Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review.

The aim of the current review is to report a-CGH abnormalities identified in fetuses with prenatally diagnosed fetal malformations in whom a normal karyotype was diagnosed with conventional cytogenetic analysis. A systematic electronic search of databases (PubMed/Medline, EMBASE/SCOPUS) has been conducted from inception to May, 2017. Bibliographic analysis has been performed according to PRISMA statement for review.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

Objective: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies.

Materials And Methods: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management.

Results: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology.

Neurological Outcome in Fetuses with Mild and Moderate Ventriculomegaly.

 Ventriculomegaly (VM) is one the most frequent anomalies detected on prenatal ultrasound. Magnetic resonance imaging (MRI) may enhance diagnostic accuracy and prediction of developmental outcome in newborns.  The aim of this study was to assess the correlation between ultrasound and MRI in fetuses with isolated mild and moderate VM.

Early Detection of Cleft Lip by Three-Dimensional Transvaginal Ultrasound in Niche Mode in a Fetus With Trisomy 18 Diagnosed by Celocentesis.

Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE). Transvaginal three-dimensional (3D) scan performed using the niche-mode technique enabled diagnosis of HPE, hypotelorism, and cleft lip (CL).

408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.

Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus.

Majewski syndrome (short-rib polydactyly syndrome type II): Prenatal diagnosis and histological features of chondral growth plate, liver and kidneys.

The Majewski syndrome or short rib-polydactyly syndrome (SRPS) type II is a lethal skeletal dysplasia characterized by severe IUGR (intrauterine growth restriction) and dysmorphic face, polydactyly, relatively proportionate head size at birth with later progression to microcephaly. A case of second trimester ultrasound diagnosis of SRPS type II is reported with review of the medical record of previous observed cases. Postmortem examination and radiogram confirmed the clinical diagnosis.

Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).

Prenatal diagnosis of thanatophoric dysplasia (TD) type II presenting in the first trimester with increased nuchal translucency (NT) and cloverleaf skull (Kleeblattschaedel) have been scantly reported in the medical record. Abnormal choroid plexus has been seen in association with fetal anomalies. Here we described a case of increased NT associated with indented choroid plexuses, early onset hydrocephalus and cloverleaf skull in a fetus subsequently diagnosed at early second trimester to carry a de novo mutation encoding for TD type II.

Follicular growth and oocyte maturation in GnRH agonist and antagonist protocols for in vitro fertilisation and embryo transfer.

Background: The aim of this study was to evaluate the response to treatment in a group of patients undergoing IVF and randomised to receive GnRH-antagonist or the GnRH-agonist. The endpoints were the pattern of follicular growth, the maturity of the oocytes collected, the embryo quality and the pregnancy outcome.

Methods: A total of 136 patients undergoing IVF were included.

Intrauterine insemination with recombinant or urinary human chorionic gonadotropin: A prospective randomized trial.

Aim: Our aim was to compare the efficacy and safety of recombinant and urinary human chorionic gonadotropin (rhCG and uhCG, respectively) for the induction of follicle maturation in women undergoing intrauterine insemination (IUI).

Methods: Patients were randomized to receive rhCG or uhCG. IUI was carried out 24 h (day 1) and 48 h (day 2) after hCG administration, except for all cases in which ovulation occurred after 24 h.