Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses.

Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal.

Bifid choroid plexus: always a normal fetal brain structure variant?

Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid choroid plexus (BCP) and discussed their potential association with lateral ventriculomegaly, other abnormal ultrasound findings, and their potential role as markers of fetal chromosomal abnormalities. In the present study, we described 23 cases of fetal BCP found in 2145 routine second trimester ultrasounds.

Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis.

Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis.

Prenatal diagnosis of severe epignathus in a twin: case report and review of the literature.

A prenatal ultrasound diagnosis of epignathus in a dichorionic-diamniotic twin pregnancy is reported. A complex mass protruding from the fetal face was seen at week 19. Amniocentesis resulted in a 46,XX fetus with elevated alpha-fetoprotein (α-FP).

4D vs 2D ultrasound-guided amniocentesis.

Purpose: The aim of this study was to assess the effectiveness of 4D sonography (US) to guide amniocentesis when compared with standard 2D US, and to evaluate the impact this new method may have on needle placement, the number of needle insertions performed, and duration of the procedure.

Methods: One hundred routine consecutive unselected amniocenteses were performed with 4D US-guided technique and compared with 100 standard 2D US-guided amniocenteses. All procedures were performed by trainees in maternal-fetal medicine under the supervision of expert sonographers.

Amniotic fluid urocortin, CRF, oestriol, dehydroepiandrosterone sulfate and cortisol concentrations at mid-trimester: putative relationship with preterm delivery.

Objective: Stress-related peptide and steroid hormones are involved in the pathogenesis of preterm delivery, even though their clinical usefulness as predictive markers of preterm delivery remains unclear. The present study evaluated whether mid-trimester amniotic fluid concentrations of stress-related peptides, that is corticothophin-releasing factor (CRF) and urocortin (Ucn) and feto-placental steroids (oestriol, DHEA-S and cortisol) correlated with preterm delivery.

Study Design: It is a retrospective case-control study.

First trimester three-dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus.

A 19-year-old woman was scanned at 10(+6) weeks gestation by 2D-3D ultrasound. The fetus had a crown-rump length of 40.9 mm, with the cephalic pole occupied by a single cystic cavity measuring 10.

Association between oxidative stress in pregnancy and preterm premature rupture of membranes.

Background: Premature rupture of membranes (PROM) is caused by collagen damage in the chorioamniotic sac leading to tearing. Reactive oxygen species (ROS) may be the cause of collagen damage. Isoprostanes (F(2)-IP) are produced by ROS attack on polyunsaturated fatty acids and are sensitive and specific biomarkers of lipid-peroxidation in vivo.

Three-dimensional first-trimester transvaginal diagnosis of alobar holoprosencephaly associated with omphalocele in a 46,XX fetus.

A three-dimensional (3D) transvaginal diagnosis of alobar holoprosencephaly (HPE) with associated omphalocele is reported at 12 weeks, 3 days gestation. Diagnosis of HPE was based on visualization of a single holoprosencephalic cavity with absent falx and basal ganglia and omphalocele by the presence of abdominal wall defect with mid-gut herniation. Chorionic villus sampling showed a normal 46,XX karyotype.

Prenatal screening for fetal face and clefting in a prospective study on low-risk population: can 3- and 4-dimensional ultrasound enhance visualization and detection rate?

A study of 1856 second trimester low-risk pregnancies was conducted over a period of 12 months to evaluate the detection rate of cleft lip and palate by 3- and 4-dimensional (3D, 4D) ultrasonography. To image the fetal face and profile, a protocol regarding the use of external or internal hand stimulation or a repeated scan was followed, and the time taken to perform 3D scan was compared to that of a conventional 2D ultrasound. One case of unilateral right cleft lip and a cleft lip plus cleft palate were both identified, giving a prevalence of 1.

Isoprostanes in amniotic fluid: a predictive marker for fetal growth restriction in pregnancy.

Isoprostanes are markers of free radical-catalyzed lipid peroxidation. Evidence suggests that oxidative stress occurs in pregnancies with fetal growth restriction (FGR). The aim of this study was to analyze F2-isoprostanes in amniotic fluid of FGR pregnancies.

Re-evaluation of risk for Down syndrome by means of the combined test in pregnant women of 35 years or more.

Objective: Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome.

Materials And Methods: The study population included 408 pregnant women of 35 years and over, who requested the combined test (nuchal translucency, PAPP-A, free beta hCG, maternal age, cut-off 1:250) before deciding whether to undergo amniocentesis.

Results: The test was positive in 66 women who then requested amniocentesis for fetal karyotype determination; the other women had a negative test and declined amniocentesis.