“Prenatal Diagnosis of Down Syndrome: Mothers’ Reflections on Supports Needed From Diagnosis to Birth” (1998), by David T. Helm, Sara Miranda, and Naomi Angoff Chedd

On 1 February 1998, David T. Helm, Sara Miranda, and Naomi Angoff Chedd published “Prenatal Diagnosis of Down Syndrome: Mothers’ Reflections on Supports Needed From Diagnosis to Birth,” hereafter “Mothers’ Reflections,” in the journal Mental Retardation. In 2007, Mental Retardation changed its name to Intellectual and Developmental Disabilities. Down syndrome is the result of an extra copy or partial copy of chromosome 21, also known as Trisomy 21. It is characterized by traits such as intellectual disabilities, differing facial features, and a high risk for heart disease. In the study, the authors interviewed ten mothers, all of whom had elected to continue with their pregnancy after a prenatal diagnosis of Down syndrome, about their experiences with health care professionals. The article provides suggestions for health care professionals, such as providing up-to-date materials and unbiased information and avoiding judgmental language, so that when mothers receive a prenatal diagnosis of a developmental disability, they are prepared and supported.

1. Author Backgrounds
2. Knowledge of Down syndrome Preceding “Mother’s Reflections”
3. Prenatal Screening for Down Syndrome: Methods and Controversies
4. A Roadmap of “Mothers’ Reflections”
5. The Content of “Mothers’ Reflections”
6. The Impact of “Mothers’ Reflections”

Author Backgrounds

The authors of “Mothers’ Reflections” all worked with those with developmental disabilities. As of 2023, Helm has been involved in the field of disabilities for more than thirty years and is director of the Leadership Education in Neurodevelopmental and Related Disabilities, or LEND, at the Institute for Community Inclusion at Boston Children’s Hospital in Boston, Massachusetts. LEND is a training program for a range of individuals, such as counseling professionals and family members, to better work with children, adolescents, and young adults with disabilities. He has also taught courses at various institutions such as Harvard Medical School in Boston, Massachusetts, and served on a number of boards such as the Association of University Centers on Disabilities. At the time of publication, Miranda was director of social work for Children’s Hospital in Boston, Massachusetts. At the time of publication, Angoff Chedd was a graduate student at Lesley College in Cambridge, Massachusetts. As of 2023, she is a Director of Counselling at Counslr, an application that provides mental health support through online messaging and is a Licensed and Board Chartered Behavior Analyst.

Knowledge of Down syndrome Preceding “Mother’s Reflections”

Before “Mothers’ Reflections,” understanding surrounding Down syndrome evolved from simple observations in the nineteenth century to a condition that scientists recognize is caused by a chromosomal difference. John Langdon Down, a physician who worked in England during the nineteenth century, originally described Down syndrome as “Mongolism,” but the condition was eventually renamed after Down. Down published an article in 1866, which contained his early descriptions of the syndrome, while he worked as the medical superintendent for The Royal Earlswood Hospital, formally known as Earlswood Asylum for Idiots. However, it was not until 1958 when Jérôme Lejeune, a physician and researcher who worked in Paris, France, discovered that the syndrome occurs due to a chromosomal abnormality. After the discovery of the cause of Down syndrome, other researchers who studied genetics determined that the term “Mongolism” was inaccurate, as there was no racial basis behind the syndrome. Those researchers suggested other names to The Lancet, a scientific journal, such as “Trisomy 21 anomaly,” or “Down Syndrome Anomaly,” and the editor of the journal went with Down syndrome. Then in 1965, the World Health Organization confirmed the renaming of Down syndrome, and that eventually became the more accepted term.  

“Mother’s Reflections” was published at the end of the 1990s, a decade when people with disabilities became increasingly recognized as having rights and needs. According to the Global Down Syndrome Foundation, as late as the 1990s, people with Down syndrome and other intellectual disabilities were treated with discrimination and inhumanity in the United States. Historically, people with intellectual disabilities and mental illnesses have often been left in inhumane institutions, where they had no access to basic necessities, rather than being provided with support. However, as more people have become aware and accepting of those with Down syndrome and other disabilities, people have recognized the need for better care. In 1990, former president George H. W. Bush signed the Americans with Disabilities Act, which prohibits discrimination against people with disabilities.  

Prenatal Screening for Down Syndrome: Methods and Controversies

In “Mothers’ Reflections,” all of the mothers had a prenatal test called amniocentesis that confirmed that their fetus had Down syndrome. Prenatal testing is a way for healthcare providers to check whether a fetus has any birth defects or genetic or chromosomal conditions during a pregnancy. Throughout pregnancy, a physician provides various screening options to the pregnant person during each trimester. Amniocentesis is a prenatal test that is typically done during the second trimester. Some of the reasons a pregnant person may get amniocentesis is if they are older than thirty-five, if their family has a history of genetic conditions, or if the mother is at risk for birth defects. Amniocentesis uses the amniotic fluid, which is the fluid surrounding the fetus in a pregnant person, as a sample for testing inherited diseases. After collecting the amniotic fluid, a health care professional will analyze the DNA in it to confirm whether there is a genetic difference such as Down syndrome. If a mother receives a prenatal diagnosis of a health condition from the testing, she has options and must make decisions about her pregnancy, which is why there is need for resources and support to help with those decisions.

Into the 1990s, prenatal Down syndrome screenings like amniocentesis became systematic, which stimulated a widespread debate about the importance of facilitating reproductive choice and the ethics of preventing the birth of children with disabilities. The availability of prenatal screening makes it so that a pregnant person can know whether their fetus has Down syndrome, or any other disabilities before birth. The pregnant person then has to face the decision of whether to continue the pregnancy or not. Some individuals and organizations, like the National Right to Life Committee, claim that more women choose to terminate their pregnancy when they receive a prenatal Down syndrome diagnosis, which the Committee argues is unethical. However, others argue that prenatal testing allows mothers to make a choice about continuing their pregnancy and helps them prepare for it, which all of the mothers in “Mothers’ Reflections” had to do. Helm and colleagues interviewed the mothers to understand their decisions and experiences throughout that process in order to provide advice for health care professionals and future mothers.

To provide such advice, the authors conducted a qualitative study, or a study where researchers gather non-numerical data and analyze it, using interviews with ten mothers who chose to continue their pregnancy after receiving a prenatal diagnosis of Down syndrome. The authors state that at the time of publication, there was not much literature available on what was helpful for mothers after getting a prenatal Down syndrome diagnosis. Instead, there were studies on the varying reactions and perceptions between mothers and health care professionals. “Mothers’ Reflections” aimed to produce a study that explores better ways to support mothers after a Down syndrome diagnosis who decide to continue on with the pregnancy.

A Roadmap of “Mothers’ Reflections”

“Mothers’ Reflections” consists of four sections. The first section, an untitled introduction, explains that there is a lack of research on improving support for mothers who decide to continue with their pregnancy after a prenatal diagnosis of Down syndrome. The second section, “Methods,” consists of three separate sub-sections, “Data Collection and Analysis,” “Participants,” and “Limitations.” In those sub-sections, the authors describe how the ten mothers were referred to the study, as well as the questions they asked the mothers, the mothers’ demographic information, and the limitations to the study. “Findings,” the third section, consists of five sub-sections. In those sub-sections, the authors describe the mothers’ stories chronologically through their diagnosis, their decision-making process, their experience with health care professionals, and the advice the mothers would give to both health care professionals and other mothers going through the same experience. In the final section, “Discussion,” the authors state that mothers need better support, more up-to-date resources, and what they regard as respect from health care professionals throughout their diagnosis, decision making process, and beyond.

The Content of “Mothers’ Reflections”

In the untitled introduction, Helm and colleagues begin by establishing that mothers and health care professionals hold different perspectives on raising a child with Down syndrome. The authors reference physician William Carl Cooley and his colleagues who conducted a study in 1990 that assessed the reactions of genetic counselors, nurses, and mothers to a film about Down syndrome. The results of their study suggested that more mothers and nurses think that there are more benefits to raising a child with Down syndrome, while, in comparison, almost half of the genetic counselors did not think the benefits outweigh the problems. Furthermore, the study found that health care professionals automatically assume that mothers do not want to continue their pregnancy after a prenatal diagnosis of Down syndrome. On the contrary, the mothers in Cooley’s study wanted to know more about their situation and examine all their options before making a decision about continuing their pregnancy. The authors of  “Mothers’ Reflections” build on Cooley and colleagues’ study to better understand what mothers’ specifically need after receiving a prenatal diagnosis of Down syndrome.

Continuing in the untitled introduction, Helm and colleagues point out the lack of research on what support mothers need after they receive a prenatal diagnosis of Down syndrome. The authors emphasize that other researchers have called for reexamining the way that health care professionals convey prenatal diagnoses to expecting mothers and the resources they provide. Helm and colleagues state that they aim to collect information in their study that can help improve the quality of resources and support mothers receive. The authors of “Mother’s Reflections” explain that there are sufficient resources for mothers who decide to terminate their pregnancy, but there are fewer resources for parents who do continue with their pregnancy after a prenatal diagnosis with the intention to raise the child, or for those who choose to put the child up for adoption. To gather information that better supports those parents, the authors conducted detailed interviews with ten mothers about what helped them through their decision. The authors argue that, using the experiences of those mothers as an example, providers can implement patient suggestions to improve their care and support for mothers with a prenatal Down syndrome diagnosis.

The authors begin the “Methods” section of the article by providing details on the referral process, as well as the details of their interview process. Helm and colleagues included ten mothers who had received a prenatal diagnosis of Down syndrome and wanted to proceed with their pregnancy and parent their child. Various professionals referred the mothers to the Developmental Evaluation Center of the Institute for Community Inclusion at Children’s Hospital in Boston, Massachusetts. The authors interviewed the ten mothers through a semi-structured format by asking each of them the same open-ended questions in the same order, allowing the mothers to recount their experiences. The authors explain that the trust between the mothers and Miranda due to her previous encounters with the mothers contributed to the honest responses the mothers gave during their interviews. The authors also recorded the advice the mothers had for parents in the same situation, as well as health care professionals. Using written notes and audio recordings from the interviews, they analyzed the content of the interviews.

Continuing in the “Methods” section, the authors explain the demographics of the mothers, as well as the limitations of their study. The mothers in the study were all European-American women who ranged from age twenty-eight to forty-two years at the time of diagnosis. Among the mothers, six had a Catholic background, three had a Protestant background, and one had a Jewish background. The authors reported that only one of the mothers was a single parent, while the other nine lived with their husbands. The average gross income of the families ranged from less than $15,000 to about $65,000, and the education levels of the mothers ranged from a high-school diploma to post-college graduate school. The authors note that the study was limited by having a lack of diversity, as all of the mothers were of European descent, a small sample size, and not interviewing the fathers. Despite the limitations, the authors found uniformity in the reactions of the mothers, which the authors argue increases the reliability and importance of their findings.

In “Findings,” the first sub-section titled “‘It’s Down Syndrome’: Getting a Diagnosis,” showcases the mothers’ experiences of receiving a prenatal diagnosis and how the physicians discussed it with them. The prenatal diagnosis of Down syndrome was found through amniocentesis for all ten mothers. After receiving the prenatal diagnosis of a fetal abnormality, the mothers were all surprised by the findings because they had not previously been concerned about the possibility of having a pregnancy with Down syndrome. Of the ten mothers, six felt that the health care professionals discussed their diagnosis with what they regarded as negative attitudes. Some of the interactions the authors report include an obstetrician who stated that despite one of the mothers not wanting an abortion, she would change her mind in the face of reality. Another exchange the authors quote is between an obstetrician and a mother. The obstetrician encouraged the mother to move quickly, informing her of a doctor at a hospital that does late-term abortions, and even after the mother refused, the physician advised her to talk to her husband about it. Another mother was told by her obstetrician that her child would not accomplish anything and that everyone else in the obstetrician’s practice had aborted. Despite that, four of the other mothers reported their experiences as “neutral” or “nonjudgmental” when receiving the diagnosis. The authors emphasize that since the mothers in the study recalled the diagnosis with clarity, it is important for them to receive support, empathy, communication, and help from clinicians after prenatal diagnosis, because it is often unexpected for parents.

The next sub-section in the “Findings” section, titled “Values and Support: The Decision to Continue the Pregnancy,” discusses the influences that affected the mothers’ decisions to continue their pregnancies, such as religious backgrounds and support received from family, friends, and others. Five of the mothers with a Catholic background conveyed that their religious background made them more willing to continue their pregnancy. Another mother with a Catholic background explained that she had previously considered the possibility of a having a child with a disability and she would parent any child that she had. Having relatives with Down syndrome or other developmental disabilities or working with children with disabilities made three other mothers more confident in their decision to continue the pregnancy. One couple considered terminating their pregnancy until their geneticist made them aware of the option for adoption and the number of families hoping to adopt a child with Down syndrome. That couple ultimately decided to continue with their pregnancy and parent their child. Four of the mothers felt that there was no religious influence behind their decisions, but instead found the support from their family and friends to be crucial. The general theme that the authors noted was that almost all of the mothers felt that the support they got from family, friends, partners, clergy, and health care professionals was very important to them.

In the “Assumptions and Attitudes: Experiences From Diagnosis to Delivery” sub-section, the authors relay that throughout their pregnancy the mothers had negative and positive interactions with healthcare professionals, wanted up-to-date, accurate material about Down syndrome, and formed valuable connections with other parents who have kids with Down syndrome. All ten mothers reported at least one health care professional not supporting their decision to proceed with their pregnancy. Despite those interactions, a majority of the mothers also relayed helpful and supportive conversations with other health care professionals. The authors also suggest a need for improvement in informational material that mothers receive about Down syndrome because the mothers reported that the information they received was not up to date. For example, one mother found the term “mongoloids”  in her material. When given proper reading material from the Down Syndrome Program at Children’s Hospital, those mothers found the information important in preparation for their child. Additionally, the authors note that for all of the mothers, a meeting or phone conversation with parents who had children with Down syndrome was a valuable connection, as it provided them with support and information.

The next sub-section, “Advice to Medical Professionals,” discusses recommendations from the mothers to health care professionals on improving their care when a mother receives a prenatal diagnosis of Down syndrome. Some of those recommendations include making sure the parents understand the prenatal tests and that they give the diagnosis in person to both parents at once. Other recommendations are based on the mothers feeling judged and not receiving adequate information. The mothers recommend that health care professionals not make assumptions or judgments about the parents’ decision, provide current, nonjudgmental information about all of a mother’s options, avoid negative terminology and accentuating the negative aspects of the situation, make referrals to Down syndrome programs, and not pity parents while recognizing their current feelings.

The mothers also offer advice to other mothers and parents undergoing prenatal testing and receiving a Down syndrome diagnosis in the fifth sub-section, “Advice to Other Mothers.” The advice includes understanding what prenatal testing is, seeking literature and oral information on Down syndrome that is not outdated, and gathering as much information and resources as possible. The mothers also advised taking as much time as possible with the decision, while considering the positive and negative aspects. The mothers also advised that other parents in their situation talk to others, such as family, friends, intervention providers, and parents of children with Down syndrome, as well as being honest and trusting oneself.

The final section in “Mothers’ Reflections” is the “Discussion” section, which explores how the mothers’ experiences with health care professionals during their pregnancies can set an example for ways to improve care provided by those professionals in the future. Helm and colleagues state that during the stressful time in the lives of the mothers, they all requested respect and consideration from their professionals so that they could make their decision with clarity. The mothers recognized that the health care professionals have opinions, but the mothers felt that they should present their options in a non-judgmental way to allow the family to come to their own conclusions about continuing their pregnancy. The authors also emphasize providing current literature to parents as they go through the decision-making process. Another critical component of the care the mothers received was the language the professionals used. The mothers reported that negative terminology was not helpful to them, and that they appreciated professionals who could support their decision-making process by providing the truth in a compassionate and respectful manner.

The Impact of “Mothers’ Reflections”

According to Google Scholar, “Mothers’ Reflections” has been cited 121 times as of 2023. In 2008, Cath Jackson and colleagues, researchers who have conducted studies in health care and medicine in England, authored a systematic review that examined the decision support that parents require while making health decisions for their children. According to Jackson and colleagues, decision support is anything that provides a person with pertinent information and that helps them clear up their values to help them make an informed decision. They cited Helm and colleagues’ article to show that providing parents with information about all of their options is necessary for them to make informed health decisions. “Mothers’ Reflections” has also been cited in various other articles discussing maternal decisions after receiving a prenatal Down syndrome diagnosis.

Following the publication of “Mothers’ Reflections,” researchers and writers have created improved resources for women receiving a prenatal diagnosis of Down syndrome. Since “Mothers’ Reflections,” some US states have passed laws to assist people who received a prenatal screening diagnosis. For example, in 2014, The Pennsylvania Down Syndrome Prenatal Education Act, also referred to as Chloe’s Law, was passed to ensure that the information made available to parents is up-to-date, evidence-based, and reviewed by medical experts and national Down syndrome organizations. Chloe was an eleven-year-old girl with Down syndrome, and her father worked to pass the law because he believed there was little information on the positive aspects of raising a child with Down syndrome.

“Mothers’ Reflections” shows how mothers can navigate the difficult and stressful situation of receiving a prenatal diagnosis and choosing whether or not to continue their pregnancy because of what their prenatal results show. The article also highlights the biases in health care professionals and how those can negatively affect the mothers’ experiences and decision making. The authors recognize the need for continuous improvement among healthcare professionals and the support that they can provide to mothers from the point of diagnosis to birth, as well as being objective in their care. Even after birth, there are difficulties and processes that the parents and child with Down syndrome will have to face. The ten mothers in “Mothers’ Reflections” provided advice for health care professionals and other mothers that can continue to be implemented into practice today.