Kypros H. Nicolaides

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BACKGROUND Prenatal diagnosis of trisomy 21 currently relies on assessment of risk followed by invasive testing in the 5% of pregnancies at the highest estimated risk. Selection of the high-risk group by a combination of maternal age and second-trimester maternal serum biochemistry gives a detection rate of about 60%. We investigated assessment of risk by a(More)
OBJECTIVES To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. DESIGN Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived(More)
OBJECTIVE To examine the value of first trimester maternal serum free beta human chorionic gonadotrophin (beta hCG) and pregnancy associated plasma protein A (PAPP-A) as predictors of pregnancy complications. DESIGN Screening study. SETTING Antenatal clinics. POPULATION Singleton pregnancies at 10-14 weeks of gestation. METHODS Maternal serum free(More)
OBJECTIVE To examine the potential impact of combining maternal age with fetal nuchal translucency thickness and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in screening for trisomy 21 at 10-14 weeks of gestation. METHODS Maternal serum free beta-hCG and PAPP-A were measured by(More)
Current methods for prenatal diagnosis of chromosomal aneuploidies involve the invasive sampling of fetal materials using procedures such as amniocentesis or chorionic villus sampling and constitute a finite risk to the fetus. Here, we outline a strategy for fetal chromosome dosage assessment that can be performed noninvasively through analysis of placental(More)
OBJECTIVES To use multiple regression analysis to define the contribution of maternal variables that influence the measured concentration of free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), and the interaction between these covariates, in first-trimester biochemical screening for trisomy 21. METHODS(More)
BACKGROUND We recently demonstrated that the promoter of the RASSF1A gene is hypermethylated in the placenta and hypomethylated in maternal blood cells. This methylation pattern allows the use of methylation-sensitive restriction enzyme digestion for detecting the placental-derived hypermethylated RASSF1A sequences in maternal plasma. METHODS We performed(More)
BACKGROUND Previous randomized trials have shown that progesterone administration in women who previously delivered prematurely reduces the risk of recurrent premature delivery. Asymptomatic women found at midgestation to have a short cervix are at greatly increased risk for spontaneous early preterm delivery, and it is unknown whether progesterone reduces(More)
OBJECTIVE To assess the value of antenatally determined observed to expected fetal lung area to head circumference ratio (LHR) in the prediction of postnatal survival in isolated, congenital diaphragmatic hernia (CDH). METHODS Two groups of fetuses were examined. The first group included 650 normal fetuses at 12-32 weeks' gestation, and the data collected(More)
During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48%) with cleft lip and palate, in 5 of(More)