Gastroschisis and omphalocele: Prenatal diagnosis and perinatal management

Obstetric ultrasonography has made the prenatal diagnosis of gastroschisis and omphalocele more common. We present illustrative cases 2nd review the ultrasonographic features. Because of the increased risk of concomitant abnormalities (including trisomies) with omphalocele, full evaluation is indicated when this diagnosis is suspected. Recent perinatal approaches to delivery have favoured caesarean section. without scientific evidence that outcome is improved. Our experience. as well as a review of the literature, suggests that the outcome for vaginally delivered infants is acceptable. A prospective study of this question is needed.     

Prenatal demonstration of a cervical myelocystocele

Myelocystocele is a rare spinal cord disorder and has not been described prenatally. We report a case in which prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a posterior cervical mass which was initially thought to be a meningocele or an atypical cystic hygroma. Surgery performed at 1 day of age showed this to be a myelocystocele. Therefore, the differential diagnosis of an extracranial cystic mass in the posterior cervical region should be expanded to include myelocystoceles.     

Congenital chylothorax-prenatal ultrasonic diagnosis and successful post partum management

The prenatal diagnosis by ultrasound of congenital chylothorax is described allowing early intervention immediately after delivery. Unilateral fluid collection in the right lung with marked displacement of the heart to the left were the most prominent sonographic signs. Post partum thoracocentesis and chylus fluid drainage served as a life saving procedure.     

Listeriosis: A cause of non-immune hydrops fetalis

A case of prenatally diagnosed non-immune hydrops fetalis, that was later shown to be caused by listeriosis, is presented, and the clinical course, as well as the appropriate diagnostic and therapeutic procedures are described. We conclude, that listeriosis should be excluded, whenever a non-immune hydrops fetalis is associated with septicemia, influenza-like illness and fever of unknown origin.     

Oligohydramnios with amnio-chorionic separation at 15–16 weeks' gestation

Nine patients with oligohydramnios and amnio-chorionic separation were identified out of 7000 women who underwent a vaginal ultrasound examination at 15–16 weeks' gestation. Oligohydramnios was defined as a reduced amount of amniotic fluid, a distance of more than 1 cm between the chorion and amnion, and a good turgor of the amnion without floating membranes or intrauterine sheets. Fetal malformations were observed in all nine cases. In four of six fetuses where chromosomal analysis was available, an abnormal karyotype was found. It is concluded that oligohydramnios in the early second trimester is associated with fetal abnormality.     

Antenatal sonographic diagnosis of arthrogryposis multiplex Congenita

Arthrogryposis Multiplex Congenita (AMC) was suspected on ultrasound examination of a fetus at 30·5 weeks of gestation. The criteria for establishing this prenatal diagnosis as well as the importance of establishing the diagnosis at any gestational age are discussed. The diagnosis of AMC was confirmed at birth in this case.     

Aneuploidy and cystic hygroma detectable by ultrasound

During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY+21 and 47XX+18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.     

Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome

Routine sonography prior to genetic amniocentesis revealed the presence of a large complex mass with pulsating channels over the anterior fetal chest wall. This led to early termination of pregnancy in a fetus affected with the rare Klippel-Trenaunay-Weber Syndrome.     

Ultrasound movement patterns of fetuses with chromosome anomalies

Fetal movements were examined by ultrasound in 24 pregnancies in which an abnormal karyotype was detected in fetal cells and compared to ultrasound fetal movement patterns in normal pregnancies. The main features in fetuses with chromosome anomalies observed at 18–20 weeks of gestation are the persistence of global, jerky movements with twitches usually seen at 13–14 weeks of gestation in normal fetuses. This fetal motor behaviour is inconstant in trisomy 21. In trisomy 18 the hand deformities are easily detected.     

Meckel–Gruber syndrome: Ultrasonographic diagnosis at 13 weeks' gestational age in an at-risk case

A case of early diagnosis at 13 weeks' gestational age of Meckel–Gruber syndrome by ultrasound is reported in a patient with a 25 percent recurrence risk. The usefulness of genetic counselling and aimed echographic examination is discussed.