DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype-phenotype variability in fetal ultrasound and MRI.

Objective: The aim of the study was to assess genotype-phenotype correlation of prenatally diagnosed fetal DGS and dup22q11 syndrome by fetal molecular genetic analysis, fetal ultrasound, and/or MRI.

Methods: In this retrospective consecutive case series, pregnant women were screened for fetal anomalies during a period of 10 years. Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: cardiac anomalies, hypo/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype-phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and dup22q11 syndrome.

Combination of first trimester serum afamin levels and three-dimensional placental bed vascularization as a possible screening method to detect women at-risk for adverse pregnancy complications like pre-eclampsia and gestational diabetes mellitus in low-risk pregnancies.

Objective: Aim of the study was to assess the correlation of first trimester serum afamin levels with three-dimensional placental bed vascularization in pregnant women and its prognostic value for predicting pre-eclampsia and future fetal and maternal complications during pregnancy.

Methods: In this nested case-control study all pregnant women registered for delivery during a period of 3 years were routinely screened in the first trimester. Serum afamin levels were assessed in 764 women and correlated to 5 pregnancy outcome groups: gestational hypertension (n = 76), pre-eclampsia (n = 33), intrauterine growth restriction (n = 91), pre-term birth (n = 39), gestational diabetes mellitus (n = 170); In addition, measurements of first trimester myometrial vascularization index were performed and, in combination with afamin tested as a possible screening method to detect women at-risk for the development of adverse complications in low-risk pregnancies at the time of the first trimester.

First trimester serum afamin concentrations are associated with the development of pre-eclampsia and gestational diabetes mellitus in pregnant women.

Objective: Aim of this study was to assess the prognostic capability of afamin to predict pregnancy complications.

Method: First-trimester screening was consecutively performed in 4948 pregnant women, of whom 474 women developed pregnancy complications [gestational hypertension (n=84), pre-eclampsia (n=30), intrauterine growth restriction (n=107), preterm birth (n=44), and gestational diabetes mellitus (n=209)]. To each woman with pregnancy complications an uncomplicated pregnancy was matched for body mass index.