Mom's Speech About Her Baby With Down Syndrome Will Take Your Breath Away

A mother’s heartbreaking and honest speech about what it was like to learn her daughter had Down syndrome is captivating the internet. In 2015, comedian Bethany Van Delft teamed up with The Moth, a nonprofit organization dedicated to storytelling, to share her experience of being a mother of a child with Down syndrome. In her nearly 15-minute story, Van Delft discussed her “perfect pregnancy,” her weekly ultrasounds and the expectation of that “rush of love that new mothers talk about.” She then unflinchingly told the audience that she was “terrified” the moment she learned her daughter, born in November 2011, had Down syndrome.  “That first few weeks is just a blur of tears and forms and doctors’ appointments and lists I made of all the things that were never going to happen now and all the things that she would never do,” she said. Van Delft remained heartbreakingly truthful as she told the audience that for months she never saw her daughter as actually being her baby.  “I slept on the couch with her for months with her skin on my skin so she could feel loved, but every time I looked at her all I thought was, ‘Where is my baby? Whose baby is this? When do I get to see my baby?’” she said. Van Delft believed she wasn’t “cut out to be this kind of mother” until she went on vacation with her partner and her daughter at the invitation of a friend. The other peopl...
Source: Healthy Living - The Huffington Post - Category: Consumer Health News Source Type: news

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We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 pre...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31140633 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract The field of prenatal screening and diagnosis has undergone enormous progress over the past four decades. Most of this period has been characterized by gradual improvements in the technical and public health aspects of prenatal screening for Down syndrome. Compared to the direct analysis of fetal cells from amniocentesis or chorionic villus sampling, noninvasive approaches using maternal blood or ultrasound have the great advantage of posing no risk of miscarriage to the pregnancy. Recent advances in molecular genetics and DNA sequencing have revolutionized both the accuracy and the range of noninvasive t...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
A 34-year-old primiparous woman initially was seen at 17+ weeks gestation for a fetal ultrasound scan because of an increased risk for Down syndrome that had been detected via a quad screen. The ultrasound image revealed a normal-appearing fetus coexisting with a molar pregnancy and bilateral 10-cm multicystic ovaries. A genetic amniocentesis revealed normal fetal chromosomes. Her serum human chorionic gonadotropin (hCG) level at diagnosis was 942,000 IU/L. Laboratory values were all normal, except for subclinical hyperthyroidism.
Source: American Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Images in Obstetrics Source Type: research
Each year in the U.S., one in 10 babies is born prematurely. Around the world, that number is slightly higher, affecting 15 million infants annually. In a new study published in Science, researchers led by a group at Stanford University report the first steps toward a blood test that can predict which pregnancies are most likely to result in early births. Stephen Quake, professor of bioengineering and applied physics at Stanford, and his team analyzed the roughly 20,000 genes in the human genome in a group of 38 women who were at higher risk for premature delivery. Of those women, 23 ended up delivering when their babies w...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized healthytime Reproductive Health Source Type: news
Condition:   Pregnancy Intervention:   Other: Questionnaire passation Sponsor:   CHU de Reims Recruiting
Source: - Category: Research Source Type: clinical trials
CONCLUSIONS: One should consider all possibilities before suggesting termination of a very desired pregnancy. This woman had also been advised by other specialists in reproductive endocrinology that conception with her own oocytes (as did occur here) was not possible and she should consider donor oocytes based on her marked diminished oocyte reserve. PMID: 29746018 [PubMed - in process]
Source: Clinical and Experimental Obstetrics and Gynecology - Category: OBGYN Tags: Clin Exp Obstet Gynecol Source Type: research
Abstract In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County. The registry is based on multiple data sour...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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