Prenatal diagnosis of complete atrioventricular septal defect with truncus arteriosus

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography.     

Prenatal diagnosis of coarctation of the aorta with ventricular septal defect: A case report

Objective

To present an accurate prenatal diagnosis of coarctation of the aorta with ventricular septal defect and to illustrate how early diagnosis in prenatal period with proper referral and counseling can optimize management.

Prenatally evolving ectopia cordis with successful surgical treatment

Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated with EC are ventricular septal defect, atrial septal defect, and tetralogy of Fallot. EC and additional anomalies usually lead to intrauterine death. The possibility and efficacy of surgery in a surviving neonate depends on the degree of EC, coexisting congenital heart defects and extracardiac malformations. We present a case of prenatally diagnosed isolated EC diagnosed in the first half of pregnancy. After counseling, the patient decided to continue her pregnancy which ended with a newborn baby discharged from the hospital after cardiac surgery performed just after elective cesarean section.     

Prenatal management of an allantoic cyst with patent urachus

Umbilical anomalies are a rare presentation in fetal and neonatal period. We report a case of a patent urachus with an allantoic cyst diagnosed prenatally at 14 weeks of gestation and its spontaneous course throughout ongoing pregnancy. Thoroughly ultrasound examination enabled comprehensive counselling of the parents and together with pediatricians and pediatric surgeons determining the appropriate postnatal surgical management.     

Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review

ObjectiveWolfram Syndrome (WS) is a rare autosomal recessive neurodegenerative disorder caused by mutations in WFS1 or CISD2 (WFS2). We present a rare case report of pregnancy with WFS1 spectrum disorder (WFS1-SD) in our hospital and reviewed literature to provide the management of pregnancy in these patients through multi-disciplinary cooperation.Case reportA 31-year-old (gravida 6, para 1) woman with WFS1-SD conceived naturally. During the pregnancy, she adjusted insulin intermittently to control blood glucose and monitored intraocular pressure changes under the guidance of doctors without any complications. Cesarean section was delivered at 37⁺⁴ weeks of gestation due to breech position and uterine scar and the neonatal weight was 3200 g. Apgar score 10 at 1 min, 10 at 5-min and 10 at 10 min, respectively. This rare case had a good maternal and infant outcome under multidisciplinary management.ConclusionWS is an extremely rare disease. Limited information is available on the impact and management of WS on maternal physiologic adaptation and fetal outcome. This case provide a guide for clinicians to raise awareness of this rare disease and strengthen the management of pregnancy in these patients.     

Prenatal diagnosis of abnormal course of umbilical vein and absent ductus venosus--report of three cases

An abnormal course of the umbilical vein is a rare anomaly. Its association with the congenital absence of the ductus venosus is common. We found 3 cases of an abnormal course of the umbilical vein and an absent ductus venosus. In 2 of these cases, the umbilical vein turned down and continued in the internal iliac vein, and no ductus venosus was found. One of these pregnancies was terminated. From the continued pregnancy a growth-retarded baby was born. At follow-up examinations, mild microcephaly, mildly elevated levels of ammonia, delayed speech and mild muscular hypotonia were found. In the third case, the umbilical vein turned up from the level of umbilical ring and the anterior of the liver above the diaphragma and connected directly into the right atrium. Associated complex congenital heart malformations - transposition of the great arteries, and ventricular septal defect - were diagnosed prenatally. In the umbilical vein from the placenta to the umbilical ring, the flow was low velocity continuous; from the umbilical ring to the right atrium, the flow was biphasic high velocity (90 cm/s). Such an elevated blood flow could be a sign of increased cardiac preload. The long-term neurological follow-up of babies with prenatally diagnosed venous malformations is necessary.     

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 diagnosis of ventricular aneurysm: a report of two cases and a review

Ventricular aneurysms have rarely been reported prenatally. Their prognosis is variable depending on factors such as early detection, their relative size in comparison to the ventricular cavity, growth on follow-up, and signs of cardiac failure. In view of the fact that it may be useful to report on additional cases in order to make available further information on aetiology, prognosis and neonatal management, we hereby report on two cases of ventricular aneurysm with good mid-term prognosis. One case of apical aneurysm of the left ventricle was associated with a muscular ventricular septal defect, the features of which are compatible with a fetal myocardial infarction and ventricular septal rupture in absence of coronary artery anomalies as demonstrated by catheterisation. Another case of sub-tricuspidal aneurysm of the right ventricle associated with mitral prolapse appears to be a component of diffuse connective dysplasia. Despite the early gestational age at diagnosis, the large size of the aneurysm and the associated defect, both the infants were asymptomatic in infancy prompting a conservative management.     

Case report of fetal lingual tumor – perinatal care and neonatal surgical intervention

Abstract

Fetal tumors are rare and can be difficult to diagnose in utero. In this presentation, we report an infantile hemangiopericytoma of the tongue, and also review the clinical characteristics, imaging appearances, perinatal differential diagnosis, and potential treatments of this tumors. Prenatal diagnosis of lingual fetal tumors with two-dimensional (2D) ultrasound presents a challenge to sonographers and perinatologists because these lesions are rare, usually develop in the third trimester of pregnancy and need a multidisciplinary approach. We describe an lingual tumor and moderate polyhydramnios which were prenatally detected at 31 weeks of gestation with two- dimensional ultrasound. The application of the surface mode of three-dimensional ultrasound improved the visualization of this tumor. Fetal Magnetic resonance imaging was performed to help in prenatal differential diagnostic. The option of prenatal cytology gained by amniocentesis should also be considered. To our knowledge there are no prenatal reports of similar cases. However, in our experience every information provided during the pregnancy, a correct and early diagnose of fetal condition helps to cope with the demands of perinatal management and to explain to the parents and neonatologists the findings of the case.     

Pelvic retroperitoneal cyst during pregnancy

ObjectiveThe diagnosis and treatment of adnexal mass during pregnancy is a major challenge for obstetricians. A rare case is reported of retroperitoneal cystic lesion during pregnancy.Case ReportA 31-year-old woman was diagnosed with an adnexal cystic lesion at 8 weeks of gestation and underwent laparoscopic surgery at 14 weeks of gestation. During laparoscopic surgery, the bilateral ovaries and tubes were normal, but the lesion was located on the right-side retroperitoneal area. Aspiration and enucleation were performed successfully by laparoscopy. The pathology report revealed mucinous cystadenoma. The patient had a smooth pregnancy course and delivered a healthy baby at 39 weeks of gestation.ConclusionLaparoscopic surgery is a safe procedure in the management of pregnant women with suspicious adnexal cystic lesions.     

Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics,FISH, microarray analysis and review

ObjectiveTetrasomy 9p is a rare fetal condition. Cases are usually mosaic. Here, we present a non-mosaic tetrasomy 9p case with cytogenetic analysis, fluorescence in situ hybridization, microarray data, ultrasound findings, and phenotypic presentation.Case reportA pregnancy was referred to cytogenetic analysis because of increased nuchal translucency in prenatal ultrasound at 13 weeks of gestation. Prenatal laboratory analysis revealed an extra marker chromosome with a non-mosaic pattern. Ultrasonographic findings were unilateral cleft lip and palate, micrognathia, and atrioventricular septal defect at the 17th week; additionally, ventriculomegaly, left axis deviation of the fetal heart, and a single umbilical artery were determined at the 23rd week.ConclusionPhenotypic severity in non-mosaic tetrasomy 9p widely differs depending on the chromosomal content. We recommend performing appropriate genetic tests in those pregnancies with the suspicion of tetrasomy 9p, evaluating the mosaic state, and following those cases with detailed ultrasonographic examinations.     

Successful prenatal treatment of congenital heart block with ritodrine administered transplacentally

Congenital heart block (CHB) is rather rare, and a poorer prognosis has been documented in fetuses with a ventricular rate <55 beats per minutes (bpm), in which therapeutic interventions during pregnancy have been warranted. We present a case of CHB associated with maternal anti-SSA/Ro antibody, diagnosed at 28 weeks’ gestation. Fetal echocardiography revealed atrioventricular dissociation, with an atrial rate of 170 bpm and a ventricular rate of 54 bpm. To increase the fetal heart rate, maternal intravenous ritodrine infusion was undertaken, fetal ventricular rate was rapidly increased to 65 bpm. The pregnancy successfully continued until term, and a female infant weighing 2919 g was delivered by cesarean section with Apgar scores of 8 and 8 and 1 and 5 min. The infant is now 12 months of age and growing normally on oral terbutaline without pacing. In a case of fetal heart block, maternal administration of ritodrine may be a therapeutic intervention to improve the fetal and neonatal prognosis. Received: 27 May 2001 / Accepted: 20 August 2001 Correspondence to H. Matsushita     

Chorangioma of the placenta

The authors describe a rare case of large tumour of the placenta (chorangioma) in a 25-year-old woman. The chorangioma was prenatally diagnosed by sonography in the 22nd gestational week. The course of pregnancy was not complicated. After sonographic observation of the course of the disease the woman was delivered of a child without malformations in the 39th gestational week.     

Prenatal diagnosis of fetal right and left congenital ventricular aneurysms

Aim: To describe the ultrasonographic appearance of fetal ventricular aneurysm.

Methods: Ultrasound characteristics of two cases of prenatally diagnosed fetal ventricular aneurysm were reviewed.

Results: There was one case of left ventricular aneurysm diagnosed by prenatal ultrasound at 38 weeks of gestation. Another case of fetal right ventricular aneurysm was diagnosed prenatally at 36 weeks of gestation. Both the babies expired in the immediate post-natal period.

Conclusion: Congenital ventricular aneurysm is a rare cardiac malformation characterized by protrusion or out pouching of a portion of the ventricular wall. It is important to differentiate an aneurysm from diverticulum, as the latter has favorable prognosis. The aneurysms are usually large and have broad-based communication with the ventricular cavity in contrast to diverticuli, which are small and connected by a narrow base.     

Ultrasound characteristics and outcome of prenatally diagnosed fetal cholelithiasis

Aim: To investigate ultrasound characteristics and outcome in fetuses with cholelithiasis.

Materials and methods: We report a small case series of three patients with prenatally diagnosed fetal cholelithiasis. Ultrasound features, pregnancy outcome and neonatal follow-up are presented and discussed.

Results: Sonographic pattern associated to fetal cholelithiasis is variable. Pregnancy issue is globally good with no ominous fetal or neonatal events.

Conclusions: Prenatally diagnosed fetal cholelithiasis is a rare finding and doesn’t seem to carry an adverse effect on the pregnancy.     

Beckwith–Wiedemann syndrome with overlapping Perlman syndrome manifestation

Abstract

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome known as exomphalos-macroglossia – gigantism syndrome. Prognosis is good, prenatal diagnosis is important for pregnancy management but might be difficult due to clinical overlap with other syndromes. Perlman syndrome is an overgrowth syndrome with high perinatal mortality, most frequent antenatal findings include polyhydramnios, macrosomia, visceromegaly, nephromegaly and foetal ascites. Authors present a case of prenatally diagnosed BWS with severe ascites as first antenatal finding and lethal course, signs more typical of Perlman syndrome. This combination of clinical signs has not been published yet and may contribute to specification of possible prenatal manifestation of BWS.     

Prenatal Detection of a Sublingual Lymphatic Malformation in a Fetus: A Rare Case

BackgroundLymphatic malformations are benign cystic lesions that, while rare, tend to affect the pediatric age group. There are no reported cases diagnosed prenatally.CaseA 28-year-old G1 woman at 34 weeks gestation was scanned for placental localization at a community ultrasound clinic. A fetal cystic, sublingual structure was identified. The patient was referred to our tertiary care centre, where a small (1.3 cm) avascular, cystic structure under the tongue of the fetus was confirmed. Antenatal course and delivery were unremarkable. The lesion resolved spontaneously with time.ConclusionThis report highlights a unique case in which a sublingual lymphatic malformation was detected prenatally during a third-trimester ultrasound.     

Ventral hernia with uterine rupture after vaginal delivery

ObjectiveVentral hernia is uncommon during pregnancy and is extremely rare in postpartum women. It leads to a life-threatening emergency.Case reportA 33-year-old woman, gravida 2 para 1, was admitted to our institute with severe abdominal pain and overdistended abdomen immediately after a full-term vaginal delivery. She had a normal prenatal course and denied having any medical and surgical history. The primipara woman with no history of abdominal surgery was diagnosed with a ventral hernia with uterine rupture after vaginal delivery. We performed an emergency laparotomy and primary repair of the uterine rupture and abdominal wall defect. An abdominal binder was provided for the postoperative period. The patient's postoperative period was uncomplicated. She was discharged from the hospital after 12 days.ConclusionIf a patient has hernia-related symptoms or complications, the diagnosis and management of the hernia should be performed as soon as possible, regardless of the onset, to decrease maternal and fetal mortality.     

Urinary tract infections in unplanned pregnancies and fetal outcome

Aim Many pregnant women are exposed to antibiotics for urinary tract infections during pregnancy. Our aim is to bring attention to antibiotherapy in unplanned pregnancies. Method Among the 511 cases followed by our 'Toxicology Information and Follow-up Service' for drug exposure during pregnancy, 101 cases, unaware of their pregnancy, had been prescribed antibiotics and urinary antiseptic drugs in the first trimester of their unplanned pregnancies. The data on the outcome of these pregnancies and the babies were evaluated in this study. Results Of the 511 cases, 101 pregnant women were exposed to nine kinds of drugs. Seventy-five cases had healthy babies; two had babies with major malformations; one had a baby with congenital hypothyroidism; five had spontaneous abortions; and eight cases underwent induced abortions. The outcomes of eight pregnancies are unknown. Two pregnancies are still continuing without any problem. One baby had a fetal renal anomaly; however, the physical examination did not reveal any other malformations. The baby died 4 hours after delivery. Another baby had atrial septal defect, a major malformation, and one baby had congenital hypothyroidism. Conclusion Urinary tract infection is one of the most frequently seen complications of pregnancy. Our study indicated that the possibility of pregnancy should be considered when prescribing antibiotics for urinary tract infections in women of reproductive age.     

Polyhydramnios as a sole ultrasonographic finding for detecting fetal hemolytic anemia caused by anti-c alloimmunization

ObjectiveThe prenatal course of a rare case with fetal anemia caused by maternal anti-c alloimmunization was reported.Case reportA 39-year-old female with anti-c and anti-E antibodies against red cells had previously experienced a stillbirth. At her present pregnancy, titers of maternal antibodies and fetal middle cerebral artery peak systolic velocity (MCA-PSV) were frequently monitored to investigate the severity of fetal hemolytic anemia. Rather than manifesting as an increase in MCA-PSV, the anemic fetus was delivered at 32 weeks and one day of gestation with a sole presentation: polyhydramnios. Neonatal hospitalization course were compatible with hemolytic anemia. The baby was discharged at 48 days of age.ConclusionThis case illustrated the complexities of dealing with maternal red cell alloimmunization during pregnancy and the limitations of noninvasive diagnostic modalities for detecting fetal anemia, and highlighted that obstetricians should refer all available clinical parameters in order to offer appropriate perinatal care.