ABSTRACT
There is obvious confusion and overlap involving these various syndromes, i.e., Roberts syndrome, SC phocomelia, and TAR syndrome. However, the patient reported here seemed to exhibit the features of shortened upper extremities, clefting, and microbrachycephaly characteristic of Roberts syndrome. Antenatal detection of Roberts syndrome may be important in that early neonatal death can be expected. Other similar syndromes may have much longer survival. Cytogenetic abnormalities may be detected as well. It appears that routine ultrasonographic assessment of humerus length in addition to femur length may yield certain diagnoses that otherwise would be missed. The parents can be counselled concerning antenatal management including the possibility of not performing a cesarean section for some abnormal presentations.
Subject(s)
Abnormalities, Multiple/diagnosis , Prenatal Diagnosis , Ultrasonography , Adult , Cleft Palate/diagnosis , Ear, External/abnormalities , Female , Humans , Humerus/abnormalities , Hydrocephalus/diagnosis , Microcephaly/diagnosis , Pregnancy , SyndromeABSTRACT
Two cases of hypoplastic right ventricle were identified using fetal M-mode echocardiography. Follow-up studies and autopsies confirmed these findings. Both lesions were detected in women without antenatal risk factors. The indication for M-mode examination was an abnormal four-chambered view of the fetal heart obtained during ultrasound examination for common obstetric indications.
Subject(s)
Echocardiography , Fetal Heart/abnormalities , Heart Defects, Congenital/diagnosis , Prenatal Diagnosis , Adult , Female , Heart Ventricles/abnormalities , Humans , Infant, Newborn , Male , PregnancyABSTRACT
Chorioangiomas are usually small and found by careful sectioning of the placenta. In recent years ultrasonography has been used in antenatal diagnosis. Multiple and large tumors (greater than 5 cm) are associated with increases in fetal morbidity and mortality. We treated a woman who had severe polyhydramnios and a large chorioangioma with vascular channels in the tumor confirmed by Doppler studies. Daily fetal breathing was used to monitor fetal well-being.
Subject(s)
Hemangioma/diagnosis , Placenta Diseases/diagnosis , Pregnancy Complications, Neoplastic/diagnosis , Ultrasonography , Adult , Female , Humans , Infant, Newborn , PregnancyABSTRACT
Enlarged fetal kidneys are characteristic of more than one possible diagnosis. Though infantile polycystic kidney disease is probably the most well known entity and is associated with oligohydramnios, Beckwith-Wiedemann syndrome should be considered in the differential diagnosis especially if a normal or increased amount of amniotic fluid is present. The presence of an omphalocele with a normal karyotype should also arouse suspicion. This constellation of findings carries potential morbidity including macrosomia, fetal hypoglycemia, mental retardation, microcephaly, increased risk of subsequent neoplasia, and even neonatal death. Beckwith-Wiedemann syndrome may not be obvious in the newborn period.
Subject(s)
Beckwith-Wiedemann Syndrome/diagnosis , Kidney/embryology , Ultrasonography , Diagnosis, Differential , Embryonic and Fetal Development , Female , Follow-Up Studies , Humans , Infant, Newborn , Male , Pregnancy , Prenatal Diagnosis/methodsABSTRACT
Amniotic fluid OD 650 (optical density at 650 nm) greater than 0.15 has been associated with mature L/S ratios. This study compared OD 650 with the L/S ratio on 235 uncontaminated amniotic fluid specimens. Follow-up was obtained on 138 neonates delivered within 72 hours of amniocentesis. Of 124 amniotic fluid specimens with OD 650 greater than 0.15, 109 had mature L/S ratios. Only 3 of 96 neonates with OD 650 greater than 0.15 developed respiratory distress syndrome; 8 of 42 neonates with OD 650 values less than 0.15 developed it. The false-positive rate (2.1%) compared favorably with that of the L/S ratio (2.9%). A higher false-negative rate (24.6%) decreased the efficiency of OD 650 as an indicator of fetal pulmonary maturity. An OD 650 greater than 0.15 appears to be a rapid, reliable indicator of fetal lung maturity.
