nurse. Two mothers got the diagno- sis at a scheduled appointment with their ob- stetrician. Three of the mothers had been offered am- niocentesis earlier in their pregnancy due to their age but refused because they were not par- ticularly concerned about the possibility of an abnormality. These 3 were convinced by their physicians to have an ultrasound performed, two of which showed possible cardiac defects of the fetus. One of the ultrasounds indicated the pos- sibility that the fetus had two club feet. These 3 mothers subsequently had amniocentesis af- ter being informed that the identified abnor- malities might be related to Down syndrome or other congenital anomaly. Two other mothers consented to having amniocentesis to alleviate their husbands’ fears. Four others had low mater- nal serum alpha feto-protein (MSAFP) levels and felt pressured by their providers to have amnio- centesis quickly because of legal time limits for pregnancy termination. Another reported that she opted for amniocentesis, having been influenced by having a cousin with Down syndrome. Initially, none of the mothers had more than passing concerns about the possibility of a fetal abnormality; therefore, they were all sur- prised by the findings. Six of the mothers felt that their obstetricians or obstetrical nurse dis- played negative attitudes when discussing the diagnosis. One mother reported that her obste- trician said, “I know you said you wouldn't have an abortion. A lot of couples say that, but when, faced with reality, change their minds.” Another mother reported the following exchange: Obstetrician: You have to move quickly. There is a doc- tor at [Hospital X] who does late-term abortions. Mother: No, I told you I'm not going to have an abor- tion, Obstetrician: Talk to your husband. You might want to think about it. One mother was informed via a phone call from her obstetrical nurse: “I'm afraid I don’t have good news at all. It’s Down syndrome.” Another reported that her obstetrician said, “'m giving you 5 days to decide which day you will terminate. Call me and I'll book it.” An- other mother reported that her obstetrician told her, “This child will not accomplish anything. Everyone [in my practice] has aborted.” Shortly after receiving a diagnosis, one mother was told by an employee in her geneti- cist’ office that it was too late for an abortion in the state she resided in, but told her: “I can get you on a plane to [another state in which late-term abortions are permitted] if you leave at 4:00 p.m. today.” This mother had not indicated an interest in terminating her preg- nancy. The 4 other mothers described their ex- periences in receiving the diagnosis as either “neutral” or “nonjudgmental.” Mental Retardation, February 1998 57Each of the mothers recalled with great clarity exactly how they were told of the diag- nosis, where they were at the time, who they were with, and the feelings and reactions the news evoked. Cleatly, the receipt of a prenatal diagnosis requires an adjustment for every ex- pectant parent and may have lifelong implica- tions. It is a time during which clinicians have a tremendous opportunity to be helpful, sup- portive, and empathetic, and it is important that, they be able to effectively communicate news that is unexpected and often unwelcome (Gill & Maynard, 1995; Klein, 1993). Values and Support: The Decision to Continue the Pregnancy The mothers’ decision-making process to continue their pregnancy once they received a diagnosis of Down syndrome was based on a number of themes, many interrelated. These included past religious training, broad moral values, personal experiences with other people with disabilities, “seeing” the fetus on the moni- tor after experiencing years of infertility, and support and reactions from family and friends. Five of the mothers who were raised Catho- lic reported that they were influenced, to vary- ing degrees, by their religious background. For instance, of those, 2 considered themselves pro- choice and felt it was a broader moral, rather than a religious, decision. The sixth mother who was raised Catholic said that she had long ago considered the possibility of having a child with a disability and made the decision then to par- ent “whatever child I gave birth to.” Four of these mothers reported that having support from family and friends helped them make the deci- sion to continue, and they did not feel that re- ligion was the deciding factor. One mother reported that when she called her sister with the news, her response was, “You'd make a great mom for a kid with Down syndrome.” Three also had relatives with Down syndrome or other developmental disability or had worked with children who had disabilities and had had posi- tive experiences. One other mother in the study reported that “there was no decision to make. I never considered terminating,” and did not elaborate beyond that statement. A number of the mothers reported that a major influence to continue the pregnancy was seeing the heartbeats and the “face” of the un- born fetuses on the ultrasound screens and feel- ing fetal movement. One of these mothers noted her 7-year history of infertility as a factor in her decision; another reported that it took her 5 years to get pregnant. The other mother men- tioned that her four miscatriages (one before and three after her first son) probably had a bearing on her decision to continue with this pregnancy, ‘A general theme mentioned by most of the mothers was the importance of the support and reactions of family and friends. Two mothers noted the differences between the reactions of their families and those of their husbands. One noted that both her parents and in-laws were uninformed and unrealistic, with one side be- lieving her child would be “a comatose veg- etable,” and the other expecting that the baby would have “only a mild case of Down syn- drome.” Three mothers reported support from. clergy—one Catholic, one Protestant, and one Jewish—on doing what they felt was necessary, even if it included termination. Four mothers reported that they felt more positive when they were able to talk about realistic expectations for their babies with physicians and other cli- nicians who were well-informed about Down syndrome. One couple had almost decided to terminate the pregnancy until their geneticist told them about the option of placing their baby for adoption because there were waiting lists of families hoping to adopt a child with Down syn- drome. After talking about why they felt they could not handle an opportunity for which oth- ers were willing to wait many months, the couple decided to continue with the pregnancy and parent their child. Assumptions and Attitudes: Experiences From Diagnosis to Delivery Although experiences varied and some were positive and reassuring, all of the mothers reported meeting with some health care profes- sionals, including obstetricians, nurses, techni- cians, and genetic counselors, whom they felt did not support their choice to continue the pregnancy. The most frequently reported nega- tive experience was meeting a clinician who assumed that the mother would terminate the pregnancy if she could. When the mothers ex- pressed dissent or ambivalence, it often was met with resistance, disbelief, or lack of support. One mother reported that her obstetrician turned on his speaker phone to consult with another physician, who, upon hearing that the family had decided to continue the pregnancy, 58 — Mental Retardation, February 1998said, “What are they, Mormons or something?” Another mother interpreted her genetic counselor's questioning as negative and discour- aging, saying: She treated me as though I couldn't accept this news, although I told her I could. She asked, “What are you going to say to people when they ask you how you could bring a child like this into che world” Another reported that during a visit to a hospital emergency room after a fall, she was asked by the physician who treated her, “You're going to keep it?” Half of the mothers had simi- larly disconcerting experiences with their ob- stetricians and more than half reported cold or distant reactions from technical staff during amniocentesis and ultrasound examinations. ‘Two reported that their genetic counselors ex- pressed disbelief that they were considering continuing with the pregnancy. The majority of the mothers, however, did report some conversations and reactions that were helpful and supportive. One couple re- called with pleasure that their obstetrician, upon hearing about their decision to continue the pregnancy, hugged them and said, “So, we're still going to have a baby? Let’s get on with it.” Another reported that her genetic counselor ex- plained all the options and the known prognosis and provided realistic expectations. Another ge- netic counselor phoned one mother long after they had met just to find out how the family was do- ing, which the mother greatly appreciated. Information-sharing. All mothers reported that receiving some printed material about Down syndrome was an important aspect in their preparation during the prenatal period. However, they all felt that some of the infor- mation they received from various health care providers, including obstetricians, geneticists, and diagnostic staff, was out-of-date or inad- equate. One mother reported that she was shocked that the printed material she received from a geneticist referred to “mongoloids,” a long-outdated term. Other literature was simi- larly out of step with current knowledge and terminology. Although the mothers differed in their need and desire to immediately study the literature they received, all reported that they eventually wanted to read clear, up-to-date in- formation on Down syndrome. The 9 mothers who were in contact with the Down Syndrome Program at Children’s Hospital received up-to- date books and pamphlets and reported that the information was valuable in their preparation for parenting their child with Down syndrome. Parent-to-parent referrals. Meetings or phone conversations with parents who had children, with Down syndrome were described as a great source of support and information by 6 moth- ers. These referrals came through a nurse (once), genetic counselors (twice), were self- referred as a result of parents’ own research (twice), and by a cardiologist (once). Four mothers indicated that they did not want to talk: to other parents until they had finalized their decision to go forward with the pregnancy. Once they made that decision, talking with a parent of achild with Down syndrome was cited as the single most important connection they had made during the prenatal period. Advice to Medical Professionals ‘As part of the interview, all of the partici- pants were asked to make recommendations to health care professionals who work with par- ents undergoing prenatal testing. Their rec- ommendations read like a “good practice” guideline, yet all had reported breaches of these guidelines in their own experience with health care providers. The advice given professionals is summarized as follows: * Make sure parents understand all prenatal tests. * Give the diagnosis in person if possible * Give the news to both parents at the same time. * Donot make assumptions about the parents’ decision. * Do not make judgments about the parents’ decision. * Give nonjudgmental information on all three options: continuation of the pregnancy and parenting, continuation of the pregnancy and adoption placement, and termination of pregnancy. * Give up-to-date printed material on Down syndrome. * Make referrals to Down syndrome programs. * Do not accentuate the negative. * Do not use negative terminology. * Do not pity parents, but do recognize that they may feel a loss. Mental Retardation, February 1998 59.Advice to Other Mothers Ac the end of the interview, the mothers were also asked to offer advice to other parents undergoing prenatal testing for Down syndrome. This paralleled the advice given professionals: * Be sure to understand the purpose of each prenatal test. * Get up-to-date literature on Down syndrome in addition to oral information. ‘* Take as much time as you can in making your decision; try not to feel rushed or pressured by others’ opinions. * Consider the positive and negative aspects of all options. * Ifyou decide to continue the pregnancy, then talk to parents of children of different ages with Down syndrome. * Speak with early intervention providers * Ger in touch with Down syndrome programs. * Talk to family, friends, and other helpful sup- ports * Gather as much information and resources as you can. * Listen to your inner voice, be honest with yourself, and crust yourself. Discussion Our in-depth interviews with 10 mothers who had received a prenatal diagnosis of Down syndrome allowed us to explore in more detail how mothers felt about the support they re- ceived from their professionals during this pe- riod. The uniformity of these mothers’ requests for respect and consideration from their profes- sionals cannot be overstressed. They felt that although none of their providers had necessar- ily meant to be inconsiderate, all too often the style, professional bias, and personal assump- tions of many health care providers effectively undermined their ability to make their own decisions with clarity. That is, the parents felt that they did not have support and, thus, were forced to continue to question their own deci- sion-making process. This was viewed as a particularly stressful time in the lives of these mothers. They all claimed they could recall in detail exactly what was said to them, by whom, and where they were when they heard the information. All too of- ten the parents were not supported in arriving at their own fully informed decision because the providers were overtly or covertly advocating from their own point of view. It was up to the mothers to seek information elsewhere, caus- ing additional anxiety and uncertainty. They repeatedly stressed that it is incumbent on pro- fessionals to present all options available to parents in an open-minded way and to provide current and up-to-date information. Mothers were not saying that professionals should have no opinions, only that they needed to provide all options in a nonjudgmental way in order to allow the families to come to their own con- clusions. If asked for personal or professional opinions, providers certainly could give them, but, co be fair, it was important that they base their opinions on current information. Each mother was adamant that throughout the pre- natal experience professionals need be sure that parents understand exactly what each test would be used for and what would be involved in the procedure. Further, if possible, results of tests and procedures should be communicated in per- son, with both parents present. The currency of information was critical. All professionals were admonished that they cannot assume that, they know what a parent will decide and must, therefore, be fully aware of their own bias. Professionals need to review their proce- dures, information booklets, and protocols to be sure that they have up-to-date information for those who decide to continue their preg- nancy and who want to parent or to make an adoption plan as well as for parents who want to terminate the pregnancy. Many of these mothers stressed that it is equally if not more important to have current literature for parents who have no idea what their final decision will be, but who want to consider all options. They also suggested that by using parents to review their literature, protocols, and procedures, pro- viders could better ensure that truly family-cen- tered care was being delivered. Finally, the mothers pointed out the lan- guage that professionals use was also critical. ‘As noted previously, these mothers reported exactly what was said them. Negative terminol- ogy of accentuation of difficulties was found to be quite unhelpful and resulted in long-term resentment by mothers. They recommended that professionals avoid using negative termi- nology; for example, one mother reported her obstetrician said: “Nature has a way of taking 60 — Mental Retardation, February 1998care of these babies; you'll probably have a mis- carriage.” These mothers are not saying that they want information to be “sugar-coated.” They want the truth; but there are many ways of providing the same information. They were clear that they were not looking for pity; rather, they wanted respect. In turn, they respected and appreciated professionals who could support their decision-making process. References Barrett, M. E. (1992, March). 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Ethical considerations relating to prenatal diagnosis of fetuses with Down syn- drome. Mental Retardation, 29, 185-190. Saxton, M., Anderson, B., & Blatt, R. J. R_ (1991). Prenatal diagnosis and pregnancy options: Continu- ing the pregnancy. The Genetic Resource, 1, 33-35. Statham, H., & Green, J. (1993). Serum screening for Down syndrome: Some women’s experiences. British Medical Journal, 307, 174-176. Stein, M.T. (1997). Responding to parental concerns after a prenatal diagnosis of Trisomy 21. Journal of Developmental and Behavioral Pediatrics, 18, 42— 46. Taylor, S. J., & Bogdan, R. (1984). Introduction to ‘qualicative research methods: The search for mean- ing (2nd ed.) New York: Wiley. Thayer, B., Ciarleglio, L., & Rucquoi, J. (1991). Pre- natal diagnosis and pregnancy options: Termina- tion support groups. The Genetic Resource, 6(1),, 39-42. VanPutte, A. (1988). Perinatal bereavement crisis: Coping with negative outcomes from prenatal di- agnosis. Journal of Perinatal and Neonatal Nursing, 2(2), 12-22. Received 4/7197, first decision 5/19/97, accepted 6/30/97. Editor-in-Charge: Steven J. Taylor This project was supported, in part, by Health Resources and Services Administration, the U.S. Department of Health and Human Services; Grant No. MC}-259150 from the Maternal and Child Health Bureau; and Grant No. 90DD0357 from the Administration for Children and Fami- lies, Administration on Developmental Disabilities. No offi- cial endorsements of this research should be infeed. Authors: DAVID T. HELM, PAD, Director of In- terdisciplinary Training (e-mail:helm@al.tch. harvard.edu), and SARA MIRANDA, LICSW, Director of Social Work, Institute for Community Inclusion, University Affiliated Program, Children’s Hospital, 300 Longwood Ave., Boston, MA 02115. NAOMI ANGOFF CHEDD, BA, Graduate Stu- dent, Lesley College (Cambridge, MA), 172 Naples Rd., Brookline, MA 02146. Requests for reprints should be sent to the first author. Mental Retardation, February 1998 61