Nuchal translucency beyond Down syndrome screening

Objective The aim of this study was to investigate the association of first trimester screening variables NT, PAPP-A and free β -hCG and birth weight, with a focus on the prediction of macrosomia. Methods The database of our Fetal Medicine Unit was searched for all singleton pregnancies who underwent first trimester Down syndrome screening. Fetuses with chromosomal or structural defects were excluded. Birth weight percentiles were derived with correction for gestational age at delivery, parity and gender. Results We included 6503 fetuses. NT was enlarged (≥P95) in 315 fetuses (4.8%). PAPP-A was low (≤P5) in 6.6%. Median birth weight was significantly lower (P41 vs. P52) in case of low PAPP-A. Macrosomia was more common (11% vs. 7%) in case of enlarged NT. Conclusions In fetuses with normal outcome first trimester PAPP-A MoM and NT MoM are significantly related to birth weight. Enlarged NT is associated with macrosomia.

[1]  E. G. Dávila,et al.  First‐trimester screening for large‐for‐gestational‐age infants , 2012, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[2]  A. Genazzani,et al.  Does nuchal translucency thickness in the first trimester predict GDM onset during pregnancy? , 2011, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

[3]  G. Visser,et al.  Prediction of macrosomia at birth in type‐1 and 2 diabetic pregnancies with biomarkers of early placentation , 2011, BJOG : an international journal of obstetrics and gynaecology.

[4]  R. Achiron,et al.  Increased nuchal translucency is associated with large for gestational age neonates in singleton pregnancies , 2011, Journal of perinatal medicine.

[5]  I. Staboulidou,et al.  Reference range of birth weight with gestation and first‐trimester prediction of small‐for‐gestation neonates , 2011, Prenatal diagnosis.

[6]  D. Wright,et al.  Prediction of Small-for-Gestation Neonates from Biophysical and Biochemical Markers at 11–13 Weeks , 2010, Fetal Diagnosis and Therapy.

[7]  K. Nicolaides,et al.  First-Trimester Prediction of Macrosomia , 2010, Fetal Diagnosis and Therapy.

[8]  S. Omar,et al.  Macrosomia is the only reliable predictor of shoulder dystocia in babies weighing 3.5 kg or more. , 2010, European journal of obstetrics, gynecology, and reproductive biology.

[9]  C. Bilardo,et al.  Increased nuchal translucency in euploid fetuses—what should we be telling the parents? , 2010, Prenatal diagnosis.

[10]  D. Tappin,et al.  Reliability of self reported smoking status by pregnant women for estimating smoking prevalence: a retrospective, cross sectional study , 2009, BMJ : British Medical Journal.

[11]  P. O’Rourke,et al.  Fetal macrosomia and pregnancy outcomes , 2009, The Australian & New Zealand journal of obstetrics & gynaecology.

[12]  E. Pajkrt,et al.  Male gender as a favorable prognostic factor in pregnancies with enlarged nuchal translucency , 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[13]  K. Nicolaides,et al.  The impact of fetal gender on first trimester nuchal translucency and maternal serum free β‐hCG and PAPP‐A MoM in normal and trisomy 21 pregnancies , 2009, Prenatal diagnosis.

[14]  J. Loeber,et al.  First‐trimester Down syndrome screening performance in the Dutch population; how to achieve further improvement? , 2009, Prenatal diagnosis.

[15]  M. Divon,et al.  Is severe macrosomia manifested at 11–14 weeks of gestation? , 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[16]  B. No̸rgaard-Pedersen,et al.  First‐trimester combined screening for Down syndrome: prediction of low birth weight, small for gestational age and pre‐term delivery in a cohort of non‐selected women , 2008, Prenatal diagnosis.

[17]  K. Nicolaides,et al.  First‐trimester biochemical markers of aneuploidy and the prediction of small‐for‐gestational age fetuses , 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[18]  E. Pajkrt,et al.  Increased nuchal translucency thickness and normal karyotype: time for parental reassurance , 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[19]  K. Spencer,et al.  First‐trimester ADAM12 and PAPP‐A as markers for intrauterine fetal growth restriction through their roles in the insulin‐like growth factor system , 2007, Prenatal diagnosis.

[20]  T. Wilkin,et al.  The gender insulin hypothesis: why girls are born lighter than boys, and the implications for insulin resistance , 2006, International Journal of Obesity.

[21]  S. Cicero,et al.  The influence of maternal insulin‐dependent diabetes on fetal nuchal translucency thickness and first‐trimester maternal serum biochemical markers of aneuploidy , 2005, Prenatal diagnosis.

[22]  K. Nicolaides,et al.  Increased nuchal translucency with normal karyotype. , 2005, American journal of obstetrics and gynecology.

[23]  S. Kelekci,et al.  Can increased nuchal translucency in the first trimester of pregnancy predict gestational diabetes mellitus , 2005, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

[24]  D. Dunger,et al.  Birth weight, infant growth and insulin resistance. , 2004, European journal of endocrinology.

[25]  F. Malone,et al.  First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: a population-based screening study (the FASTER Trial). , 2004, American journal of obstetrics and gynecology.

[26]  A. Fowden.  The insulin-like growth factors and feto-placental growth. , 2003, Placenta.

[27]  J. Bartha,et al.  The effect of metabolic control on fetal nuchal translucency in women with insulin‐dependent diabetes: a preliminary study , 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[28]  B. Leventhal,et al.  Fluctuations of Maternal Smoking During Pregnancy , 2003, Obstetrics and gynecology.

[29]  S. Larsen,et al.  Gender impact on first trimester markers in Down syndrome screening , 2002, Prenatal diagnosis.

[30]  Laurence Tiret,et al.  Combined effects of genetic and environmental factors on insulin resistance associated with reduced fetal growth. , 2002, Diabetes.

[31]  K. Nicolaides,et al.  First trimester maternal serum free β human chorionic gonadotrophin and pregnancy associated plasma protein A as predictors of pregnancy complications , 2000, BJOG : an international journal of obstetrics and gynaecology.

[32]  K. Nicolaides,et al.  The influence of fetal sex in screening for trisomy 21 by fetal nuchal translucency, maternal serum free β‐hCG and PAPP‐A at 10–14 weeks of gestation , 2000, Prenatal diagnosis.

[33]  J. Weber,et al.  Genomewide search for type 2 diabetes susceptibility genes in four American populations. , 2000, American journal of human genetics.

[34]  J R Yates,et al.  The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A. , 1999, Proceedings of the National Academy of Sciences of the United States of America.

[35]  J. Pedersen,et al.  Pregnancy‐associated plasma protein A in first trimester of diabetic pregnancy and subsequent fetal growth , 1998, Acta obstetricia et gynecologica Scandinavica.

[36]  John B. Lowe,et al.  Quality of Measurement of Smoking Status by Self-Report and Saliva Cotinine Among Pregnant Women , 1998, Maternal and Child Health Journal.

[37]  K. Spencer.  The influence of smoking on maternal serum AFP and free beta hCG levels and the impact on screening for Down syndrome , 1998, Prenatal diagnosis.

[38]  F. Prefumo,et al.  Association between birth weight and first-trimester free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A. , 2008, Fertility and sterility.

[39]  Y. Ville,et al.  Long-term outcome of children born after a first-trimester measurement of nuchal translucency at the 99th percentile or greater with normal karyotype: a prospective study. , 2007, American journal of obstetrics and gynecology.

[40]  J. Girard.  Hormonal Regulation of Fetal Growth , 2006 .

[41]  C. V. van Duijn,et al.  Polymorphism in the IGF-I gene: clinical relevance for short children born small for gestational age (SGA). , 2002, The Journal of clinical endocrinology and metabolism.