Iimvavanyo ze-Genetic ngexesha lokukhulelwa

Kuloluhlu "oogqirha" oogqirha, oomama baya kubuyela kwidokotela wamazinyo, i-oorist, i-cardiologist therapist, eqinisweni, i-gynecologist. Kwaye kuyimfuneko nini ukubonisana ne-geneticist? Kwaye kuluphi na iimvavanyo zofuzo ezifunekayo ngexesha lokukhulelwa? Impendulo engenangqiqo yeengcali iyimfuneko.

Ukuba i-karapuzik esanda kuzalwa ifana neeyure ezimbini ngokulandelelana, okanye ukuba umntu oneminyaka emithathu ubudala oneminyaka engama-30 ubudala, sele ehlambalaza, uMama okanye uTata baxela ngelinye ilanga, bathi: "Zizo zonke iintsapho zeentsapho zakho!" Enyanisweni, iigenji zigqiba ukuba akukho nto, ngoko ke. Ngaloo ndlela, zombini umbala weenwele, kunye nokunqunyulwa kwamehlo, kunye nomgaqo-siseko womzimba, kunye nempawu ezithile, umntu omncinane, ngokuzithandela okanye ngokungazi, ilifa. Ukuchaphazela oku, ngenhlanhla okanye ngelanga, umntu akakwazi okwamanje (ukucwangcisa abantu kunye nokuphazamisa "ubugcisa bukaThixo" kwisigaba sokuzalwa kobomi obutsha kungavunyelwe ngumthetho). Nangona kunjalo, kukho iimeko xa ngaphandle koncedo lwabazali bezityalo zemvelo ukubonakala komntwana onempilo kufakwa phantsi kombuzo omkhulu ... Ngoko, ukutyelela "abalawuli begciwane", umama nobawo banezizathu ezisixhenxe ...

1. Ukulungiselela ukukhulelwa

Ngoku abaninzi abatshabini abaselula, besandula isicelo kwiofisi yokubhalisa, baceba ixesha lokubonakala kwintsapho yabo isityalo esincinane sothando. Nangona eli xesha lifika, umama kunye nobaba baya kuba nexhala lokuba umntwana wabo ngokusayinwa kweZodiac kufuneka ukuba yiCapricorn (iNgonyama, i-Aquarius ...) kunye nommeli ofunayo-oqinileyo okanye obunqabileyo ngesini. Phantse, ukunikezela ukuhlaziywa kwegazi okanye ukubonisana nomfuzo, inkulumo, njengomthetho, ayihambi. Okanye uya, ukuba sele sele ixakekile ngokukhulelwa okanye ukukhulelwa. Kutheni i-ofisi yomgqirha wezofuzo iphela? Kuyoyikeka? Kholelwa ngokuzithandela. Nangona kunjalo, enyanisweni, akukho nto inomngcipheko kwi-genetic counseling counseling, kodwa phakathi kwakho, phakathi kobuninzi beendabuko "zamangalisa" malunga nokukhulelwa, akusayi kubakho isizathu sokuzonwabisa okhethekileyo.

I-geneticist iya kwenza umntu, uqinisekise ukuba usapho lwakho usemngciphekweni wezifo ezifa, kwaye uncome ukuba wenze izifundo eziyimfuneko ukukhusela ukukhubazeka kwemfuyo kwintsana ezayo. Kwenzeka ukuba nangona umzali okhuselekileyo kwinqanaba lokujonga i-heredity unokufumana "ukungasebenzi," kunye nomntwana onokubonakala, impilo yakhe ingasongela nayiphi into, ngaphantsi kwefuthe lezinto zangaphandle, ingozi ebonakalayo ngokuphulwa kwangokuzalwa. Ngoko ke, umsebenzi wezofuzo awugcini nje ukubuza abazali malunga nezifo zokuzalwa, kodwa nokuba ufumane ukuba kukho nayiphi na imiphumo emibi ebomini babantu abangabantwana abangabonanga (umzekelo, ukuchithwa kwe-radioactive, ukusebenza ngama-chemical reaction kwaye njalo), kwaye ukucacisa ukuba amathuba okuzalwa komntwana kunye nesinye isifo. Ngelishwa, abazali abaphilileyo abacwangcisa umntwana basabonwa ngokukhawuleza kwii-geneticists, kwaye ngokwenene, ngokwemigstatistiki, kwintlanzana ephilileyo, umngcipheko wokuba usana olune-chromosomal breakage ngu-5-10%. Ukuba intsapho ayiwele kule nombolo, ibonakala ibancinci. Yaye xa ihlahlela?

2. Akunakwenzeka ukukhulelwa umntwana okanye ukunyamezela ukukhulelwa (ukulahleka kwamathambo)

Ngamanye amaxesha i-ofisi ye-genetics yezo ntsapho yimeko yokugqibela. Bajika kuye, besele bangena kwiimeko ezingenasiphelo. Iingqungquthela zomeleleyo, kwaye ukuba umfazi ongenabantwana ixesha elide okanye kukho ukulahleka kwesisu, izihlobo zibeka ityala kulo mfazi ... Into ebaluleke kakhulu xa umfazi eqala ukukholelwa ukuba "akanako ukufumana umntwana onempilo" kwaye uyazithintela ithemba lokuba unina. Ngokuqhelekileyo, ingxaki yonke kukuba ukungalingani kwemfuyo embryo (i-gomet eyenziwe ngumxube weeseli zesini kunye neeseli zesini) ikhokelela ekutshiseni nasekukhanyekeni kweqanda lomntwana ngexesha lokuphuhlisa kwangaphambili (ngeentsuku zokuqala okanye iiyure emva kokukhulelwa). Kwaye oku akunakho ukuba kuhambisane nokulibaziseka kwenyanga kwaye akukho mqondiso wokukhulelwa. Ngamanye amaxesha imibhangqwana ingaphumelela iminyaka yoviwo kwaye iphathise ukungabikho komntwana okanye ukukhulelwa kwesisu ngokukhulelwa, ngaphandle kokucinga ukuba isizathu esona sizathu sokuba zonke iintsilelo zingezona zifo. Ukubonisana ngokuqhelekileyo kwiziko lofuzo lwezonyango kunye nokwenza iimvavanyo zofuzo ngexesha lokukhulelwa kuya kucacisa imeko ecacileyo kwaye kuncede ukuxazulula iingxabano. Ngenxa yale njongo, abazali abaza kubakho banikezelwa uvavanyo olufanayo lwegazi lokumisela uhlobo lwe-karyo. Kwaye ukufundwa kwe-chromosome ukuqashwa kuyinto efanayo, kuba umntwana ufumana isiqingatha se-chromosomes kumama wakhe, kwaye okwesibini-ukusuka kwipapa.

3. Ubudala bomama ozayo - kwi-35, kunye neepapa-ukuya kuma-50

Kufuneka kuphawulwe ukuba nangona ubudala bokuzala bobafazi banamhlanje benyuke kwiminyaka engama-40, kwaye ibinzana elincinci elithi "elidala" elimalunga noomama abaneminyaka engama-25 sele lishiye isicatshulwa soogqirha ngamava enomdla, ixesha lexesha alixhomekiyo - iifama zezintombi zikhula. Emva koko, bakhulu kunomzimba wesifazane ngo ... 4.5 iinyanga kwaye kule "lwakhiwo" lihlala kwaye likhula emzimbeni wakhe ngexesha lonke lokuzala. I-Spermatozoa ihlaziywa zonke iintsuku ezingama-72 ukuya kuma-80. Ngoko ke, kwenzeka ukuba iqanda eliguga ngenxa yobudala balo alisoloko lijongene nayo "uxanduva" kwinqanaba eliphezulu - umngcipheko wokutshintshwa kwemvelo kukhula kunye nobudala. I-Genetics isebenzisana nezibalo ezinzima: kubafundi abangama-900 abaneminyaka engama-25 ubudala abanomntwana one-syndrome, sele sele beneminyaka engama-35 ubudala engozini yokuba nosana olunaloo ntsholongwane, ngelishwa, landa kathathu ... Kodwa ukuzala ekudala kweminyaka engama-45 nangaphezulu ngokukhethekileyo, kuba i-chromosome breakage ihlala yonke intsha engama-24. Ezi nkalo azikho konke ukuthanda nomama, ongaphezu kweminyaka engama-40, ukuba ukhulelwe kwaye abe nosana. Ukuze uphephe iphutha elibuhlungu, kuyafaneleka ukutyelela i-genetics ngexesha kwaye uhambelane neziphakamiso zayo.

4. Izixhobo zekhosi yokukhulelwa

Ukukhulelwa sele kuye kwazibonakaliswa ngemivimbo emibili kuvavanyo. Umama uyavuma ukunyanzela kwizihlobo kunye nabahlobo bakhe, uqala ukubeka esweni ukutya kwakhe (utshintsha isidlo sakusasa esenziwe ngekhofi kunye nenxalenye yetshokolethi, i-yoghurt kunye ne-gruel kwilayisi engaxilwanga), uxhasana kumagazini kubazali kwaye "ubeka" ekuboniswaneni kwabasetyhini. Xa umama ozayo ebhalisiwe (kwaye oku kufanelekile ukukhawuleza ukuya kwi-8-10 iveki yokukhulelwa), umgqirha-gynecologist uya kumbuza malunga nezifo, ukukhulelwa kwangaphambili, malunga nokukhulelwa kwangoku. Ngelizwi, ezi zizathu zilandelayo zikhokelela kwisigqibo se-gynecologist ukuthumela umama ozayo kwiimvavanyo zofuzo:

♦ isifo esiza kuzalwa kwisinye sabazali bexesha elizayo;

♦ Ukuzalwa komntwana odlulileyo kunye nophuhliso lwe-chromosomal pathology;

♦ Umama wexesha elizayo unomama ongaphezu kwama-35;

♦ Umthelela kwi-teratogens yomama nosana: ukuba ibhinqa elingaphambi kweveki ezili-12 zokukhulelwa lithatha iziyobisi ezinamandla okanye i-supplementary dietary, okanye utywala. Ngokubhekiselele kwinqanaba lokugqibela, kubalulekile ukuba uqaphele, ingakumbi ukuba kukho isiphakamiso sokuba umlenze ongacwangcanga wenziwa emva nje kweqela, apho umama okanye uyise ozayo babephantsi komqhubi.

5. Iziphumo zokuhlolwa kwe-ultrasound

Uviwo lokuqala lulungele ukudlula kwangaphambili kunokuba lufunekayo kwikhalenda ye-ultrasound evumelweyo, kwiiveki zokuqala ezi-4-5. Kule nqanaba, ugqirha unokuqinisekisa ukuba iqanda lomntwana likhona, njengoko kulindeleke, kwisigxina se-uterine, okanye "sinokutshatyalaliswa" okungenakufunwa (kukho umngcipheko wokukhulelwa kwe-ectopic).

Iyesibini ze-ultrasound kufuneka zenziwe ngaphandle kweeveki ezi-11-14, xa ugqirha unakho kwaye kufuneka enze uvavanyo oluchanekileyo lweengxaki ezithile kunye nokuchonga utshintsho olusenzekayo lwe-chromosomal pathology - kwaye ke lona wesifazane uthunyelwa kwi-genetics. Ingcali iza kubeka uviwo olunzulu ngokusebenzisa indlela evumela ukuba ufumane iiseli kwi-placenta kwaye uqonde ngokuchanekileyo isethi ye-chromosome yengane ngexesha lokukhulelwa (i-chorionic biopsy, amniocentesis). Iyesithathu (yesibini ecwangcisiweyo) i-ultrasound yinto efanelekileyo yenziwa ngeveki 20-22. Eli xesha lenza ukuba kube lula ukuphazamisa ukuphuhliswa kobuso bentsana, izitho, kunye nokuchonga ukuphazamiseka okwenzekayo ekuphuhlisweni kwezitho zangaphakathi zomntwana. Into ebaluleke kakhulu kweli nqanaba ayiyikuxilongwa ngokwawo, kodwa ithuba lokunyanga umntwana esibelethweni okanye ukulungiselela ikhosi ekhethekileyo yokuzalwa kwalowo mntwana, kusengaphambili ukuchonga amacebo athile enyango olulandelayo kuze kube yilapho umntwana ephulukana ngokupheleleyo.

6. Uhlalutyo lweemvavanyo ze-biochemical

Ukuba sicela oomama abaqhelekileyo kwikamva oko bafuna ukukususa ekukhulelweni kwabo, mhlawumbi yonke i-100% iya kuphendula: "Infinite ihlalutya." Kodwa oku, nangona kungengona yinto ebumnandi, ixesha "lemiba enomdla" ayinakupheliswa, kuba ngamanye amaxesha ukuhlolwa kwegazi ngokuqhelekileyo kubonisa izinto eziphazamisayo. Iimpawu zokungasebenzi kakuhle ziyingxenye yeprotheni ye-plasma, i-alpha-fetoprotein kunye ne-chorionic gonadotropin - iiprotheyini ezikhethekileyo eziveliswa ngama-embryonic tissue. Xa ukuxinwa kwala ma-proteins egazini lomama ozayo utshintsha, kunokwenzeka ukukrokrela ukuphulwa okusemandleni ekuphuhlisweni komntwana. Ukufundwa kwala manqaku kuyenziwa ngemihla ethile:

♦ inqanaba leprotheni ye-plasma kunye ne-chorionic gonadotropin - kwiiveki ezi-10 ukuya ku-13 ukuya ku-13;

♦ i-chorionic gonadotropin kunye ne-alfa-fetoprotein - kwiiveki ezingama-16 ukuya kwe-20. Iziphumo zeemvavanyo zegazi uMama anika ngazo kwibhanki yokubonisana yabesifazane, fikela kwintlobo yesifo somzimba, onomfazi ngexesha lokukhulelwa. Ukuba kukho isizathu sokukhathazeka kunye noviwo olongezelelweyo, ugqirha oya kwi-reception elandelayo okanye ngefowuni uyazisa uMama ngesidingo sokutyelela i-genetics kwaye adlulise iimvavanyo zofuzo.

7. Izimo ezintle kwiintsholongwane zokubeleka

Oo, ezi zifo ... Kodwa, ngokunyanisekileyo, ngamanye amaxesha akawudluli umama wesikhathi esizayo, kodwa, ngokuchaseneyo, "unamathela" emzimbeni wakhe okanye, ekubeni uhlala kwindawo efihliweyo, uqala ukuqhubeka. Isizathu salokhu - kwaye sinokukhubazeka ngokukhulelwa komzimba, kunye neengxaki ezingaphendulwanga zentsholongwane, kunye nokusuleleka kwexesha, apho kungekho mntu ukhuselweyo.

Ezinye iintsholongwane zentsholongwane (i-herpes, i-rubella, i-cytomegalovirus, i-toxoplasmosis) ngexesha lokukhulelwa lunokubangela ukukhula kakubi komntwana (oko kukuthi izifo ezinjalo zibizwa ngokuba yi-intrauterine). Kucetyiswa ukuqhuba uvavanyo lokuhlola ukususelwa kwintsholongwane ngaphambi kokuba ukhulelwe okanye ngeveki zokuqala zexesha, xa kusenokwenzeka ukukhusela impembelelo yabo kwintsana. Ukuba iziphumo zenzeke kwi-trimester yesibini okanye yesithathu - zonke ziphela ngokudabukisayo.

Kutheni kwenzeka i-chromosomal engafanelekanga?

I-Genetics iyayazi impendulo yalo mbuzo. Inyaniso kukuba uluntu olufanelekileyo kwi-chromosome yimbini. Ngokufanelekileyo, emva kokuhlanganiswa kweeseli zesini zoomama kunye noyise, inkqubo yokwahlukana okwedlula kwiiseli kunye nesethi efanayo ye-chromosome "iimbini" ihamba kuma-23 kunye noomama abangama-23. Kodwa kwenzeka ukuba i-chromosome yesithathu idibanisa iindidi "ngezizathu zayo" - kwaye injalo i-trio (ngokwesayensi, i-trisomy) iyona yecala lokukhubazeka komntwana. Kwimeko nayiphi na into, iyeza langoku likwazi ukuchonga ezi mpazamo kwangaphambili. Kwaye kunceda kweli nqanaba leemvavanyo zofuzo ngexesha lokukhulelwa. Ngoko musa ukoyika le ndlela yokuxilongwa - kwaye ube nempilo!