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...
Source: Science - The Huffington Post - Category: Science Source Type: news

Related Links:

ConclusionsOur small-scale experimental study, in which PanoptiqTM was used in the diagnosis of cases that were difficult to diagnose definitively by breast FNA, revealed a positive CB score by every reviewer and the representative diagnosis showed a significant CB. The study suggested that PanoptiqTM could be used for cytopathology consultation.
Source: Journal of the American Society of Cytopathology - Category: Cytology Source Type: research
Authors: Liu B, Yang XF, Liang XP, Wang L, Shao MM, Han WX, Wu YH Abstract OBJECTIVE: To explore the expressions of miR-132 in patients with chronic hepatitis B, posthepatitic cirrhosis and hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), and to investigate its possible mechanism affecting the function of the body. PATIENTS AND METHODS: Among 125 patients with HBV, there were 44 cases of chronic hepatitis, 42 cases of liver cirrhosis and 39 cases of liver cancer. Their liver function and HBV-deoxyribonucleic acid (HBV-DNA) viral load as well as the expressions of micro ribonucleic acid-132 (miR-1...
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
CONCLUSIONS: Our findings provide novel insights into the role of miR-3196 in breast cell proliferation and apoptosis. Meanwhile, this study suggests that miR-3196 can serve as a potential biomarker and therapeutic target for breast cancer. PMID: 30556879 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
CONCLUSIONS: We showed that miR-1179 was a tumor suppressor that may serve as a novel potential prognostic biomarker or molecular therapeutic target for BC. PMID: 30556878 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Authors: Qiu F, Gu WG, Li C, Nie SL, Yu F Abstract OBJECTIVE: This paper aims to investigate the expression level and diagnostic value of miR-19 miR-21 in peripheral blood of patients with undifferentiated lung cancer. PATIENTS AND METHODS: 58 patients with undifferentiated lung cancer hospitalized in the oncology department of The First Affiliated Hospital of Nanchang University from September 2014 to May 2017 were selected as the experimental group, and 42 healthy volunteers in the same period as the control group at the same time. General clinical data in the two groups were collected. The expression levels ...
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Authors: Li XX, Di X, Cong S, Wang Y, Wang K Abstract OBJECTIVE: To evaluate the prognostic role of microRNA let-7 in lung cancer and the relationship between the expression of HMGA2 and clinical significance of lung cancer by meta-analysis. MATERIALS AND METHODS: The studies on the correlation between the low expression of let-7 and the prognosis of lung cancer, and between the expression of HMGA2 and the occurrence and development of NSCLC were identified by searching PubMed, Web of the Science, Medline, Cochrane Library, Google Scholar, CNKI, CBM, and VIP databases. The StataSE12.0 software was used for meta...
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Authors: Jun T, Zheng FS, Ren KM, Zhang HY, Zhao JG, Zhao JZ Abstract OBJECTIVE: Accounting for 25% of all the cancers and 20% of the cancer-related mortality, lung cancer is one of the devastating types of cancers. Due to an increase in the incidence of lung cancer and limited treatment options, there is a pressing need to look for novel drug options and to identify potential therapeutic targets. Long non-coding RNAs (LncRNAs) have been considered to be important therapeutic targets due to their plethora of cellular roles. Herein, we investigated the therapeutic potential of UCA1 in lung cancer and also attempted ...
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
CONCLUSIONS: We found that FENDRR was down-expressed in NSCLC and the over-expression of FENDRR inhibited the malignant phenotypes of NSCLC cell by binding to miR-761 competitively. PMID: 30556873 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
CONCLUSIONS: We discovered the inhibitory effect of miR-490-3p on ESCC by targeting HMGA2, and revealed that miR-490-3p could be a potential therapeutic target for ESCC. PMID: 30556870 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
CONCLUSIONS: We suggested that LINC00675 acted as a tumor suppressor in ESCC via regulation of Wnt/β-catenin signaling pathway and may be a new prognostic biomarker and potential therapeutic target for ESCC intervention. PMID: 30556869 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
More News: Autism | Biology | Boston University | Cancer | Cancer & Oncology | Cardiology | Children | Disability | Down's Syndrome | Education | Genetics | Girls | Heart | Hormones | Hospitals | Infertility | Learning | Ovarian Cancer | Ovaries | Pregnancy | Reproduction Medicine | Respiratory Medicine | Rural Health | Science | Sports Medicine | Students | Study | Teaching | Turner Syndrome | Universities & Medical Training | Urology & Nephrology | Websites | Women