GP PREFI EVALS PART 2
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  • high incidence of spontaneous abortions, premature labor, placental abnormalities
  • low birth weight
  • prone to SIDS

Smoke-derived nicotine

o mutagenic, carcinogenic, teratogenic o cause malformations such as microcephaly, blindness, skull defects, spina bifida

Irradiations (1%)

result of inheritance of multiple genetic polymorphisms that confer a “susceptibility phenotype” -interaction with environment is required before the disorder becomes manifested

Multifactorial inheritance (20-25%)

decreased incidence of neural tube defects is by intake of

<p>Folic acid</p> Signup and view all the answers

Congenital dislocation of the hip genetic factor

<p>Shallow acetabular socket</p> Signup and view all the answers

Congenital dislocation of the hip environmental factor

<p>Frank breech position in utero</p> Signup and view all the answers

In this period, an injurious agent damages either enough cells to cause death and abortion or only a few cells, presumably allowing the embryo to recover without developing defects

<p>early embryonic period</p> Signup and view all the answers

the embryo is extremely susceptible to teratogenesis;

<p>Third and ninth weeks</p> Signup and view all the answers

During this period, organs are being crafted out of the germ cell layers

<p>Fourth and fifth weeks</p> Signup and view all the answers

The fetus is susceptible to growth restriction or injury to already formed organs. Thus a given agent may produce different anomalies if exposure occurs at different times of gestation.

<p>Fetal period</p> Signup and view all the answers

Mode of action of cyclopamine

<p>Inhibits hedgehog signaling in the embryo</p> Signup and view all the answers

mutations in hedgehog signaling cause

<p>holoprosencephaly</p> Signup and view all the answers

o an antiepileptic o recognized teratogen during pregnancy

<p>Valproic acid</p> Signup and view all the answers

Mode of action of valporic acid

<p>disrupts expression of homeobox (HOX) proteins, which are implicated in the patterning of limbs, vertebrae, and craniofacial structures</p> Signup and view all the answers

mutations in HOX cause same features in

<p>valproic acid embryopathy</p> Signup and view all the answers

o vitamin A (Retinol) derivative o absent during embryogenesis

  • malformations affecting multiple organ systems
  • essential for normal development and differentiation

<p>All-trans-retinoic acid</p> Signup and view all the answers

Mode of action of All-trans-retinoic acid

<p>mediate deregulation of components of TGF-β signaling (involved in palatogenesis)</p> Signup and view all the answers

mutations in Tgfb3 gene cause

<p>Cleft palate</p> Signup and view all the answers

➔ gestational age less than 37 weeks ➔ 2nd most common cause of neonatal mortality

<p>Prematurity</p> Signup and view all the answers

Appropriate for gestational age (AGA)

<p>Birthweight between 10th and 90th percentile</p> Signup and view all the answers

Small for gestational age (SGA)

<p>Birthweight below 10th percentile</p> Signup and view all the answers

Large for gestational age (LGA)

<p>Birthweight above 90th percentile</p> Signup and view all the answers

Preterm

<p>Born before 37 weeks</p> Signup and view all the answers

Post-term

<p>Born after 42nd week</p> Signup and view all the answers

refers to spontaneous ROM occurring BEFORE 37 weeks of gestation

<p>PPROM</p> Signup and view all the answers

refers to spontaneous ROM occurring AFTER 37 weeks of gestation

<p>PROM</p> Signup and view all the answers

the major cause of preterm labor with and without intact membranes o present in ~25% of all preterm births

<p>Intrauterine infection</p> Signup and view all the answers

inflammation of the placental membranes

<p>Chorioamnionitis</p> Signup and view all the answers

inflammation of the fetal umbilical cord

<p>Funisitis</p> Signup and view all the answers

Most common microoganisms in intrauterine infection

<p>Ureaplasma urealyticum, Mycoplasma hominis, Gardnerella vaginalis (dominant organism in bacterial vaginosis), Trichomonas, Gonorrhea, Chlamydia</p> Signup and view all the answers

Uterine, cervical, and placental structural abnormalities

<p>Uterine distortion, cervical incompetence, placenta previa, abruptio placentae</p> Signup and view all the answers

hyaline membrane disease

<p>Neonatal respiratory disease syndrome</p> Signup and view all the answers

  • Refer to some infants (1/3) who weigh less than 2500 gm despite being born at term
  • undergrown rather than immature
  • suffer from fetal growth restriction (aka intrauterine growth retardation)

<p>Small-for-gestational-age (SGA) infants</p> Signup and view all the answers

  • intrinsically reduce growth potential despite an adequate supply of nutrients
  • characterized by symmetric growth restriction (proportionate FGR)

<p>Fetal Abnormalities</p> Signup and view all the answers

Diseases under fetal abnormalities

<p>Chromosomal disorders, fetal infections, congenital anomalies</p> Signup and view all the answers

Most common microorganisms that cause fetal infections

<p>TORCH (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes)</p> Signup and view all the answers

most common factor associated with SGA infants: maternal conditions that result in decreased blood flow

<p>Maternal Abnormalities</p> Signup and view all the answers

toxemia of pregnancy

<p>preeclampsia</p> Signup and view all the answers

Maternal abnormalities

<p>Vascular diseases, maternal malnutrition, avoidable factors, drugs</p> Signup and view all the answers

  • uteroplacental insufficiency
  • result in asymmetric or disproportionate growth retardation with relative sparing of the brain
  • viewed as downregulation of growth in late half of gestation d/t limited availability of nutrients and oxygen

<p>Placenta abnormalities</p> Signup and view all the answers

umbilical-placental vascular anomalies

<p>single umbilical artery, abnormal cord insertion, placental hemangioma</p> Signup and view all the answers

results from viable genetic mutations occurring AFTER zygote formation

<p>Chromosomal mosaicism</p> Signup and view all the answers

Most frequently documented chromosomal mosaicism

<p>Trisomy 7</p> Signup and view all the answers

occur at the time of the 1st and 2nd postzygotic division

<p>Generalized constitutional mosaicism</p> Signup and view all the answers

  • occurs later and within dividing trophoblast or extraembryonic progenitor cells of the inner cell mass
  • limited to placenta

<p>Confined placental mosaicism</p> Signup and view all the answers

Strong associations of RDS

<p>Infant is almost always preterm, male gender, maternal diabetes, delivery by cesarean section</p> Signup and view all the answers

Within 30 minutes of RDS

<p>Breathing becomes more difficult</p> Signup and view all the answers

Within a few hours of RDS

<p>cyanosis becomes evident in the untreated infant. Fine rales can then be heard over both lung fields.</p> Signup and view all the answers

Within few hours of RDS, A chest radiograph at this time usually reveals uniform minute reticulogranular densities, producing a so-called

<p>Ground glass picture</p> Signup and view all the answers

The fundamental defect in RDS is

<p>pulmonary immaturity and deficiency of surfactant</p> Signup and view all the answers

hydrophobic surfactant proteins

<p>SP-B and SP-C</p> Signup and view all the answers

Surfactant proteins that play a role in pulmonary host defense (innate immunity)

<p>SP-A and SP-D</p> Signup and view all the answers

Surfactant proteins that are involved in reduction of surface tension at the air-liquid barrier

<p>SP-B and SP-C</p> Signup and view all the answers

Mutations in SFTPB and SFTBC results in

<p>severe respiratory failure in neonates</p> Signup and view all the answers

Cells that produce surfactant

<p>type II alveolar cells</p> Signup and view all the answers

Glucocorticoids play an important role because increased corticosteroid release (d/t intrauterine stress and FGR) will lead to

<p>Lower risk of RDS</p> Signup and view all the answers

Major thrust in the control of RDS focuses on prevention via

<p>Delaying labor until the fetal lung reaches maturity and Inducing maturation of the lung in the fetus at risk</p> Signup and view all the answers

  • expression of VEGF is markedly decreased
  • cause endothelial cell apoptosis

<p>Retrolental fibroplasia Hyperoxic phase</p> Signup and view all the answers

cause lesions in the retina

<p>Retrolental fibroplasia hypoxic phase</p> Signup and view all the answers

reversible impairment in development of septation at saccular stage

<p>Bronchopulmonary dysplasia</p> Signup and view all the answers

Cytokines released during Bronchopulmonary dysplasia

<p>TNF, IL-1B, IL-6, IL-8</p> Signup and view all the answers

the presence of gas within the wall of the small or large intestine

<p>Pneumatosis intestinalis</p> Signup and view all the answers

Perinatal infections primary routes of infection

<p>Transcervical or ascending, Transplacental or hematologic, Combination</p> Signup and view all the answers

Most bacterial and few viral infections (e.g., herpes simplex II) are acquired by what route

<p>cervicovaginal</p> Signup and view all the answers

  • Causes erythema infectiousum or 5th disease of childhood
  • Has a particular tropism for erythroid cells

<p>Parvovirus B19</p> Signup and view all the answers

Occurs within the first 7 days of life, Most common cause: Group B Streptococcus

<p>Early-onset sepsis</p> Signup and view all the answers

From 7 days to 3 months of life, Infections with Listeria and Candida

<p>Late-onset sepsis</p> Signup and view all the answers

Accumulation of edema fluid in the fetus during intrauterine growth

<p>Fetal hydrops</p> Signup and view all the answers

A hemolytic disease caused by blood group antigen incompatibility between mother and fetus

<p>Immune hydrops</p> Signup and view all the answers

What are the major antigens in immune hydrops?

<p>Rh antigens, ABO blood groups</p> Signup and view all the answers

Only major cause of Rh incompatibility

<p>D antigen</p> Signup and view all the answers

Hemolytic disease occurs almost exclusively in infants of

<p>group A/B with group O mothers</p> Signup and view all the answers

o Direct result of red cell loss o May result in hypoxic injury to the heart and liver

<p>Anemia</p> Signup and view all the answers

bilirubin blinds to lipids in the brain and can damage the CNS, causing

<p>kernicterus</p> Signup and view all the answers

Chromosomal anomalies associated with fetal hydrops

<p>45,X karyotype (Turner syndrome) , trisomies 21 and 18</p> Signup and view all the answers

abnormalities of lymphatic drainage from the neck → lead to postnuchal fluid accumulation or cystic hygromas

<p>Turner Syndrome (45,X)</p> Signup and view all the answers

  • deletion of all four a-globin genes
  • most common cause of nonimmune hydrops

<p>Homozygous a-thalassemia</p> Signup and view all the answers

bilirubin level that can cause neural damage

<blockquote> <p>20 mg/dL</p> </blockquote> Signup and view all the answers

Caused by biallelic mutations of the gene encoding phenylalanine hydroxylase (PAH)

<p>Phenylketonuria</p> Signup and view all the answers

Normal [Phe]

<p>&lt;120 μm</p> Signup and view all the answers

Classic [Phe] in PKU

<blockquote> <p>600 μm</p> </blockquote> Signup and view all the answers

Defects in BH4 recycling disturb the synthesis of

<p>Neurotransmitters</p> Signup and view all the answers

Abnormalities in synthesis and recycling of this cofactor will also lead to PKU

<p>tetrahydrobiopterin (BH4)</p> Signup and view all the answers

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