Konke mayelana nokuhlolwa kwezakhi zofuzo ngaphambi kokubeletha ngamagama alula

Ingabe ungumama ozayo? Khona-ke isifiso sakho esikhulu ukubeletha umntwana onempilo. Cishe usuvele wazi ngokuhlolwa kwegazi kanye nokuskena okwenziwa ngesikhathi sokukhulelwa ukuqinisekisa impilo yakho neyengane yakho. Kodwa uke wezwa ngohlobo olukhethekile lokuhlolwa olungathola kusengaphambili ukuthi ingane yakho engakazalwa inesifo sofuzo noma isici sokuzalwa? Namuhla sikhuluma ngalesi sihloko esibaluleke kakhulu abantu abaningi abanemibuzo ngaso, okungukuthi Ukuhlolwa Kofuzo Kwangaphambi Kokuzalwa.

Kalula nje, kuyini lokhu kuhlolwa kofuzo?

Ukuze siqonde lokhu, ake siqale sibheke ukuthi yiziphi izakhi zofuzo nama-chromosome. Cabanga ngomzimba wethu njengesakhiwo esikhulu. Izakhi zofuzo ziyipulani ephelele, noma isethi yemiyalelo, yokwakha leso sakhiwo. Ama-chromosome afana nezincwadi ezinkulu ezigcina lawa ma-gene ngokulandelana. Lapho ingane ikhula, ingxenye yalezi "zincwadi" izuzwe njengefa kunina kanti enye ingxenye izuzwe kubaba wayo.

Ngakho-ke, ngezinye izikhathi kungase kube nokushiyeka, amaphutha, noma ukuhlukahluka kulezi ziqondiso, noma kulezi "zincwadi". Yilapho ingane ingaba nesimo sofuzo noma isici sokuzalwa. Ngakho-ke, Ukuhlolwa Kofuzo Kwangaphambi Kokuzalwa kuyinqubo yokuhlola ingane ngaphambi kokuzalwa, ngesikhathi sokukhulelwa, ukuze kubonakale ukuthi ingane inayo yini inkinga enjalo.

Kunezinhlobo ezimbili eziyinhloko zokuhlolwa: ake siqonde umehluko

Lokhu kuhlolwa kwezakhi zofuzo kungahlukaniswa ngezigaba ezimbili eziyinhloko. Kubaluleke kakhulu ukuqonda umehluko oqondile phakathi kwalokhu okubili.

1. Ukuhlolwa Kokuhlola: Lokhu ukuhlolwa okulinganisa ubungozi.

2. Ukuhlolwa Kokuxilonga: Lokhu ukuhlolwa okuqinisekisa isimo sesifo.

Cabanga ngakho njengesibikezelo sezulu. Ukuhlolwa kokuhlola kuthi, "Kunethuba elingu-70% lokuthi lizokuna namuhla." Kusho nje ukuthi kunethuba elikhulu lokuthi lizokuna, hhayi ukuthi lizokuna nakanjani. Ukuhlolwa kokuxilonga kufana nokuqinisekisa ngokuqiniseka ukuthi "kuzokuna manje."

Lo mehluko ungaqondwa ngokucacile kusukela kuthebula elingezansi.

Yiziphi izivivinyo zokuhlola ezisetshenziswa kakhulu?

Kunezinhlobo eziningana zokuhlolwa kokuhlolwa. Udokotela wakho uzoncoma lezo ezifanele kakhulu kuwe.

1. Ukuhlolwa kofuzo kwabazali (Ukuhlolwa Kokuthwala)

Lokhu ukuhlolwa okubaluleke kakhulu. Lokhu akwenzelwa ingane, kodwa umama nobaba. Kunezifo ezithile zofuzo, futhi yize sinezakhi zofuzo ezibangela leso sifo emizimbeni yethu, asibonisi izimpawu zaleso sifo. Sibizwa ngokuthi 'umthwali' . Ake sithi ungumthwali wesifo esithile, kanti umyeni wakho naye ungumthwali wesifo esifanayo, noma ngabe nobabili ningenazo izimpawu, kunobungozi obungu-25% bokuthi ingane izozalwa naleso sifo. I-Thalassemia, isifo esivamile eSri Lanka, iyisibonelo esihle salokhu.

• Lokhu kwenziwa ngokuhlolwa kwegazi okulula.
• Ngokuvamile, umama uhlolwa kuqala. Uma kutholakala ukuthi umama unesifo, nobaba uyahlolwa.
• Lokhu kuhlolwa kufanele kwenziwe kanye empilweni .

2. Ukuhlolwa kokufuna ukukhubazeka kuma-chromosome omntwana

Iseli ngalinye emzimbeni wethu linama-chromosome angu-23, okwenza kube ngu- 46. Ngezinye izikhathi, lapho umntwana ekhulelwa, inani lala ma-chromosome lingashintsha. Isibonelo, uma kukhona amathathu e-chromosome engu-21 esikhundleni sezimbili, kungabangela i-Down syndrome.Kunezivivinyo eziningana ezenziwayo ukuhlola ubungozi bezimo ezinjalo.

• Ukuhlolwa kwe-DNA yomntwana osanda kuzalwa okungenamaseli (i-NIPT): Leli igama lesiSinhala elisho ukuthi 'Ukuhlolwa Kwangaphambi Kokubeletha Okungangenisi Umdlavuza'. Lolu ubuchwepheshe obuthuthuke kakhulu. Uma ukhulelwe, kunezingcezu ezincane kakhulu ze-DNA zomntwana wakho ezintanta egazini lakho. Lokhu kuhlolwa kusebenzisa isampula yegazi elula ethathwe kuwe ukuze kuhlukaniswe lezo zingcezu ze-DNA yomntwana wakho futhi kuhlolwe ingozi yokukhubazeka okuvamile kwe-chromosome njenge-Down syndrome. Lokhu kungenziwa ngemva kwamasonto ayi-10 okukhulelwa .
• Ukuhlolwa Kwegazi: Lokhu futhi kuwukuhlolwa okwenziwa egazini likamama. Kodwa-ke, lokhu akubheki i-DNA yengane, kodwa kubheka amazinga amaprotheni athile egazini likamama. Ngokusekelwe kula mazinga amaprotheni, kubalwa ingozi yokuba ingane ibe nesifo sofuzo. I-Quad Screen iyisibonelo salolu hlobo lokuhlolwa. Lokhu kufanele kwenziwe emavikini athile ngesikhathi sokukhulelwa.

3. Ukuhlolwa kokuhlola noma yikuphi ukukhubazeka emzimbeni wengane

Lokhu kuvame ukwenziwa nge-ultrasound scan.

• I-Nuchal Translucency (NT) Scan: Lesi yi-scan ekhethekile eyenziwa phakathi kwamasonto ayi-11 kuya kwayi-14 okukhulelwa. Ilinganisa ubukhulu bengqimba yoketshezi ngaphansi kwesikhumba ngemuva kwentamo yengane. Uma lobu bukhulu buphakeme kunokuvamile, kungaba uphawu lokukhubazeka kwe-chromosome, njenge-Down syndrome, noma inkinga ngenhliziyo yengane.
• Ukuhlolwa kwe-AFP (Isivivinyo Segazi Lomama): Lokhu ukuhlolwa kwegazi okwenziwa phakathi kwamasonto ayi-15-22. Uma izinga leprotheni ebizwa ngokuthi i-AFP liphakeme egazini likamama, kungase kubonise inkinga ngomgogodla womntwana (iziphambeko ze-neural tube) noma isisu.
• I-Fetal Anatomy Scan (I-Anomaly Scan): Lesi yi-scan omama abaningi abajwayelene nayo. Kulesi si-scan esikhulu, esenziwa phakathi kwamasonto ayi-18 nama-20 , udokotela uhlola ngokucophelela zonke izitho zomntwana, kusukela ekhanda kuye ozwaneni, okuhlanganisa ubuchopho, inhliziyo, izinso, umgogodla, izitho zomzimba kanye nobuso.

Ukuhlolwa kokuxilonga okuqinisekisa lesi sifo

Uma imiphumela yokuhlolwa kokuhlolwa ingajwayelekile, noma uma usengozini enkulu yokuba nengane enesifo sofuzo (isb., ukuba ngaphezu kweminyaka engu-35, umlando womndeni), udokotela wakho angase akuncomele ukuhlolwa kokuxilonga ukuqinisekisa lesi sifo.

Lezi zivivinyo zinembile kakhulu ngoba zithatha isampula yamaseli engane. Kodwa-ke, azilula njengokuhlolwa kokuhlola. Zibhekwa njengezivivinyo 'ezihlaselayo',Kukhona ingozi encane kakhulu (0.1% - 0.5%) yokuphuphuma kwesisu.

Kunezinhlobo ezimbili eziyinhloko zokuhlolwa kokuxilonga:

1. I-Amniocentesis: Lokhu kuvame ukwenziwa phakathi kwamasonto ayi-16 nama-20 okukhulelwa . Kulolu vivinyo, udokotela, ngaphansi kokuqondiswa yiskena, ufaka inalithi encane kakhulu esiswini sakho iye esibelethweni sakho bese esusa inani elincane loketshezi lwe-amniotic oluzungeze umntwana. Lolu ketshezi luqukethe amangqamuzana omntwana.

2. Ukuhlolwa Kwe-Chorionic Villus Sampling (CVS): Lokhu kuvame ukwenziwa kusenesikhathi, phakathi kwamasonto ayi-11 kuya kwayi-13 okukhulelwa . Lapha, kufakwa inaliti esiswini noma esithweni sangasese sowesifazane bese kuthathwa ingcezu encane kakhulu yezicubu ku-placenta. Amaseli aku-placenta afana ngezakhi zofuzo namaseli omntwana.

Ngokuthumela la masampula elabhorethri ukuze ahlolwe, kungatholakala ngokuqiniseka ukuthi ingane inazo yini izinkinga ze-chromosome.

Ingabe kuyadingeka ukwenza lezi zivivinyo? Ubani obaluleke kakhulu kubo?

Cha, akuphoqelekile ukwenza lezi zivivinyo. Lesi yisinqumo somuntu siqu ngokuphelele kuwe nomndeni wakho. Ngaphambi kokwenza leso sinqumo, udinga ukucabanga ngezinkolelo zakho, izindinganiso zakho, kanye nezinhlelo zakho zesikhathi esizayo.

Abanye abazali bathanda ukwazi ngesimo sempilo ngaphambi kokuba ingane yabo izalwe. Ngaleyo ndlela, banesikhathi sokuhlela kusengaphambili, bafunde ngaso, futhi balungiselele ngokwengqondo ukunakekelwa okukhethekile kanye nokwelashwa kwezokwelapha ingane ezodinga.

Futhi, ngezinye izikhathi imiphumela ingaba yinto edumazayo kakhulu, futhi abanye abazali baphoqeleka ukwenza izinqumo ezinzima kakhulu, njengokuthi baqhubeke yini nokukhulelwa noma cha.

Ngokuvamile, lezi zivivinyo zinikezwa ukunakwa okwengeziwe ezimweni ezilandelayo:

• Uma umphumela wokuhlolwa kokuhlolwa kwangaphambilini wawungu-'ingozi ephezulu'.
• Uma othile emndenini wakho noma womyeni wakho enesifo esibangelwa ufuzo.
• Uma umama eneminyaka engaphezu kwengu-35 ubudala (ngoba ingozi yezifo ezithile zofuzo iyanda njengoba iminyaka ikhula).
• Uma uke waphuphuma isisu ngaphambilini noma wabeletha ingane isishonile.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Ngaphambi kokwenza isinqumo ngalokhu, buza udokotela wakho yonke imibuzo onayo engqondweni bese uyicacisa. Ungagcini lutho engqondweni.

• "Njengoba ngineminyaka yami kanye nomlando wezokwelapha, yiziphi izivivinyo zokuhlolwa ezingcono kakhulu kimi?"
• "Uma umphumela wokuhlolwa kokuhlolwa ungavamile, yini esizoyenza ngokulandelayo?"
• "Ziyini izingozi enganeni noma kimi uma nginokuhlolwa kokuxilonga?"
• "Iyini amathuba okuba kube nemiphumela emibi kulezi zivivinyo?"
• "Kuthatha isikhathi esingakanani ukuthola imiphumela?"
• "Ingabe ukuhlolwa okufana ne-NIPT kunganquma ubulili bomntwana?" (Yebo, ukuhlolwa kwe-NIPT kanye ne-Anomaly scan nakho kunganquma ubulili bomntwana.)