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胎儿腹部先天性异常胎儿腹部先天性异常
高雄长庚医院妇产部
蔡庆璋医师
胃肠系统
(The Gastrointestinal System)
生殖泌尿道系统
(The Genitourinary system)
胎儿腹部先天性异常
胃肠系统
(The Gastrointestinal System)
十二指肠闭锁(Duodenal atresia)
先天性小肠闭锁最常见的型态
流行率:1/10000 birth
三分之一的病人与唐氏儿相关
超音波特徵:
*Double bubble sign
*羊水量过多
预后:与是否合并其它异常有关,致死率可达15%
Duodenal atresia with "double bubble sign"
Axial image of the fetal abdomen of a third trimester fetus. The "double bubble sign" is present representing a dilated stomach and proximal duodenum. Polyhydramnios is present. The connection between the stomach and duodenum is identified in this image, confirming the diagnosis of duodenal atresia. Courtesy of Thomas Shipp, MD.
Ultrasound markers for Trisomy 21 (Down syndrome)
__Approximately one-third of fetuses with trisomy 21 have one or more sonographically detectable major structural malformations in the following systems
Cardiovascular, especially endocardial cushion defects and ventricular septal defects
Central nervous system (eg, mild ventriculomegaly)
Gastrointestinal system (eg, duodenal atresia )
Craniofacial (eg, cystic hygroma, thickened nuchal fold)
Hydrops fetalis
Other sonographic findings are considered "soft" markers for Down syndrome
These soft markers are frequently found among normal fetuses and should not be used in isolation for detecting fetuses with Down syndrome in the low risk population.
Slightly shortened humerus
Slightly shortened femur
Echogenic intracardiac foci
Echogenic bowel Pyelectasis
Hypoplasia of the middle phalanx of the fifth digit
Separation of the great toe (sandal gap toe)
Widened iliac angle
Hypoplastic nasal bone
Fetal echogenic bowel
Fetal echogenic bowel refers to increased echogenicity or brightness of the fetal bowel noted on second trimester sonographic examination
noted in up to 1 percent of second trimester sonograms and is usually associated with a normal fetus
Echogenic bowel
____________________
normal
Adverse pregnancy outcomes with second trimester fetal echogenic bowel
0 to 5
Cystic fibrosis
0 to 10
Congenital infection
0 to 17
Perinatal death*
0 to 19
Fetal growth restriction*
4 to 25
Chromosomal abnormalities
Range reported in the literature, percent
Outcome
胎便性肠阻塞(Meconium Ileus)
定义:因胎粪造成的先天性肠阻塞
发生率:1/50000births(M1:F1)
除了cystic fibrosis 为体染色体隐性遗传,其它为偶发性;与染色体异常较无相关
超音波特徵:
1)肠子扩大(dilated bowel)
2)肠回音增加(echogenic bowel)
3)羊水量增加(polyhydramnios)
理论上在肠破掉(bowel perforation)前生产可以改善预后,但时机难定
Cystic fibrosis (CF)
the most common fatal autosomal recessive disease among Caucasian populations,
frequency of 1 in 2000 to 3000 live births.
The usual presenting symptoms and signs include persistent pulmonary infection, pancreatic insufficiency, and elevated sweat chloride levels
Clinical manifestations of cystic fibrosis
Respiratory
Bronchiolitis/asthmaPseudomonas aeruginosa colonization of the respiratory tractStaphylococcal pneumoniaNasal polyposis Chronic productive cough Sinusitis Digital clubbing
Gastrointestinal
Meconium ileus Rectal prolapse Pancreatic insufficiencyDistal intestinal obstruction syndrome (DIOS) Hypoproteinemic edemaProlonged neonatal jaundiceBiliary cirrhosis with portal hypertensionVitamin deficiency states (A, D, E, K)Acrodermatitis enteropathica-like eruption with fatty acid and zinc deficiencyRecurrent pancreatitisVolvulus in fetal life
Genitourinary Bilateral absence of vas deferens Male infertility Female infertility
Othe rHypochloremic, hyponatremic alkalosisMother of child with cystic fibrosisPseudotumor cerebri
胎便性腹膜炎 (Meconium cyst /peritonitis)
定义:肠穿孔后,重复性胎便流出造成腹膜发炎,并可能形成一囊肿(meconium pseudocyst)
发生率:极罕见
发生肠穿孔的原因包括胎便性肠阻塞,小肠闭锁(65%),肠扭转(volvulus),肠套叠(intussusception)
大部分胎便性囊肿在产前会自动消失,小於25%以下的病人出生后需开刀
超音波特徵:
肠回音增加(echogenic bowel)
胎便性伪囊肿(meconium pseudocyst)
腹水(ascites)
肠子扩大(dilated bowel)
羊水量增加(polyhydramnios)
Meconium ascites
In this 20 week fetus, fetal ascites is noted in the
lower abdomen, adjacent to what appeared to be
a markedly echogenic loop of bowel.
Two weeks later, the ascites has resolved. The echogenic cystic area is still visible. After birth, imaging studies identified a meconium pseudocyst.
Meconium pseudocyst
腹裂畸形(Gastroschisis)
定义:胎儿肠子经由肚脐旁腹裂缺损而掉出
Gastroschisis refers to a full thickness defect in the abdominal wall through which evisceration of the intestines has occurred
The defect usually arises to the right of the umbilicus and is generally small (less than 2 cm) compared to the volume of eviscerated bowel.
发生率:1/4000 births(M1:F1)
与染色体异常较无相关
95%的病人在产前筛检中甲型胎儿蛋白(AFP)会增加
超音波特徵:
*胎儿小肠掉出
*若发生肠阻塞,则可能发生羊水量过多
预后:手术后超过90%以上的存活率
Transverse section of a 14-week fetus with gastroschisis
Gastroschisis 3D ultrasound
This is a 3-dimensional ultrasound examination of a fetus with
a gastroschisis at 16 weeks of gestation.
The free loops of bowel are seen floating in the amniotic fluid.
The umbilical cord is seen superior and to the left of the defec
Coexistent bowel abnormalities, such as malrotation, atresia, stenosis, and ischemia, are common. (25%)
Associated abnormalities include exstrophy of the urinary bladder, fetal growth restriction, and minor cardiac anomalies
The karyotype is usually normal if there are no associated abnormalities.
We suggest not performing routine cesarean delivery, but reserving this surgery for the usual obstetrical indications.
In the delivery room, we suggest wrapping the bowel with sterile saline dressings covered with plastic wrap to preserve heat and minimize insensible fluid loss, inserting an orogastric tube to decompress the stomach, placing peripheral intravenous access, and stabilizing the airway.
Overall survival is over 90 percent. Necrotizing enterocolitis is responsible for significant neonatal morbidity.
脐疝气(Omphalocele)
定义:胎儿内脏包含腹膜经脐裂掉出 is a median abdominal wall defect into which the abdominal contents herniate.
The defect, which is covered by amnion and peritoneum, usually occurs at the base of the umbilical cord with the cord inserting at its apex
发生率:1/4000 births(M1:F5)
25%和染色体异常相关,特别是三染色体13及18(trsomy 13,18)
2/3 的cases 合并其它的构造异常,包括先天性心脏病,无肛症,神经管缺损,兔唇,横膈膜疝气
超音波特徵:
1)膜状突出物80%内容物有肝脏,有时合并肠子
2)20%只含有肠子与液体(大部分染色体异常发生於此种形式)
3)极少数的膜状突出物会破掉
剖腹产无特别好处,除非突出物太大无法自然产
OMPHALOCELE_
_ Not containing liver_—_ A chromosomal abnormality, such as trisomy 18, 21, or 13, is present in 40 to 60 percent of fetuses with omphaloceles not containing liver
Containing liver_—_A liver-containing omphalocele encloses all or part of the liver in the omphalocele sac. Bowel and other organs may also be present in the sac. During the first trimester, the liver is homogeneous while the bowel is more echogenic. if a mass with the consistency of liver measuring greater than 5 to 10 mm in diameter is imaged within the area of physiologic midgut herniation. Fetuses with this type of omphalocele typically, but not invariably, have a normal karyotype
Associated anomalies
_ OEIS syndrome (omphalocele, exstrophy of the bladder, imperforate anus, spinal defects)
Beckwith-Wiedemann syndrome .: a group of disorders that have in common the following features: omphalocele, macroglossia, visceromegaly, and neonatal hypoglycemia.
A congenital heart defect accompanies omphalocele in as many as 50 percent of cases
Additional gastrointestinal abnormalities, genitourinary anomalies, neural tube defects, polyhydramnios, and fetal growth restriction also occur with increased frequency in these fetuses
The prevalence of omphalocele is 10 times higher in fetuses with increased nuchal translucency than in the general population, even in the presence of normal chromosomes
Transverse section of the abdomen of a 28-week fetus with an omphalocele
_____________________________________________
Omphalocele 3D ultrasound
This is a 3-dimensional ultrasound examination of a fetus with an omphalocele at 15 weeks gestation. The omphalocele sac is seen anterior to the fetal body. Note the smoothness of the outer contour of the sac
We suggest determining the fetal karyotype because of the increased risk of chromosomal abnormality in these fetuses.
We suggest serial ultrasound examination to follow fetal growth and nonstress tests to assess fetal well-being.
We suggest avoiding routine cesarean delivery of fetuses with omphalocele, but perform this surgery for usual obstetric indications.
There is no evidence that cesarean delivery improves outcome in uncomplicated omphalocele.
In the delivery room, we suggest covering the defect with gauze dressings soaked in thermally neutral sterile saline, covering the dressing with Saran Wrap, inserting an orogastric tube to decompress the stomach, stabilizing the airway to ensure adequate ventilation, and establishing peripheral intravenous access.
Overall survival is 79 percent. This high survival rate reflects the ability to diagnosis abdominal wall defects prenatally and the decision of many families to proceed with termination of pregnancy when severe or multiple anomalies are present.
膀胱外翻(Bladder Exstrophy)
定义:failure of closure of the bladder, lower urinary tract, overlying symphysis pubis, rectus muscles and skin
发生率:1/30000 births(M3:F1)
偶发性;与染色体异常较无相关
手术困难:60-80%会有失禁
超音波特徵:
胎儿膀胱消失
男性生殖器官会较前上方
脐带进入处位置较低
泄殖腔外翻(Cloacal Extrophy)
定义:合并有Omphalocele-extrophy-imperforate anus-spinal defects, (OEIS complex)
发生率:50000-200000(M2:F1)
Sporadic
Mortality rate:50-100%
超音波常见发现 :
腹壁裂
膀胱消失
神经管缺陷
生殖道异常
羊水减少
骨盆腔水瘤
肝脏肿瘤(Hepatic tumors)
发生率:1.6/1000000 births
Hepatoblastoma(M1.4;F1)
Vascular tumors(M:1.3:F1)
超音波特徵
Hemangioma & hemangioendothelioma:高回音性及血流增加的肝脏肿瘤
Mesenchymal hamartoma:蜂巢状,大小不一的囊肿
Hepatoblastoma:高度血管性,含水状(通常是血)及固体状的混和内容物
Liver metastasis:通常从neuroblastoma来,低回音性,无血管性 肿瘤
常见羊水量增加(可能与肠压迫有关)
泌尿道系统
(The Genitourinary system)
肾水肿(Hydronephrosis)
Fetal hydronephrosis (dilatation of the renal pelvis collecting system)
肾盂和肾盏的扩张,通常是输尿管阻塞的结果
发生率:1-5/1000births(M>F)
Ureteropelvic junction obstruction :肾水肿最常见的原因,70%发生於单侧
相当多的基因,染色体异常合并有肾水肿
Hydronephrosis as RPD ≥4 mm demonstrated hydronephrosis in 18 and 0 to 3 percent of fetuses with Down syndrome and normal control fetuses, respectively
Grade I: only dilatation of renal pelvis
Grade II: renal pelvis & a few calyces dilatation
Grade III: renal pelvis & all calyces dilatation
Grade IV: parachymal thinning
Society of Fetal Urology grading system for hydronephrosis
________________________________________________________________________________
Grade 0: no dilation (not shown).
Grade 1: renal pelvis is only visualized.
Grade 2: renal pelvis as well as a few, but not all, calyces are visualized.
Grade 3: virtually all calyces are visualized. Grade 4: similar to Grade 3 but, when compared to the normal centralateral kidney, there is parenchymal thinning.
Renal pelvic diameter (RPD)
_—_Although there is a lack of consensus on the threshold RPD that defines antenatal hydronephrosis, hydronephrosis is graded according to the RPD during the second and/or third trimester of pregnancy.
Mild renal pelvic dilatation, also referred to as pyelectasia, is defined by a RPD of ≥4 to 10 mm . Although most cases of mild dilatation will resolve and not have a clinical impact on neonatal renal development, there are reports of persistent cases that require postnatal intervention
In general, RPD >10 mm is associated with an increased risk of significant congenital anomalies of the kidney and urinary tract(CAKUT)
Fetuses with RPD >15 mm during the third trimester are at the greatest risk for CAKUT [4,6,9,12] .
Causes of antenatal hydronephrosis and their relative frequency
Transient — 48 percent
Physiologic — 15 percent
UPJ obstruction — 11 percent
VUR — 9 percent
Megaureter — 4 percent
Multicystic dysplastic kidney — 2 percent
Ureterocele — 2 percent
Posterior urethral valves — 1 percent
多囊性肾(Polycystic kidney)
ARPKD (previously called infantile polycystic kidney disease)
The replacement of normal renal tissue with dilated collecting tubules, resulting in symmetric renal enlargement and renal failure
发生率:20000-50000 births(M1:F1)
体染色体隐性遗传(chromosome 6P)
大部分在产前诊断出的会胎死腹中,极少数活到一岁,
超音波特徵
双侧肾脏变大
肾脏间质成高回音性
膀胱变小
羊水量减少
Polycystic kidney
ARPKD is always associated with hepatic involvement, characterized by cysts, fibrosis, and portal hypertension.
Counseling_—_Parents of a child with infantile polycystic kidney disease should be informed that each child or new fetus will have a:
One in four chance of developing the disease (although the expression of the disease may be different from that in other siblings)
One in two chance of being a carrier
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE_
_ADPKD is much more frequent than ARPKD, occurring in one in every 400 to 1000 live births
Most families have a defect on chromosome 16 (the PKD1 abnormality), while the abnormal gene is on chromosome 4 (the PKD2 locus) in most of the remaining families.
The diagnosis of polycystic kidney disease is usually established by ultrasonography which reveals diffuse hyperechogenicity, enlarged kidneys, and, in most children, cysts; these changes are usually but not always bilateral
Most affected children, however, have few or no symptoms during childhood and present as adults
多发性肾囊肿
(Multicystic Dysplastic Kidney)
定义: a congenital dysplasia of the kidneys that is characterized by large nonhomogeneous dilatations of the collecting tubules
发生率:1/5000-5000births(M>F)
新生儿最常见的囊性肾脏异常
90%合并有泌尿系统阻塞或肾脏结构异常
80%发生於单侧
单侧性通常会自动消退,两岁前会消失
双侧性严重有致命性
超音波特徵
肾脏周边有大小不一的水泡
肾脏间质高回音性
肾脏可能过大(阻塞位置较高)或过小(阻塞位置较低)
若双侧性,羊水会减少或消失
Multicystic Dysplastic Kidney
肾脏不发育(renal agenesis)
单侧或双侧肾脏的缺失
发生率:单侧:1/1000births(M1:F1)
双侧:12/100000births(M 2.5:F1)
双侧 致命
与两症候群相关(VACTERL;MURCS)
女性单侧缺失需注意生殖到之异常(双子宫)
VACTERL
Vertebral anomalies
Anal atresia
Cardiac defects
TracheoEsophageal fistula
Renal anomalies
Dx: at least 3
肾上腺血肿(Adrenal hematoma)
The result of exatravasation of blood from the vascular system into the adrenal gland
极少见
较大的出血可能造成胎儿低血压及死亡
较小的出血可能没有症状,在肾上腺处出现一钙化点
子宫内积水(Hydrocolpos)
子宫内液体的沈积(Watery fluid in the uterus)
A result of imperforated hymen,vaginal atresia,or transverse vaginal septum,
超音波发现
骨盆腔水状肿瘤(於膀胱后,直肠前)
若合并有cloacal exstrophy,膀胱与阴道会汇入同一个泄殖腔,会合并有膀胱,输尿管,或肾脏的水肿
Hydrocolpos
Supplemental Value of MRI in Prenatal Diagnosis of
Fetal Abdominal Disease
高雄长庚医院
妇产部 Dr.蔡庆璋,欧家佑,许德耀
放射诊断科 Dr.曾亮节,尤宝珠,吕镇中
Introduction
Ultrasonography:
the modality choice of prenatal screening of fetal anomalies
Benefits
-Cost effective
-Real time imaging
--Non-ionizing
-Safe to the fetus and mother
Factors influences the detection rate of ultrasound
Expertise of the examining sonographer/ physician
Equipment quality
Gestational age
Maternal obesity
Oligohydramnios
Unfavorable position of fetus
MRI in the past
First reports of prenatal MRI in mid-80''s
Major limitations
-Long acquisitions times of the standard spin-echo images(1-10min)
-Fetal motion artifacts
=>Sedation drugs
Risk to mother and fetus
Fast & Ultrafast MR
Scan times of <1 s
Decrease the amount of motion artifacts
No need for mother or fetus sedation
Advantages of MRI
Not effected by maternal obesity, oligohydramnios and unfavorable fetal position
Excellent soft tissue resolution
Scanning in multiple planes
No ionizing radiation
Safety of MRI in pregnancy
No evidence that short-term exposure to electromagnetic field harms the fetus when a field strength 10 cases(13 to 93)
Adding: 23-100% ; especially in CNS anomaly
(Additional information that was conclusive for the diagnosis)
Change of management: 13.6-39%
(Kirkinen 1996, Coletti 1996, Lair-Milan 1997,Levin 1997&1999, D''Ercole C 1998, Yamashita Y 1997,Quinn 1998,Hubbard 1999,Vimercati,Coakley 1999,Poutamo 1999& 2000)
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高雄长庚医院妇产部
蔡庆璋医师
胃肠系统
(The Gastrointestinal System)
生殖泌尿道系统
(The Genitourinary system)
胎儿腹部先天性异常
胃肠系统
(The Gastrointestinal System)
十二指肠闭锁(Duodenal atresia)
先天性小肠闭锁最常见的型态
流行率:1/10000 birth
三分之一的病人与唐氏儿相关
超音波特徵:
*Double bubble sign
*羊水量过多
预后:与是否合并其它异常有关,致死率可达15%
Duodenal atresia with "double bubble sign"
Axial image of the fetal abdomen of a third trimester fetus. The "double bubble sign" is present representing a dilated stomach and proximal duodenum. Polyhydramnios is present. The connection between the stomach and duodenum is identified in this image, confirming the diagnosis of duodenal atresia. Courtesy of Thomas Shipp, MD.
Ultrasound markers for Trisomy 21 (Down syndrome)
__Approximately one-third of fetuses with trisomy 21 have one or more sonographically detectable major structural malformations in the following systems
Cardiovascular, especially endocardial cushion defects and ventricular septal defects
Central nervous system (eg, mild ventriculomegaly)
Gastrointestinal system (eg, duodenal atresia )
Craniofacial (eg, cystic hygroma, thickened nuchal fold)
Hydrops fetalis
Other sonographic findings are considered "soft" markers for Down syndrome
These soft markers are frequently found among normal fetuses and should not be used in isolation for detecting fetuses with Down syndrome in the low risk population.
Slightly shortened humerus
Slightly shortened femur
Echogenic intracardiac foci
Echogenic bowel Pyelectasis
Hypoplasia of the middle phalanx of the fifth digit
Separation of the great toe (sandal gap toe)
Widened iliac angle
Hypoplastic nasal bone
Fetal echogenic bowel
Fetal echogenic bowel refers to increased echogenicity or brightness of the fetal bowel noted on second trimester sonographic examination
noted in up to 1 percent of second trimester sonograms and is usually associated with a normal fetus
Echogenic bowel
____________________
normal
Adverse pregnancy outcomes with second trimester fetal echogenic bowel
0 to 5
Cystic fibrosis
0 to 10
Congenital infection
0 to 17
Perinatal death*
0 to 19
Fetal growth restriction*
4 to 25
Chromosomal abnormalities
Range reported in the literature, percent
Outcome
胎便性肠阻塞(Meconium Ileus)
定义:因胎粪造成的先天性肠阻塞
发生率:1/50000births(M1:F1)
除了cystic fibrosis 为体染色体隐性遗传,其它为偶发性;与染色体异常较无相关
超音波特徵:
1)肠子扩大(dilated bowel)
2)肠回音增加(echogenic bowel)
3)羊水量增加(polyhydramnios)
理论上在肠破掉(bowel perforation)前生产可以改善预后,但时机难定
Cystic fibrosis (CF)
the most common fatal autosomal recessive disease among Caucasian populations,
frequency of 1 in 2000 to 3000 live births.
The usual presenting symptoms and signs include persistent pulmonary infection, pancreatic insufficiency, and elevated sweat chloride levels
Clinical manifestations of cystic fibrosis
Respiratory
Bronchiolitis/asthmaPseudomonas aeruginosa colonization of the respiratory tractStaphylococcal pneumoniaNasal polyposis Chronic productive cough Sinusitis Digital clubbing
Gastrointestinal
Meconium ileus Rectal prolapse Pancreatic insufficiencyDistal intestinal obstruction syndrome (DIOS) Hypoproteinemic edemaProlonged neonatal jaundiceBiliary cirrhosis with portal hypertensionVitamin deficiency states (A, D, E, K)Acrodermatitis enteropathica-like eruption with fatty acid and zinc deficiencyRecurrent pancreatitisVolvulus in fetal life
Genitourinary Bilateral absence of vas deferens Male infertility Female infertility
Othe rHypochloremic, hyponatremic alkalosisMother of child with cystic fibrosisPseudotumor cerebri
胎便性腹膜炎 (Meconium cyst /peritonitis)
定义:肠穿孔后,重复性胎便流出造成腹膜发炎,并可能形成一囊肿(meconium pseudocyst)
发生率:极罕见
发生肠穿孔的原因包括胎便性肠阻塞,小肠闭锁(65%),肠扭转(volvulus),肠套叠(intussusception)
大部分胎便性囊肿在产前会自动消失,小於25%以下的病人出生后需开刀
超音波特徵:
肠回音增加(echogenic bowel)
胎便性伪囊肿(meconium pseudocyst)
腹水(ascites)
肠子扩大(dilated bowel)
羊水量增加(polyhydramnios)
Meconium ascites
In this 20 week fetus, fetal ascites is noted in the
lower abdomen, adjacent to what appeared to be
a markedly echogenic loop of bowel.
Two weeks later, the ascites has resolved. The echogenic cystic area is still visible. After birth, imaging studies identified a meconium pseudocyst.
Meconium pseudocyst
腹裂畸形(Gastroschisis)
定义:胎儿肠子经由肚脐旁腹裂缺损而掉出
Gastroschisis refers to a full thickness defect in the abdominal wall through which evisceration of the intestines has occurred
The defect usually arises to the right of the umbilicus and is generally small (less than 2 cm) compared to the volume of eviscerated bowel.
发生率:1/4000 births(M1:F1)
与染色体异常较无相关
95%的病人在产前筛检中甲型胎儿蛋白(AFP)会增加
超音波特徵:
*胎儿小肠掉出
*若发生肠阻塞,则可能发生羊水量过多
预后:手术后超过90%以上的存活率
Transverse section of a 14-week fetus with gastroschisis
Gastroschisis 3D ultrasound
This is a 3-dimensional ultrasound examination of a fetus with
a gastroschisis at 16 weeks of gestation.
The free loops of bowel are seen floating in the amniotic fluid.
The umbilical cord is seen superior and to the left of the defec
Coexistent bowel abnormalities, such as malrotation, atresia, stenosis, and ischemia, are common. (25%)
Associated abnormalities include exstrophy of the urinary bladder, fetal growth restriction, and minor cardiac anomalies
The karyotype is usually normal if there are no associated abnormalities.
We suggest not performing routine cesarean delivery, but reserving this surgery for the usual obstetrical indications.
In the delivery room, we suggest wrapping the bowel with sterile saline dressings covered with plastic wrap to preserve heat and minimize insensible fluid loss, inserting an orogastric tube to decompress the stomach, placing peripheral intravenous access, and stabilizing the airway.
Overall survival is over 90 percent. Necrotizing enterocolitis is responsible for significant neonatal morbidity.
脐疝气(Omphalocele)
定义:胎儿内脏包含腹膜经脐裂掉出 is a median abdominal wall defect into which the abdominal contents herniate.
The defect, which is covered by amnion and peritoneum, usually occurs at the base of the umbilical cord with the cord inserting at its apex
发生率:1/4000 births(M1:F5)
25%和染色体异常相关,特别是三染色体13及18(trsomy 13,18)
2/3 的cases 合并其它的构造异常,包括先天性心脏病,无肛症,神经管缺损,兔唇,横膈膜疝气
超音波特徵:
1)膜状突出物80%内容物有肝脏,有时合并肠子
2)20%只含有肠子与液体(大部分染色体异常发生於此种形式)
3)极少数的膜状突出物会破掉
剖腹产无特别好处,除非突出物太大无法自然产
OMPHALOCELE_
_ Not containing liver_—_ A chromosomal abnormality, such as trisomy 18, 21, or 13, is present in 40 to 60 percent of fetuses with omphaloceles not containing liver
Containing liver_—_A liver-containing omphalocele encloses all or part of the liver in the omphalocele sac. Bowel and other organs may also be present in the sac. During the first trimester, the liver is homogeneous while the bowel is more echogenic. if a mass with the consistency of liver measuring greater than 5 to 10 mm in diameter is imaged within the area of physiologic midgut herniation. Fetuses with this type of omphalocele typically, but not invariably, have a normal karyotype
Associated anomalies
_ OEIS syndrome (omphalocele, exstrophy of the bladder, imperforate anus, spinal defects)
Beckwith-Wiedemann syndrome .: a group of disorders that have in common the following features: omphalocele, macroglossia, visceromegaly, and neonatal hypoglycemia.
A congenital heart defect accompanies omphalocele in as many as 50 percent of cases
Additional gastrointestinal abnormalities, genitourinary anomalies, neural tube defects, polyhydramnios, and fetal growth restriction also occur with increased frequency in these fetuses
The prevalence of omphalocele is 10 times higher in fetuses with increased nuchal translucency than in the general population, even in the presence of normal chromosomes
Transverse section of the abdomen of a 28-week fetus with an omphalocele
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Omphalocele 3D ultrasound
This is a 3-dimensional ultrasound examination of a fetus with an omphalocele at 15 weeks gestation. The omphalocele sac is seen anterior to the fetal body. Note the smoothness of the outer contour of the sac
We suggest determining the fetal karyotype because of the increased risk of chromosomal abnormality in these fetuses.
We suggest serial ultrasound examination to follow fetal growth and nonstress tests to assess fetal well-being.
We suggest avoiding routine cesarean delivery of fetuses with omphalocele, but perform this surgery for usual obstetric indications.
There is no evidence that cesarean delivery improves outcome in uncomplicated omphalocele.
In the delivery room, we suggest covering the defect with gauze dressings soaked in thermally neutral sterile saline, covering the dressing with Saran Wrap, inserting an orogastric tube to decompress the stomach, stabilizing the airway to ensure adequate ventilation, and establishing peripheral intravenous access.
Overall survival is 79 percent. This high survival rate reflects the ability to diagnosis abdominal wall defects prenatally and the decision of many families to proceed with termination of pregnancy when severe or multiple anomalies are present.
膀胱外翻(Bladder Exstrophy)
定义:failure of closure of the bladder, lower urinary tract, overlying symphysis pubis, rectus muscles and skin
发生率:1/30000 births(M3:F1)
偶发性;与染色体异常较无相关
手术困难:60-80%会有失禁
超音波特徵:
胎儿膀胱消失
男性生殖器官会较前上方
脐带进入处位置较低
泄殖腔外翻(Cloacal Extrophy)
定义:合并有Omphalocele-extrophy-imperforate anus-spinal defects, (OEIS complex)
发生率:50000-200000(M2:F1)
Sporadic
Mortality rate:50-100%
超音波常见发现 :
腹壁裂
膀胱消失
神经管缺陷
生殖道异常
羊水减少
骨盆腔水瘤
肝脏肿瘤(Hepatic tumors)
发生率:1.6/1000000 births
Hepatoblastoma(M1.4;F1)
Vascular tumors(M:1.3:F1)
超音波特徵
Hemangioma & hemangioendothelioma:高回音性及血流增加的肝脏肿瘤
Mesenchymal hamartoma:蜂巢状,大小不一的囊肿
Hepatoblastoma:高度血管性,含水状(通常是血)及固体状的混和内容物
Liver metastasis:通常从neuroblastoma来,低回音性,无血管性 肿瘤
常见羊水量增加(可能与肠压迫有关)
泌尿道系统
(The Genitourinary system)
肾水肿(Hydronephrosis)
Fetal hydronephrosis (dilatation of the renal pelvis collecting system)
肾盂和肾盏的扩张,通常是输尿管阻塞的结果
发生率:1-5/1000births(M>F)
Ureteropelvic junction obstruction :肾水肿最常见的原因,70%发生於单侧
相当多的基因,染色体异常合并有肾水肿
Hydronephrosis as RPD ≥4 mm demonstrated hydronephrosis in 18 and 0 to 3 percent of fetuses with Down syndrome and normal control fetuses, respectively
Grade I: only dilatation of renal pelvis
Grade II: renal pelvis & a few calyces dilatation
Grade III: renal pelvis & all calyces dilatation
Grade IV: parachymal thinning
Society of Fetal Urology grading system for hydronephrosis
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Grade 0: no dilation (not shown).
Grade 1: renal pelvis is only visualized.
Grade 2: renal pelvis as well as a few, but not all, calyces are visualized.
Grade 3: virtually all calyces are visualized. Grade 4: similar to Grade 3 but, when compared to the normal centralateral kidney, there is parenchymal thinning.
Renal pelvic diameter (RPD)
_—_Although there is a lack of consensus on the threshold RPD that defines antenatal hydronephrosis, hydronephrosis is graded according to the RPD during the second and/or third trimester of pregnancy.
Mild renal pelvic dilatation, also referred to as pyelectasia, is defined by a RPD of ≥4 to 10 mm . Although most cases of mild dilatation will resolve and not have a clinical impact on neonatal renal development, there are reports of persistent cases that require postnatal intervention
In general, RPD >10 mm is associated with an increased risk of significant congenital anomalies of the kidney and urinary tract(CAKUT)
Fetuses with RPD >15 mm during the third trimester are at the greatest risk for CAKUT [4,6,9,12] .
Causes of antenatal hydronephrosis and their relative frequency
Transient — 48 percent
Physiologic — 15 percent
UPJ obstruction — 11 percent
VUR — 9 percent
Megaureter — 4 percent
Multicystic dysplastic kidney — 2 percent
Ureterocele — 2 percent
Posterior urethral valves — 1 percent
多囊性肾(Polycystic kidney)
ARPKD (previously called infantile polycystic kidney disease)
The replacement of normal renal tissue with dilated collecting tubules, resulting in symmetric renal enlargement and renal failure
发生率:20000-50000 births(M1:F1)
体染色体隐性遗传(chromosome 6P)
大部分在产前诊断出的会胎死腹中,极少数活到一岁,
超音波特徵
双侧肾脏变大
肾脏间质成高回音性
膀胱变小
羊水量减少
Polycystic kidney
ARPKD is always associated with hepatic involvement, characterized by cysts, fibrosis, and portal hypertension.
Counseling_—_Parents of a child with infantile polycystic kidney disease should be informed that each child or new fetus will have a:
One in four chance of developing the disease (although the expression of the disease may be different from that in other siblings)
One in two chance of being a carrier
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE_
_ADPKD is much more frequent than ARPKD, occurring in one in every 400 to 1000 live births
Most families have a defect on chromosome 16 (the PKD1 abnormality), while the abnormal gene is on chromosome 4 (the PKD2 locus) in most of the remaining families.
The diagnosis of polycystic kidney disease is usually established by ultrasonography which reveals diffuse hyperechogenicity, enlarged kidneys, and, in most children, cysts; these changes are usually but not always bilateral
Most affected children, however, have few or no symptoms during childhood and present as adults
多发性肾囊肿
(Multicystic Dysplastic Kidney)
定义: a congenital dysplasia of the kidneys that is characterized by large nonhomogeneous dilatations of the collecting tubules
发生率:1/5000-5000births(M>F)
新生儿最常见的囊性肾脏异常
90%合并有泌尿系统阻塞或肾脏结构异常
80%发生於单侧
单侧性通常会自动消退,两岁前会消失
双侧性严重有致命性
超音波特徵
肾脏周边有大小不一的水泡
肾脏间质高回音性
肾脏可能过大(阻塞位置较高)或过小(阻塞位置较低)
若双侧性,羊水会减少或消失
Multicystic Dysplastic Kidney
肾脏不发育(renal agenesis)
单侧或双侧肾脏的缺失
发生率:单侧:1/1000births(M1:F1)
双侧:12/100000births(M 2.5:F1)
双侧 致命
与两症候群相关(VACTERL;MURCS)
女性单侧缺失需注意生殖到之异常(双子宫)
VACTERL
Vertebral anomalies
Anal atresia
Cardiac defects
TracheoEsophageal fistula
Renal anomalies
Dx: at least 3
肾上腺血肿(Adrenal hematoma)
The result of exatravasation of blood from the vascular system into the adrenal gland
极少见
较大的出血可能造成胎儿低血压及死亡
较小的出血可能没有症状,在肾上腺处出现一钙化点
子宫内积水(Hydrocolpos)
子宫内液体的沈积(Watery fluid in the uterus)
A result of imperforated hymen,vaginal atresia,or transverse vaginal septum,
超音波发现
骨盆腔水状肿瘤(於膀胱后,直肠前)
若合并有cloacal exstrophy,膀胱与阴道会汇入同一个泄殖腔,会合并有膀胱,输尿管,或肾脏的水肿
Hydrocolpos
Supplemental Value of MRI in Prenatal Diagnosis of
Fetal Abdominal Disease
高雄长庚医院
妇产部 Dr.蔡庆璋,欧家佑,许德耀
放射诊断科 Dr.曾亮节,尤宝珠,吕镇中
Introduction
Ultrasonography:
the modality choice of prenatal screening of fetal anomalies
Benefits
-Cost effective
-Real time imaging
--Non-ionizing
-Safe to the fetus and mother
Factors influences the detection rate of ultrasound
Expertise of the examining sonographer/ physician
Equipment quality
Gestational age
Maternal obesity
Oligohydramnios
Unfavorable position of fetus
MRI in the past
First reports of prenatal MRI in mid-80''s
Major limitations
-Long acquisitions times of the standard spin-echo images(1-10min)
-Fetal motion artifacts
=>Sedation drugs
Risk to mother and fetus
Fast & Ultrafast MR
Scan times of <1 s
Decrease the amount of motion artifacts
No need for mother or fetus sedation
Advantages of MRI
Not effected by maternal obesity, oligohydramnios and unfavorable fetal position
Excellent soft tissue resolution
Scanning in multiple planes
No ionizing radiation
Safety of MRI in pregnancy
No evidence that short-term exposure to electromagnetic field harms the fetus when a field strength 10 cases(13 to 93)
Adding: 23-100% ; especially in CNS anomaly
(Additional information that was conclusive for the diagnosis)
Change of management: 13.6-39%
(Kirkinen 1996, Coletti 1996, Lair-Milan 1997,Levin 1997&1999, D''Ercole C 1998, Yamashita Y 1997,Quinn 1998,Hubbard 1999,Vimercati,Coakley 1999,Poutamo 1999& 2000)
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