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OBJECTIVE Hemivertebra is a rare congenital spinal anomaly where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We aimed to determine the incidence and clinical characteristics of hemivertebra. PATIENTS AND METHODS We present three fetuses with a prenatal ultrasonographic(More)
Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and(More)
We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this(More)
The WNT-signaling pathway plays a major role during mammalian embryogenesis. We report a novel autosomal-recessive syndrome that consists of female to male sex reversal and renal, adrenal, and lung dysgenesis and is associated with additional developmental defects. Using a candidate-gene approach, we identified a disease-causing homozygous missense mutation(More)
Liberalization of abortion laws in several US states (e.g., New York and California) coincided with the development of prenatal techniques, which diagnose chromosomal abnormalities and biochemical disorders. Increased use of prenatal diagnostic services has not been accompanied by adequate examination of the decision making process women undergo when(More)
This study was undertaken to determine if parental decisions to continue or terminate following the diagnosis of a cytogenetic abnormality have changed over the past 8 years at the same center. Parental decisions in 310 prenatal chromosomal abnormalities were stratified by procedure (chorionic villus sampling [CVS] vs. amniocentesis) and the severity of the(More)
Intrauterine treatment of fetal cerebral ventriculomegaly has been largely abandoned, as the results have been disappointing compared with those of standard neonatal treatment. However, we suggest that the natural history of ventriculomegaly diagnosed in utero has not been studied adequately and that fetal surgery may have a role in selected patients. We(More)
We measured copper and zinc in serum (n = 82) and tumor tissue (n = 41) from women with a palpable pelvic mass, admitted for suspected ovarian tumor. In serum, copper was increased and zinc decreased in the group (n = 40) subsequently proven to have a malignant ovarian tumor. The mean copper/zinc ratio in this group was 2.30 (SD 0.41), significantly (p less(More)
OBJECTIVE Intrauterine growth retardation associated with fetal chromosome anomalies is usually documented on ultrasonography late in the second trimester. However, we believe and attempt to document here that the impact of aneuploidy on fetal growth is evident much earlier (i.e., the aneuploid fetus may appear smaller than dates on ultrasonography even in(More)
OBJECTIVE To determine the rate of spontaneous fetal demise after heartbeats are demonstrated in multiple pregnancies conceived after IVF-ET. DESIGN Retrospective case series. SETTING University-based IVF-ET program. PATIENTS Eighty-one patients in whom initial transvaginal ultrasound (US) study, performed at 5 to 6 weeks of gestation, identified more(More)