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Perinatal Pathology

*Morbi neonatorum et fetu*

For medical students2 min readUpdated 2026-10-10

Perinatal pathology encompasses disorders and developmental anomalies occurring from 22 weeks of intrauterine life to the first 7 days of postnatal life. The timing of exposure to the damaging agent on the developing organism plays a pivotal role in understanding these conditions.

Perinatal periodFrom 22 weeks of gestation to completed 7 days of life
GametopathyDamage occurring before fertilization
EmbryopathyDisorders during the period of organogenesis (days 16–75)
MortalityInfant (up to 1 year) and neonatal (up to 28 days)

Periods of Ontogenesis

Ontogenesis is the complete cycle of an organism's development from zygote formation to death. It is divided into three stages:

  1. Prezygotic period. Involves the formation of germ cells (gametes) with a halved (haploid) set of chromosomes via meiosis.
  2. Prenatal (antenatal) period. Covers all intrauterine development from the moment of egg and sperm fusion (restoration of the diploid set).
  3. Postnatal period. Begins after the child is born.

The beginning of the prenatal period includes the cleavage stage of the zygote, which transforms into a blastula. The latter consists of the trophoblast (future placenta) and embryoblast (body of the embryo). This is followed by gastrulation with the formation of three germ layers (ecto-, ento-, and mesoderm) and subsequent histo- and organogenesis.

Classification of Prenatal Pathology

Depending on when the pathological factor affects the fetus, four forms of disorders are distinguished:

Main Causes of Pathologies

Fetal development can be influenced by a wide variety of factors:

Perinatal Terminology

Strict criteria are used to accurately assess newborn status and statistics:

Mnemonic

To remember the timing of pathological periods, use the rule GEF-B (or GEM-F): Gametopathy (pre-conception), Blastopathy (up to 15 days), Embryopathy (up to 75 days), Fetopathy (up to birth).

Frequently asked questions

Which specific infectious agents are included in the TORCH group?

The TORCH group includes:

  • T (Toxoplasma) — toxoplasmosis.
  • O (Other) — other infections, including syphilis, chlamydia, enterovirus infections, hepatitis A and B, gonorrhea, and listeriosis.
  • R (Rubella) — rubella.
  • C (Cytomegalovirus/Cytomegalia) — cytomegalovirus infection.
  • H (Herpes) — herpes simplex virus infection.
What are the morphological signs of fetal prematurity at autopsy?

Morphological signs of prematurity include:

  • Skin — fine downy hair (lanugo) on the face, shoulders, and back.
  • Nails — underdeveloped nail plates.
  • Pinnae — soft due to poorly developed cartilage.
  • Skull — soft bones; sutures and small/lateral fontanelles may be open in premature infants.
  • Skeletal system — absence or underdevelopment of ossification centers in the epiphyses of long tubular bones.
  • Genitalia — in males, testes have not descended into the scrotum; in females, the labia majora do not cover the labia minora.
Which medications have a proven teratogenic effect?

Established teratogenic or embryotoxic agents include:

  • Anticonvulsants — valproic acid, carbamazepine, hydantoin, trimethadione.
  • Antineoplastics — methotrexate, aminopterin, mercaptopurine, cyclophosphamide, actinomycin, sarcolysin.
  • Antibacterials — streptomycin and tetracycline.
  • Psychotropics — imipramine, meprobamate; diazepam is contraindicated in the first trimester.
  • Hormones — diethylstilbestrol, antithyroid drugs, androgens, and high doses of progestogens.
  • Other drugs — thalidomide, warfarin, isotretinoin.
What external teratogens can cause fetal malformations?

External teratogenic factors capable of causing fetal malformations include:

  • Physical factors — ionizing radiation.
  • Chemical factors — alcohol, nicotine, illicit drugs, medications, industrial and domestic toxins including lead, methylmercury, phosphorus, benzene and its derivatives, phenol, formaldehyde, polychlorinated biphenyls, and pesticides.
  • Biological factors — infectious agents including rubella virus, cytomegalovirus, herpesviruses, varicella-zoster virus, Toxoplasma gondii, and Treponema pallidum (syphilis).
Can prematurity be diagnosed based on weight alone?

No, a weight of less than 2,500 g is not the sole criterion. Approximately one-third of term infants are born with such low birth weight.

What is the difference between neonatal and infant mortality?

Neonatal mortality accounts for deaths within the first 28 days of life, while infant mortality covers deaths during the first year of life.

What malformations are typical for fetopathies?

Fetopathies are characterized by the persistence of embryonic structures (e.g., patent foramen ovale, cleft lip) and organ hypoplasia/dysplasia (e.g., renal dysplasia, microcephaly).

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