Medical Archive

Introduction

Genomics in obstetrics

Chromosomal abnormalities

Standard nomenclature

Abnormalities of chromosome number

Autosomal trisomies

• Down syndrome
  • Diagnosis
    1. Quadruple screen at 15-20 weeks
    2. Cell-free fetal DNA testing (specificity 99%) & ultrasound

Momosomy

Polyploidy

Sex chromosome abnormalities

Abnormalities of chromosome structure

Deletions and duplications

Chromosomal translocations

Isochromosomes

Chromosomal inversions

Ring chromosome

Chromosomal mosaicism

Confined placental mosaicism

Gonadal mosaicism

Modes of inheritance

Relationship between Phenotype and Genotype

Autosomal Dominant Inheritance

Autosomal Recessive Inheritance

X-Linked and Y-Linked Inheritance

Mitochondrial Inheritance

DNA Triplet Repeat Expansion—Anticipation

Imprinting

Uniparental disomy

Multifactorial inheritance

Genetic tests

Cytogenetic analysis

Fluorescence In Situ Hybridization

Chromosomal Microarray Analysis

Whole Genome Sequencing and Whole Exome Sequencing

Fetal DNA in the Maternal Circulation