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

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

Intracranial Ultrasound Abnormalities and Fetal Cytomegalovirus Infection: Report of 8 Cases and Review of the Literature

Objectives: The aim of this study was to evaluate fetal intracranial and other ultrasonographic findings in cytomegalovirus (CMV) infection. Methods: Data on amniotic fluid CMV-DNA-PCR-positive pregnancies detected in our institution between January 2006 and June 2009 were reviewed retrospectively. Fetal biometric measurements, fetal anatomy, amniotic fluid volume, placental thickness and texture were analyzed for abnormalities. Results: Eight fetuses were diagnosed with congenital CMV infection during the study interval. Their mean gestational age at diagnosis was 25.8 weeks (range: 23-29). All fetuses had intracranial abnormalities; increased periventricular echogenicity (n = 7), ventriculomegaly (n = 5), intracranial calcifications (n = 4), intraventricular adhesions (n = 4), thalamic hyperechogenicity (n = 3), mega cisterna magna (n = 3), lissencephaly (n = 2), vermian defect (n = 2) and cerebellar cyst (n = 1). All of them had accompanying extracranial findings, including hyperechogenic bowel (n = 6), cardiomegaly (n = 3), pericardial effusion (n = 2) and hepatosplenomegaly (n = 1). Intrauterine growth retardation was detected in 3 cases. Five pregnancies were terminated, and 1 intrauterine death occurred. The remaining 2 delivered vaginally at term. One of the live-born babies suffers from tetraparesis, mental retardation and autism, and the other has mild hemiplegia. Conclusions: The spectrum of sonographic findings may vary widely in patients with congenital CMV infection in the prenatal period. CMV should be kept in mind in differential diagnosis, particularly in fetuses with intracranial sonographic findings such as ventriculomegaly, calcifications, intraventricular adhesions and increased periventricular echogenicity. Copyright (C) 2011 S. Karger AG, Base

Screening for fetal chromosomal abnormalities with nuchal translucency measurement in the first trimester.

Objective:To describe the detection rate of first-trimester chromosomal abnormality screening with nuchal translucency (NT) measurement and maternal age in our population. Methods: We have screened the fetuses between 11 to 14 weeks' gestation according to the Fetal Medicine Foundation's (London) instructions and used the FMF's software to assess the risk based on maternal age, crown-rump length (CRL) and NT. Fetal karyotyping was offered when screening for Down syndrome identified a risk greater than 1 in 300. Sensitivity and false-positive rates were calculated for different cut-offs. Results: Pregnancy outcome was obtained from 4,598 babies of 4,365 mothers. The median maternal age of the 4,365 women was 28.2 +/- 5.3 (range 15-47) years, and the median fetal CRL was 65.4 +/- 9.4 (range 45-81) mm. There was risk estimate of 1 in 300 in 214 fetuses (4.7%). Chromosomal abnormalities were identified in 32 fetuses, including 19 cases of trisomy 21, and 13 cases of other abnormalities. The sensitivity using NT and maternal age in detecting trisomy 21 with a cut-off 1 in 300 was 73.6% (14/19) with a false-positive rate of 4.7%. At a false-positive rate of 3%, with a cut-off level 1 in 210, the detection rate was 73.6%. The detection rate for all chromosomal abnormalities with a cut-off level 1 in 300 was 68.8% (22/32) at a false-positive rate of 4.7%. Conclusion: The first-trimester screening for chromosomal anomalies with NT measurement, when carried out according to the accepted standards of quality, is useful. Copyright (c) 2006 S. Karger AG, Basel

Conservative treatment of an early ectopic pregnancy in a cesarean scar with systemic methotrexate - case report

Purpose of investigation: Pregnancy implanted in a cesarean scar is rare, and is a life-threatening condition due to high risk of uterine rupture, hemorrhage, hysterectomy, and maternal mortality. Case report: We describe a 26-year-old woman who presented with five weeks of amenorrhea and a serum hCG level of 10,440 mIU/ml. Transvaginal sonography revealed a gestational sac of 15 x I I mm containing a yolk sac located in a previous cesarean scar. She was successfully treated conservatively with multi-dose methotrexate. No side-effects were encountered. The serum hCG levels were undetectable in 58 days. The patient had normal menstrual cycles afterwards. Conclusions: In the view of increasing cesarean rates, healthcare professionals should be aware of the possibility of a scar pregnancy and the potentially life threatening sequelae. Early diagnosis by transvaginal sonography can improve outcome and minimize the need for emergent surgery. Conservative treatment with systemic methotrexate is an effective option in selected patients

Serum microRNA expression in pregnancies with preeclampsia

Preeclampsia continues to be a mortal disease of pregnant women throughout the world. Recently, geneticists, allied with obstetricians, have opened new frontiers. MicroRNAs (miRNAs) are members of a class of small, noncoding RNA molecules. They are critical posttranscriptional regulators of gene expression. We extracted circulating miRNA from maternal plasma and quantified mir152 and mir-210. We found up-regulated miR-210 levels as well as down-regulated mir-152 levels in preeclampsia patients. We propose that detection of increased mir-210 levels in maternal serum could be used to improve prediction methods for noninvasive prenatal diagnosis of preeclampsia