SMFM Fetal Anomalies Consult Series #4: Genitourinary Anomalies

Taw qhia

Lub fetal genitourinary system muaj xws li ob lub raum, ureters, zais zis, thiab sab hauv thiab sab nraud genitalia. Kev kuaj xyuas tus qauv ntawm tus menyuam hauv plab genitourinary tom qab thawj peb lub hlis twg ntawm cev xeeb tub suav nrog kev pom ntawm lub raum thiab zais zis (Daim duab 1, A thiab B, thiab 2). Lub raum pelvis yuav tsum tau soj ntsuam rau dilation nyob rau hauv ib tug axial saib ntawm lub anteroposterior txoj kab uas hla nyob rau hauv lub thib ob thiab thib peb trimesters ntawm cev xeeb tub (Daim duab 1, C). Lub fetal genitalia yuav tsum tau kuaj nyob rau hauv ntau lub cev xeeb tub, vim qhov no tuaj yeem pab txiav txim siab ntawm chorionicity, lossis thaum kho mob qhia tias thaum tus neeg mob muaj kev pheej hmoo ntawm X-txuas caj ces kab mob (Daim duab 3). Tsis tas li ntawd, kev ntsuas ntawm cov kua amniotic yuav tsum tau ua (Daim duab 4), raws li nws muab kev ntsuas kev ua haujlwm ntawm lub raum hauv plab, uas tsim cov kua dej amniotic tom qab 16 txog 17 lub lis piam ntawm cev xeeb tub. Lub raum pathology tuaj yeem ua rau ob qho tib si nce thiab txo cov kua dej amniotic.

Thaum qhia, kev kuaj xyuas ultrasound (76811) yuav suav nrog kev kuaj xyuas ntawm cov qog adrenal thiab kev nug ntawm lub raum cov hlab ntsha (Daim duab 5). Kev tshuaj xyuas ntawm tus menyuam hauv plab genitalia kuj suav nrog.1

Qhov txawv txav ntawm lub genitourinary system yog ib qho ntawm feem ntau fetal structural malformations. Xws li kev tsis txaus ntseeg muaj xws li mob me me (piv txwv li, me me urinary tract dilation) mus rau qhov mob hnyav rau lub neej (piv txwv li, ob lub raum agenesis).

Vim tias lub raum yog lub luag haujlwm rau kev tsim cov kua dej amniotic, lub raum tsis zoo uas ua rau lub raum tsis ua haujlwm lossis tso zis (piv txwv li, urinary obstruction) tuaj yeem ua rau oligohydramnios hnyav, uas tuaj yeem ua rau pulmonary hypoplasia thiab tuaj yeem ua rau muaj kev phom sij rau lub neej. Lub zais zis thiab lub raum pelvis kuj pom tau yooj yim, thiab yog li ntawd, lub raum txawv txav feem ntau pom tau yooj yim. Cov kev txawv txav uas nyuaj rau txheeb xyuas, xws li unilateral raum agenesis lossis lub raum hauv plab, tsis tshua muaj kev phom sij rau lub neej lossis ua rau tus menyuam hauv plab.

Feem ntau lub raum anomalies raug cais tawm, thiab raws li txoj cai dav dav, qhov kev pheej hmoo ntawm kev mob aneuploidy lossis genetic syndromes tsawg. Qhov tshwj xeeb yog polycystic ob lub raum, uas tuaj yeem cuam tshuam nrog autosomal recessive lossis cov teeb meem tseem ceeb. Lwm yam kab mob caj ces tuaj yeem tshwm sim los ntawm ntau hom kab mob hauv lub raum lossis polycystic. Yog li ntawd, cov kab mob cystic raum yuav tsum tau ua tib zoo soj ntsuam kom nrhiav tau lwm yam tsis xws luag thiab cov kab mob hauv lub cev.

Qhov Kev Pab Cuam no tshuaj xyuas qhov kev kuaj mob ultrasound, kev ntsuam xyuas caj ces, thiab kev kho mob thiab cov txiaj ntsig ntawm cov kab mob genitourinary hauv qab no:

1 Adrenal neuroblastoma

2 Autosomal recessive polycystic raum kab mob

3 Lub zais zis qhov hluav taws xob obstruction

4 Duplicated sau system

5 ectopic cev xeeb tub

6 Hydroureter

7 Hypospadias

8 Multicystic dysplastic raum

9 Lub zes qe menyuam

10 Lub cev lub cev

11 Lub raum agenesis

12 Lub raum pelvic dilation

13 Kev tso zis

Rau cov menyuam mos uas muaj mob raum thiab tso zis, cov neeg laus kuj muaj ntau yam teeb meem hauv qhov no. Rau cov neeg laus, peb yuav tsum tiv thaiv kab mob raum. Feem ntau cov kab mob hauv lub raum yog tshwm sim los ntawm lub raum tsis ua haujlwm, uas ua rau lub raum tsis muaj peev xwm ua kom cov metabolism thiab co toxins hauv lub cev ib txwm muaj. Txawm li cas los xij, peb pom tias Cistanche muaj kev tiv thaiv kab mob raum. Cistanche tuaj yeem tswj hwm kev ua haujlwm ntawm adrenal, tiv thaiv lub siab, thiab txo qis uric acid. Nws tuaj yeem pab lub cev txo qis lub nra hnyav ntawm lub raum thiab txo qhov tshwm sim ntawm cov kab mob raum.

Nyem qhov txiaj ntsig kev noj qab haus huv ntawm cistanche

Coding

Thaum coding rau fetal genitourinary anomalies, Lub Koom Haum rau Niam-Fetal Medicine Coding Committee pom zoo kom siv International Classification of Diseases, Tenth Revision, code series O35.8XX.

TXOJ CAI

Cov kws sau ntawv xav lees paub Mary E. Norton, MD; Jeffrey A. Kuller, MD; thiab Angie C. Jelin, MD, rau kev muab kev tshuaj xyuas cov ntsiab lus ntawm noob caj noob ces thiab Joseph Wax, MD, rau kev muab kev tshuaj xyuas dav dav ntawm Kev Sib Tham no.

CEEB TOOM

1. AIUM xyaum parameter rau kev ua tau zoo ntawm cov ncauj lus kom ntxaws thib ob- thiab peb lub hlis twg ntawm kev kuaj mob obstetric ultrasound. J Ultrasound Med 2019; 38: 3093–100.

Adrenal neuroblastoma

Society for Maternal-Fetal Medicine (SMFM); Jeffrey Sperling, MD

Taw qhia

Cov qog qog nqaij hlav hauv plab tuaj yeem pom los ntawm ultrasound thaum kawg ntawm thawj peb lub hlis twg ntawm cev xeeb tub.1 Lawv tshwm sim li pyramidal hypoechoic cov qauv zoo tshaj rau lub raum hyperechoic. Thaum lub sijhawm thib ob ntawm cev xeeb tub, kev sib txawv ntawm corticomedullary tuaj yeem pom nrog hypoechoic cortex thiab hyperechoic medulla. Qhov loj ntawm lub caj pas nce thoob plaws lub cev xeeb tub tab sis tseem me dua lub raum. Thaum lub sij hawm peb lub hlis twg ntawm cev xeeb tub, cov tsos mob ntawm cov qog adrenal yog zoo ib yam li cov qog adrenal.1

Neuroblastomas suav txog 50 feem pua ​​​​ntawm fetal adrenal masses.2,3 Lawv muaj ntau dua nyob rau hauv cov me nyuam mos Dawb thiab me ntsis ntau dua nyob rau hauv cov txiv neej dua li cov poj niam.2 Neuroblastomas tshwm sim nyob rau hauv lub neural crest hlwb ntawm lub sympathetic paj hlwb. Txawm hais tias feem ntau tshwm sim los ntawm cov qog adrenal, lawv tuaj yeem tshwm sim hauv posterior mediastinum.2

Txhais

Lub sij hawm neuroblastoma yog hais txog ib spectrum ntawm neuroblastic hlav (xws li, neuroblastomas, ganglioneuroblastomas, thiab ganglioneuromas) uas tshwm sim los ntawm sympathetic ganglion hlwb.2 Txawm hais tias neuroblastomas yog malignant qog, thiab qee qhov tuaj yeem metastasize, qhov kev soj ntsuam tau zoo heev, thiab ntau qhov xwm txheej rov tshwm sim. 4

Ultrasound nrhiav

Adrenal neuroblastoma feem ntau tshwm sim raws li qhov zoo-encapsulated cystic lossis cov khoom loj nyob ib sab tab sis cais tawm ntawm lub raum thiab lwm cov qauv retroperitoneal (Daim duab). Kev tshawb pom ntawm cov xim Doppler interrogation yog variably qhia thiab suav nrog peripheral flow, tsis ntws, los yog nyob rau hauv vascularization ntawm lub hyperechogenic yam ntawm lub mass.3,5 Ib tug ib leeg noj cov hlab ntsha yog tsis feem ntau tam sim no thiab yuav qhia ntau tshaj subdiaphragmatic bronchopulmonary sequestration (BPS) .6

Associated Abnormalities

Tom qab yug me nyuam, neuroblastoma tau cuam tshuam nrog LiFraumeni syndrome, Hirschsprung kab mob, thiab neurofibromatosis hom 1, tab sis cov koom haum no tsis tau tshaj tawm hauv cov xwm txheej ua ntej. Yog hais tias tus kab mob neuroblastoma loj tuaj thiab ua rau lub plab zom mov, polyhydramnios tuaj yeem tshwm sim.7 Tshaj tawm catecholamines tau raug tshaj tawm thiab tuaj yeem ua rau niam txiv cov tsos mob, xws li tachycardia, kub siab, xeev siab, thiab ntuav.8 Tsis tas li ntawd, catecholamine tso tawm tau cuam tshuam nrog fetal cardiomyopathy. , tachycardia, thiab hydrops.9 Tsis tshua muaj, fetal neuroblastomas yuav metastasize rau lub siab.10

Differential Diagnosis

Kev kuaj mob sib txawv ntawm ib pawg hauv cheeb tsam no suav nrog cysts adrenal 11 (kev cais lossis cuam tshuam nrog ntau lub raum dysplastic lossis Beckwith-Wiedemann syndrome), adrenal hemorrhage, 12 subdiaphragmatic BPS, 13 qog nqaij hlav hauv siab, thiab adrenogenital syndrome (secondary to congenital adrenal hyperplasia). Hemorrhage nyob rau hauv adrenal cysts txuam nrog Beckwith-Wiedemann syndrome tau raug tshaj tawm, nyob rau hauv cov ntaub ntawv uas cov tsos yog ib tug complex mass.15

Kev ntsuam xyuas caj ces

Fetal neuroblastoma feem ntau yog ib qho kev tshawb pom. Yog tias tsis muaj qhov txawv txav ntxiv ntxiv rau ntawm ultrasound thiab tsev neeg keeb kwm tsis zoo, tsis muaj kev ntsuam xyuas caj ces dhau qhov kev tshuaj ntsuam xyuas aneuploidy feem ntau pom zoo.

Pregnancy and Delivery Management

Hydrops fetalis, polyhydramnios, los yog ob qho tib si tej zaum yuav tshwm sim nyob rau hauv tsis tshua muaj tshwm sim, feem ntau nrog loj lesion los yog nyob rau hauv qhov teeb meem ntawm metastatic kab mob; Yog li ntawd, yuav tsum tau kuaj xyuas serial ultrasound. Kev soj ntsuam ntawm Serial ultrasound tuaj yeem pab txiav txim siab tawm ntawm adrenal hemorrhage, uas tuaj yeem hloov pauv.4,16 Kev sab laj nrog tus kws kho mob oncology, neonatology, thiab phais yuav tsum tau txais los npaj thiab tswj kev ua ntej yug menyuam thiab tom qab yug menyuam. Feem ntau, kev txiav cev xeeb tub yog ib qho kev xaiv uas yuav tsum tau muab rau cov neeg mob thaum kuaj pom tus menyuam loj hauv plab.

Txawm li cas los xij, feem ntau ntawm cov mob neuroblastoma, qhov kev cia siab yog qhov zoo, thiab cov txiaj ntsig tau zoo. Sib koom kev txiav txim siab ntawm tus neeg mob yuav tsum tau muaj kev ntsuam xyuas zoo thiab kev tawm tswv yim ntau yam txog kev kwv yees. Yog tias kev txiav cev xeeb tub tau ua tiav, kev ntsuas histological tuaj yeem paub meej qhov kev kuaj mob.

Feem ntau, kev yug me nyuam hauv qhov chaw mos yog qhov tsim nyog, thiab kev yug me nyuam yuav tsum tau tshwj tseg rau cov kev qhia txog kev yug menyuam li ib txwm. Cesarean tus me nyuam tau raug pom zoo tias yog qhov zoo dua rau cov qog adrenal loj heev los tiv thaiv kev tawg lossis cov nqaij mos dystocia. Adrenal cyst aspiration ua ntej tus me nyuam muaj teeb meem vim qhov no yuav ua rau los ntshav, kev loj hlob tsis zoo, kev ua haujlwm ntxov ntxov, lossis kis mob. Kev xa mus rau hauv ib lub chaw saib xyuas tertiary yog pom zoo nrog kev txiav txim siab ntawm kev xa menyuam ntxov yog tias muaj pov thawj ntawm kev cuam tshuam fetal. Kev tshawb xyuas tom qab yug me nyuam, suav nrog ultrasound, magnetic resonance imaging, lossis lwm yam kev kuaj pom, raug pom zoo. Kev tswj hwm kev cia siab, koob biopsy, lossis kev tshawb nrhiav phais yuav xav tau raws li cov txiaj ntsig ntawm cov duab saum toj no, kev kuaj mob zaum kawg, thiab tus mob neonatal.

Kev kwv yees

Feem ntau, qhov kev cia siab yog qhov zoo, thiab cov kab mob neuroblastomas tuaj yeem daws tau hauv lub tsev menyuam lossis tom qab yug me nyuam.3,13 Kev ciaj sia ntawm cov menyuam mos uas muaj tus kab mob theem qis yog qhov zoo heev, txawm tias cov neeg muaj kab mob metastatic.17 Cov neeg mob uas muaj kev cuam tshuam tsis zoo tau tshwm sim. tshaj tawm.18 Qhov kev pheej hmoo rov tshwm sim ntawm qhov mob no tsis paub tab sis yuav muaj tsawg.

Cov ntsiab lus

Fetal adrenal neuroblastomas, muab los ntawm cov hlwb neural crest, yog cov feem ntau kuaj pom cov qog nqaij hlav ntawm menyuam yaus. Cov qog nqaij hlav tsawg no yog txuam nrog qhov zoo tshaj plaws tom qab yug menyuam. Kaw soj ntsuam nrog serial ultrasound tshuaj ntsuam xyuas cov cim qhia ntawm hydrops fetalis thiab polyhydramnios yog pom zoo. Kev sab laj Antenatal nrog rau menyuam yaus oncology, neonatology, thiab kev phais yog qhia.

REFERENCES

1. Norton ME. Callen's Ultrasonography hauv Obstetrics thiab Gynecology EBook. Elsevier Health Sciences; 2016.

2. Goodman MT, Gurney J, Smith M, Olshan A. Sympathetic paj hlwb hlav. Kev mob qog noj ntshav thiab kev ciaj sia ntawm cov menyuam yaus thiab cov tub ntxhais hluas: United States SEER Program. 1975; 1995:65–72.

3. Sauvat F, Sarnacki S, Brisse H, et al. Qhov tshwm sim ntawm suprarenal localized masses kuaj pom thaum lub sij hawm perinatal: ib qho kev tshawb fawb rov qab los ntawm ntau qhov chaw. Cancer: Interdisciplinary International Journal ntawm American Cancer Society. 2002; 94(9): 2474–80.

4. Fisher JPH, Tweddle DA. Neonatal neuroblastoma. Seminars in fetal & neonatal medicine 2012 Aug;17(4):207–15.

5. Schwärzler P, Bernard JP, Senat MV, Ville Y. Kev kuaj mob ua ntej yug menyuam ntawm cov qog adrenal: qhov sib txawv ntawm cov ntshav thiab cov qog nqaij hlav los ntawm xim Doppler sonography. Ultrasound hauv Obstetrics thiab Gynecology: Cov Ntawv Xov Xwm ntawm International Society of Ultrasound hauv Obstetrics thiab Gynecology. 1999; 13(5):351–5.

6. Curtis MR, Mooney DP, Vaccero TJ, et al. Prenatal ultrasound characterization ntawm suprarenal pawg: qhov sib txawv ntawm neuroblastoma thiab subdiaphragmatic ntxiv lobar pulmonary sequestration. Phau ntawv Journal of Ultrasound in Medicine 1997; 16(2): 75–83.

7. Lee HJ, Cho JH. Cov qog nqaij hlav hauv plab: kev tshawb pom ntawm lub cev xeeb tub ultrasound thiab cov yam ntxwv kho mob. Ultrasonography 2014; 33(4): 240.

8. Jennings RW, LaQuaglia MP, Leong K, Hendren WH, Adzick NS. Fetal neuroblastoma: Kev kuaj mob ua ntej yug menyuam thiab keeb kwm ntuj. Phau ntawv Journal of Pediatric Surgery 1993; 28(9): 1168–74.

9. Inoue T, Ito Y, Nakamura T, Matsuoka K, Sago H. Catecholamine-secreting neuroblastoma ua rau hydrops fetalis. Phau ntawv Journal of Perinatology 2014; 34:405–7.

10. Desai G, Filly RA, Rand L. Prenatal detection of extra-adrenal neuroblastoma with hepatic metastases. J Ultrasound Med 2009; 28(8): 1085–90.

11. Patti G, Fiocca G, Latini T, Celli E, Bellussi A, Nazzicone P. Kev kuaj mob ua ntej ntawm ob sab adrenal cysts. Phau ntawv Journal of Urology 1993; 150(4): 1189–91.

12. Strouse P, Bowerman RA, Schlesinger AE. Antenatal sonographic tshawb pom ntawm fetal adrenal hemorrhage. Phau ntawv Journal of Clinical Ultrasound 1995; 23(7): 442–6.

13. Rubenstein S, Benacerraf B, Retik A, Mandell J. Fetal suprarenal masses: sonographic tsos thiab kev kuaj mob sib txawv. Ultrasound hauv Obstetrics & Gynecology 1995; 5(3): 164–7.

14. Maki E, Oh K, Rogers S, Sohaey R. Kev yees duab thiab kev kuaj mob sib txawv ntawm suprarenal masses hauv fetus. J Ultrasound Med 2014; 33(5): 895–904.

15. Gocmen R, Basaran C, Karcaaltincaba M, et al. Ob sab hemorrhagic adrenal cysts nyob rau hauv ib daim ntawv tsis tiav ntawm Beckwith-Wiedemann syndrome: MRI thiab prenatal US tshawb pom. Abdominal Imaging 2005; 30(6:786–9.

16. Birkemeier KL. Kev yees duab ntawm cov khoom hauv plab hauv plab: kev tshuaj xyuas ntawm cov ntaub ntawv thiab cov tswv yim rau kev txhais cov duab. Pediatr Radiol 2020 Dec; 50(13): 1907–20.

17. London W, Castleberry R, ​​Matthay K, et al. Cov ntaub ntawv pov thawj rau kev txiav tawm hnub nyoog ntau dua 365 hnub rau kev pheej hmoo neuroblastoma pab pawg stratification hauv Children's Oncology Group. Phau ntawv Journal of Clinical Oncology 2005; 23(27): 6459–65.

18. Holgersen LO, Subramanian S, Kirpekar M, Mootabar H, Marcus JR. Spontaneous daws teeb meem ntawm antenatally kuaj mob qog adrenal. Phau ntawv Journal of Pediatric Surgery 1996; 31(1): 153–5.

Autosomal recessive polycystic raum kab mob

Society for Maternal-Fetal Medicine (SMFM); Kate Swanson, MD

Taw qhia

Autosomal recessive polycystic raum kab mob (ARPKD) yog ib yam kab mob uas tsis tshua muaj tshwm sim nrog kwv yees li ntawm 1 ntawm 20,000 yug los nyob.1 Txawm hais tias muaj qhov sib txawv ntawm kev nthuav qhia thiab kev nce qib tshiab hloov lub neej expectancy ntawm cov tib neeg cuam tshuam, nws tseem nyob. ib tug kab mob uas muaj kev mob siab rau thiab kev tuag, tshwj xeeb tshaj yog thaum kuaj pom prenatally.

Txhais

Cov tib neeg cuam tshuam nrog ARPKD feem ntau muaj cov kab mob biallelic sib txawv hauv PKHD1 noob ntawm chromosome 6p21. Cov kev hloov pauv no cuam tshuam rau kev tsim cov fibrocystin, ib qho protein uas pom nyob rau hauv thawj cilium los yog basal lub cev complex ntawm epithelial hlwb nyob rau hauv lub raum tubules thiab hepatic bile ducts.2 Cov variations no ua rau elongation thiab dilation ntawm cov ducts sau, tsim microcystins, thiab diffuse o ntawm ob lub raum.3 Vim li ntawd, cov tib neeg cuam tshuam tsim cov kab mob raum kawg thiab kab mob hepatobiliary.

Ultrasound nrhiav

There is wide variability in the prenatal presentation of ARPKD. In some cases, enlarged hyperechoic kidneys with poor corticomedullary differentiation can be identified in the second trimester of pregnancy. Frequently, the kidneys are quite enlarged, ranging from 4 to 15 standard deviations above normal in size. In addition, oligohydramnios or hydramnios are frequently present in ARPKD. In more subtle cases, mild enlargement and a hyperechoic cortical rim may be the only findings. In the third trimester of pregnancy, larger cysts >3 hli loj tuaj yeem tsim. Cov hlwv no tuaj yeem yog ob sab lossis ib leeg. Qee zaum, tsis muaj qhov txawv txav tau txheeb xyuas ua ntej yug menyuam (Daim duab).4

Associated Abnormalities

Ib cag ntawm oligohydramnios lossis hydramnios thiab cov txiaj ntsig pulmonary hypoplasia, uas qee zaum tuaj yeem xav tias muaj kev kuaj mob ultrasound, ntxiv rau qhov tsis txaus ntseeg ntawm kev kuaj mob tsis tshua muaj tshwm sim. Txawm hais tias hepatic fibrosis thiab biliary dysgenesis muaj nyob rau hauv cov neeg mob uas cuam tshuam, cov kev tshawb pom no tsis tshua pom muaj nyob rau hauv prenatally.4,5

Differential Diagnosis

Bardet-Biedl syndrome yog lwm ciliopathy uas tuaj yeem tshwm sim ua ntej nrog rau lub raum loj. Postaxial polydactyly feem ntau tshwm sim hauv cov tib neeg uas muaj Bardet-Biedl syndrome thiab tuaj yeem pab sib txawv ntawm ARPKD. Tsis tas li ntawd, lub raum parenchyma feem ntau yog homogenous nyob rau hauv cov neeg uas muaj Bardet-Biedl syndrome.6 Meckel-Gruber syndrome yog lwm yam tsis tshua muaj autosomal recessive mob uas tuaj yeem tshwm sim nrog rau lub raum loj; Cov hlwv feem ntau tshwm sim ntxov dua hauv ARPKD. Postaxial polydactyly thiab hauv nruab nrab lub paj hlwb malformations yog tshwm sim nrog Meckel-Gruber syndrome.5

Kev ntsuam xyuas caj ces

Kev kuaj mob ua ntej yug menyuam yuav tsum muaj thaum xav tias ARPKD. Tsis tas li ntawd, kev soj ntsuam chromosomal microarray tuaj yeem muab tau thaum kuaj xyuas ua ntej yug menyuam, tshwj xeeb tshaj yog thaum muaj kev tshawb pom ntxiv ntawm ultrasound, txawm hais tias nws yuav tsis pom cov kab mob ib leeg, suav nrog ARPKD. Kev ntsuam xyuas cov noob caj noob ces ntawm cov ntaub so ntswg tau txais los ntawm chorionic villus sampling lossis amniocentesis tuaj yeem siv los txheeb xyuas cov kab mob sib txawv hauv PKHD1 noob. Lub xub ntiag ntawm ob yam kab mob sib txawv hauv cov noob no tau lees paub qhov kev kuaj mob ntawm ARPKD. Txawm li cas los xij, txawm tias nyob rau hauv cov xwm txheej muaj zog histopathologic thiab kev kho mob rau kev kuaj mob, qhov sib txawv ntawm kev kuaj pom muaj li ntawm 80 feem pua ​​​​mus rau 85 feem pua ​​​​.7,8 Yog tias muaj qhov tsis txaus ntseeg ntxiv, kev sib koom ua ke, lossis tsev neeg keeb kwm ntawm ib tus mob tshwj xeeb, kev kuaj kab mob los yog exome sequencing yog qee zaum siv tau.

Pregnancy and Delivery Management

Muab qhov tsis zoo ntawm cov tib neeg uas muaj ARPKD ua ntej yug me nyuam, tshwj xeeb tshaj yog nyob rau hauv qhov chaw ntawm oligohydramnios los yog hydramnios thaum ntxov, cov neeg mob uas muaj kev cuam tshuam fetus yuav tsum tau muab kev txiav cev xeeb tub. Cov niam txiv uas xaiv lawv cev xeeb tub mus ntxiv yuav tsum tau txais kev saib xyuas kev nplij siab rau cov menyuam mos thaum lub sijhawm yug menyuam. Thaum cev xeeb tub, kev kuaj ultrasound serial tuaj yeem pab tau los ntsuas lub raum loj thiab cov kua dej amniotic.9 Cov niam txiv uas xav kom rov muaj sia nyob yuav tsum xa mus rau ntawm qhov chaw uas muaj qib IV hauv tsev kho mob neonatal intensive care unit. Vim tias qhov loj ntawm ob lub raum tuaj yeem ua rau lub plab ncig uas tuaj yeem cuam tshuam qhov chaw mos ntawm lub sijhawm, kev yug me nyuam yuav tsim nyog.10

Kev kwv yees

Muaj qhov sib txawv ntawm qhov kev nthuav qhia thiab kev kwv yees ntawm ARPKD. Kev kuaj mob ua ntej yug menyuam ARPKD cuam tshuam nrog cov txiaj ntsig tsis zoo dua li ARPKD pom nyob rau hauv lub sijhawm yug menyuam lossis menyuam yaus. Cov neeg uas muaj oligohydramnios lossis hydramnios tau txheeb xyuas ntawm kev ua ntej yug menyuam yog qhov muaj feem pheej hmoo ntawm pulmonary hypoplasia thiab muaj kwv yees li 30 feem pua ​​​​ntawm cov neeg tuag nyob rau hauv thawj xyoo ntawm lub neej.11 Tsis tas li ntawd, nws tau tshaj tawm tias genotype tej zaum yuav muaj qee qhov kev koom tes nrog phenotype thiab cov tib neeg. nrog truncating variants muaj feem yuav muaj cov txiaj ntsig tsis zoo tshaj cov uas tsis muaj qhov txawv txav.3

Cov tib neeg uas muaj sia nyob dhau thawj lub hlis ntawm lub neej muaj qhov kev cia siab zoo dua, nrog kev tshaj tawm cov neeg muaj sia nyob ntawm 10 xyoo siab txog 82 feem pua. Txawm li cas los xij, cov neeg mob no feem ntau yuav tsum tau lim ntshav thiab hloov lub raum thiab feem ntau ua rau kub siab, mob siab fibrosis, thiab portal hypertension.12

Cov ntsiab lus

ARPKD feem ntau kuaj tau ntawm ultrasound ua ntej yug menyuam. Txawm li cas los xij, thaum nws raug txheeb xyuas, nws cuam tshuam nrog kev mob hnyav thiab kev tuag. Raws li tus kab mob autosomal recessive nrog kev nthuav qhia txawv txav, cov niam txiv thiab cov kwv tij ntawm cov neeg mob uas muaj kev cuam tshuam kev xeeb tub yuav tsum tau soj ntsuam thiab ntuas txog lawv txoj kev pheej hmoo ntawm kev xeeb tub.

REFERENCES

1. Wilson PD. Polycystic raum kab mob. N Engl J Med 2004; 350:151–64.

2. Ward CJ, Yuan D, Masyuk TV, et al. Cellular thiab subcellular localization ntawm ARPKD protein; fibrocystin yog qhia rau thawj cilia. Hum Mol Genet 2003; 12:2703–10.

3. Denamur E, Delezoide AL, Alberti C, thiab al. Genotype-phenotype correlations nyob rau hauv fetuses thiab neonates nrog autosomal recessive polycystic raum kab mob. Raum Int 2010; 77:350–8.

4. Avni FE, Garel L, Cassart M, et al. Kev ntsuam xyuas Perinatal ntawm cov kab mob cystic raum: kev koom tes ntawm sonography. Pediatr Radiol 2006; 36:405–14.

5. Erger F, Brüchle NO, Gembruch U, Zerres K. Prenatal ultrasound, genotype, thiab tshwm sim nyob rau hauv ib tug loj cohort ntawm prenatally cuam tshuam cov neeg mob uas autosomal-recessive polycystic raum kab mob thiab lwm yam hereditary cystic raum kab mob. Arch Gynecol Obstet 2017; 295: 897–906.

6. Mary L, Chennen K, Steetzel C, et al. Bardet-Biedl syndrome: antenatal nthuav qhia ntawm plaub caug-tsib fetuses nrog biallelic pathogenic variants nyob rau hauv paub Bardet-Biedl syndrome noob. Clin Genet 2019; 95:384–97.

7. Bergmann C, Senderek J, Schneider F, et al. PKHD1 kev hloov pauv hauv cov tsev neeg thov kev kuaj mob ua ntej yug menyuam rau autosomal recessive polycystic raum kab mob (ARPKD). Hum Mutat 2004; 23:487–95.

8. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic raum kab mob: kev kho mob hauv North America. Pediatrics 2003; 111: 1072–80.

9. Guay-Woodford LM, Bissler JJ, Braun MC, et al. Kev pom zoo cov kws tshaj lij cov lus pom zoo rau kev kuaj mob thiab kev tswj hwm ntawm autosomal recessive polycystic raum kab mob: daim ntawv tshaj tawm ntawm lub rooj sib tham thoob ntiaj teb. J Pediatr 2014; 165:611–7.

10. Dukic L, Schaffelder R, Schaible T, Sütterlin M, Siemer J. [Kev loj hlob ntawm fetal plab ncig vim muaj kab mob hauv lub raum los ntawm cov kab mob hauv lub raum]. Z Geburtsilfe Neonatol 2010; 214:119–22.

11. Sweeney WE, Avner ED. Polycystic raum kab mob, autosomal recessive. Seattle, WA: University of Washington; 2021.

12. Bergmann C, Senderek J, Windelen E, et al. Kev soj ntsuam qhov tshwm sim ntawm PKHD1 kev hloov pauv hauv 164 cov neeg mob uas muaj autosomal-recessive polycystic raum kab mob (ARPKD). Raum Int 2005; 67:829–48.

Lub zais zis obstruction

Society for Maternal-Fetal Medicine (SMFM); Anne Mardy, MD

Taw qhia

Fetal zais zis qhov hluav taws xob thaiv (los yog txo qis urinary tract obstruction [LUTO]) feem ntau tshwm sim los ntawm posterior urethral li qub thiab urethral atresia thiab tuaj yeem ua rau lub raum tsis zoo thiab pulmonary hypoplasia. Nws yog txuam nrog tus nqi siab ntawm perinatal morbidity thiab tuag.

Txhais

Prenatally kuaj pom LUTO tshwm sim vim muaj qhov thaiv nyob rau hauv cov zis qis (lub zais zis qhov hluav taws xob) ntawm tus menyuam hauv plab thiab ua rau megacystis, lub zais zis tuab, thiab ob sab hydronephrosis nrog lossis tsis muaj cystic dysplasia ntawm lub raum parenchyma.

Ultrasound nrhiav

In the first trimester of pregnancy, megacystis, or an enlarged bladder, is commonly defined as a sagittal length >7 mm.1e3 After the first trimester of pregnancy, there is no single definition of megacystis, with many different definitions found in the literature.4 One study defined the normal sagittal length as the gestational age in weeks minus 5 mm (95% upper or lower confidence interval [CI]¼7); megacystis was defined as greater than the upper limit of the 95% CI for the gestational age.5 A thickened bladder wall is defined as one that measures >3 hli. Hydronephrosis txhais tau tias yog dilation ntawm lub raum pelvis, raws li ntsuas nyob rau hauv lub anteroposterior txoj kab uas hla, ntawm 4 hli nyob rau hauv lub thib ob peb lub hlis twg ntawm cev xeeb tub thiab 7 hli nyob rau hauv peb lub hlis twg ntawm cev xeeb tub (Daim duab 1). Ib qho kev nthuav dav posterior urethra, tseem hu ua "keyhole" kos npe, feem ntau cuam tshuam nrog posterior urethral li qub (Daim duab 2). Tsis tas li ntawd, ureteral dilation tuaj yeem pom vim yog qhov reflux los ntawm lub zais zis siab. Lub raum yuav tsim cystic dysplasia los yog ua echogenic thiab atrophied.

Associated Abnormalities

Feem ntau cov neeg mob (78 feem pua) ntawm LUTO raug cais tawm.6 LUTO feem ntau cuam tshuam nrog oligohydramnios, tej zaum yuav ua rau cov ko taw clubbed lossis pulmonary hypoplasia. Urinary ascites thiab perinephric urinomas tuaj yeem tshwm sim los ntawm lub zais zis lossis lub raum tawg.

Differential Diagnosis

Qhov feem ntau etiology ntawm LUTO yog posterior urethral li qub (63 feem pua), uas yog congenital membranes nyob rau hauv lub posterior urethra uas ua raws li li qub los thaiv micturition. Classic nta muaj xws li megacystis, phab ntsa zais zis, dilated posterior urethra ("keyhole" kos npe), ob sab hydronephrosis los yog cortical cysts, thiab oligohydramnios. Urethral atresia yog qhov thib ob feem ntau etiology ntawm LUTO (10 feem pua) thiab tej zaum yuav zoo ib yam li lub zais zis loj heev, txawm hais tias tsis muaj qhov dilated urethra lossis keyhole tsos. Tsis zoo li posterior urethral li qub, uas tshwm sim tsuas yog rau cov txiv neej, urethral atresia tuaj yeem tshwm sim hauv ob leeg txiv neej thiab poj niam fetuses.6

Lwm yam kev mob hauv kev kuaj mob ntawm lub zais zis muaj xws li Prune-Belly syndrome (lub triad ntawm lax lossis lub plab tsis tuaj yeem; lub zais zis nyias nyias, lub zais zis; thiab cryptorchidism), aneuploidy (feem ntau trisomy 13,18, lossis 21), megacystis-megaureter syndrome (mob vesicoureteral reflux), thiab megacystis-microcolony syndrome (thin-walled zais zis tsis dilated posterior urethra; ib txwm los yog nce amniotic kua). ib lub zais zis. Ib qho tsis tu ncua cloaca (convergence ntawm zais zis, qhov quav, thiab qhov chaw mos nrog ib qho perineal qhib) kuj yuav tsum tau txiav txim siab. Cov ntaub ntawv loj tau pom tias 26.9 feem pua ​​​​ntawm kev kuaj mob ua ntej yug menyuam ntawm LUTO yog qhov tsis zoo. Feem ntau cov kev kuaj mob tom qab yug me nyuam hauv cov xwm txheej no yog vesicoureteral reflux (24.5 feem pua), cloacal dystrophy (18.9 feem pua), thiab hydronephrosis (11.3 feem pua). Hauv 5 qhov xwm txheej, qhov kev cuam tshuam tau raug daws thaum cev xeeb tub.6

Kev ntsuam xyuas caj ces

Kev kuaj mob nrog amniocentesis lossis chorionic villus sampling thiab chromosomal microarray analysis (CMA) yuav tsum tau muab thaum kuaj pom lub zais zis qhov hluav taws xob. Yog tias lub zais zis loj thiab hnyav oligohydramnios ua rau amniocentesis tsis ua tau, kev kuaj yuav ua tau los ntawm placental biopsy lossis ntawm cov kua tau los ntawm vesicocentesis. Yog tias qhov kev tshawb pom ntawm ultrasound lossis kev ntsuam xyuas cov txiaj ntsig tau pom tias muaj qhov tshwm sim tsis zoo, nws yog qhov tsim nyog los ua qhov kev soj ntsuam karyotype lossis fluorescence hauv situ hybridization, nrog rau kev xav rau CMA yog tias cov txiaj ntsig kev sim no xav tau. Yog tias muaj kev tsis sib haum xeeb ntxiv, kev sib koom ua ke, lossis tsev neeg keeb kwm ntawm ib tus mob tshwj xeeb, kev kuaj kab mob los yog exome sequencing yog qee zaum muaj txiaj ntsig vim CMA tsis pom ib leeg-gene (Mendelian) mob. Yog hais tias exome sequencing yog ua raws, tsim nyog pretest thiab posttest genetic counseling los ntawm ib tug kws kho mob tau ntsib nyob rau hauv cov complexity ntawm genomic sequencing yog pom zoo. Tom qab kev sab laj kom raug, kev tshuaj ntsuam xyuas DNA tsis muaj cell yog ib qho kev xaiv rau cov neeg mob uas tsis muaj kev ntsuam xyuas kev ntsuam xyuas tshwj xeeb yog tias muaj kev xav tias muaj mob aneuploidy.

Pregnancy and Delivery Management

Muab qhov kev ntsuas tsis zoo cuam tshuam nrog LUTO, kev txiav cev xeeb tub yuav tsum tau muab. Sib koom kev txiav txim siab ntawm tus neeg mob yuav tsum tau muaj kev ntsuam xyuas zoo thiab kev tawm tswv yim ntau yam txog kev kwv yees. Rau cov neeg mob uas lawv cev xeeb tub mus ntxiv, serial vesicocenteses tau raug qhia los ntsuas lub raum ua haujlwm ntawm lub raum los pab txiav txim siab seb qhov kev cuam tshuam ntawm fetal yuav tsum tau ua li cas, txawm hais tias muaj kev tsis sib haum xeeb txog lawv cov txiaj ntsig raws li cov cim ntsuas.7 Cov kua dej ntawm lub zais zis raug tshem tawm tag nrho ob lossis peb zaug. ua ntu zus los ntsuas cov zis electrolytes thiab qib ntawm lub zais zis refilling. Ib txwm muaj txiaj ntsig rau cov zis hauv plab yog raws li hauv qab no: sodium<100 mg/dL, chloride<90 mg/ dL, osmolarity<200 mOsm/L, calcium<8 mg/dL, total protein<20 mg/dL, and beta-2-microglobulin<4 mg/dL.8 After the first vesicocentesis, a subsequent ultrasound examination can determine whether the bladder refills. The absence of a bladder refill usually indicates severe renal dysfunction, and no further vesicocenteses are recommended.7

Ib qho kev ua haujlwm rau LUTO nrog kev pom zoo ntawm kev kho tus menyuam hauv plab tau raug tsim.7 Cov kev cuam tshuam fetal muaj xws li cystoscopy, vesicoamniotic shunt, lossis amnioinfusion. Cystoscopy tuaj yeem tso cai rau kev kuaj mob thiab kev kho mob los ntawm kev qhia txoj kab hla ntawm cov urethra lossis laser ablation ntawm posterior urethral li qub. Hauv PLUTO (Percutaneous vesicoamniotic shunting for fetal Lower Urinary Tract Obstruction) sim, ib qho vesicoamniotic shunt tsis tau ua kom muaj sia nyob mus txog 28 hnub piv nrog kev tswj hwm kev tswj hwm hauv kev tsom mus rau kev kho mob tab sis tau nce kev ciaj sia raws li kev kho mob tiag tiag. Kev mob ntshav qab zib thiab kev tuag tau siab heev nyob rau hauv ob pawg, thiab muaj tus nqi siab ntawm cov teeb meem shunt.9 Serial amnioinfusions tau raug npaj los ua ib qho kev xaiv kom muaj sia nyob hauv cov xwm txheej hnyav los ntawm kev txo qis kev pheej hmoo ntawm pulmonary hypoplasia, txawm tias cov ntaub ntawv raug txwv, thiab ntxiv. kev tshawb fawb yog xav tau los txiav txim lub luag haujlwm tsim nyog rau qhov kev cuam tshuam no.10

Cov niam txiv uas xav kom resuscitation tag nrho yuav tsum xa mus rau ntawm ib lub chaw uas muaj qib IV neonatal intensive care unit (NICU). Feem ntau, hom kev yug me nyuam yuav tsum yog raws li cov kev qhia obstetrical ib txwm muaj thiab cov niam txiv qhov kev nyiam txog kev resuscitation thaum mob hnyav. Kev npaj ua ntej yug me nyuam rau shunt lub zais zis tsis tau pom tias muaj txiaj ntsig.

Kev kwv yees

LUTO muaj feem cuam tshuam nrog kev loj hlob ntawm fetal thiab perinatal morbidity thiab kev tuag. Qhov kev tshwm sim phem tshaj plaws yog pom thaum ntxov, hnyav, ntev oligohydramnios nrog kev cuam tshuam pulmonary hypoplasia.11,12 Lwm cov tsos mob tsis zoo muaj xws li lub raum parenchymal abnormalities thiab fetal urinalysis. Feem pua ​​​​ntawm cov neeg mob uas muaj cov kab mob hauv lub raum tom qab yuav tsim cov kab mob hauv lub raum kawg thiab yuav tsum tau lim ntshav thiab hloov pauv.13 Cov neeg mob no yuav tsum tau nyob ntev NICU, feem ntau xav tau lub raj gastrotomy rau ob peb xyoos, thiab muaj kev kis kab mob thiab kho tshuab lim ntshav tsis ua haujlwm. Tsis tas li ntawd, tom qab cov urethral li qub tuaj yeem ua rau lub zais zis puas tsuaj, thiab tus menyuam yuav tsum tau siv cov catheterization huv si los yog zais zis kom ua tiav qhov txuas ntxiv tom qab yug los thiab thoob plaws lub neej.

Cov ntsiab lus

Fetal LUTO yog tus cwj pwm los ntawm lub zais zis loj, lub zais zis tuab, thiab hydronephrosis. Nws feem ntau tshwm sim los ntawm posterior urethral li qub. Fetal LUTO tuaj yeem ua rau lub raum tsis zoo rau kev loj hlob thiab pulmonary hypoplasia thiab cuam tshuam nrog kev mob perinatal siab thiab kev tuag. Vesicocentesis thiab kuaj caj ces yuav tsum tau muab los ntsuas qhov muaj peev xwm ntawm kev cuam tshuam fetal, txawm tias qhov kev cuam tshuam zoo thiab qhov tshwm sim tsis meej. Cov kev cuam tshuam uas tau tshaj tawm muaj xws li cystoscopy nrog lossis tsis muaj ablation ntawm lub valve, vesicoamniotic shunting, lossis amnioinfusion. Txawm hais tias muaj kev cuam tshuam, qhov kev kwv yees feem ntau tsis zoo, nrog rau cov kab mob pulmonary hypoplasia, cov kab mob hauv lub raum kawg, thiab lub zais zis tsis ua haujlwm.

REFERENCES

1. Sebire NJ, Von Kaisenberg C, Rubio C, Snijders RJ, Nicolaides KH. Fetal megacystis ntawm 10-14 lub lis piam ntawm cev xeeb tub. Ultrasound Obstet Gynecol 1996; 8: 387–90.

2. Liao AW, Sebire NJ, Geerts L, Cicero S, Nicolaides KH. Megacystis ntawm 10-14 lub lis piam gestation: chromosomal defects thiab tshwm sim raws li lub zais zis ntev. Ultrasound Obstet Gynecol 2003; 21: 338–41.

3. Kagan KO, Staboulidou I, Syngelaki A, Cruz J, Nicolaides KH. Lub 11- 13-lub lim tiam scan: kuaj mob thiab qhov tshwm sim ntawm holoprosencephaly, exomphalos, thiab megacystis. Ultrasound Obstet Gynecol 2010; 36:10–4.

4. Taghavi K, Sharpe C, Stringer MD. Fetal megacystis: kev tshuaj xyuas zoo. J Pediatr Urol 2017; 13:7–15.

5. Maizels M, Alpert SA, Houston JT, Sabbagha RE, Parilla BV, MacGregor SN. Fetal bladder sagittal length: ib qho yooj yim saib los soj ntsuam ib txwm thiab loj fetal zais zis loj, thiab kwv yees qhov tshwm sim ntawm kev kho mob. J Urol 2004; 172: 1995–9.

6. Malin G, Tonks AM, Morris RK, Gardosi J, Kilby MD. Congenital Lower Urinary Traction Obstruction: Kev Tshawb Fawb Txog Kev Tshawb Fawb Txog Kev Tshawb Fawb. BJOG 2012; 119:1455–64.

7. Ruano R, Dunn T, Braun MC, Angelo JR, Safdar A. Lower urinary tract obstruction: fetal intervention based on prenatal staging. Pediatr Nephrol 2017; 32: 1871–8.

8. Abdennadher W, Chalouhi G, Dreux S, et al. Fetal urine biochemistry ntawm 13-23 lub lis piam gestation nyob rau hauv qis urinary tract obstruction: cov txheej txheem rau inutero kev kho mob. Ultrasound Obstet Gynecol 2015; 46: 306–11.

9. Morris RK, Malin GL, Quinlan-Jones E, et al. Percutaneous vesicoamniotic shunting versus conservative management for fetal lower urinary tract obstruction (PLUTO): ib qho kev sim randomized. Lancet 2013; 382: 1496–506.

10. Haeri S, Simon DH, Pillutla K. Serial amnioinfusions rau fetal pulmonary palliation hauv fetuses nrog raum tsis ua haujlwm. J Matern Fetal Neonatal Med 2017; 30:174–6.

11. Kilbride HW, Yeast J, Thibeault DW. Txhais cov kev txwv ntawm kev ciaj sia: tuag pulmonary hypoplasia tom qab ib nrab lub hlis trimester ntxov rupture ntawm daim nyias nyias. Am J Obstet Gynecol 1996; 175:675–81.

12. Nakayama DK, Harrison MR, de Lorimier AA. Prognosis ntawm posterior urethral li qub tshwm sim thaum yug los. J Pediatr Surg 1986; 21:43–5.

13. Morris RK, Kilby MD. Lub raum ntev thiab cov txiaj ntsig neurodevelopmental tshwm sim hauv cov menyuam mos nrog LUTO, nrog thiab tsis muaj kev cuam tshuam fetal. Early Hum Dev 2011; 87:607–10.

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