Postnatal Diagnosis Of Down Syndrome Research Articles

Down syndrome: Parental experiences of a postnatal diagnosis.

Globally it is estimated that Down syndrome occurs in 1 in 800 live births (Bull 2020). It has also been estimated that the incidence of Down syndrome occurs in 1/444 live births in the Republic of Ireland. Given the prevalence of Down syndrome births in Ireland and the fact that care is provided by the majority of parents at home, this qualitative study aimed to explore the experiences of Irish parents receiving a postnatal diagnosis of Down syndrome. A qualitative research approach was used through semi structured interviews. Eight parents of a baby diagnosed postnatally with Down syndrome participated in this study sharing their stories of their postnatal diagnosis experiences. Five overarching themes emerged using a descriptive thematic analysis; 1. prenatal screening, pregnancy and delivery; 2. how the diagnosis was delivered; 3. setting and emotional experiences; 4. moving on with the postnatal diagnosis and 5. Future recommendations from parents' perspectives. This study highlighted the importance of the need for clinicians to ensure that partners are present at the time of the disclosure, that ample time is allocated and that verbal and written communications are provided to parents using less medical jargon when delivering the postnatal diagnosis of Down syndrome. These reasonable adjustments could alleviate parental anxiety at this critical juncture in their lives. Online resources and support forums were also identified as an integral support for families on discharge from the maternity centres and in the early months and years.

Teaching medical students how to deliver diagnoses of Down syndrome: Utility of an educational tool

ObjectiveThis study assessed whether using an educational tool increased the knowledge and perceived comfort level of first-year medical students in giving a diagnosis of Down syndrome. MethodA total of 295 students taking a genetics course completed a knowledge questionnaire and Situations Inventory (aimed at assessing comfort with sharing certain information), prior to and following use of Brighter Tomorrows, a web-based educational module on giving parents a diagnosis of Down syndrome. ResultsThe pre-intervention mean on the knowledge survey was 3.67, which significantly increased to 5.47 following the intervention. Mean Situational Inventory scores were significantly higher pre-intervention (M = 45.5), which indicates greater discomfort, compared to post-intervention (M = 36.7). Qualitative analysis of responses regarding lessons learned fell into 5 major themes. The most common theme (48% of responses) was related to communication skills. The most frequently cited lesson learned was the importance of demonstrating empathy. ConclusionsThis study found that knowledge and perceived comfort levels of first-year medical students in giving a postnatal diagnosis of Down syndrome were significantly increased following use of an educational tool. Practice ImplicationsEducational modules can provide medical students with foundational knowledge on providing distressing information to help prepare for future clinical encounters.

Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.

The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital. Key demographic findings include mean maternal age of 37 years, among the highest described in the literature. Sixty-two percent of mothers are >35 years. Over 90% of mothers received post-natal diagnosis of Down syndrome. High sex ratio, parental consanguinity, and large family size also characterize the group. The spectrum of many co-occurring conditions mirrors that of previously described populations, with some notable differences. Cardiovascular malformations are well represented, however, atrioventricular canal is not the most common. Genitourinary conditions are common, as evidenced by 12% of males with hypospadias and 15% with undescended testes. Glucose-6-phosphate dehydrogenase deficiency, alpha thalassemia trait, hypovitaminosis D, and dental caries are common in our cohort. This study describes a large hospital-based group with Down syndrome presenting to a new dedicated Down syndrome clinic in the UAE, highlighting unique demographic and co-occurring conditions found in that population.

Beyond the Genetic Diagnosis: Providing Parents What They Want to Know.

Clinicians need to provide accurate, up-to-date, and balanced information to parents following a prenatal or postnatal diagnosis of Down syndrome and other genetic conditions. Families want information about the genomic outcomes and medical issues, but they also want information about life outcomes and social supports. Because the anticipated outcomes of a condition can change significantly based on available social support, health care, and services, it is important for clinicians to stay up-to-date about new developments and credible, medically reviewed information about Down syndrome and other genetic conditions to access resources for clinical care.

Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors

Down syndrome is one of the most common conditions encountered in the genetics clinic. Due to improvements in healthcare, educational opportunities, and community inclusion over the past 30years, the life expectancy and quality of life for individuals with Down syndrome have significantly improved. As prenatal screening and diagnostic techniques have become more enhanced and widely available, genetic counselors can expect to frequently provide information and support following a new diagnosis of Down syndrome. This guideline was written for genetic counselors and other healthcare providers regarding the communication of a diagnosis of Down syndrome to ensure that families are consistently given up-to-date and balanced information about the condition, delivered in a supportive and respectful manner.

Postnatal Diagnosis of Down Syndrome: Synthesis of the Evidence on How Best to Deliver the News

Many parents of children with Down syndrome (DS) have expressed dissatisfaction with how they learned about their child's diagnosis. DS remains the most common chromosomal condition, occurring in 1 of every 733 births, with the majority of children still diagnosed postnatally. Our goal was to review systematically all available evidence regarding how physicians should approach the conversation in which they explain DS for the first time to new parents. We searched online databases from 1960 to 2008, including Medline and PsychInfo, as well as Web sites maintained by academic organizations (eg, American Academy of Pediatrics) and other nonprofit or private organizations (eg, the National Down Syndrome Society), by using the terms "Down syndrome," "trisomy 21," "mongolism," "prenatal diagnosis," "postnatal care," and "delivery of health care." Articles were selected that answered > or =1 research question, established a priori: (1) Who is the best person to communicate the news? (2) When is the best time to share the news? (3) Where is the best place or setting to deliver the news? (4) What information should be delivered? and (5) How should the news be communicated? All studies were evaluated for quality according to the method outlined by the US Preventative Services Task Force. Final recommendations were based on the strength of evidence. Parents prefer to receive the diagnosis together in a joint meeting with their obstetrician and pediatrician. The conversation should take place in a private setting as soon as a physician suspects a diagnosis of DS. Accurate and up-to-date information should be conveyed, including information about local support groups and resources. By implementing a few cost-neutral measures, physicians can deliver a postnatal diagnosis of DS in a manner that will be deemed by new parents as sensitive and appropriate.

Improving residents' understanding of issues, comfort levels, and patient needs regarding screening for and diagnosing Down syndrome

This study assessed obstetrics and gynecology and pediatrics residents' knowledge about Down syndrome (DS) and their comfort in delivering a prenatal or postnatal diagnosis of DS before and after interaction with a web-based tutorial. A team of physicians, parents, and educational specialists developed an interactive tutorial that asked resident physicians to provide their own responses to "virtual patient" cases related to DS diagnoses in utero and at birth. We tested resident knowledge and comfort-level changes and their satisfaction with the web-based tool. The study yielded significant improvement in knowledge and level of comfort changes with both obstetrics and gynecology and pediatric resident physicians at 16 programs nationally. There were no significant differences between the 2 specialties. This interactive tutorial is effective in improving physicians' knowledge of and comfort level with imparting accurate, balanced information about DS pre- and postnatally.

Resident Physiciansʼ Competencies and Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome

This study responded to the need expressed by physicians and parents alike for improved medical information and support to families upon the initial diagnosis of Down syndrome at birth. The purpose was to assess obstetrics and gynecology and pediatrics residents' cognitive knowledge about Down syndrome and comfort in counseling parents with a newborn child with Down syndrome before and after intervention (resident viewing and interaction with the educational material). A team of physicians, parents, and educational specialists developed an interactive CD-ROM that asked resident physicians to read and view virtual patient-doctor sessions, and provide their own responses to critical situations related to Down syndrome diagnoses. The research tested both knowledge and attitude change, as well as the effectiveness of an interactive CD-ROM as a pedagogical tool. Our effectiveness study yielded positive and significant improvement in knowledge and level of comfort changes with both obstetrics and gynecology and pediatric physicians in residence at the University of Kentucky. Residents also found the technologically based interactive type of instruction to be usable and valuable. Teaching physicians to impart accurate and balanced information about Down syndrome at the initial point of diagnosis can be achieved, in part, through training with the CD-ROM. From a broader perspective, this effectiveness study suggests the potential applications of these communication strategies not only to families who have a child with Down syndrome, but also to those with other life-altering disabilities. II-3.

Breaking difficult news in a newborn setting: Down syndrome as a paradigm

Breaking the difficult news of an unexpected diagnosis to parents in the newborn setting is a common occurrence in genetic counseling. Many clinical geneticists and genetic counselors have had the challenge of delivering a postnatal diagnosis of Down syndrome to parents of newborns. Down syndrome is a common chromosome condition occurring in approximately 1 in 800 live births. Presenting the diagnosis to families must be accomplished in a supportive, positive, caring, and honest manner. However, there are few scientific data and little instruction in training programs on how best to convey this news in an appropriate manner. Several articles in the literature over the last three decades have proposed various guidelines for the so-called informing interview. Discussions of parents' preferences and experiences in receiving this news have also been documented. Few reports, however, have focused on breaking difficult news of the diagnosis of a genetic condition to parents in a newborn setting in the genetics literature. In this paper, we will review the medical literature on delivering difficult news, specifically focused on that regarding the diagnosis of Down syndrome in the newborn setting. We propose a theoretical framework from which the informing interview can be planned and future outcome data can be measured. In this way, researchers of this theme can investigate the process, including the healthcare professionals' delivery of difficult news and make recommendations for continued improvement of the process. Our model can be generalized to breaking difficult news for a variety of other congenital conditions.

Postnatal Support for Mothers of Children With Down Syndrome

Delivering and receiving a postnatal diagnosis of Down syndrome is not an easy experience for most physicians or parents. In this study, 467 mothers of children with Down syndrome in Spain completed a survey about the postnatal support services they received immediately following the diagnosis of their child. Mothers reported feeling anxious, frightened, guilty, angry, and, in rare cases, suicidal. According to most mothers, physicians did not give adequate amounts of information about Down syndrome and rarely did they give enough printed materials or make referrals to parent support groups. Little seems to have changed since 1972. Mothers provided recommendations on how the Spanish medical system could be improved, with implications for other countries including the United States.

Mothers of Children With Down Syndrome Reflect on Their Postnatal Support

Since 1964, researchers have been examining the ways in which physicians deliver a postnatal diagnosis of Down syndrome (DS). Almost all of the studies, however, have been limited to reflections or very small sample sizes. The objective of this study was to document, in the most robust comprehensive way, the reflections of mothers in the United States who received diagnoses of DS for their children. An 11-page survey was mailed to 2945 persons on the membership lists of 5 DS parent organizations. The survey gathered both quantitative and qualitative data with yes/no questions, open-ended questions, and a series of statements asking the mothers to rate their level of agreement on a Likert scale of 1 to 7. Of the 1250 responses (42.4%), 985 were from mothers who received postnatal diagnoses of DS for their children. The majority of these mothers reported being frightened or anxious after learning the diagnosis, and very few rated the overall experience as a positive one. Mothers reported that their physicians talked little about the positive aspects of DS and rarely provided enough up-to-date printed materials or telephone numbers of other parents with children with DS. Improvement has been made with time, albeit slowly. Mothers have called on physicians to improve the way in which postnatal diagnoses are delivered. Specific recommendations are offered.

Age at Postnatal Diagnosis of Down Syndrome in the Northern Netherlands for the Period 1981–2000

Background: In live-born children with Down syndrome it may be very difficult for the clinician or midwife assisting at the delivery to recognise Down syndrome in newborn babies due to varying physical appearances. Meanwhile more and more therapeutical interventions become available that should start early in life. We were interested in the age at the postnatal diagnosis of Down syndrome, and found no literature on the subject. Methods: We studied the age at the diagnosis of Down syndrome for live-born babies born in the period of 1981–2000 and registered by the European Registration of Congenital Anomalies in the northern part of The Netherlands. Results: For 289 children, data on the age at the postnatal diagnosis were available, in 70.8% of whom there was suspicion of DS on the day of birth. In 1.7% of the cases, the diagnosis was made after 1 year. Place of birth and the specialty of the health worker assisting at the delivery were associated with age at diagnosis. When the child was delivered at hospital, 96.4% of the Down syndrome cases had been diagnosed within 1 month compared to 81.3% following home delivery. Conclusion: In some cases of Down syndrome in live-born babies, the diagnosis is made only after months or a year. The diagnosis was made faster in babies born in hospital compared to those born at home.

Estudio de incidencia de trisomía 21 en Gran Canaria

ObjectivesTo determine the incidence of trisomy 21 in our population and the prenatal detection rate of maternal age as the screening method. Material and methodsWe performed an observational, longitudinal, retrospective study from January 1st 1995 to December 31st 2002. ResultsThe overall incidence of trisomy 21 in our population was 2.09/1000 newborns. One of every three cases of trisomy 21 was detected in women aged less than 35 years. Maternal age as a screening test had a detection rate for trisomy 21 of 45.66%. Postnatal diagnosis of Down syndrome was made mainly in women aged less than 35 years (58.18%). Of these, only 13.51% of had a prenatal diagnosis of trisomy 21. ConclusionsScreening for trisomy 21 is insufficient in our population. A sequential screening program, based on maternal age, nuchal translucency and maternal serum biochemical tests between weeks 11 and 14, should be performed.