ABSTRACT
PURPOSE OF THE STUDY: Chromosomal aneuploidies are major causes of perinatal death and childhood handicap. Awareness about screening and prenatal diagnosis for these disorders among obstetricians and primary care physicians is increasing. Since invasive tests like amniocentesis or chorionic villus sampling (CVS) are associated with a risk of miscarriage these tests should be carried out judiciously in pregnancies considered to be at high risk for aneuploidies and other genetic disorders. The purpose of our study was to examine the patterns, trends and outcomes of the various screening procedures and invasive tests results. METHODOLOGY: Retrospective observational study done over a period of 3 years and one month including 433 pregnant women with high risk for genetic disorders undergoing invasive prenatal testing like chorionic villus sampling, amniocentesis or cordocentesis. Data were collected from our department records regarding the maternal age, indication for invasive testing, past obstetric history, family history of genetic syndromes, ultrasound findings in the current sonographic examination and the results of the tests done. Any immediate or late complications of the procedure if any were telephonically addressed. RESULTS: A total of 436 procedures on 433 patients (418 singleton,12 single fetus of twin, 3 both fetuses of twins) were done out of which 281 were amniocentesis(64.4%), 153 were chorionic villus sampling (35.1%) and 2 were cordocentesis(< 1%). Of the 436 procedures, 373(85.5%) were done for positive screening tests for chromosomal aneuploidies and 63(14.4%) were done for previous history of genetic syndromes. The positive predictive value of biochemical marker alone was around 2.7% and higher around 13% for a combined first trimester or a second-trimester screen along with ultrasound abnormalities. The higher the biochemical risk does not translate into higher chance of chromosomal abnormality. Nineteen percentage of fetuses with NT above 95th centile had chromosomal abnormality. Twenty-one percentage of fetuses with absent nasal bone in our study had trisomy 21. CONCLUSION: Aneuploidy screening is the most common indication for prenatal invasive testing with dual marker combined with nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow providing the best detection rates. The chance of an affected fetus in a patient with aneuploidy screen positive overall is only 6.7%.
ABSTRACT
INTRODUCTION: With the advent of assisted reproductive techniques, multi-fetal pregnancies are on the rise. While caesarean section is the defined mode of delivery for triplets and higher order pregnancies, the picture for twin delivery is not so clear. While a trial for vaginal delivery is attempted, the second twin is considered vulnerable to complications. Whether this translates into worsened perinatal outcomes is not well defined. AIM: To study the perinatal outcome and to identify the various factors influencing the perinatal outcome of second twin with respect to mode of delivery. MATERIALS AND METHODS: Data was collected from hospital birth records regarding the mode of delivery of viable twins (period of gestation >28 weeks) and outcome of second twin with respect to APGAR scores, NICU stay, neonatal morbidity and mortality, over a period of 12 months. RESULTS: Of the 93 pairs of twins delivered, in 21(22.6%) pregnancies both twins were delivered vaginally, in 70(75.2%) pregnancies both were delivered by caesarean section and in 2 (1.8%) pregnancies 1st twin was delivered by vaginal route and 2nd by caesarean. In the vaginal delivery group, 85.7% times both twins were in vertex position. In the caesarean group, vertex/non-vertex (38.57%) was the most common presentation followed by non-vertex /non-vertex (25.71%) and vertex/vertex (24.28%). Comparing the perinatal outcome of second twin in both groups, the odds for APGAR score ≤7 was 3.385 times (OR-3.384, 95% CI 1.2099- 9.4684, p=0.02) in the vaginal group compared to the caesarean group. There was no association (OR-1.054, 95% CI 0.3344- 3.3268, p=0.9) between neonatal morbidity of second twin compared to mode of delivery. All 3 perinatal deaths were in the vaginal group (all between 28-32 weeks of gestation). CONCLUSION: There is an increased preference for caesarean delivery in twin pregnancies except in cases where both the twins are in vertex position and not associated with any other maternal or fetal complication. However, the caesarean mode of delivery does not influence neonatal morbidity in second twin, except when the 1 minute APGAR score is ≤7.
