DNAサイエンスの新型出生前診断(NIPT)
DNAサイエンスの新型出生前診断(NIPT)

1回の簡単なレッスンでNIPTテストをどのように改善したか

NIPT(非侵襲的出生前検査)検査では、妊婦の血液を使用して、胎児の DNA の先天性異常を検出します。 DNA は、ダウン症候群などの遺伝的状態についてスクリーニングされます。 NIPT 検査は状態を診断しません。それらは、条件が存在する可能性がどれくらいあるかをプロバイダーに伝えます。妊娠10週目から検査可能です。
NIPT は、非侵襲的出生前検査の略です。胎児がダウン症候群(21トリソミー)、18トリソミー(エドワーズ症候群)、13トリソミー(パトー症候群)などの染色体異常のリスクがあるかどうかを判断するために、妊娠中に提供されるスクリーニング検査です。この検査では、胎児の性別も判別できます。これは、胎児の DNA の断片を含む血液のサンプルを採取することによって行われます。 DNA はヒトの遺伝子と染色体を構成し、医療従事者が胎児の遺伝子構成を確認できるようにします。血液サンプルが検査室に送られ、特定の先天性欠損症について分析されます。 NIPT は、すべての染色体または遺伝的状態をスクリーニングできるわけではありません。

NIPT テスト画面とは何ですか?

NIPT は、すべての染色体状態または先天異常を検査するわけではありません。 ほとんどの NIPT テストは次のことを示します。

ダウン症(21トリソミー)。
18トリソミー。
13トリソミー。
性染色体 (X および Y) に影響を与える疾患。
過剰な染色体は、ダウン症候群、18 トリソミー、および 13 トリソミーの原因となります。性染色体のスクリーニングは、胎児の性別を予測するのに役立ち、性染色体の通常の数の違いを検出することもできます。 最も一般的な性染色体の状態は、ターナー症候群、クラインフェルター症候群、トリプル X 症候群、および XYY 症候群です。 すべての NIPT パネルが同じ条件を評価するわけではありません。 あなたのNIPTが何をスクリーニングしているかについて、あなたの医療提供者に相談することが重要です.

なぜ非侵襲的な出生前検査が行われるのですか?


非侵襲的な出生前検査は、胎児が特定の染色体異常を持って生まれる可能性を判断するのに役立ちます。医療提供者は、次の場合に推奨する場合があります。

あなたは超音波検査を受け、胎児に異常がある可能性があることを示しました。
潜在的な問題を示す以前のスクリーニング検査を受けました。
米国産科婦人科学会 (ACOG) は、リスクが高いと考えられる妊娠中の個人にのみ NIPT を推奨しました。ただし、リスクに関係なく、プロバイダーはすべての妊娠中の人に NIPT を提供することが現在推奨されています。

NIPT 検査の結果に基づいて、産科医は診断検査を勧める場合があります。診断検査では、胎児に特定の状態があるかどうかについて決定的な答えが得られます。

妊娠中のNIPT検査はいつ行うべきですか?
NIPT検査は、出産後妊娠10週目から行うことができます。通常、妊娠 10 週前の妊婦の血液には、十分な量の胎児 DNA がありません。

NIPT検査はどれくらい正確ですか?


テストの精度は、チェックする条件によって異なります。 多胎妊娠、代理出産、肥満などの他の要因が NIPT の結果に影響を与える可能性があります。

NIPT は、ダウン症の検出において約 99% の精度があります。 この検査は、18 トリソミーと 13 トリソミーを検出するための精度がわずかに劣ります。全体として、NIPT 検査は、クワッド スクリーニングなどの他の出生前スクリーニングよりも偽陽性が少なくなります。

妊娠中に NIPT 検査を受ける必要はありますか?


いいえ、必要ありません。それは個人的な選択であり、質問があるのは普通のことです。担当の医療提供者は、NIPT を含むすべての出生前スクリーニング オプションについて説明します。多くの要因が、NIPT および出生前遺伝子検査を受けるかどうかの決定に影響を与える可能性があります。問題がある場合、またはスクリーニングについて詳しく話したい場合は、遺伝カウンセラーが出生前検査の選択肢とあなたに適したものを理解するのに役立ちます.

医師はNIPT検査をどのように実施しますか?


この検査では、プロバイダーが血液サンプルを採取して、胎児の DNA に異常がないか調べます。あなたのDNAはすべての細胞の中にあります。あなたの細胞は常に分裂し、新しい細胞を作っています。細胞が分解されると、DNA の小さな断片が血流に放出されます。妊娠中は、少量の胎児 DNA が血流を循環します。 NIPT は、無細胞 DNA または cfDNA として知られる、血液中の胎児 DNA の断片を調べます。

プロバイダーは、腕の静脈から血液サンプルを採取します。彼らはこのサンプルをラボに送り、特定の条件について分析します。

十分な量の胎児 DNA が血液中を循環するには、約 10 週間かかることに注意することが重要です。そのため、スクリーニングは妊娠 10 週以降にのみ行われます。

出生前スクリーニングの文脈では、羊水穿刺やトロホブラストなどの診断検査は診断精度が高いですが、妊娠排除のリスクは低いです(1/200から1/400は羊水穿刺の割合で、栄養膜は約1/100です)受信)。

非侵襲的な出生前検査は、染色体異常の出生前診断における最新の開発です。これは、母体の血液が自由な胎児の遺伝物質を循環しているという医学的発見に基づく革新的な検査であり、現在では最も一般的な染色体異常や症候群を分離してスクリーニングすることができます。

この検査は、妊娠10週目から母親の血液を採取するだけで実施され、サンプルを受け取ってから5日以内に結果が送信されます。

プロセスは簡単で、100% 安全で、結果の精度が高いです。


診断チェック
非侵襲的な出生前検査は、広範囲の染色体異常および状態を高感度で検出できます。

トリソミー
21トリソミー(ダウン症候群)  > 99.1%
18トリソミー(エドワード症候群)  > 99.9%
13トリソミー(パトー症候群)  > 91.7%
16トリソミー
22トリソミー

伴性染色体異常 (96.2%)
ターナー症候群 (XO)
クラインフェルター症候群 (XXY)
トリプルエックス
ハイパーサイリックス (XXX) ジェイコブス症候群 (XYY)

胎児性


染色体の欠失または特定の染色体からの遺伝物質の欠如によって引き起こされるさまざまな微視的症候群。
ディジョージ症候群 (22q)
Angelman/Prader-Willi 症候群 (15q)
ヤコブセン症候群 (11q)

ダウン症のNIPT検査が間違っている可能性はありますか?


NIPT はスクリーニング検査であるため、完全ではありません。結果と、より多くの情報を入手する方法について、医療提供者に相談することが重要です。

NIPTテストはそれだけの価値がありますか?
非侵襲的な妊娠スクリーニングまたはその他の出生前遺伝子検査を受けるかどうかは、あなた次第です。医療提供者はあなたの質問に答えることができますが、最終的には、あなたの状況に基づいて、遺伝性疾患または染色体疾患があなたとあなたの家族にどのように影響するかを決定する必要があります.

次の質問は、決定するのに役立ちます。
陽性のスクリーニング結果についてどのように感じますか?

羊水穿刺や CVS などの診断検査を考慮しますか?
胎児に遺伝性疾患がある、または遺伝性疾患のリスクが高いことがわかっている場合、他に何かしますか?
この情報によって、私は悲しくなったり、不安になったり、子供の世話をする準備ができたりしますか?
この情報を知ることは、私のプロバイダーが私の子供により良いケアを提供するのに役立ちますか?
NIPTテストの費用はいくらですか?
NIPT のテスト費用はさまざまです。ほとんどの健康保険会社は、費用のほとんど (すべてではないにしても) をカバーしています。多くは少なくともその一部をカバーしています。念のため、テストの前に保険会社に確認してください。保険に加入していない場合、または保険で NIPT 検査がカバーされていない場合は、検査料金を支払うことができます。

NIPTは14週間でできますか.

はい、NIPT は妊娠 10 週以降であればいつでも行うことができます。

NIPT検査について医師に尋ねるべき質問は何ですか?
非侵襲的な妊娠スクリーニング検査は個人の選択です。結果が何を意味するのか、またはNIPTテストを受ける必要があるかどうかについて質問があるかもしれません.質問することを恐れないでください。あなたにとって何が最善かを決めることができるのは、あなたとあなたの家族だけであることを忘れないでください。
方法の推奨事項

あらゆる年齢のすべての女性に推奨されますが、特に妊娠中の女性に適しています。

35歳以上
リスクが高いと考えられている(頸部検査の異常、Papp-a検査の異常、超音波検査の疑わしい所見、超音波レベル2の染色体マーカー)
染色体異常を伴う妊娠歴のある方
胎児の健康状態を知りたい方
体外受精後

今日、市場検査の可能性と科学機関のガイドラインに基づいて、検査により、胚が染色体異常に罹患している可能性が高いことが示されている場合、遺伝カウンセリングと、栄養膜サンプリングまたは羊水穿刺による結果の確認が必要になります.

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Benefits of Using Artificial or Artificial Quartz


Window sills made of artificial stone
Some faux stone window sills are made from natural stone, cast stone, concrete, tile, or other non-porous materials to further enhance their water resistance. In recent years, faux quartz has become an extremely popular indoor stone option with designers, contractors, and more. Specifically, quartz refers to a variant of engineered stone that is typically composed of approximately 90-97% natural quartz mixed with resin and pigment to create a unique look. There are many different brands of faux quartz on the market, each offering different colors and styles to help you achieve the perfect look. Some of the major brands include Silestone, Caesarstone, Pental Quartz, Alleanza, Polarstone, Cambria and Aurea.
Benefits of engineered or engineered quartz for commercial applications and
Not only Engineered Quartz or Faux Quartz are very popular countertop options for both the kitchen and bathroom. However, they have also become the top choice for university or office dining rooms, commercial spaces, healthcare facilities, office buildings and more - and for a number of good reasons. First, faux quartz is extremely durable and can withstand a lot of different activities. Unlike some natural stones, it will not easily etch when exposed to common household items such as lemon juice, lime juice, vinegar, wine, or other acids.
Faux quartz is very stain resistant, so spilling red wine on a white quartz countertop shouldn't cause stains. Overall, faux quartz is a virtually maintenance-free option that appeals to many contractors, builders, developers, and homeowners who don't want to deal with the maintenance headaches that come with other stone options. It can also be easily cleaned with a rag if dirt and soot get into it.
Countertops made of artificial stone
In addition, faux quartz is highly resistant to scratches, stains, and other surface damage due to its hardness. So it can work in high traffic areas like hallways and kitchens, work well on walls, and can even be used as flooring without etching or damage. While Faux Quartz Countertops are resistant to staining, some customers find that using a special sealant formulated for Faux Quartz helps with daily countertop cleaning and maintenance. In particular, this sealant is useful for artificial stones with a concrete look, sanded finish, or lighter colors.
Since engineered quartz and quartz are man-made, another huge benefit of choosing either is the fact that there are many customization options. You can find faux or faux quartz in just about every color and style imaginable, so it's easy to coordinate with any design and any project.
What else do you need to know?
If you're considering faux quartz or faux quartz for a project that requires a kitchen or bathroom countertop, there's one thing to keep in mind: a potential size limitation. Like any stone, slabs can only be made very large, so if you want to make a particularly large countertop or island surface it may be necessary to join more than one slab together and use a "seam". This seam may be more visible on plain or plain quartz surfaces.
As a rule, engineering plates differ depending on the brand. Most standard slabs are approximately 55-56”x120”. For example, due to demand for large slab counters or islands, manufacturers produce giant slabs in specific colors. Large slabs typically measure approximately 63" x 128". The industry recognizes the need for larger slabs, but there are challenges in producing, shipping, fabricating and installing larger materials. The good news is that if a seam is needed, it can be sealed with a matching color of epoxy for a better look.
Manufacturers also note strong demand for thinner boards. Brands like Silestone now offer 1.2cm thick slabs, making them suitable for wall cladding, backsplashes, showers and any wet areas. Choosing a thinner slab will help reduce cost and simplify the installation process.
It is important to note that engineered quartz is not recommended for outdoor use in New England. Due to exposure to the elements (rain, snow, sun, etc.), the resin in the product degrades over time. If you have a project that requires natural stone for outdoor use, sintered stones such as Dekton or Lapitec are highly recommended. In addition, it is not recommended to use artificial stone around the fireplace lining. High temperatures from a gas or wood burning fireplace can compromise the integrity of the material and lead to breakage.
Outcome
For those looking for a low maintenance natural stone option that won't easily etch, stain or scratch, faux quartz or faux quartz is a great choice. And because both are man-made, any stone option can be found in a wide range of colors and styles to suit any interior stone needs. Learn more about engineered quartz, engineered quartz, and many of our brands' offerings by contacting our team at Connecticut Stone today!




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Top 7 South African Songs You Need To Hear


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South African songs Beneath their beaches, mountains and several distinct ecosystems, South Africa offers a captivating music scene of eclectic local talent. We've picked out 7 acts across a range of different genres and styles that we think you should hear, maybe we'll do a second part of the content in the future, but for now it's just going to take a while to get your fill of South Africa's latest musical offerings. 

South African songs
South African songs Johannesburg-based singer/songwriter Nonku Phiri is the daughter of South African music maestro Ray Phiri. She describes the type of music she produces as a mix of all the influences she grew up on, mainly RnB, kwaito and electro. She made her impressive debut in 2015 with the single "Things We Do On The Weekend". The subtle yet complex layering of sound is characteristic of her and you can find it in every one of her songs.
He is simultaneously working on his EP and first album. She has two singles coming out in the next two months which will be a very good indicator of what to expect from her album.

Latest south African biography
Latest south African biography very own BLK JKS played at the 2010 South African World Cup kick-off at Orlando Stadium alongside Alicia Keys, John Legend and The Black Eyed Peas.
The band, which was formed in 2000, mixes kwaito, ska, reggae, ambient, jazz, prog in its music. Their debut album After Robots was nominated for two South African Music Awards, including Best Album in 2009.
Latets South African pianos
Indie Pop is a common genre in Australia, but not in South Africa, which is full of many electronic or R&B musicians. The Plastics is one of the bands that represents indie pop in South Africa.
The word innovative describes the band because they are constantly trying to come up with new things during their performances. They launched the EP at the mother of all invite-only house parties. For the launch of their double music video at the Mercury Live Lounge, they had beach sandbags brought in to create an island atmosphere inside the club. At Rocking the Daisies in 2009, where they were the headliners, they celebrated this big event for them by having guys dressed as robots cavorting with them on stage.


Latest hip hop songs
December Streets is an indie rock band that was formed at the end of 2009. Living in the middle of a constantly evolving and growing South Africa, the group draws inspiration mostly from the life around them.
After several line-up changes, they achieved national success with their first single My Name and decided to release their re-recorded debut EP. In 2012, December Streets Recorder and released their debut album, This Is, after signing with 2 Feet Music.
Featuring upbeat songs, ear-splitting guitar riffs with rhythmic vocal hooks, they've become famous for their dynamic and addictive indie-pop hits.
Latest south African news
Based in Cape Town, Thor Rixon is a producer, musician and also an actor. He experiments heavily in his live performance, so it's always fresh and different. Rixon uses interesting acoustic instrumentation to capture unheard sounds and soundscapes in his productions and musical compositions.

He has already released 2 albums, Songs From The Baths and Tea Time Favourite, as well as a number of singles.

Latest south African albums
Latest south African albums Yannick Ilunga, known by his stage name Petite Noir, is a South African singer, songwriter and record producer. His debut EP "The King of Anxiety" was released in January 2015 and his debut studio album "La vie est belle / Life Is Beautiful" was released in September of the same year through Domino Records subsidiary Double Six Imprint.
He played guitar until he heard Kanye's electro-influenced album 808s & Heartbreak. He experimented with his sound until he found a more complex sound. The result was a mix of edgy electronics, deep bass, percussion and Afro-blues guitar lines.
PHFAT is an electronic rap duo from Cape Town consisting of Smooth Mike and Disco Israel on vocals. The band is one of the big names on the scene with several years of successful touring, 3 independent records, several top 40 singles in the charts and a hundred shows in South Africa. They've also opened for Public Enemy and The Used (very opposite musical genres, shows how wide their musical scope is). It's a hard-hitting hip-hop track that fuses South African sounds with strong instrumentation.
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lecture

SCA build-up
SCA Specialist Course
Barista Lv.2
Barista Lv.1
barista basics


award

2021 - Golden Coffee Awards
2019 - Tent Coffee Awards
2016 - Golden Coffee Awards
2014 - Golden Coffee Awards