Humerus length measurement in Down syndrome screening

Purpose of investigation: To compare the predictive values of different humeral shortness assessment methods in Down syndrome screening

Conservative management of a patient with endometrial carcinoma desiring fertility: how to inform?

Conservative management of patients with endometrial cancer who desire fertility is becoming widespread in certain circumstances. A 36-year-old women desiring fertility with early-stage endometroid type adenocarcinoma of the endometrium was treated with 160 mg/d megestrol acetate for six months. After confirmation of a normal endometrial biopsy she became pregnant spontaneously. Following an uneventful pregnancy a healthy baby at term was delivered by cesarean section. Definitive surgery was Performed. The risks and benefits of this thereupeutic approach are discussed and informing style of the patients emphasized

Prenatal diagnosis of diastematomyelia: Presentation of eight cases and review of the literature

PubMedID: 17726726Objectives: Diastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition. Methods: Records of fetuses with diastematomyelia diagnosed in our institution between January 2000 and June 2005 were collected. All liveborn fetuses were examined by a pediatric neurologist. Pre- and postnatal data were analyzed. A search was then conducted using PubMed to review previously reported cases in the literature. Results: Eight cases of diastematomyelia were diagnosed during the study interval. The mean (range) gestational age at diagnosis was 21 (13-25) weeks. The main sonographic findings were widening of the spinal canal in the coronal view and an additional echogenic focus in the posterior part of the spinal column in the axial view. The diagnosis of associated open spina bifida was made in one fetus with elevated levels of amniotic fluid ?-fetoprotein (AF-AFP) and acetylcholinesterase (AF-AChE) and the pregnancy was terminated. The other seven cases of diastematomyelia had normal levels of AF-AFP and AF-AChE and were considered isolated. One pregnancy miscarried spontaneously 1 week following amniocentesis and the remaining six were delivered at term. Review of the literature revealed 14 reports involving 26 cases of prenatally diagnosed diastematomyelia. Twelve cases had normal biochemistry and/or no additional abnormalities and all had a favorable outcome. Conclusions: When diastematomyelia is not associated with other spinal anomalies, the prognosis is favorable. Prenatal diagnosis is generally made in the second trimester but sonographic signs may be recognized as early as the first trimester. Intrauterine diagnosis of diastematomyelia should facilitate appropriate management of affected cases. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd

Prenatal Sonographic Diagnosis of Multicystic Congenital Mesoblastic Nephroma

The authors report an unusual presentation of congenital mesoblastic nephroma as a multilocular cystic renal lesion. Prenatal sonography revealed a unilateral, encapsulated, multilocular cytic mass with solid components measuring 5.7 x 5.4 x 4.3 cm in the left renal fossa. There was no increase in vascularity and no signs of hydrops fetalis. On the forth postnatal day left-sided radical nephrectomy was performed and histopathological examination revealed cellular type congenital mesoblastic nephroma. A multicystic appearance is rare as the vast majority of prenatally diagnosed congenital mesoblastic nephroma cases presented in the literature are of the classic type with solid homogenous or heterogenous appearence. (c) 2012 Wiley Periodicals, Inc. J Clin Ultrasound41:59-61, 201

Detection of fetal RHD pseudogene (RHD Psi) and hybrid RHD-CE-D-s from RHD-negative pregnant women with a free DNA fetal kit

Hemolytic disease of the newborn is a clinical condition in which maternal and paternal Rh blood group antigens are incompatible and the mother is negative for the antigen whereas the father is positive. Analysis of fetal cells recovered from maternal plasma can provide a highly sensitive prenatal diagnosis. The fetal RHD gene in plasma DNA is detected by real-time PCR amplification of two different segments of the RHD gene (exons 7 and 10). Each amplicon is revealed with specific probes. We examined 40 female blood samples to verify the specificity of RHD exons (7 and 10) amplified by real-time PCR. Thirty fetuses were predicted to be RHD-positive based on analysis of plasma DNA. Seven fetuses were predicted to be RHD-negative. One fetus was negative for RHD on exon 10, and positive for RHD on exon 7 (early gestation age); two fetuses were RHD-negative on exon 7, and RHD- positive on exon 10 (RHD-CE-D-s or RHD Psi), indicative of a maternal RHD allele. We conclude that it is necessary to analyze at least two exon regions in the RHD gene

Forehead and facial heights in Down syndrome and normal fetuses in the midtrimester of pregnancy

Objectives: To compare forehead height (FH), facial heights (FaHs) and the ratios of biparietal diameter (BPD) and femur length (FL) to these heights in midtrimester normal and Down syndrome (DS) fetuses. Methods: 150 normal and 26 DS fetuses were scanned at 15-25 weeks of gestation. At the mid-sagittal image of the fetal profile, FH, FaH, upper facial height (UFaH) and lower facial height (LFaH) were measured in millimeters with "two line distance" tool. The results were expressed as multiples of the gestation-specific normal median (MoMs) using the regression of the equation derived from normal fetuses. The ratios of BPD/UFaH, BPD/LFaH, BPD/FaH, BPD/FH, FL/UFaH, FL/LFaH, FL/FaH, FL/FH were also assessed. Results: In normal fetuses, FH and FaHs increased linearly with gestational age (GA). UFaH increased linearly from 5.2 mm at 15 weeks to 15.7 mm at 25 weeks. LFaH increased from 9.3 mm at 15 weeks to 32 mm at 25.2 weeks. FaH increased from 16 mm at 15 weeks to 39 mm at 25 weeks. FH increased from 17.7 mm at 15 weeks to 42.8 mm at 25 weeks. Only UFaH was found to be significantly smaller in DS fetuses (with a mean of 0.91 MoM, 95% CI, 0.7-1.1, p = 0.003), than in normal fetuses (1 MoM, 95% CI, 0.6-1.3). Concomitantly, none of the ratios changed with gestation and all were found to be statistically higher in DS fetuses (p < 0.05). Conclusions: UFaH, is smaller in DS fetuses compared with normal fetuses in the midtrimester of pregnancy. The ratios of BPD and FL to all heights are higher in fetuses with DS than in normal fetuses