Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome

A nonlethal form of multiple pterygium syndrome (MPS) was diagnosed prenatally at 16 weeks of gestation with associated Klinefelter syndrome in the same fetus. The ultrasound findings were cystic hygroma, hypertelorism, micrognathia, low-set ears, flexion contractures of upper and lower extremities and rocker-bottom foot. Genetic amniocentesis revealed a 47,XXY karyotype. After genetic counseling, the parents decided to have a therapeutic abortion. We presented this case for the purpose of further describing the early ultrasound findings and clinical features of multiple pterygium syndromes. Also, what makes our patient unique is the coincidental presence of Klinefelter syndrome with MPS. To our knowledge, this is the first case in the literature in which a 47,XXY karyotype has been found in a fetus with multiple pterygium syndrome. The importance of delineating the exact subtype of MPS and making a precise differential diagnosis becomes critical during the process of evaluation of patients with MPS.     

Prenatal ultrasonographic diagnosis of osteogenesis imperfecta

Between 1982 and 1986, osteogenesis imperfecta was diagnosed by ultrasound in seven fetuses. The known heterogeneity of osteogenesis imperfecta was confirmed by the prenatal ultrasonographic findings. Dependent on the type of osteogenesis imperfecta, the appearance of the limbs varied from severely shortened and broad, with very low echogeneity and absent acoustic shadow (type IIA), to only moderately shortened and thin, with almost normal echogeneity and acoustic shadow but clearly visible fractures causing angulation of the bone (types IIC and III). Ultrasonography offers the possibility to detect or exclude the lethal and severe forms of osteogenesis imperfecta early (type IIA) or halfway (types IIB, IIC, and III) through the second trimester. Prenatal diagnosis of the disease allows the option of elective abortion or may prevent unnecessary obstetric intervention.     

Prenatal ultrasonographic recognition of Goldenhar's syndrome

Goldenhar's syndrome is a series of malformations involving the face, either unilaterally or bilaterally. Other organs, such as the lungs, kidneys, spine, and heart, can also be involved. We report the prenatal ultrasonographic findings with regard to a fetus with multiple anomalies where Goldenhar's syndrome was not diagnosed until after birth. The importance of finding patterns of malformations is stressed to optimize the postnatal care for infants with multiple congenital abnormalities.     

Prenatal ultrasonographic diagnosis of thoracopagus conjoined twins

Conjoined twins are a rare obstetric event occurring 1/50,000 to 1/60,000 deliveries as a result of incomplete fission of the embryonic disc before the third week of pregnancy. They belong to the monochorionic-monoamniotic type of monozygotic twins and are classified according to the area of union, the most common site being the chest and upper abdomen (thoracopagus). Reported are two cases of thoracopagus twins in which the diagnosis was made prenatally by ultrasound in the second trimester of pregnancy. The most significant ultrasound findings included the demonstration of a single cardiac activity, the inability to separate the fetal bodies at their ventral portion, and a face-to-face fetal position. The pregnancies were allowed to continue until term with no significant prenatal complications, and an elective cesarean section was performed to avoid a traumatic delivery. In both cases the infants died during the first week of life because of cardiorespiratory insufficiency. The ultrasound criteria for the antenatal diagnosis of conjoined twins are reviewed, concluding that the careful ultrasound examination of all identified sets of twins, specially in those cases in which no separating membrane is demonstrated, is the cornerstone in making the prenatal diagnosis. In addition, ultrasound plays a crucial role not only in the diagnosis, but also in establishing the degree of conjoining, which is essential for planning an appropriate obstetrical and perinatal management.     

Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome.

Facial abnormalities are common in neonates with Down syndrome. This report describes nasal bone abnormalities in 3 unselected fetuses with Down syndrome detected prenatally by ultrasonography. Two of the fetuses had ultrasonographically undetectable nasal bones and 1 had a nasal bone measurement that was below the 2.5th percentile of the normal distribution for that gestational age.     

Prenatal ultrasonographic diagnosis of four cases of sacrococcygeal teratoma

Four cases of SCT, diagnosed antenatally by the authors are reported. The reasons for referal to the department, the sonographic findings, the obstetric management, the outcome for the fetus and the histologic findings are summarized for each particular case. In the first case y 23 years old primigravida was admitted to the Hospital because of hydramnious and threatened premature labour in 30 w.g. The ultrasound examination revealed an AGA fetus with y tumor mass with y mixed structure protruding from the sacrococcygeal region. Despite the tocolytic therapy two days after admission to the department y 2400 grams severely asphyxiated fetus was born. Neonatal death occurred 15 minutes after delivery. In the second case y 28 years old primigravida was referred to the hospital because of acute hydramnios in 31 w.g. The ultrasound examination revealed an AGA fetus with y predominately solid mass with calcifications, 110/120 mm in dimentions in the sacrococcygeal region. Despite the indomethacin therapy on day 4th of admission spontaneous labour started. During a vaginal examination avulsion of the presenting "mass" occurred followed by rapid exsanguination of the fetus. In the third case the anomaly was diagnosed in the second trimester and genetic counseling of the couple was offered. The karyotype of the fetus was normal but the parents chose termination of pregnancy despite the advanced gestational age (29 w.g. by that time). A 1900 gramas live female infant was born and was emergently referred to the Neonatal Surgery Department and operated on 4th day after delivery. Unfortunately the baby died 24 hours after the operation from an accident, not related to the operation. In conclusion y protocol for obsteric management of pregnancies with SCTs of the fetus is proposed by the authors.     

Prenatal ultrasonographic diagnosis of fetal scrotal inguinal hernia.

Fetal scrotal inguinal hernia was diagnosed at 33 weeks of pregnancy by ultrasonographic examination. Moving, echo-free, cystlike structures representing peristalsis within trapped loops of bowel in an abnormally enlarged scrotum were the main ultrasonographic finding. The diagnosis was confirmed post partum, and surgery was successfully carried out 4 days after delivery.     

Prenatal diagnosis of Juberg-Hayward syndrome

Juberg-Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg-Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg-Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate.     

Prenatal diagnosis of Sanfilippo syndrome

The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III prenatal assessments. During this period, the technology used by us and others (Thompson et al., 1993; Kleijer et al., 1996) in these diagnoses has undergone considerable development in evolution. Our policy to maintain a close relationship between the provision of a diagnostic service and research to achieve an overall goal of early diagnosis and effective therapy have progressed both activities.     

Prenatal diagnosis of Wiedemann-Beckwith syndrome

We report the prenatal diagnosis of Wiedemann-Beckwith syndrome in the 28th week of pregnancy in a primigravida. The cause of hospitalization was severe polyhydramnios with premature labour. Sonography revealed macrosomia, nephromegaly, cysts of adrenal glands and a striking macroglossia with opened mouth in all controls. The combination of all these symptoms suggested the prenatal diagnosis of Wiedemann-Beckwith syndrome, which could be confirmed post partum after a normal delivery in the 33rd week of pregnancy. The newborn (2700 g, 48 cm) exhibited typical features of this syndrome as moderate hypoglycemia and polycythemia in addition to the sonographic finding. Pathogenetic aspects and differential diagnosis of macrosomia are discussed.     

Prenatal diagnosis of Hunter syndrome

Sixteen pregnancies at risk for Hunter syndrome have been monitored by amniocentesis. Iduronate 2-sulphate sulphatase levels were measured in amniotic fluid, cultured amniotic fluid cells and cord blood. Thirteen of the pregnancies resulted in normal livebirths, two are continuing and one affected pregnancy was terminated. Reduced enzyme levels were observed in either amniotic fluid, cells or cord blood for four female fetuses. Such fetuses are likely to be carriers expressing reduced enzyme levels. The affected male fetus had reduced enzyme activity in amniotic fluid; insufficient cells were cultured for enzyme estimation, however no enzyme activity was detected in fetal liver after termination. Eight cord blood enzyme estimations have been performed, five confirming normal male infants.     

Prenatal diagnosis of Apert syndrome

OBJECTIVE: The role of the human fibroblast growth factor receptor (FGFR) gene family in current prenatal diagnosis and management of craniosynostosis syndromes and skeletal dysplasias is discussed. METHOD: We present the antenatal ultrasound findings, diagnosis, and management of 2 cases of Apert syndrome before and after molecular prenatal diagnosis was available. RESULTS AND CONCLUSION: Discovery of mutations in FGFR genes now allows the definitive antenatal diagnosis of Apert syndrome, other craniosynostosis syndromes, and skeletal dysplasias.     

Prenatal diagnosis of Bruck syndrome

Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23 weeks of gestation. Ultrasound findings included brachycephaly, retrognathia marked shortening and bowing of both femurs, bilateral fixed flexion of the elbows, bilateral fixed extension of the wrists and partially fixed flexion of the knees. The parents opted for termination of pregnancy. Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, whereas morphological studies of the bone tissue found no hard evidence of osteogenesis imperfecta, probably due to the early stage of pregnancy and the heterogeneity of the syndrome itself.     

Prenatal diagnosis of thalidomide syndrome

A case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy.     

The ultrasonographic diagnosis of polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is one of the most controversial endocrine diseases due to its clinical and biochemical heterogeneity. Many authors focused on the possible role of genetic, environmental and hormonal factors in the development of the syndrome, but the etiopathogenesis still remains unclear. The diagnostic criteria for the definition of PCOS are as heterogeneous as the disease itself and underwent more than one revision during recent years. Ultrasonography has been widely accepted as an important criterion for the detection of polycystic ovaries. Furthermore, Doppler flow analysis of both intraovarian and uterine arteries seems to provide an insight to the pathological state and the degree of progression of the disease. In this review, we provide the state of the art for a correct diagnosis of PCOS, pointing out the capacity of ultrasonography and color Doppler imaging in the early detection of the syndrome and the possibility to obtain additional information about its pathophysiology.     

Prenatal ultrasonographic diagnosis of diastrophic dysplasia at 13 weeks of gestation

Diastrophic dwarfism is a skeletal dysplasia that can be identified by ultrasound usually during the second trimester of pregnancy. This severe but non-lethal disorder of the cartilage can be diagnosed earlier using transvaginal sonography (TVS). We present a case of diastrophic dysplasia diagnosed at 13 weeks of gestation by TVS. The early TVS evaluation of the fetal biometric parameters and the accurate study of the morphological features of the fetal long bones and extremities allowed an early diagnosis of this rare pathology that leads to a progressive physical handicap, due mainly to severe kyphoscoliosis and arthropathies. Recently, the routine use of TVS at 11–14 weeks of gestation has permitted an earlier diagnosis to be reached of a great number of congenital anomalies. Patients at risk for skeletal dysplasia could benefit from the enhancements of ultrasound techniques. An early diagnosis of diastrophic dysplasia can be reached at the and of the first trimester of pregnancy, using TVS.