Role of Prenatal Diagnosis in Parents with Sex Chromosomal Abnormality: A Review

What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study.

OBJECTIVE To investigate how the prenatal diagnosis of a sex chromosome anomaly is first communicated to parents. DESIGN Health professionals were interviewed by telephone and the conversation was taped; parents were sent questionnaires at 1 month after diagnosis and those who responded were sent another at 6 months. PARTICIPANTS 29 health professionals who had recently informed parents tha...

Chromosomal Abnormality in Men with Impaired Spermatogenesis

Prenatal Diagnosis of Triploidy in Fetus with Unexpected Chromosomal Translocation of Maternal Origin

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

Prenatal diagnosis of sex chromosomal inversion, translocation and deletion

The aim of the present study was to perform comprehensive prenatal diagnosis using various detection techniques on a fetus in a high‑risk pregnant woman, and to provide genetic counseling for the patient and her family so as to avoid birth defects. The routine karyotype analysis via amniocentesis, fluorescence in situ hybridization, and whole genome microarray technique were performed for the p...

Diagnosis of fetal megacystis with chromosomal abnormality by 2D prenatal ultrasound

RATIONALE The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. PATIENT CONCERNS The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall. DIAGNOSES Here, we present a case of fet...