Podcast
Questions and Answers
- high incidence of spontaneous abortions, premature labor, placental abnormalities
- low birth weight
- prone to SIDS
- 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
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
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
decreased incidence of neural tube defects is by intake of
Signup and view all the answers
Congenital dislocation of the hip genetic factor
Congenital dislocation of the hip genetic factor
Signup and view all the answers
Congenital dislocation of the hip environmental factor
Congenital dislocation of the hip environmental factor
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
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
Signup and view all the answers
the embryo is extremely susceptible to teratogenesis;
the embryo is extremely susceptible to teratogenesis;
Signup and view all the answers
During this period, organs are being crafted out of the germ cell layers
During this period, organs are being crafted out of the germ cell layers
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.
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.
Signup and view all the answers
Mode of action of cyclopamine
Mode of action of cyclopamine
Signup and view all the answers
mutations in hedgehog signaling cause
mutations in hedgehog signaling cause
Signup and view all the answers
o an antiepileptic
o recognized teratogen during pregnancy
o an antiepileptic o recognized teratogen during pregnancy
Signup and view all the answers
Mode of action of valporic acid
Mode of action of valporic acid
Signup and view all the answers
mutations in HOX cause same features in
mutations in HOX cause same features in
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
o vitamin A (Retinol) derivative o absent during embryogenesis
- malformations affecting multiple organ systems
- essential for normal development and differentiation
Signup and view all the answers
Mode of action of All-trans-retinoic acid
Mode of action of All-trans-retinoic acid
Signup and view all the answers
mutations in Tgfb3 gene cause
mutations in Tgfb3 gene cause
Signup and view all the answers
➔ gestational age less than 37 weeks
➔ 2nd most common cause of neonatal mortality
➔ gestational age less than 37 weeks ➔ 2nd most common cause of neonatal mortality
Signup and view all the answers
Appropriate for gestational age (AGA)
Appropriate for gestational age (AGA)
Signup and view all the answers
Small for gestational age (SGA)
Small for gestational age (SGA)
Signup and view all the answers
Large for gestational age (LGA)
Large for gestational age (LGA)
Signup and view all the answers
Preterm
Preterm
Signup and view all the answers
Post-term
Post-term
Signup and view all the answers
refers to spontaneous ROM occurring BEFORE 37 weeks of gestation
refers to spontaneous ROM occurring BEFORE 37 weeks of gestation
Signup and view all the answers
refers to spontaneous ROM occurring AFTER 37 weeks of gestation
refers to spontaneous ROM occurring AFTER 37 weeks of gestation
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
the major cause of preterm labor with and without intact membranes o present in ~25% of all preterm births
Signup and view all the answers
inflammation of the placental membranes
inflammation of the placental membranes
Signup and view all the answers
inflammation of the fetal umbilical cord
inflammation of the fetal umbilical cord
Signup and view all the answers
Most common microoganisms in intrauterine infection
Most common microoganisms in intrauterine infection
Signup and view all the answers
Uterine, cervical, and placental structural abnormalities
Uterine, cervical, and placental structural abnormalities
Signup and view all the answers
hyaline membrane disease
hyaline membrane disease
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)
- 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)
Signup and view all the answers
- intrinsically reduce growth potential despite an adequate supply of nutrients
- characterized by symmetric growth restriction (proportionate FGR)
- intrinsically reduce growth potential despite an adequate supply of nutrients
- characterized by symmetric growth restriction (proportionate FGR)
Signup and view all the answers
Diseases under fetal abnormalities
Diseases under fetal abnormalities
Signup and view all the answers
Most common microorganisms that cause fetal infections
Most common microorganisms that cause fetal infections
Signup and view all the answers
most common factor associated with SGA infants: maternal conditions that result in decreased
blood flow
most common factor associated with SGA infants: maternal conditions that result in decreased blood flow
Signup and view all the answers
toxemia of pregnancy
toxemia of pregnancy
Signup and view all the answers
Maternal abnormalities
Maternal abnormalities
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
- 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
Signup and view all the answers
umbilical-placental vascular anomalies
umbilical-placental vascular anomalies
Signup and view all the answers
results from viable genetic mutations occurring AFTER zygote formation
results from viable genetic mutations occurring AFTER zygote formation
Signup and view all the answers
Most frequently documented chromosomal mosaicism
Most frequently documented chromosomal mosaicism
Signup and view all the answers
occur at the time of the 1st and 2nd postzygotic division
occur at the time of the 1st and 2nd postzygotic division
Signup and view all the answers
- occurs later and within dividing trophoblast or extraembryonic progenitor cells of the inner cell mass
- limited to placenta
- occurs later and within dividing trophoblast or extraembryonic progenitor cells of the inner cell mass
- limited to placenta
Signup and view all the answers
Strong associations of RDS
Strong associations of RDS
Signup and view all the answers
Within 30 minutes of RDS
Within 30 minutes of RDS
Signup and view all the answers
Within a few hours of RDS
Within a few hours of RDS
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
Within few hours of RDS, A chest radiograph at this time usually reveals uniform minute reticulogranular densities, producing a so-called
Signup and view all the answers
The fundamental defect in RDS is
The fundamental defect in RDS is
Signup and view all the answers
hydrophobic surfactant proteins
hydrophobic surfactant proteins
Signup and view all the answers
Surfactant proteins that play a role in pulmonary host defense (innate immunity)
Surfactant proteins that play a role in pulmonary host defense (innate immunity)
Signup and view all the answers
Surfactant proteins that are involved in reduction of surface tension at the air-liquid barrier
Surfactant proteins that are involved in reduction of surface tension at the air-liquid barrier
Signup and view all the answers
Mutations in SFTPB and SFTBC results in
Mutations in SFTPB and SFTBC results in
Signup and view all the answers
Cells that produce surfactant
Cells that produce surfactant
Signup and view all the answers
Glucocorticoids play an important role because increased corticosteroid release (d/t intrauterine stress and FGR) will lead to
Glucocorticoids play an important role because increased corticosteroid release (d/t intrauterine stress and FGR) will lead to
Signup and view all the answers
Major thrust in the control of RDS focuses on prevention via
Major thrust in the control of RDS focuses on prevention via
Signup and view all the answers
- expression of VEGF is markedly decreased
- cause endothelial cell apoptosis
- expression of VEGF is markedly decreased
- cause endothelial cell apoptosis
Signup and view all the answers
cause lesions in the retina
cause lesions in the retina
Signup and view all the answers
reversible impairment in development of septation at saccular stage
reversible impairment in development of septation at saccular stage
Signup and view all the answers
Cytokines released during Bronchopulmonary dysplasia
Cytokines released during Bronchopulmonary dysplasia
Signup and view all the answers
the presence of gas within the wall of the small or large intestine
the presence of gas within the wall of the small or large intestine
Signup and view all the answers
Perinatal infections primary routes of infection
Perinatal infections primary routes of infection
Signup and view all the answers
Most bacterial and few viral infections (e.g., herpes simplex II) are acquired by what route
Most bacterial and few viral infections (e.g., herpes simplex II) are acquired by what route
Signup and view all the answers
- Causes erythema infectiousum or 5th disease of childhood
- Has a particular tropism for erythroid cells
- Causes erythema infectiousum or 5th disease of childhood
- Has a particular tropism for erythroid cells
Signup and view all the answers
Occurs within the first 7 days of life, Most common cause: Group B Streptococcus
Occurs within the first 7 days of life, Most common cause: Group B Streptococcus
Signup and view all the answers
From 7 days to 3 months of life, Infections with Listeria and Candida
From 7 days to 3 months of life, Infections with Listeria and Candida
Signup and view all the answers
Accumulation of edema fluid in the fetus during intrauterine growth
Accumulation of edema fluid in the fetus during intrauterine growth
Signup and view all the answers
A hemolytic disease caused by blood group antigen incompatibility between mother and fetus
A hemolytic disease caused by blood group antigen incompatibility between mother and fetus
Signup and view all the answers
What are the major antigens in immune hydrops?
What are the major antigens in immune hydrops?
Signup and view all the answers
Only major cause of Rh incompatibility
Only major cause of Rh incompatibility
Signup and view all the answers
Hemolytic disease occurs almost exclusively in infants of
Hemolytic disease occurs almost exclusively in infants of
Signup and view all the answers
o Direct result of red cell loss
o May result in hypoxic injury to the heart and liver
o Direct result of red cell loss o May result in hypoxic injury to the heart and liver
Signup and view all the answers
bilirubin blinds to lipids in the brain and can damage the CNS, causing
bilirubin blinds to lipids in the brain and can damage the CNS, causing
Signup and view all the answers
Chromosomal anomalies associated with fetal hydrops
Chromosomal anomalies associated with fetal hydrops
Signup and view all the answers
abnormalities of lymphatic drainage from the neck → lead to postnuchal fluid accumulation or cystic hygromas
abnormalities of lymphatic drainage from the neck → lead to postnuchal fluid accumulation or cystic hygromas
Signup and view all the answers
- deletion of all four a-globin genes
- most common cause of nonimmune hydrops
- deletion of all four a-globin genes
- most common cause of nonimmune hydrops
Signup and view all the answers
bilirubin level that can cause neural damage
bilirubin level that can cause neural damage
Signup and view all the answers
Caused by biallelic mutations of the gene encoding phenylalanine hydroxylase (PAH)
Caused by biallelic mutations of the gene encoding phenylalanine hydroxylase (PAH)
Signup and view all the answers
Normal [Phe]
Normal [Phe]
Signup and view all the answers
Classic [Phe] in PKU
Classic [Phe] in PKU
Signup and view all the answers
Defects in BH4 recycling disturb the synthesis of
Defects in BH4 recycling disturb the synthesis of
Signup and view all the answers
Abnormalities in synthesis and recycling of this cofactor will also lead to PKU
Abnormalities in synthesis and recycling of this cofactor will also lead to PKU
Signup and view all the answers