The Decision to Continue a Pregnancy Affected by Down Syndrome: Timing of Decision and Satisfaction with Receiving a Prenatal Diagnosis

In order to provide the best genetic counseling possible for women who learn of a diagnosis of Down syndrome prenatally, we sought to assess the timing of the decision to continue a pregnancy and the satisfaction these women had with learning this information. Fifty-six mothers of children with Down syndrome diagnosed prenatally between 2007 and 2010 completed a survey regarding their experience with decision-making after prenatal diagnosis. Approximately one third (17/56) of participants reported they knew before getting pregnant that they would not terminate for any reason, and almost half of the participants (24/56) reported they did not decide to continue their pregnancy until after the diagnosis. Many participants (82 %; 42/56) stated that learning the diagnosis during pregnancy increased their anxiety. The majority (88 %; 45/56) also reported that if they could do it over again, they would undergo prenatal testing for preparation purposes, despite increased anxiety. Religious and spiritual beliefs as well as feeling attached to the baby were the personal factors that had the greatest impact on most women’s decision-making. Despite increased anxiety caused by learning the diagnosis prenatally, most women favored prenatal diagnosis as it allowed them time to process the information and prepare for the birth of their child.     

Experiences of Prenatal Diagnosis of Spina Bifida or Hydrocephalus in Parents Who Decide to Continue with Their Pregnancy

The current study aimed to gain an understanding of the perspectives of those parents provided with a prenatal diagnosis of spina bifida or hydrocephalus and who decided to continue with their pregnancy. Qualitative interviews were conducted with 15 parents who learned of their unborn child’s spina bifida and/or hydrocephalus in the prenatal period. The interviewer asked parents about their experiences of receiving a prenatal diagnosis and their experience of coping throughout the remainder of the antenatal period. Parents’ reactions and experiences fell into five domains: response to diagnosis, experience of medical systems, information gathering, decision-making regarding continuation of the pregnancy following diagnosis and responses of significant others. Each of these domains is explicated. The findings derived from the current study have implications for professionals who provide support to parents during the prenatal period. Future research needs to further explore the common and unique issues for parents living in both urban and rural areas.     

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 30?years, 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.     

At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy. This paper provides basic management and genetic evaluation principles for affected women, as well as guidance on identifying those who are at risk. We provide considerations for cardiac surveillance in pregnancy and the post-partum period. Finally, key psychosocial issues that appraise how to best provide support to at risk women as they make informed decisions are discussed. We propose that a team approach including cardiology, maternal fetal medicine, and genetic counseling best serves this patient population. Ongoing questions addressing an evidence based approach to cardiovascular genetic conditions in pregnancy still remain. Thus, well-designed research protocols are essential to mark progress in this area.     

13-18岁青少年表象能力的发展和脑电α波的关系

本研究以188名1318岁青少年为研究对象,采用脑电波超慢涨落分析技术(简称ET),对其12导联脑电波(EEG)进行了记录和分析,并对其表象能力进行了考察。重点探讨了表象能力的发展与脑α波特点之间的关系。结果表明:(1)13～18岁青少年随年龄增长,对表象任务正确反应需要的时间逐渐下降,其反应时变化的转折时期为16岁;(2)男女生之间差异不显著;(3)在句图匹配和心理旋转作业中好组10Hzα波的比率均高于差组,其它频率差异不显著,说明表象能力好组与占主频的α波相联系。