助産師を呼ぶ前に

Laurie H Glimcher¹, Gregory A Petsko²

¹Dana-Farber Cancer Institute and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.

Cell

|September 29, 2022

まとめ

ユク・ミング・デニス・ロは,母親の血中の胎児DNAを発見したことで2022年のラスカー賞を受賞した. この突破によりダウンの症候群などの非侵襲的な産前検査が可能になりました

科学分野:

遺伝学
分子生物学
臨床医学

背景:

産前診断は伝統的に侵襲的な手順を伴うものです
細胞フリーな胎児DNA (cfDNA) の存在は,潜在的に非侵襲的な代替手段を提供した.
初期の研究は胎児の遺伝物質を母親の血流内で特定することに焦点を当てました

研究の目的:

胎児の遺伝物質を母親の血液で検出する可能性を調査する.
産前遺伝子スクリーニングの非侵襲的な方法を開発する
ダウンの症候群などの染色体異常の早期発見を可能にする.

主な方法:

細胞のない胎児のDNAを母の血から分離して分析した.
特定の胎児のDNA配列と染色体アヌプロイドを検出するための敏感なアッセイを開発した.
伝統的な診断技術に対して非侵襲的産前検査 (NIPT) 方法を検証した.

主要な成果:

胎児のDNAが母親の血中に循環していることが確認され特徴づけられました
ダウンの症候群や他の三症候群の検出における非侵襲性産前検査の高精度を示した.
NIPTの臨床的有用性を確立した.

結論:

胎児のDNAの発見は胎児診断に革命をもたらしました
非侵襲的産前検査は侵襲的処置の安全で効果的な代替手段です
この進歩は胎児の遺伝的疾患の検出を大幅に改善し母親と子供の健康を向上させました

さらに関連する動画

11:59

In Vivo Real-Time Study of Drug Effects on Carotid Blood Flow in the Ovine Fetus

Published on: April 28, 2023

367

05:40

Continuous Telemetric In Utero Tracheal Pressure Measurements in Fetal Lambs

Published on: December 22, 2023

353

関連する概念動画

01:22

The Professional Nurse

4.3K

Professional nurses are not limited to bedside care and are taking roles of greater responsibility. A nurse should have a knowledge-based practice, including personal, theoretical, procedural, cultural, and reflexive knowledge. Additionally, nurses must be competent in cognitive, technical, interpersonal, and ethical/legal skills. Some of the best attributes of successful nurses include the following:
Communication skills: These are critical characteristics, especially speaking and listening.

4.3K

01:16

Nurses' Legal Responsibilities III

729

Nurse-to-nurse relationships are legally required to adhere to professional standards, ensuring a respectful and positive working environment. Professional conduct demands that nurses treat all colleagues respectfully and courteously, fostering a productive, supportive workplace. Nurses must actively eliminate bullying, discrimination, and harassment to maintain a safe and inclusive environment.
Cultivating a culture of collaboration and mutual respect among nurses transcends mere enhancement...

729

01:23

Nurses' Legal Responsibilities II

791

Establishing a secure, collaborative nurse-patient relationship is crucial for delivering high-quality care. This relationship, founded on trust, respect, and honesty, enhances the patient's comfort and willingness to share vital health information. For example, a nurse who listens actively and without judgment provides clear information about health conditions and treatment options and respects patient decisions, which builds a trusting relationship.
Communication between nurses and...

791

01:27

Nurses' Legal Responsibilities I

821

In healthcare, informed consent is a crucial process that involves thoroughly communicating medical treatment options to patients, including benefits, risks, potential side effects, and alternatives. This process enables patients to make well-informed decisions about their care, ensuring they understand the implications of their choices before consenting to or refusing treatment.
The legal responsibilities of a nurse regarding informed consent include the following:

821

01:26

Endoscopic Studies II: Thoracocentesis

453

Thoracentesis(Thoracocentesis), commonly known as pleural tap, is a medical procedure where a 22 gauge needle is inserted into the pleural space, the area between the lung and chest wall. This procedure is commonly performed to diagnose or treat various respiratory disorders.
Description
Excess pleural fluid or air may accumulate in some respiratory disorders in the thoracic cavity. To treat pleural effusion, a physician conducts thoracentesis by carefully piercing the chest wall and entering...

453

01:28

Menopause

235

Menopause, a natural biological process marking the end of a woman's fertility, typically occurs between the fifth and sixth decade of life. This phase is characterized by the exhaustion of the ovarian follicle pool, leading to less responsive ovaries despite the high levels of Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH). The consequential decrease in estrogen production results in symptoms like hot flashes, heavy sweating, headaches, hair loss, muscle pains, vaginal...

235

関連する実験動画