Maternal Serum Screening and Ultrasound
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Questions and Answers

What role does folic acid play in a healthy pregnancy?

Folic acid is essential for the development of the baby's spinal cord and brain, and a deficiency can lead to birth defects such as spina bifida.

How do drug and alcohol use by the mother during pregnancy affect the developing fetus?

Drug and alcohol use during pregnancy can have serious consequences for the developing fetus, leading to birth defects, developmental delays, and even premature birth or miscarriage.

What is gestational diabetes? a. How does it develop? b. How is it treated? c. How does it affect mother/baby?

Gestational diabetes is a condition where a woman develops high blood sugar levels during pregnancy. It often develops due to hormonal changes during pregnancy that make cells less sensitive to insulin. It's typically treated with diet and exercise, and sometimes medication. If left untreated, it can pose risks to both the mother and baby, including premature birth, high birth weight, and low blood sugar after delivery.

What are the different types of screening tests that you can get during pregnancy?

<p>The main types of screening tests during pregnancy include maternal serum screening, ultrasound, noninvasive prenatal screening, and diagnostic testing.</p> Signup and view all the answers

What are the different types of diagnostic tests that you can get during pregnancy?

<p>Diagnostic tests directly examine fetal cells and include chorionic villus sampling (CVS) and amniocentesis.</p> Signup and view all the answers

What are the different stages of pregnancy when you can get specific tests?

<p>Tests can be carried out at various stages of pregnancy. Maternal serum screening can be performed in the first and second trimesters, while ultrasound exams are commonly done throughout pregnancy.</p> Signup and view all the answers

What kind of testing involves analyzing cell free fetal DNA?

<p>Noninvasive prenatal screening (NIPS) involves analyzing cell-free fetal DNA, which is released by the placenta into the mother's blood.</p> Signup and view all the answers

What are some more invasive tests used to diagnose genetic issues in a developing fetus?

<p>Chorionic villus sampling (CVS) and amniocentesis are diagnostic tests that involve taking samples from the placenta or amniotic fluid, respectively. While effective, they are more invasive and carry a slightly higher risk of complications.</p> Signup and view all the answers

What are some common genetic disorders that are routinely screened for in newborns?

<p>Newborn screening programs typically check for a range of genetic or metabolic disorders, including cystic fibrosis, phenylketonuria (PKU), and hypothyroidism.</p> Signup and view all the answers

How are males and females represented in a pedigree?

<p>Males are typically represented by a square while females are represented by a circle in a pedigree.</p> Signup and view all the answers

Flashcards

Maternal Serum Screening

A blood test that measures hormones to assess risk of disorders in the fetus.

First Trimester Screening

Includes testing for hCG and PAPP-A, usually with NT ultrasound.

Quad Screen

Second trimester blood test measuring four substances to assess risk of conditions like Down syndrome.

Nuchal Translucency (NT) ultrasound

An ultrasound to measure fluid behind the baby's neck to assess risk of chromosomal abnormalities.

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Amniocentesis

A diagnostic test that takes amniotic fluid to diagnose genetic disorders in the fetus.

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Chorionic Villus Sampling (CVS)

A test that takes a sample of placental tissue for genetic diagnosis.

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True vs. False Positive

True positive indicates a correct diagnosis, while false positive suggests a condition that isn’t present.

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Carrier Screening

Tests to determine if an individual carries a gene for certain genetic disorders without showing symptoms.

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Preimplantation Genetic Diagnosis (PGD)

Testing embryos for genetic diseases before implantation during IVF.

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Cell-free fetal DNA analysis

A noninvasive test examining fetal DNA found in maternal blood for genetic conditions.

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Ultrasound Overview

Utilizes sound waves to view the fetus, measuring size and detecting anomalies.

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Fetal Screening vs. Diagnostic Testing

Fetal screening assesses risk, while diagnostic testing provides definitive answers about genetic disorders.

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Genetic Disorder Definition

Abnormalities in genetic material that can impact health.

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Homologous Chromosomes

Pairs of chromosomes; one inherited from each parent, carrying genes for the same traits.

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Dominant vs. Recessive Alleles

Dominant alleles express traits if present, while recessive alleles require two copies to express.

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Autosomal Recessive Inheritance

Genetic pattern where two carrier parents have a chance of having an affected child.

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Newborn Screening

Tests conducted to detect genetic or metabolic disorders shortly after birth.

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Alzheimer's Disease

A progressive neurological disorder affecting memory and cognition, often hereditary.

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Duchenne Muscular Dystrophy

A severe genetic disorder characterized by progressive muscle degeneration and weakness.

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Gestational Diabetes

Diabetes that develops during pregnancy, often resolving after delivery.

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Down Syndrome

A genetic disorder caused by an extra chromosome 21, leading to developmental delays.

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Genetic Locus

The specific location of a gene on a chromosome.

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Phenotypic Expression

Visible traits of an organism resulting from its genotype.

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Alleles

Different forms of a gene that can exist at a gene locus.

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Folic Acid Importance

Vital nutrient that helps prevent neural tube defects during pregnancy.

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Noninvasive Prenatal Testing (NIPT)

Screens for genetic conditions without risk to the fetus, using maternal blood.

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Anatomy Ultrasound

Used in the second trimester to assess fetal development and detect abnormalities.

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Risks of Diagnostic Tests

Procedures like CVS and amniocentesis carry small potential risks for miscarriage.

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Timing of Prenatal Tests

Different prenatal tests are recommended at various gestational weeks.

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Study Notes

Maternal Serum Screening

  • First trimester screening (NCS, PAPP-A)
  • Usually done in conjunction with the NT ultrasound
  • Measures hormones like hCG and PAPP-A
  • Looks for chromosomal abnormalities and cardiac disorders
  • Not a diagnostic test
  • Positive result may need further testing

Ultrasound

  • Nuchal Translucency (NT) ultrasound; measures nuchal fold
  • Anatomy ultrasound; measures size/growth of fetus, heartbeat
  • Done at different points of pregnancy

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Description

This quiz covers essential aspects of maternal serum screening and ultrasound during pregnancy. It will test your knowledge on first trimester screening, hormone measurements, and the significance of nuchal translucency ultrasounds in evaluating fetal health. Participants will learn how these screenings can indicate potential chromosomal abnormalities.

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