Marfan syndrome ndi mimba: zomwe muyenera kudziwa

Marfan syndrome ndi matenda osowa majini, ndi ma autosomal dominant transmission, omwe amakhudza amayi ndi abambo. Kupatsirana kwamtundu uwu kumatanthauza kuti, "kholo likakhudzidwa, chiopsezo cha mwana aliyense kukhudzidwa ndi 1 mwa 2 (50%)., mosasamala kanthu za jenda”, Akufotokoza Dr Sophie Dupuis Girod, yemwe amagwira ntchito ku Marfan Disease and Rare Vascular Diseases Competence Center, mkati mwa CHU de Lyon. Akuti munthu mmodzi mwa anthu 5 aliwonse amakhudzidwa.

"Ndi matenda otchedwa connective tissue, kutanthauza kuti, minyewa yothandizira, yokhala ndi vuto lomwe lingakhudze minofu ingapo ndi ziwalo zingapo.”, akufotokoza Dr Dupuis Girod. Zimakhudza minofu yothandizira thupi, yomwe imakhalapo makamaka khungu, ndi mitsempha yaikulu, kuphatikizapo msempha, yomwe imatha kukula m'mimba mwake. Zitha kukhudzanso ulusi womwe umagwira ma lens, ndikupangitsa kuti ma lens asunthike.

Anthu amene ali ndi matenda a Marfan sadziŵika nthaŵi zonse, ngakhale kuti zapezeka kuti zimenezi zimachitika kaŵirikaŵiri wamtali, wa zala zazitali komanso woonda. Amatha kuwonetsa kusinthasintha kwakukulu, ligament ndi hyperlaxity yolumikizana, kapena ngakhale ma stretch marks.

Komabe, pali onyamula ma genetic mutation omwe ali ndi zizindikiro zochepa, ndipo ena amawonetsa zizindikiro zambiri, nthawi zina m'banja lomwelo. Mmodzi akhoza kufikiridwa ndi kuuma kosinthika kwambiri.

Kodi tingaganizire za mimba ndi Marfan syndrome?

"Chinthu chofunika kwambiri pa matenda a Marfan ndicho kung’ambika kwa msempha: pamene msempha wa msempha watambasuka kwambiri, mofanana ndi baluni yomwe yauthiridwa kwambiri, pamakhala ngozi yakuti khomalo lidzakhala lopyapyala kwambiri. ndi kuswa”, akufotokoza Dr Dupuis-Girod.

Chifukwa cha kuchuluka kwa magazi komanso kusintha kwa mahomoni komwe kumayambitsa, mimba ndi nthawi yowopsa kwa amayi onse omwe akhudzidwa. Chifukwa kusinthaku kutha kutsagana ndichiwopsezo chowonjezeka cha kufalikira kwa msempha kapena kung'ambika kwa msempha mwa mayi woyembekezera.

Pamene kung'ambika kwa mng'oma ndi wamkulu kuposa 45 mm, mimba imatsutsana chifukwa chiopsezo cha imfa chifukwa cha kupasuka kwa aorta chimakhala chachikulu, akutero Dr. Dupuis-Girod. Opaleshoni ya kung'ambika imalimbikitsidwa isanafike mimba yotheka.

Pansi pa 40 mm m'mimba mwa aortic, mimba imaloledwa, pamenepakati pa 40 ndi 45 mm m'mimba mwake, muyenera kusamala kwambiri.

M'mawu awo okhudzana ndi kasamalidwe ka mimba mwa amayi omwe ali ndi matenda a Marfan, Biomedicine Agency ndi National College of Gynecologists ndi Obstetricians of France (CNGOF) akufotokoza kuti chiopsezo cha aortic dissection alipo"kaya ndi mng'oma wa aortic", Koma kuti ngozi iyi"imatengedwa yaing'ono pamene m'mimba mwake ndi zosakwana 40mm, koma amaona lalikulu pamwamba, makamaka pamwamba 45mm".

Chikalatacho chimanena kuti mimba ndiyoletsedwa ngati wodwalayo:

• Kuwonetsedwa ndi kung'ambika kwa aortic;
• Ali ndi valavu yamakina;
• Ali ndi mng'oma waukulu kuposa 45 mm. Pakati pa 40 ndi 45 mm, chigamulocho chiyenera kuchitidwa pazochitika ndizochitika.

Kodi mimba imakhala bwanji mukakhala ndi Marfan syndrome?

Ngati mayi ali ndi matenda a Marfan, ndiye kuti aortic ultrasound ndi katswiri wamtima wodziwa bwino matendawa ayenera kuchitidwa kumapeto kwa trimester yoyamba, kumapeto kwa trimester yachiwiri, komanso mwezi uliwonse mu trimester yachitatu, komanso pafupi. patatha mwezi umodzi atabadwa.

Mimba iyenera kupitilira pa beta-blocker therapy, mu mlingo wathunthu ngati n'kotheka (bisoprolol 10 mg mwachitsanzo), pokambirana ndi obereketsa, imati CNGOF mu malingaliro ake. Chithandizo cha beta-blocker ichi, choperekedwa kuteteza msempha, sayenera kuyimitsidwa, kuphatikizapo panthawi yobereka. Kuyamwitsa sikutheka chifukwa cha njira ya beta blocker mu mkaka.

Ndikofunikira kudziwa kuti chithandizo chamankhwala chosinthira enzyme inhibitor (ACE) kapena sartans chimatsutsana panthawi yapakati.

Ngati mwamuna kapena mkazi yekha akhudzidwa, mimba imatsatiridwa ngati mimba yanthawi zonse.

Kodi zoopsa ndi zovuta za Marfan syndrome pa nthawi ya mimba ndi ziti?

Choopsa chachikulu kwa mayi woyembekezera ndi kukhala ndi a kung'ambika kwa aortic, ndi kuchitidwa opaleshoni yadzidzidzi. Kwa mwana wosabadwayo, ngati mayi woyembekezera ali ndi vuto lalikulu lamtunduwu, pali chiopsezo cha kuvutika kwa fetus kapena imfa. Ngati kuyang'anitsitsa kwa ultrasound kukuwonetsa chiopsezo chachikulu cha kung'ambika kwa mng'oma kapena kupasuka, kungakhale kofunikira kupanga gawo la cesarean ndikubereka mwana asanakwane.

Marfan syndrome ndi mimba: ndi chiopsezo chotani chomwe mwanayo amakhudzidwanso?

"Kholo likakhudzidwa, chiopsezo choti mwana aliyense akhudzidwe (kapena wonyamula masinthidwewo) ndi 1 mwa 2 (50%), mosasamala kanthu za kugonana.”, Akufotokoza Dr Sophie Dupuis Girod.

Kusintha kwa majini komwe kumalumikizidwa ndi matenda a Marfan ndi osati kufalitsidwa ndi kholo, Zitha kuwonekeranso pa nthawi ya umuna, mwa mwana yemwe palibe makolo omwe ali ndi chonyamulira.

Kodi kuyezetsa kobadwa nako kungapangidwe kuzindikira Marfan syndrome mu chiberekero?

Ngati kusinthako kumadziwika ndi kudziwidwa m’banjamo, n’zotheka kupanga matenda a m’mimba (PND), kudziŵa ngati mwana wosabadwayo wakhudzidwa, kapenanso kutulukira matenda a pre-implantation (PGD) pambuyo pa in vitro fertilization (IVF).

Ngati makolo sakufuna kutenga mimbayo mpaka nthawi yomwe mwanayo wakhudzidwa, ndipo akufuna kuti athandizidwe kuti athetse mimba (IMG) pamenepa, akhoza kuyesedwa asanabadwe. Koma DPN iyi imaperekedwa kokha pa pempho la awiriwa.

Ngati banjali likuganiza za IMG ngati mwana wosabadwayo ali ndi matenda a Marfan, fayilo yawo idzawunikidwa ku Prenatal Diagnostic Center (CDPN), yomwe idzafunika kuvomerezedwa. Podziwa bwino zimenezon’zosatheka kudziŵa mmene mwana wosabadwayo angawonongere, kokha ngati iye ali chonyamulira kapena ayi wa chibadwa masinthidwe.

Kodi matenda a pre-implantation angapangidwe kuti mwana wosabadwayo asakhudzidwe?

Ngati mmodzi mwa anthu awiriwa ali ndi matenda a Marfan syndrome, n'zotheka kutengera matenda a preimplantation, kuti abzale mluza umene sungakhale wonyamula m'chiberekero.

Komabe, izi zikutanthawuza kuchitapo kanthu ku invitro fertilization ndi njira yoberekera mothandizidwa ndi mankhwala (MAP), njira yayitali komanso yolemetsa yachipatala kwa banjali.

Mimba ndi Marfan syndrome: kusankha umayi?

Mimba yokhala ndi matenda a Marfan imafunika kutsatiridwanso m'chipatala cha amayi oyembekezera komwe ogwira ntchito amakhala odziwa bwino ntchito yosamalira amayi apakati omwe ali ndi matendawa. Pali zonse mndandanda wa amayi otumizira, yofalitsidwa pa webusayiti marfan.fr.

"M'malingaliro amakono, payenera kukhala malo omwe ali ndi dipatimenti ya opaleshoni ya mtima pamalopo ngati mng'oma wa aortic mu mimba yoyambirira ndi yaikulu kuposa 40 mm.”, Amatchula Dr Dupuis-Girod.

Zindikirani kuti izi sizikugwirizana ndi mtundu wa amayi (I, II kapena III), chomwe sichiri chosankha chosankha umayi apa. Kunena zoona, Amayi oyembekezera a Marfan syndrome Nthawi zambiri amakhala m'mizinda ikuluikulu, choncho mlingo II kapena III.

Mimba ndi Marfan Syndrome: titha kukhala ndi epidural?

"Ndikofunikira kuti odwala opaleshoni omwe angathe kulowererapo amachenjezedwa, chifukwa pakhoza kukhala scoliosis kapena dural ectasia, ndiko kuti kufalikira kwa sac (dural) yomwe ili ndi msana. Mungafunike kupanga MRI kapena CT scan kuti muwone ngati mungathe kapena ayi kukhala ndi epidural anesthesia.”, akutero Dr Dupuis-Girod.

Mimba ndi Marfan Syndrome: Kodi kubereka kumayambika kapena chifukwa cha opaleshoni?

Mtundu wa kubereka udzadalira, mwa zina, pa kung'ambika m'mimba mwake ndipo ayenera kukambidwa kachiwiri pa nkhani ndi mlandu maziko.

"Ngati mtima wa amayi uli wokhazikika, kubadwa sikuyenera kuganiziridwa ngati lamulo masabata 37 asanakwane. Kubereka kungathe kuchitika kumaliseche ngati mng'oma wa aortic ndi wokhazikika, osakwana 40 mm, pokhapokha ngati epidural ndi kotheka. Thandizo lothamangitsa pogwiritsa ntchito makapu kapena chikho choyamwa chidzaperekedwa mosavuta kuti muchepetse kuthamangitsa. Kupanda kutero, kubereka kudzachitika ndi gawo la cesarean, nthawi zonse kusamala kuti pasakhale kusiyana kwa kuthamanga kwa magazi.”, akuwonjezera katswiri.

Kochokera ndi zina zowonjezera:

• https://www.marfan.fr/signes/maladie/grossesse/
• https://www.agence-biomedecine.fr/IMG/pdf/recommandations-pour-la-prise-en-charge-d-une-grossesse-chez-une-femme-presentant-un-syndrome-de-marfan-ou-apparente.pdf
• https://www.assomarfans.fr