ABSTRACT
OBJECTIVE: To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free ß-human chorionic gonadotropin (fß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at a one-stop clinic for assessment of risk (OSCAR). METHODS: In total, 13,706 fetuses in 13,437 pregnancies were screened for chromosomal abnormalities during a period of 5 years. Maternal serum biochemical markers and maternal age were evaluated in combination with NT, NT + NB, NT + NB + TR, and NT + NB + TR + DV flow data in 8581, 242, 236 and 4647 fetuses, respectively. RESULTS: In total, 51 chromosomal abnormalities were identified in the study population, including 33 cases of trisomy 21, eight of trisomy 18, six of sex chromosome abnormality, one of triploidy and three of other unbalanced abnormalities. The detection rate and false-positive rate (FPR) for trisomy 21 were 93.8% and 4.84%, respectively, using biochemical markers and NT, and 100% and 3.4%, respectively, using biochemical markers, NT, NB, TR and DV flow. CONCLUSION: While risk assessment using combined biochemical markers and NT measurement has an acceptable screening performance, it can be improved by the integrated evaluation of secondary ultrasound markers of NB, TR and DV flow. This enhanced approach would decrease the FPR from 4.8 % to 3.4 %, leading to a lower number of unnecessary invasive diagnostic tests and subsequent complications, while maintaining the maximum level of detection rate. Pre- and post-test genetic counseling is of paramount importance in either approach.
Subject(s)
Chorionic Gonadotropin, beta Subunit, Human/blood , Chromosome Disorders/diagnosis , Down Syndrome/diagnosis , Nasal Bone/diagnostic imaging , Pregnancy-Associated Plasma Protein-A/metabolism , Tricuspid Valve Insufficiency/diagnostic imaging , Trisomy/diagnosis , Ultrasonography, Prenatal , Adolescent , Adult , Biomarkers/blood , Chromosome Disorders/embryology , Chromosome Disorders/pathology , Chromosomes, Human, Pair 13 , Down Syndrome/embryology , Down Syndrome/pathology , Female , Humans , Maternal Age , Middle Aged , Nasal Bone/embryology , Nasal Bone/pathology , Nuchal Translucency Measurement , Pregnancy , Pregnancy Trimester, First , Prospective Studies , Risk Assessment , Tricuspid Valve Insufficiency/embryology , Tricuspid Valve Insufficiency/physiopathology , Triploidy , Trisomy/pathology , Trisomy 13 Syndrome , Young AdultABSTRACT
Meconium aspiration syndrome (MAS) is a life-threatening respiratory disease in infants born through meconium stained amniotic fluid (MSAF). The purpose of this study was to determine risk factors for MAS in the newborns of mothers who had meconium stained amniotic fluid in labour. A retrospective study of all full-term pregnancies with MSAF from May 2003 to October 2004 was designed at a teaching hospital. Development of MAS was the primary outcome. Maternal details, mode of delivery and neonatal details (Apgar score, reassuring or non-reassuring fetal heart rate tracing and birth weight) were evaluated. During the study period, there were 2,603 deliveries of whom 302 (11.6%) had MSAF. MAS developed in 64 of these infants (21.1%). Compared with healthy neonates with MSAF, those with MAS had higher rate of non-reassuring fetal heart rate (FHR) tracing, thick meconium and Apgar score < or =5 at 5 min. The neonatal birth weight was lower in the MAS group, maternal age, parity, gestational age and mode of delivery were not significantly different in the two group. We found the severity of meconium, low Apgar score at 5 min and non-reassuring FHR tracing was associated with MAS in MSAF pregnancies.
Subject(s)
Amniotic Fluid , Meconium Aspiration Syndrome/diagnosis , Meconium , Adult , Apgar Score , Female , Gestational Age , Heart Rate, Fetal , Humans , Infant, Newborn , Retrospective Studies , Risk FactorsABSTRACT
This prospective study was designed to perform lamellar body count of amniotic fluid to evaluate fetal lung maturity. Lamellar body counts of 80 amniotic fluid samples from 80 pregnant women (28-40 weeks of gestation) were evaluated. After delivery, each infant was evaluated for any evidence of respiratory distress syndrome. Standard clinical and radiographic criteria were used to diagnose respiratory distress syndrome, and the diagnosis was confirmed by reviewing newborn records. Twenty (25%) infants delivered within 24 hours of sample collection developed RDS. Lamellar body count more than 50,000/microl predicted pulmonary maturity. Seventeen out of 20 respiratory distress syndrome cases had been predicted correctly. The negative predictive value of lamellar body count>50,000/microl was 93% and positive predictive value was 48% and the sensitivity for prediction of RDS was 85% and specificity was 70%. Lamellar body count can be used as a favourable predictor of fetal lung maturity because it is quick, simple and universally available. Also it can be used as an extremely inexpensive, reliable screening test for evaluating fetal lung maturity.
