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Genetic screening�Newborn asphyxia

Medvediev M.V., MD, PhD

Department of Obstetrics and Gynecology

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Mitosis

  • Genes, the basic units of heredity, are segments of deoxyribonucleic acid (DNA) that reside on chromosomes located in cell nuclei

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  • The genetic information in the human genome is packaged as chromatin, within which DNA binds with several chromosomal proteins to make chromosomes

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  • The goal of mitosis is to form two daughter cells that have a complete set of genetic information

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Meiosis

  • Meiosis differs from mitosis in that a haploid number of cells are initially produced in two successive divisions

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Common types of genetic disorders

  • Abnormalities in chromosome number (aneuploidy)
  • Abnormalities in chromosome structure
  • Genetic disorders

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Patterns of Inheritance

  • Single-gene (Mendelian) disorders
  • Autosomal dominant
  • Autosomal recessive
  • X-linked inheritance
  • Mitochondrial inheritance
  • Multifactorial inheritance

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RISK FACTORS FOR GENETIC DISORDERS

  • Advanced Maternal Age

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RISK FACTORS FOR GENETIC DISORDERS

  • Previous Pregnancy Affected by Chromosomal Abnormality
  • History of Early Pregnancy Loss
  • Advanced Paternal age
  • Ethnicity

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PRENATAL SCREENING

  • First trimester screening (10–13 weeks of gestation), which includes serum screening for pregnancy-associated plasma protein A (PPA) and beta-hCG, and an ultrasound assessment of nuchal transparency.
  • Second trimester screening (15–20 weeks of gestation) consisting of triple (maternal serum α-fetal protein [MSAFP], estriol, and hCG) or quadruple (“quad”) (MSAFP, hCG, estriol, and inhibin) screening tests.
  • Ultrasound examination for neural tube defects, in the second trimester (20-22 weeks)

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Nuchal transparency

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PRENATAL DIAGNOSIS OF GENETIC DISORDERS

  • Amniocentesis
  • Chorionic villus sampling
  • Percutaneous umbilical blood sampling
  • Other (fetal skin sampling, fetal tissue (muscle, liver) biopsy, and fetoscopy)

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TESTS

  • Karyotype
  • Fluorescence in situ hybridization (FISH)
  • Comparative genomic hybridization (CGH)

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Newborn resuscitation

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Thank you!