产前超声诊断前脑无裂畸形

目的 了解产前超声诊断前脑无裂畸形(HPE)的特征,加强对此类畸形的认识. 方法回顾性分析我院2001年5月至2007年11月,产前超声诊断与疑似诊断HPE 30例,超声重点观察颅内结构、颜面部畸形及脑与面部以外的结构畸形,部分病例行染色体和产前MRI检查.结果 30例产前诊断或疑似HPE病倒中经尸检、引产后MRI或CT确诊25例,男10例,女15例;误诊5例,尸检分别为脑积水、孔洞脑和水脑.无叶型HPE 21例(产前超声与生后尸检、引产后MRI或CT一致);半叶型4例(产前MRI与产后尸检诊断).头颅大小径线改变者占83.3 0A(20/24),双顶径小于正常者占62.5%(15/24).面部以中轴部畸形多见,22例(88.0%)有面部畸形,全部有限距的变化,鼻部异常11例、中央性唇、腭裂11例.合并复杂先天性心脏病10例(40.0%).10例行脐血或羊水染色体检查,核型异常5例,其中4例有复杂先天性心脏病. 结论 产前超声检查是诊断HPE的重要方法,诊断准确率高,但对前脑无裂分型有困难,MRI对分型有肯定价值.HPE均有颅内结构异常,常伴有颜面部畸形,少数不伴有颜面部畸形.脑与面部以外的结构畸形中以复杂先天性心脏病为主.HPE与染色体异常高度相关.     

Prenatal sonographic diagnosis of Malpuech syndrome

Malpuech syndrome (MS) is a rare autosomal recessive syndrome featuring pre- and post-natal growth deficiency, mental retardation, facial dysmorphism, cleft lip and palate (typically midline or bilateral), caudal appendage, renal malformations and male genital abnormalities. A prenatal diagnosis of MS was made in this fetus based on the family history and a combination of conventional and 3D prenatal ultrasound findings. The family were consanguineous with an affected first child. Prenatal ultrasound in the second pregnancy demonstrated bilateral cleft lip and palate in association with intrauterine growth retardation on serial prenatal ultrasound scans. Dysmorphic facial features and a small penis consistent with the diagnosis were confirmed on 3D scanning. Post-natal examination of the neonate confirmed the diagnosis of MS. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome.     

Prenatal diagnosis using sonographic guided cordocentesis

Cordocentesis has been practiced as a diagnostical tool for prenatal diagnosis of intrauterine infections, hematological disorders, metabolic status of the fetus and rapid cytogenetic analysis. The performance of 198 cordocentesis is presented over 3 years of experience. A 21 gauge spinal needle is inserted via the optimal point on the maternal abdomen under real-time ultrasonic guidance into the insertion of the umbilical cord in the placenta. Successful cordocentesis were achieved in 98.5% of the cases. Termination of pregnancy was directly related to the procedure in only 1%. Hematoma surrounding the puncturing site was demonstrated in one case, but without damage to the fetus. In our series the main indication for performing cordocentesis was the need for rapid karyotyping. The use of fetal lymphocytes for chromosomal analysis offers a rapid and a reliable method for routine clinical demands. The availability of a rapid chromosomal analysis offers a considerable advantage in pregnancies of advanced gestational age. In those pregnancies it appears to be most important to have a rapid diagnosis where anatomical structural anomalies are associated with chromosomal malformations in up to 30%. The metabolic status of the fetus is considered in either acute distress or in cases of suspected sub-optimal metabolic hemostasis, where IUGR or oligohydramnios are demonstrated. Cordocentesis, even though is a new technique, turns to play a major role in modern perinatology. The possibility of a direct rout to fetal blood vessels early during the pregnancy bears the tremendous potential of early diagnosis and treatment.     

Prenatal diagnosis of fetal cephalocele: a sonographic spectrum

We present the findings in a series of 15 fetuses diagnosed as having a cephalocele. Eleven cephaloceles were located in the occipital region and two each at the vertex and the frontonasal region. Eleven fetuses were diagnosed before 24 week's gestation. Nine families opted for an interruption. Of the two fetuses that went to term, one had a benign meningocele and is growing normally at 18 months, the other died in the neonatal period of associated cardiac anomalies. Of the four fetuses diagnosed after 24 weeks, one is normal (after surgery) at 9 months, two are severely handicapped, and one died in the immediate postpartum period.     

Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings

Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, cafe-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We describe two cases in which second-trimester sonographic findings led to parental carrier testing for FA-C and subsequent prenatal diagnosis of affected fetuses.     

Prenatal sonographic diagnosis of congenital hiatal hernia

OBJECTIVES: To report a rare case of congenital hiatal hernia illustrating the importance of its prenatal diagnosis as well as to discuss the prenatal sonographic criteria. CASE REPORT: A case of congenital hiatal hernia was diagnosed by ultrasound at 33 weeks of gestation. After a normal second-trimester morphologic ultrasound examination, a hypoechogenic mass was detected in the posterior mediastinum juxtaposed to the vertebral body and seemed to be in continuity with the intra-abdominal stomach bubble. Congenital hiatal hernia was suspected mainly because of the dynamic position of the stomach during the examination, without mediastinal shift, and normal appearance of the diaphragm on parasagittal sections of the thorax. Postnatal management was planned with no urgency and surgery was successfully performed, confirming the diagnosis. CONCLUSION: This rare case illustrates the importance of prenatal diagnosis of congenital hiatal hernia for prenatal counseling and postnatal management. The ultrasound criterion for prenatal diagnosis is the presence of a herniated stomach in the posterior mediastinum, sometimes having a dynamic position during examination, with no mediastinal shift associated with normal diaphragm appearance on parasagittal sections of the thorax.     

Prenatal sonographic diagnosis of thanatophoric dwarfism.

A case of thanatophoric dwarfism is reported in a 35-year-old woman. The diagnosis was made at 34 weeks gestation by ultrasound. Marked shortening of the extremities, macrocephaly, narrow thorax and polyhydramnios were observed. The importance of routine ultrasound screening in pregnancy is emphasized, since such malformations can be detected prenatally.     

Prenatal sonographic findings of massive lower extremity lymphangioma.

A massive lymphangioma was detected sonographically in the lower extremity of a fetus at 28 weeks' gestation. On ultrasound study, the mass had multiple cysts and extended from the left lower abdomen to the left knee. The differential diagnosis and obstetric management following prenatal diagnosis of a fetal lower extremity mass are presented.     

Prenatal sonographic findings in a case of Varadi-Papp syndrome

OBJECTIVES: We aim to describe a case with oral-facial-digital syndrome type VI (OFDS VI) or Varadi-Papp syndrome where the only prenatal findings were cleft lip and palate and a primum type atrial septal defect (ASD). METHODS: A 24-year-old pregnant woman, gravida 1 para 0, attended the prenatal clinic for a routine visit at 16 weeks of gestation. Her medical and family history was unremarkable. There was no history of consanguinity, drug or teratogen exposure. Her triple screening test and other routine biochemical and haematological blood tests did not reveal any abnormal results. During routine prenatal sonographic examination at the 16th gestational week, cleft lip and palate including secondary palate on the right side of the face was detected and ASD was suspected. RESULTS: After delivery, prenatally diagnosed cleft lip and palate and primum ASD were confirmed. Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad nasal tip, intraoral frenula and lobed tongue, shawl scrotum and duplicated nail of the index fingers of both hands were also observed. Radiological examination showed partial agenesis of the corpus callosum and partially duplicated terminal phalanx of the index fingers. A diagnosis of Varadi-Papp syndrome was formulated. At one year of age, there was short stature and delayed mental and motor development. CONCLUSION: Understanding the limitations of prenatal ultrasound is very important for the genetic counselling of prospective parents, since major ultrasound findings can be associated with other minor or undetectable features.     

Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report

BACKGROUND: Klippel-Trenaunay-Weber syndrome is a rare congenital soft tissue anomaly with sporadic occurrence characterized by the triad of multiple hemangiomas, arteriovenous fistulas and unilateral limb hypertrophy. CASE: A 27-year-old, pregnant woman was referred at 31 2/7 gestational weeks. On prenatal sonography, multiloculated cystic areas involving the left side of the thorax and hypertrophy of the upper portion of the left arm were diagnosed without diagnostic findings on color flow Doppler studies of the cutaneous hemangioma. There was no progression within the remainder of the gestational period, and the neonatal outcome was good. CONCLUSION: Klippel-Trenaunay-Weber syndrome should be considered in the differential diagnosis of a fetal thoracic mass even if color flow Doppler studies of the mass are negative.     

Prenatal sonographic diagnosis of congenital sacrococcygeal teratoma and management

Teratomas are tumors containing tissues derived from all three germinal cell layers. Most teratomas arise in the sacrococcygeal region, with a reported incidence of 1/40,000 births. During labor, severe dystocia may occur in infants with large tumors if delivered vaginally, with an extremely high fetal morbidity and mortality rate. Reported is a case of a large congenital sacrococcygeal teratoma diagnosed antepartum by sonography at 36 weeks pregnancy. This sonographic finding allowed us to avoid traumatic delivery. Cesarean section was performed, with the delivery of a 4.050-g female infant with a large sacrococcygeal tumor. Resection of the sacral mass was performed on the 5th day of life. Pathologic examination showed a mature sacrococcygeal teratoma weighing 620-g, and measuring 14-cm by 11-cm by 9-cm. The infant had an uneventful recovery. This report agrees with previous reported cases in which successful management of sacrococcygeal teratomas could be achieved with accurate prenatal diagnosis, atraumatic delivery, and prompt surgical intervention. The role of sonography in the management of these cases is stressed.     

Prenatal sonographic findings in 207 fetuses with trisomy 21

OBJECTIVE: The objective was to evaluate the contribution of second trimester ultrasound examination to the prenatal diagnosis of trisomy 21 in 207 fetuses with this aneuploidy. The type and frequency of abnormal sonographic findings were determined. Possible multiple malformation patterns, characteristic of trisomy 21 were sought. STUDY DESIGN: Singleton fetuses that had prenatal sonography during the second trimester, then underwent cytogenetic evaluation in our institution, made up the study population. The sonographic findings of 207 fetuses with trisomy 21 were analyzed. RESULTS: Between 1990 and 2004, fetal karyotyping was performed in 22,150 patients for different indications. An abnormal karyotype was diagnosed in 514 cases (2.3%); among them 207 fetuses with trisomy 21 were detected (40.3%). Abnormal sonography was seen in 63.8% of the cases. Structural anomalies were detected in 28.5% of the trisomy 21 fetuses, among them cardiac defects (15.9%), central nervous system anomalies (14.5%), and cystic hygromas (6.8%) were the most common. Of the minor markers, increased nuchal translucency (28%), pyelectasis (20.3%), and shorter extremities (8.7%) were common findings. CONCLUSIONS: Appropriate diagnosis of structural anomalies, looking for relatively easily detectable minor markers and incorporating fetal echocardiography into the second trimester sonographic protocol, may increase the contribution of mid-trimester ultrasound examination to diagnosing trisomy 21.     

Iniencephaly: Prenatal diagnosis with postmortem findings

Iniencephaly is a rare but almost always lethal neural tube defect with the following cardinal features: occipital bone defect, partial or total absence of cervicothoracal vertebrae and fetal retroflexion. Iniencephaly is associated with malformations of the central nervous system, gastrointestinal and cardiovascular system. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. The present cases of iniencephaly were found to carry associated malformations such as atrioventricular septal defect and club foot. We present an iniencephaly prenatally diagnosed by sonography, in which therapeutic abortion was induced, with a review of the published literature.     

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow-up are presented.     

MRI investigation for neurofibromatosis type 1 lesions during pregnancy--a case report

BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic disorder of the nervous system that causes tumor growth on the nerves, skin changes and bone deformities, and it is reported to be associated with adverse perinatal outcome in pregnant women. CASE: We report a case of MRI investigation of a pregnant woman with a known NF1 disease who showed exacerbation of skin lesions during pregnancy. No dangerous lesions that could compromise pregnancy outcome were detected, thus allowing the pregnancy to continue to term uneventfully. CONCLUSION: MRI has strong indications for the follow-up of pregnant patients with neurofibromatosis as it can detect lesions that can serve as risk factors for pregnancy complications.