By Kyla-Jayne Rajah
Bronwen Leary is a special kind of Mum. She is the parent who would rather be a stay-at-home mum than send her child to just any childcare centre. Lucky for first son, Ryan, she loved Altona North Children’s Centre, believing it far surpassed some of the other ten centres she visited. In fact, this centre has been a boon for her family, but since the management will soon be outsourced, she has begun to worry the quality of care for her children might be reduced.
When Bronwen was 13 weeks pregnant with her second child, Sarah, she was advised she fell into the high risk category of having a baby with Down Syndrome. The family decided to forego further tests knowing they would continue the pregnancy regardless. However, concerns began to emerge at the 20weeks gestation ultrasound that the unborn baby could have a hole in its heart. The family were referred to a cardiologist and paediatrician for further investigation, but no obvious signs of Down Syndrome, or a hole, were confirmed. The family knew such advice held no guarantee, yet still were surprised to discover 6 weeks after Sarah’s birth she had a Complete Atrioventricular Septal Defect – a condition that requires surgical repair to the heart.
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She didn’t know when they’d be scheduled for Sarah’s heart repair, as this depended on the strength of the baby and the priority of emergencies at the Royal Children’s Hospital, but incredibly, her concerns were alleviated by the coordinator and her team. “They always found a place for Ryan,” she recalls, “to the point where the coordinator emailed parents to ask if they could notify her if their child was not attending that
In the scenario regarding making the decision on aborting the child with Down Syndrome is really tough decision to take especially in Susan’s case since she was facing pregnancy difficulties
On today’s evaluation, she is 19 weeks and the fetal measurements overall are concordant. The long bone measurements are within one week of her dates. The amniotic fluid volume is normal, and the cervix is long and closed. A complete fetal anatomical survey was performed and a significant amount of ventriculomegaly/hydrocephalous was identified but no other major malformations were noted at this time, though due to the
Ann mother went through a problematic pregnancy with her because she had oligohydramnios, which is Low amniotic fluid. Her mother wasn’t developing enough fluids. She was informed by doctors that Ann might have some major disability problems, such as down- syndrome. She had to keep going to different doctors for checkups. When it was time for deliver, Ann mother had
We discussed the findings of today’s scan and the potential implications. I explained to them that neurologic abnormalities are a very difficult counseling sessions because it is impossible to determine outcomes. Even mildly dilated ventricles with no other associated findings can have significant delay. We discussed longterm consequences of both agenesis as well as Dandy-Walker given the findings on the ultrasound. We discussed their wishes in terms of continuation of pregnancy and to give us more information I opted to order a fetal MRI. This would likely be able to help us to determine the findings in the third and fourth ventricles and possibly even agenesis of the corpus callosum. We discussed the possibility of invasive testing with amniocentesis but they had previously done preimplantation genetic diagnosis and did not desire any further testing at this time. Finally, I spoke with Krystal about the implications of non-continuation of pregnancy and how the procedure is typically performed using laminaria in a 2-day process. For now, we will proceed with ordering the MRI and we will see her back in 4 weeks if she continues the pregnancy; otherwise, we will give her information for
By dates, she is 24 5/7 weeks and the measurements are concordant. The amniotic fluid volume is normal. A repeat fetal anatomy was performed and further views of the face and diaphragm were seen. Again, due to fetal position and maternal body habitus the fetal heart was not cleared.
Introduction Before My Heart Stops is the memoir of Paul Cardall, who was born with a congenital heart defect. This book is about his life, faith, disappointments, sorrow, heart transplant, and the new chance of life. Cardall was born with a double inlet left ventricle (DILV) defect and within 24 hours, he had his first heart surgery. His parents were given the unsettling news that their infant son had a short life expectancy. Cardall, at the age of 36 was the longest living person with a congenital heart defect/disease in the state of Utah to survive and become a recipient of a new heart (Cardall, 2010).
Do you have a family member with Down syndrome? Neither did Esther Gomez-Nieto, until 15 years ago when her grandson Alexander was born. In fact, she knew very little about Down syndrome at all. Years ago when Esther emigrated from Cuba, she had no idea the eventual path her life would take. She got married, had kids, then returned to school later in life, and became an educator and a grandmother. However, her most significant contribution to the world began when she founded Alexander’s Angels, Inc. in 2007, an organization for Down syndrome advocacy, service, and research.
Fetal echocardiography is indicated in high risk pregnancies where the chances of fetus having a congenital heart disease (CHD) are likely to be high - for exapmle, in a fetus with extracardiac anomalies picked up on obstetric ultrasound, those with a history of CHD in family, maternal diabetes and maternal connective tissue disorder (Srinivasan,2000). Congenital heart defects are abnormalities in the heart's structure that are present at birth. They are the most common congenital malformations with a reported incidence of 8 to 10 per 1000 live births, and about a third of these CHDs are severe (fatal or requiring an intervention in the first year of life) (Dolk and Loane, 2009; Hoffman and Kaplan, 2002; Vaartjes et al., 2007) . CHDs happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy.
3) Do you agree with what was done in the case regarding the problem? Why or why not?
Mary is a 28yo, G1 P0, who was seen for a follow-up ultrasound assessment for fetal viability. As you know, her pregnancy is complicated by a fetus with multiple anomalies including heterotaxy, an AVSD, fibroelastosis of the ventricle musculature, complete heart block, and hydrops. On today’s evaluation overall, the patient has no obstetrical complaints and still does have positive fetal movement. On arrival her BP was 134/90 and her urine was trace protein. Recheck of her BP about 5 minutes later was 130/88. She has gained 5 lb in the past 2 weeks but denies headaches, blurred vision, or any signs of preeclampsia. We did obtain lab work today and will forward these to your office upon return.
In this assignment, I hope to receive a deeper understanding about Down syndrome and to understand that people with Down syndrome are people with abilities, strengths and weaknesses like everyone else. Firstly I will gather information from texts, internet, voluntary and statutory organisation involved in providing care for this client group. Throughout this assignment, I aim to examine a range of specific client groups to include children, adolescents, adults and older people and those with special needs. I will discuss the care in the community, the needs of the individuals with Down syndrome to include their physical, emotional, social and intellectual needs and identify how those needs are provided. I will also summarise the role of care
Syndrome. Approximately half of all infants born with Down’s syndrome have a heart defect. Many of these defects have serious implications”
Critical Congenital Heart Defects are abnormalities of the heart structure that are present at birth. These occur because of incomplete or abnormal development of the fetus’ heart. These defects can cause severe mortality within the newborn stage (Goldstein, 2013, p.1). Several are known to be linked to genetic disorders such as Down syndrome and others are thought to be linked to environmental factors that women can be exposed to while pregnant. The cause of most CCHD’s is unknown.
The aim of this paper is to show the need for services and education for both the public and parents of children with Down syndrome to assist in the transitioning into independent adult living.
Did you know that heart abnormalities are the most common birth defect? I didn't, until a few weeks ago. A Facebook friend posted a link to the Cora's Story blog and I casually clicked over to see what it was about. Cora died suddenly in her mama's arms at just 5 days old from an undetected congenital heart defect (CHD). I can't imagine suffering such a devastating loss, and I thank my lucky stars for my kids' healthy hearts. But Cora's mother Kristine has turned her pain into a wonderful mission in her daughter's name: to raise awareness about CHD and how easily it can be detected. With Kristine and Cora's help, hopefully more CHDs will be caught and treated early, saving babies' and children's lives.