Ukwelulekwa ngezakhi zofuzo ngaphambi kokubeletha

I-Genetics yisifundo sofuzo, inqubo yomzali yokudlulisela izakhi zofuzo ezithile ezinganeni zakhe.

• Ukubukeka komuntu, njengokuphakama, umbala wezinwele, umbala wesikhumba, nombala wamehlo, kunqunywa izakhi zofuzo.
• Ukukhubazeka kokuzalwa nezifo ezithile nakho kaningi kunqunywa yizakhi zofuzo.

Ukwelulekwa ngofuzo ngaphambi kokubeletha kuyinqubo lapho abazali bangafunda khona kabanzi mayelana:

• Kungenzeka kanjani ukuthi ingane yabo ibe nenkinga yofuzo
• Yikuphi ukuhlolwa okungabheka ukukhubazeka kofuzo noma ukuphazamiseka
• Ukunquma ukuthi ungathanda yini ukuthola lezi zivivinyo noma cha

Imibhangqwana efuna ukuba nengane ingahlolwa ngaphambi kokuba ikhulelwe. Abahlinzeki bezempilo bangabuye bahlole umbungu (umntwana ongakazalwa) ukubona ukuthi ngabe ingane izoba yini nesifo sofuzo, njenge-cystic fibrosis noma i-Down syndrome.

Kukuwe ukuthi kufanele uthole ukwelulekwa nokuhlolwa kwezakhi zofuzo ngaphambi kokubeletha. Uzofuna ukucabanga ngezifiso zakho, izinkolelo zakho, nezimo zomndeni wakho.

Abanye abantu banengozi enkulu kunabanye ngokudlulisela ukuphazamiseka kofuzo ezinganeni zabo. Kunjalo:

• Abantu abanamalungu omndeni noma izingane ezinokukhubazeka kofuzo noma kokuzalwa.
• AmaJuda avela eMpumalanga Yurophu. Bangaba nengozi enkulu yokuba nezingane ezineTay-Sachs noma isifo seCanavan.
• Abantu base-Afrika baseMelika, abangaba sengcupheni yokudlulisela i-sickle-cell anemia (isifo segazi) ezinganeni zabo.
• Abantu baseNingizimu-mpumalanga ye-Asia noma iMedithera, abasengozini enkulu yokuba nezingane ezine-thalassemia, isifo segazi.
• Abesifazane abachayeke kubuthi (ubuthi) obungadala ukukhubazeka kokuzalwa.
• Abesifazane abanenkinga yezempilo, njengesifo sikashukela, okungathinta umbungu wabo.
• Imibhangqwana eye yaphuphunyelwa yizisu kathathu (umbungu uyafa ngaphambi kwamasonto angama-20 ekhulelwe).

Ukuhlola kuphakanyiswa naku:

• Abesifazane abaneminyaka engaphezu kwengama-35, yize ukuhlolwa kwezakhi zofuzo manje sekunconyelwa abesifazane bayo yonke iminyaka.
• Abesifazane abathole imiphumela engajwayelekile ekuhlolweni kokukhulelwa, njenge-alpha-fetoprotein (AFP).
• Abesifazane umbungu wabo okhombisa imiphumela engajwayelekile ku-ultrasound yokukhulelwa.

Khuluma ngokululekwa ngezakhi zofuzo nomhlinzeki wakho nomndeni wakho. Buza imibuzo ongaba nayo mayelana nokuhlolwa nokuthi imiphumela izosho ukuthini kuwe.

Khumbula ukuthi ukuhlolwa kofuzo okwenziwa ngaphambi kokukhulelwa (ukukhulelwa) kungakutshela kuphela amathuba okuba nengane enesici esithile sokuzalwa. Isibonelo, ungafunda ukuthi wena nomlingani wakho ninethuba elilodwa kwamane lokuba nengane enesifo esithile noma isici.

Uma uthatha isinqumo sokukhulelwa, uzodinga ukuhlolwa okwengeziwe ukubona ukuthi ingane yakho izoba nenkinga noma cha.

Kulabo abangaba sengozini, imiphumela yokuhlolwa ingasiza ukuphendula imibuzo efana nale:

• Ngabe amathuba okuba nengane enokukhubazeka kwezofuzo aphezulu kakhulu kangangoba kufanele sibheke ezinye izindlela zokuqala umndeni?
• Uma unengane enesifo sofuzo, ingabe kukhona ukwelashwa noma ukuhlinzwa okungasiza ingane?
• Sizilungiselela kanjani ithuba lokuthi singaba nengane enenkinga yofuzo? Ingabe kukhona amakilasi noma amaqembu okusekela kwalesi sifo? Ingabe bakhona abahlinzeki abelapha izingane ezinesifo?
• Kufanele siqhubeke nokukhulelwa? Ingabe izinkinga zengane zinzima kangangoba singakhetha ukuqeda ukukhulelwa?

Ungazilungiselela ngokuthola ukuthi ngabe kukhona yini izinkinga zezokwelapha ezifana nalezi ezikhona emndenini wakho:

• Izinkinga zokukhulisa izingane
• Ukuhlukaniswa kwemishado
• Ukubeletha
• Izifo ezinzima zobuntwana

Izinyathelo zokwelulekwa ngofuzo ngaphambi kokubeletha zifaka:

• Uzogcwalisa ifomu lomlando womndeni ojulile bese ukhuluma nomeluleki ngezinkinga zempilo ezenzeka emndenini wakho.
• Ungase futhi uthole ukuhlolwa kwegazi ukubheka ama-chromosomes akho noma ezinye izakhi zofuzo.
• Umlando womndeni wakho kanye nemiphumela yokuhlolwa kuzosiza umeluleki ukuthi abheke ukukhubazeka kofuzo ongakudlulisela ezinganeni zakho.

Uma ukhetha ukuhlolwa ngemuva kokukhulelwa, izivivinyo ezingenziwa ngesikhathi sokukhulelwa (kungaba kumama noma embungwini) zifaka:

• I-Amniocentesis, lapho kukhishwa khona uketshezi esikhwameni se-amniotic (uketshezi oluzungeze ingane).
• Isampuli se-chorionic villus (i-CVS), ethatha isampula lamaseli avela ku-placenta.
• Isampuli yegazi elisebenza ngamandla (PUBS), elihlola igazi elisenkabeni (intambo exhumanisa umama nengane).
• Ukuhlolwa kokubeletha okungapheli, okubheka egazini likamama nge-DNA evela enganeni engaba ne-chromosome eyengeziwe noma engekho.

Lezi zivivinyo zinezingozi ezithile. Kungadala ukutheleleka, kulimaze umbungu, noma kubangele ukuphuphuma kwesisu. Uma ukhathazekile ngalezi zingozi, khuluma nomhlinzeki wakho.

Inhloso yokwelulekwa ngofuzo ngaphambi kokubeletha ukusiza nje abazali benze izinqumo ezinolwazi. Umeluleki wezofuzo uzokusiza uthole ukuthi ungayisebenzisa kanjani imininingwane oyithola ezivivinyweni zakho. Uma usengozini, noma uma uthola ukuthi ingane yakho inesifo, umeluleki wakho nomhlinzeki bazokhuluma nawe mayelana nezinketho nezinsiza. Kepha izinqumo ngezakho.

• Ukwelulekwa ngofuzo nokuxilongwa ngaphambi kokubeletha

IHobel CJ, ukunakekelwa kukaWilliam J. Antepartum: ukubonwa kwangaphambili nokunakekelwa kokubeletha, ukuhlolwa kofuzo kanye ne-teratology, kanye nokuhlolwa kwengane ngaphambi kokubeletha. Ku: IHacker NF, iGambone JC, iHobel CJ, ama-eds. I-Hacker & Moore's Essentials ye-Obstetrics ne-Gynecology. Umhlaka 6. IPhiladelphia, PA: Elsevier; 2016: isahluko 7.

UNussbaum RL, McInnes RR, uWillard HF. Ukuxilongwa nokuhlolwa ngaphambi kokubeletha. Ku: Nussbaum RL, McInnes RR, Willard HF, ama-eds. I-Thompson & Thompson Genetics kwezokwelapha. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2016: isahluko 17.

I-Wapner RJ, Duggoff L. Ukuxilongwa kokubeletha kanye nokuphazamiseka kokuzalwa. Ku: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, abahleli. ICreasy neResnik's Maternal-Fetal Medicine: Izimiso kanye Nokuzijwayeza. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2019: isahluko 32.

• Ukwelulekwa Ngokofuzo