Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery

A fetus with bilateral radial aplasia was identified on routine ultrasound. The diagnosis of thrombocytopenia absent radius (TAR) syndrome was confirmed with cordocentesis. The differential diagnosis of radial aplasia and prenatal tests available to assist with management are discussed. Cordocentesis offered useful information in the management of this case for both diagnosis and in deciding the route of delivery. We believe our case represents the first prenatal diagnosis of TAR syndrome in which vaginal delivery of a liveborn infant was intentionally allowed. Caesarean delivery may not be necessary for all fetuses diagnosed with TAR 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 ultrasound diagnosis of Toriello-Carey syndrome

Toriello-Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello-Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello-Carey syndrome is feasible in the second trimester of pregnancy.     

Prenatal ultrasound diagnosis of Apert's syndrome.

A mother affected with Apert's syndrome was diagnosed by ultrasound scan at 16-17 weeks to have a fetus similarly affected. The typical features of acrocephaly and symmetrical syndactyly were seen. This is probably the first time that this condition has been diagnosed at such a gestation by ultrasound scan. The patient decided to continue the pregnancy, and intrauterine death occurred at 34 weeks. The diagnosis was confirmed by pathological examination.     

Prenatal ultrasound diagnosis of the Holt-Oram syndrome

The Holt-Oram syndrome is an autosomal dominant disorder consisting of a congenital heart defect in combination with characteristic upper limb abnormalities. This report presents the ultrasonographic follow-up of two fetuses at risk for the Holt-Oram syndrome. In the first fetus, the existence of Holt-Oram syndrome was suspected at 22 weeks of gestation; a ventricular septal defect, an atrial septal defect, and a minor skeletal defect were found. In the second fetus, no structural abnormalities were discovered until the 30th week, when a small atrial septal defect was detected. In both pregnancies, it was possible to exclude early in gestation the more severe forms of the Holt-Oram syndrome.     

Prenatal diagnosis of haemoglobin disorders by cordocentesis at 12 weeks' gestation.

Prenatal diagnosis of haemoglobin disorders is accepted to be a useful procedure to avoid births of infants with homozygous diseases. Advances in sampling and molecular techniques, such as polymerase chain reaction (PCR) and chorionic villus sampling (CVS), have made earlier and safer first-trimester prenatal diagnosis possible. However, these procedures need previous studies of at-risk couples, which can be very time-consuming when a number of different beta-thalassaemia mutations occur in the region. We describe the possibility of making a first-trimester prenatal diagnosis by cordocentesis and fetal blood analysis at the 12th week of gestation. We found no statistically significant difference (p greater than 0.05) between beta/gamma values in fetuses at the 12th and 18th weeks of gestation. In seven affected fetuses aborted at the 12th week of gestation, the diagnosis was confirmed in all cases by PCR analysis. These findings suggest that early cordocentesis could be an alternative procedure to CVS and PCR analysis.     

Prenatal ultrasound diagnosis of macroglossia in the Wiedemann-Beckwith syndrome

We report the ultrasound prenatal diagnosis at the 30th week of macroglossia in two sibs with the Wiedemann-Beckwith syndrome; the syndrome was also present in their mother. A study of high resolution chromosomes did not show any anomaly.     

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI

OBJECTIVES: To describe the prenatal imaging findings in fetuses at risk for Joubert syndrome (JS), review the literature and propose a protocol for prenatal diagnosis of JS using ultrasound and MRI. METHODS: We reviewed prenatal ultrasound and fetal MRI studies in two pregnancies at 25% recurrence risk for JS and correlated these findings with gross neuropathology in one affected fetus. RESULTS: While abnormalities such as occipital encephalocele or enlarged cisterna magna have been identified before mid-trimester, the definitive diagnosis of JS, based on core cerebellar findings, has only been possible after 17 weeks' gestation. CONCLUSIONS: With longitudinal monitoring, it is possible to diagnose JS in at-risk pregnancies before 24 weeks' gestation. On the basis of our data and review of the literature, we propose a protocol for monitoring pregnancies at risk for JS, utilizing serial ultrasounds combined with fetal MRI at 20-22 weeks' gestation to maximize the accuracy of prenatal diagnosis.     

Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis

Mullerian agenesis, commonly referred to as Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS), is a congenital defect that is most commonly associated with renal and spinal malformations. It is very rare for Mullerian agenesis to be accompanied by malformations of the extremities. In this report, we describe a 22-year-old woman with Mullerian agenesis and thrombocytopenia absent radius syndrome (TARS). We also review rare syndromes associated with Mullerian anomalies, including Mullerian hypoplasia/aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS), Roberts syndrome, Bardet-Biedl syndrome (BBS), McKusick-Kaufman syndrome (MKS), Wolf-Hirschhorn syndrome, and others. The pathogenesis of these complex malformation syndromes is not well understood as a result of their sporadic occurrence. However, some of these syndromes do follow a pattern of inheritance, suggesting that they could provide insights into our understanding of their origins. TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians LEARNING OBJECTIVES: After completion of this article, the reader should be able to review the rare congenital defects associated with Mullerian agenesis, to determine the genetic etiologies of the associated syndromes with Mullerian agenesis, and to discuss information for parental counseling related to inheritance patterns and growth and development of the affected child.     

Successful cesarean section in a gravida with the thrombocytopenia with absent radius syndrome. A case report

A 20-year-old primigravida with the autosomal recessive thrombocytopenia with absent radius (TAR) syndrome was followed in her third trimester of pregnancy. Although the platelet counts ranged from 8,000 to 30,000/microL, the patient had minimal symptoms of peripatellar ecchymoses. She presented at term with spontaneous rupture of the membranes and a double footling breech presentation. She successfully underwent low vertical cesarean section and delivery of a term, viable female infant. Management of the hemodynamic status was with blood component therapy. Antenatal ultrasonography demonstrated normal fetal extremities. Review of the literature revealed this to be the first report of cesarean section in a TAR syndrome patient. Management of coagulation problems should be individualized according to the severity of the disease.     

B超引导下的脐静脉穿刺术在产前诊断应用中的安全性研究

目的探讨B超引导下的脐静脉穿刺术在产前诊断中的成功率和安全性。方法回顾性分析1990年3月～2003年6月对2403例因各种原因在B超引导下的脐静脉穿刺术进行产前诊断的孕妇临床资料,观察穿刺手术的成功率和并发症。结果一次性穿刺成功为2368例(98．5％),二次穿刺成功为2384例(99．2%)。75．5％的孕妇可在5min内完成穿刺术,93．0％的孕妇在10min内完成穿刺术。手术并发症包括：脐带或胎盘渗血315例(13．1％),胎儿心动过缓125例(5．2％),一次性穿刺失败35例(1．5％),流产18例(0．8％),早产4例(0．2e%),绒毛膜羊膜炎2例(0．1％)。结论脐静脉穿刺术是一项较为安全而简单易行的产前诊断取材技术。     

血管前置的产前超声诊断

目的探讨血管前置的高危因素和产前超声诊断的价值。 方法回顾性分析2012年1月至2014年6月就诊于广东省妇幼保健院行产前超声检查和(或)临床诊断为妊娠合并血管前置患者的超声声像图资料,并追踪妊娠结局。 结果产前超声共检出血管前置18例,其中1例脐带先露误诊为血管前置;漏诊1例。确诊为血管前置病例共计18例,其中16例(88.9%,16/18)为单胎妊娠,2例(11.1%,2/18)为三胎妊娠;合并低置胎盘9例(50.0%,9/18),帆状胎盘8例(44.4%,8/18),副胎盘2例(11.1%,2/18),球拍状胎盘2例(11.1%,2/18),单脐动脉3例(16.8%,3/18)。18例胎儿中,早产9例(50.0%,9/18),足月产8例(44.4%,8/18),1例(5.6%,1/18)因胎儿结构异常引产。产前超声检查漏诊的1例患者,足月妊娠经阴道分娩时大出血,胎儿死亡。 结论胎盘异常是血管前置的高危因素,需重视产前超声检查,及时诊断和处理,可有效避免不良妊娠结局的发生。     

Prenatal ultrasound diagnosis of neuroblastoma

With the progress of foetal ultrasonography, diagnosis of foetal tumors can be made before birth. We report five cases of prenatally detected neuroblastoma of the adrenal glands. Diagnosis was made during the third trimester in all cases. At birth no clinical sign related to the tumor was present, and urinary catecholamines were within normal ranges. On ultrasound scans the tumor was cystic in 1 case, solid in 2 cases and of mixed echogenicity in 2 cases. All children were operated on without pre or postoperative chemotherapy. In each setting the tumor was a stage I neuroblastoma according to the Evans classification. All children are alive and disease-free with a follow-up of 32 months at 14 years.     

Prenatal ultrasound diagnosis, follow-up, and outcome of congenital varicella syndrome

OBJECTIVES: To report on a case of fetal varicella infection following the diagnosis of maternal infection at 16 weeks of gestation. METHODS: Diagnosis was based on serology testing and prenatal ultrasound, confirmed by DNA detection in amniotic fluid (Lightcycler-PCR). Serial ultrasound examinations were performed. RESULTS: Sonographic anomalies included borderline ventriculomegaly, intracerebral, intrahepatic and myocardial calcifications, limb deformities, articular effusions, and intrauterine growth retardation (confirmed postpartally). The newborn showed a severe encephalopathy and could not be stabilized sufficiently. The child died 23 days after birth. CONCLUSION: The outcome of an affected fetus may be very serious and prenatal ultrasound is a helpful tool to recognize the severity of the infection.