Просмотр полной версии : Трисомия 21

:confused: Доктор на 15 неделе предложил мне сделать трисомию 21. Никаких патологий в семье ни у мужа, ни у меня не было. Хотя бывают ведь случайные хромосомные отклонения. Никак не могу решить, делать или нет? Бывают ли ошибки при исследовании? И насколько возможен аборт на таком сроке в случае выявления хромосомных отклонений?
Спасибо всем заранее

Дорогая Кошка,

А какое исследование предлагают сделать?

Есть тест крови который безопасен для ребенка, но он только помещает Вас в группу риска, не дает 100% уверенности. В США в некоторых штатах этот тест обязателен.

Есть также amniosynthesis, когда врач вводит иглу и берет образец вод вокруг ребенка. Этот тест дает 100% уверенность в отсутсвии/присутствии синдрома Дауна, но также имеет 0.5% шанс выкидыша здорового ребенка. Если Вы бы сделали аборт зная наверняка что у ребенка есть гинетическое заболевание, то этот тест имеет смысл. Если будете носить независимо от результата, то на мой взгляд на такой тест причины нет.

Удачи,

ant_fugue

:confused: Никаких патологий в семье ни у мужа, ни у меня не было. Хотя бывают ведь случайные хромосомные отклонения.

От возраста еще зависит вероятность синдрома Дауна. Если вам 20 лет - то можно особо не беспокоиться, если 40 - думаю, стоит побеспокоиться.

Na 15 nedele kak pravilo delayut triple screen - analys krovi materi na trisomiyu po 21 i 18 chromosome a takzhe na defekti nervnoi trubki. Etot test yavlyaetsya obyazatel'nim komponentom for routing prenatal care in the USA.

Sensitrivity of the test is about 70%. Esli test "polozhitel'nii" to mozhno provesti detal'nii ultrasvuk ili amniocentes.

Risk syndroma Downa konechno rastet s vosrastom, osobenno posle 35 let. Odnako kak ne paradoksal'no bol'shinstvo detei s Sindromom Downa v USA rozhdayetsya u molodih materei, potomu chto chuvstvitel'nost testa dlya nih nizhe, da i nastorozhennost' vrachei tozhe nizhe.

Bol'shinstvo sluzhayev syndroma Downa - eto oshibka pri formirovanii yazekletki, tak chto otsutsyviye syndrome v semye nizhego ne garantiryet.

Triple screen - eto prostoi i besopasnii test, ya bi recomendovala ego sdelat'.
Mozhno ego provesti s 15 do 21 nedeli beremennosti.

Dear Elena,

You are 100% correct, of course.

When I was writing the answer, I wanted to state very general ideas without making assumptions. For example, I have previously encountered a woman whose doctors wanted to go directly to cordosynthesis (not amnio, CORDO) based on tenuous ultrasound results without discussing the risks and the benefits of the procedure or the findings of the ultrasound with the patient. Specifically, her placenta was a little thicker than the Russian norm while the baby's nuchal thickness was fine, and there were no indirect findings suggesting Down syndrome.

Since the specific analysis offered was not confirmed in this question, I was concerned about the possibility of her being offered amnio without the benefit of the triple test. So I made my reply general enough so that the mother could ask follow-up questions. However, since she did not return, of course my answer looks unsatisfactory to whoever might be using this forum as a read-only resource. Thanks for adding the info. :-)

Sincerely,

ant_fugue

I know what you are saying.

I just wanted to bee a little bit more specific and tryed to quess what the patient means. I thought that CVS is usually done at 8-9 weeks, and amniocentesis after 15 weeks, usually starting at 16 wks. Early amnio, at 14-15 wks, has a high risk of limb reduction in the fetus. Some centers also do nuchal thickness in 1st trimester and quadriple screeen (estriol, b-hCG, AFP + PAP-a), it is about 80% sensitive. There are very few indications for direct cordocentesis. I actually don't remember ever doing it except for intrauterine transfusions.

So after all I decided we must be talking about triple screen.

Yours, Elena.

Dear Elena,

You are 100% correct, of course.

When I was writing the answer, I wanted to state very general ideas without making assumptions. For example, I have previously encountered a woman whose doctors wanted to go directly to cordosynthesis (not amnio, CORDO) based on tenuous ultrasound results without discussing the risks and the benefits of the procedure or the findings of the ultrasound with the patient. Specifically, her placenta was a little thicker than the Russian norm while the baby's nuchal thickness was fine, and there were no indirect findings suggesting Down syndrome.

Since the specific analysis offered was not confirmed in this question, I was concerned about the possibility of her being offered amnio without the benefit of the triple test. So I made my reply general enough so that the mother could ask follow-up questions. However, since she did not return, of course my answer looks unsatisfactory to whoever might be using this forum as a read-only resource. Thanks for adding the info. :-)

Sincerely,

ant_fugue

I think you were most likely correct in giving a more specific answer. I was just probably being paranoid.

It's nice to meet you! I am not a doctor, but a Ph.D. student in biochemistry who is also in the process of getting a DONA doula certification. My name is Katya, and I am attending my first 2 births in September.

BTW, it seems that there is a genetic counceling center in Moscow that recommends cordosynthesis instead of amniosynthesis in the same timeframe for Down syndrome testing for mysterious reasons. They tell moms that it's more accurate. I don't know what to think given the comparative rate of fetal loss for both procedures.

Best wishes,

Katya :)

Good luck with you visit to Labor and Delivery unit!
It is amazing you want to be a Dula being a PhD student. Hope you enjoy it.
I don't know of any reasons to offer cordocentesis instead of amniocentesis. The procedure itself is definitely more risky. Amniocentesis is very accurate, if time matters FISH for aneuploidy can be done, it takes about 48 hours.

Thank you for your kind words!

I think my interests really changed after having my daughter. Ultimately, I now wish to be a certified nurse-midwife, but that's several years away...

Zdravstvuite uvazaemie uchastniki foruma
nabludayia za vashei interesnoi perepiskoi otnositelno DS
chochetsa zadat vopros Elene
A ispolzuete li vi PGD ?

kstati chochetsa obnadezit Khoshku -statisticheskaya veroiyatnost povtornogo sluchaya DS menee 1 percent

Сильвер, используйте опцию транслит. Вот же она кнопочка - под окном быстрого ответа. Разбирать Ваши письмена очень тяжело.

СПАСИБО ЗА СОВЕТ
НУ А PGD ВЫ ИСПОЛЬЗУЕТЕ ?

Dear Elena,

You are 100% correct, of course.

When I was writing the answer, I wanted to state very general ideas without making assumptions. For example, I have previously encountered a woman whose doctors wanted to go directly to cordosynthesis (not amnio, CORDO) based on tenuous ultrasound results without discussing the risks and the benefits of the procedure or the findings of the ultrasound with the patient. Specifically, her placenta was a little thicker than the Russian norm while the baby's nuchal thickness was fine, and there were no indirect findings suggesting Down syndrome.

Since the specific analysis offered was not confirmed in this question, I was concerned about the possibility of her being offered amnio without the benefit of the triple test. So I made my reply general enough so that the mother could ask follow-up questions. However, since she did not return, of course my answer looks unsatisfactory to whoever might be using this forum as a read-only resource. Thanks for adding the info. :-)

Sincerely,

ant_fugue

I'd like to remind you that we're in Russian discussion board so Russian language is preferred, ok?