I-Down Syndrome ingenye yezifo ezivamile kakhulu eziphathelene nezakhi zofuzo. Kuyenzeka ngisho nasesiteji sokwakheka kwe-oocyte noma isidoda noma ngesikhathi se-fusion ngesikhathi sokukhulelwa. Ngaphezu kwalokho, ingane ine-chromosome eyengeziwe engu-21 futhi ngenxa yalokho, emangqamuzaneni omzimba awukho 46, njengoba kulindeleke, kodwa ama-chromosomes angu-47.
Indlela yokubona i-Down's syndrome ngesikhathi sokukhulelwa?
Kunezindlela eziningana zokukhomba i-Down syndrome ngesikhathi sokukhulelwa. Phakathi kwazo - izindlela ezingavamile, i-ultrasound, ukuhlola ukukhulelwa . Ngokuqinisekile, i-Down's syndrome ingatholakala ku-fetus kuphela ngosizo lwezindlela ezingavamile:
- i-chorionic biopsy emavikini angu-10-12 - umphumela uyatholakala ngemva kwezinsuku ezimbalwa. Kodwa-ke, inqubo iyingozi ngoba ingabangela ukuhlukumeza okungahambi kahle ngamacala angu-3%;
- i-placentocentosis emavikini angu-13-18 - umphumela uzokwaziswa ngemva kwezinsuku ezimbalwa. Ingozi yezinkinga zifana - ama-3-4% amacala aphela ekuphumuleni okungahambi kahle;
- amniocentesis ngamaviki angu-17-22 - kulokhu ingozi yokukhulelwa kwesisu iphathelene no-0.5%;
- I-Cordocenteis emavikini angu-21-23 - ama-1-2% amacala aqeda ukukhulelwa kwesisu.
Uma ngesikhathi sokubambisana ukuba khona kwe-Down's syndrome kutholakala, kungenzeka ukuqeda ukukhulelwa amasonto angama-22.
Yiqiniso, ingozi yokukhulelwa kwesisu okungahambi kahle - ukukhokha okungajabulisi ngobuqiniso, ikakhulukazi uma kuvela ukuthi umntwana ulungile. Ngakho-ke, akuzona zonke ezixazululwa ukuphathwa okunjalo. Ngokwezinga elithile lokuthi kungenzeka, i-Down's syndrome ingagwetshwa ngemiphumela yocwaningo lwe-ultrasound.
I-Ultrasound ye-fetus ene-Down syndrome
Izimpawu ze-Down's syndrome emntwaneni ngesikhathi sokukhulelwa kunzima ukucacisa ngosizo lwe-ultrasound, ngoba isifundo esinjalo sivumela ukuthi sinqume ngezinga eliphakeme lokuthembeka ngokusobala ngokusobala ukukhathazeka okwenziwe ngokwemvelo. Kodwa-ke, kunezinombolo zamakaki lapho udokotela angase asole khona ukuthi i-fetus ine-chromosome eyengeziwe. Futhi uma kusetshenziselwa ukuhlolwa i-fetus inezibonakaliso ze-Down's syndrome, ukutadisha kwabo ngokubanzi kuyokwenza kube lula ukuhlanganisa isithombe esifanele futhi uqinisekise i-trisomy 21 ngamathuba athile.
Ngakho, lezi zici zifaka:
- Ukwandiswa kwesikhala sekholomu (ukuqina okukhulu kwenkemba yomlomo wesibeletho noma ukuqoqwa kwamanzi angaphansi kwesigqabha). Ngokuvamile, le parameter akumele idlule u-2.5 mm ukuhlolwa kwesisindo kanye no-3 mm ukuhlolwa ngokusebenzisa udonga lwesisu. Ucwaningo olwenziwe luqhutshwa emavikini angu-10-13;
- ubude bamathambo emphunjini we-fetus - kunqunywa ku-trimester yesibili. I-Hypoplasia yamathambo emisipha ikhona kuwo wonke umntwana wesibili one-Down syndrome;
- isisindo esikhulisiwe;
- ithambo le-maxillary encishisiwe;
- i-tachycardia elinganisiwe (izinsimbi ezingaphezu kuka-170 ngomzuzu);
- ukwephulwa kwe-waveform yegazi ukugeleza emgodini owubuhlungu.
Uma uthola uphawu olulodwa noma ngaphezulu ku-ultrasound, lokhu akusho ukukhulelwa kwamaphesenti angu-100 wengane ene-Down's syndrome. Uyanconywa ukuba uthole olunye lwezinhlolo ze-laboratory ezichazwe ngenhla, uma owesifazane odongeni lomzimba ethatha izinto eziphathelene nomzimba.
I-Ultrasound inolwazi oluthe xaxa esikhathini samasonto angu-12-14 - ngalesi sikhathi udokotela angakwazi ngokunemba ngokunembile izinga lokubeka ingozi kanye nokusiza ukuthatha izinyathelo ezidingekayo.
Ukuhlolwa kwe-Down's syndrome - okulotshiwe
Enye indlela yokuthola i-Down's syndrome ekukhulelweni ukuhlolwa kwegazi nge-biochemical owesifazane okhulelwe ethathwe emthanjeni. Ukuhlaziywa kwabesifazane abakhulelwe nge-Down's syndrome kuhilela ukuzimisela kokuhlushwa egazini lakhe le-alfa-fetoproteins ne-hormone hCG.
I-Alfafetoprotein iphrotheni ekhiqizwa iphrotheni yesibindi sesisu. Ingena egazini labesifazane nge-amniotic fluid. Futhi izinga eliphansi lala maprotheni lingabonisa ukuthuthukiswa kwe-Down syndrome. Kunconywa kakhulu ukwenza lokhu kuhlaziywa emasontweni angu-16-18 ukubeletha.