Look At Me: Why Genetic Test Results Don't Tell the Full Story
I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome while she was pregnant with me. She is adamant she never would have aborted me. But today, pre-natal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that too many are making irreversible decisions without understanding the disorder. Studies around the world have shown parents abort an average of 76 percent of fetuses found to have TS. Like Down syndrome or autism, Turner is a spectrum disorder with symptoms that range in severity, and a diagnosis is no indication of what an individual's life will be. A girl who has it -- like me -- can be happy, intelligent and highly successful. I wasn't diagnosed until I was 4. I was on the short side of average, but my grandmother was 4 feet 10 inches, so that wasn't completely surprising. There was, and still is, nothing visibly wrong with me. I was a pretty normal child who loved singing tunes from the Little Mermaid. But just search for "Turner syndrome" in Google, and you'll find possible symptoms that would make any pregnant woman pause. Infertility. Webbed neck. Kidney failure. Learning disability. "Skeletal abnormalities." TS is a random mutation caused by complete or partial absence of the second sex chromosome. It occurs in approximately 1 of every 2,000 live female births. "At the basic level, the missing genetic material keeps the female body from maturing naturally,&q...
CONCLUSIONS: Radiation therapy continues to be an integral component of the palliative armamentarium against painful metastases. Radiation oncologist, in conjunction with referral physicians, can tailor treatment plans to reflect the needs of a given patient. PMID: 30109789 [PubMed - in process]
CONCLUSIONS: A minority of pregnant women met the recommended GWG. No difference was noted between normal and high-risk pregnancies. High-risk population tended to have a less healthy lifestyle. Counseling to follow a healthy, balanced diet should be recommended, regardless of pregnancy risk, with particular attention to women at high risk of extra weight gain. PMID: 30109788 [PubMed - in process]
CONCLUSIONS: A CNB to confirm mammographic or clinical findings of breast lesions is an accurate method to establish a pathological diagnosis of breast lesions. The accuracy is higher for invasive carcinomas than for non-invasive cancers. Excisional biopsies are necessary for lesions with anticipated sampling errors or when the core needle biopsy findings are discordant with clinical or mammographic findings. PMID: 30109786 [PubMed - in process]
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