THAN PHAN AN DAY VA CAC NGUYEN NHAN DOTBIEN GEN THUONG GAP BS NGUYEN ANH DUY- 8S HA TO NGUYEN BENH VIEN THOU HINH ANH SIEU AM THAN BINH THUONG f (uy 1: Than phan dm day hon gan va khong phan bet dug vO -tu) Sau 17 twin Phan đượt vb ty trén sigu dm va thémc0 phadnm “| dGng dang ogc kém hom so voi gan Than trong trong ci dt may én tt ché cho dm (harmonics HINH ANH SIEU AM THAN BÌM THƯỜNG ‘ cnet M1 '1 etd vot) Sau 17 tua Phan bet duc vo ty trénsiéu am va thén tổ phn âm am Gong dahnod gKem _ hon soviganlich THAN PHAN AM DAY + Than phan dm day Koi cd hi dm gan/lich +Tan suat 16/1000 + Than phan dm day trad sinh la mot | bev hen cote do nhigu nguyén nn chi khGng don thuan la do loan sé, trl Ki km theo thigu ining, Tass, Gagnadoux ME, Aubry MC, GubleMCr, DumeY, Donmergues M, Prenatal agnosis of blateal lated etal ypeechagel Kidneys pos ret e ong tet m outcome? | ol pen 128-05 ipo RS 4 name Hyperechogenie Fetal Kidneys: Uncertain Diagnosis and Unpredictable Future? Cpt Ast!) Ang Ana: Bal Nena» Arora Rupa’ Sebyl Ren RiauPuna + Bieu hin sin Wy hodng qua ý +Bénh Htc nghn dung nu di | *Lécbhoi 0 ' in trì 4, Fetal Med, (September 1020) 1228-233 + HOi ching phat ign uá mít + Thuyen tc tinh mach thin + Hoi ching thn hu bd sinh Rece17iNovveembedr :2023 | Revised: 26 Decembe2r029 | Accepted: 29 December 2023 PRENATAL WILEY Đôi 101002/p46617 DIAGNOSIS REVIEW Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies Christine B, Hertenstein’ | KrisA tMiellenr!® | Judy A Estroff® | Karin J, Blakemore! © Nhom don gen: Copy number variants «ADPKD + 1Iql2 eltandoHnNFIb tang phd bet vo tu * Nut Oi inh thutng Di trayen tri: PKDA/ PKD2, ti bone Ning (hey 2 Nidy CV And ng iy ae IONIAN lo! IW.WW0U1 barge Di trayen tris PKOA/PKDE tt home DAC IE + Than tang am vo-> tang pb tujvo - li 8h thuong + Bol: nang lận M03 Út Povey dna Sn sa [WÔMMM |RAMMỢ MA {old Mol Sl, 2001 Jun 2042) 6828, PMCID: PMC8286086 Pubiahed online 2021 un 17, do 108302 a3 PMID 4204582 Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease Aan Vat Goat aia A Gri Gara Can CDPB: -PKDA-2(nhdm chinh pay ADPKD), : «T9C2/PKD4 (Tuberous Sclerosis Complex) -INHÉ -Nhom Cliopathies nhu' Bardet- Biedl (BBS), Joubert (1, Meckel syndrome (MIS), Nalini waited ws Curd Gar nar Nl abhi fda Reese Poei Os tl 2c 2004503 1 BENH THAN DA NANG DI TRUYEN LAN Autosomal Recessive Polycystic Kidney Disease (ARPKD) Than rt lin (>44 SD}, phan dm dy mat hn bit vd tu tô nantghủ |lễn ông pop 1 BENH THAN DA NANG DI TRUYEN LAN Autosomal Recessive Polycystic Kidney Disease (ARPKO} Than rt in (44 SD), phan dm dy, mt phn bet vo ty, mhiu nang nhd » À_ TM ọ II) Nhớ \ mw., DI, ‘ MW 1M II) iM eT TT MU bps wee ino W eT tL ` MjÍlll] 10t a A ) BENH THAN DA NANG DITRUYEN LAN Autosomal Recessive Polycystic Kidney Disease (ARPKD} + Tht ln, pan de day (> +40], mt phn big vo tu, dn ng gop, bang quang khang thay, + Thuting dike tidy iv i 2, BENH THAN DA NANG DI TRUYEN LAN Autosomal Recessive Polycystic Kidney Disease (ARPKD)} Than phan dm day + nghi dén dung mat trong gan 3, THAN DA NAVNA GTIEU DUONG Renal Cyst And Diabetes (RCAD) + 50% do mat dogn NST 17912 chia gen: HNFIB (CF) ‘Din hinh 1, Than phan dm dy matting phn bet tu v, ++ nang, Oi inh thug, 4 dn bé thn 2, MODY5 3, Bt thutmgthan knh + Him din tén dn nh thang cu {, Rasmussen M, Sunde 12412 deleton and duplication yndrome In Denmark clnkal cohort of 8 pant and review ofthe erature, AJ Med GenetA, 2016 Now; A Gila, Achiron Prenatal diagnos of 17942 deletion syndrome: rom fetal hyperechogenic kidneys to hgh ri for autism, Prenat Diag, 2016 Now 3, THAN DA NAVNA GTIEU DUONG Renal Cyst And Diabetes (RCAD) Thang inl sdn: Thal 2 tub, 2thf echdoy sng ang thn thy ang NOTA VANST toh 3, THAN DA NAVNA GTIEU DUONG Renal Cyst And Diabetes (RCAD) UT nnd km ay cM Gn UC Un) NC "pgtt bid i ln pl ga lội 4, MECKEL GRUBER SYNDROME * Ben di trageyn einntr NST thugtl,ti phat 25H + {inh diéngbm tam chitg: 2 thén da nang, thodt indo va da ngon