Manifestations
Infants with this genetic disorder often exhibit brachycephaly, epicanthal folds, a single palmar crease, and a large tongue relative to mouth size.
What is Down syndrome (Trisomy 21)?
Advanced maternal age, specifically 35 years or older, increases the risk for this chromosomal condition.
What is Down syndrome (Trisomy 21)?
This key prenatal supplement helps prevent neural tube defects like spina bifida.
What is folic acid?
This prenatal test involves an ultrasound to measure the fluid at the back of the fetus’s neck, screening for chromosomal abnormalities like Trisomy 21.
Answer: What is fetal nuchal translucency (FNT)?
This inheritance pattern occurs when a single mutated gene from one parent is enough to cause the disorder.
What is autosomal dominant inheritance?
A neonate displays hypertonicity, exaggerated Moro reflex, excessive sucking, and skin excoriations from frantic movement. These are hallmark signs of this withdrawal syndrome.
What is Neonatal Abstinence Syndrome (NAS)?
The likelihood of Fetal Alcohol Spectrum Disorder (FASD) is significantly higher if alcohol exposure occurs during this specific period of fetal development, when craniofacial and central nervous system structures are forming.
What is the first trimester?
Infants with neonatal abstinence syndrome (NAS) benefit from this care approach, which focuses on swaddling, quiet environments, and feeding support.
Answer What is Eat, Sleep, Console (ESC)?
This invasive prenatal diagnostic test removes a small sample of placental tissue to detect chromosomal abnormalities.
What is chorionic villus sampling (CVS)?
*Can detect down syndrome*
This type of Inheritance trait allows a father to pass the condition to all of his daughters but none of his sons.
What is X-linked dominant inheritance?
This condition is associated with holoprosencephaly, microcephaly, limb deformities, congenital heart defects, and behavioral issues due to disrupted neural crest development.
What is Fetal Alcohol Spectrum Disorder (FASD)?
Which of the following are environmental risk factors for Neonatal Abstinence Syndrome (NAS)? (Select all that apply)
A) Maternal stress and lack of stress management
B) Maternal mental health disorders (e.g., depression, anxiety)
C) History of abuse (physical, emotional, or sexual)
D) Low socioeconomic status
E) Exposure to maternal alcohol and drug use
F) Maternal obesity
A) Maternal stress and lack of stress management
B) Maternal mental health disorders (e.g., depression, anxiety)
C) History of abuse (physical, emotional, or sexual)
D) Low socioeconomic status
E) Exposure to maternal alcohol and drug use
These environmental factors can contribute to NAS, either through their impact on the maternal health or behaviors during pregnancy or by affecting the overall prenatal environment.
To alleviate withdrawal symptoms in a newborn diagnosed with NAS, this medication may be prescribed, which helps reduce irritability and tremors.
what is morphine?
This gold standard genetic test involves extracting amniotic fluid to analyze fetal chromosomes.
What is amniocentesis?
(400 pts) Question: This pattern of inheritance does NOT follow Mendelian laws and results from a combination of genetic and environmental factors.
What is multifactorial inheritance?
A newborn with this disorder is at an increased risk for polycythemia, Hirschsprung’s disease, hypothyroidism, and atlantoaxial instability.
What is Down syndrome (Trisomy 21)?
Case Study 2:
A 27-year-old woman is 20 weeks pregnant and presents with concerns about her pregnancy. She reports experiencing significant stress from her recent divorce and financial difficulties. She has a history of depression, for which she takes a prescribed antidepressant. She smoked 15 cigarettes a day before pregnancy but has since cut down to 5 cigarettes daily. The patient does not drink alcohol or use any illicit drugs. She has had regular prenatal visits and has no history of hypertension or diabetes.
Question:
Considering the patient’s history and lifestyle, which neonatal disorders is this infant most at risk for? (Select all that apply)
A) Neonatal Abstinence Syndrome (NAS)
B) Fetal Alcohol Spectrum Disorder (FASD)
C) Preterm birth
D) Low birth weight
E) Respiratory complications
Answer:
A) Neonatal Abstinence Syndrome (NAS)
C) Preterm birth
D) Low birth weight
E) Respiratory complications
Rationale:
NAS: Nicotine exposure due to maternal smoking is a significant risk factor for NAS. Babies born to mothers who smoke can experience withdrawal symptoms after birth, which is a key feature of NAS.
Which of the following is the most effective strategy for reducing implicit bias in healthcare settings?
A) Relying on personal experiences to guide patient care
B) Implementing implicit bias training for all healthcare providers
C) Ignoring unconscious biases, as they do not affect clinical outcomes
D) Assuming that all patients will respond similarly to treatments
B) Implementing implicit bias training for all healthcare providers
Rationale:
Implicit bias training helps healthcare providers recognize their unconscious biases and learn strategies to address them, improving patient care and promoting equity in healthcare settings. Relying on personal experiences or assuming all patients respond similarly can reinforce bias, while ignoring it leads to inequitable care.
This simple blood test is used to screen for genetic disorders like sickle cell disease, cystic fibrosis, and PKU in newborns.
What is newborn screening?
This type of chromosomal abnormality occurs when a normal egg or sperm unites with an egg or sperm that has an extra chromosome, leading to 47 chromosomes instead of 46.
What is a trisomy?
Persistent autonomic dysfunction in affected neonates can lead to temperature instability, excessive sweating, nasal congestion, and tachypnea, complicating feeding and weight gain.
What is Neonatal Abstinence Syndrome (NAS)?
Neonatal Abstinence Syndrome disorders (NAS) are a leading public health issue in the United States, affecting up to 5% of school-aged children.
False: what is Fetal alcohol spectrum disorders (FASD)
When determining whether breastfeeding is appropriate for an infant diagnosed with Neonatal Abstinence Syndrome (NAS), which of the following criteria should the nurse consider to rule out potential contraindications? (Select all that apply)
A) The mother is HIV positive and not on antiretroviral therapy.
B) The mother is actively using opioids or other illicit drugs.
C) The mother has a history of active tuberculosis.
D) The mother has cracked or bleeding nipples.
E) The mother is taking prescribed methadone or buprenorphine for opioid dependence.
Answer:
A) The mother is HIV positive and not on antiretroviral therapy.
B) The mother is actively using opioids or other illicit drugs.
C) The mother has a history of active tuberculosis.
D) The mother has cracked or bleeding nipples.
Rationale:
A newborn is exhibiting jitteriness, tremors, a high-pitched cry, irritability, and poor feeding. Which of the following diagnostic steps should be taken first to differentiate between the two?
A. Obtain a point-of-care blood glucose test to rule out hypoglycemia.
B. Perform a Finnegan Neonatal Abstinence Scoring System (FNASS) assessment to evaluate withdrawal severity.
C. Collect a meconium or umbilical cord tissue sample for toxicology screening.
D. Draw serum electrolyte and bilirubin levels to assess for metabolic imbalances.
Answer: A. Obtain a point-of-care blood glucose test to rule out hypoglycemia.
(While B and C are important for diagnosing NAS, hypoglycemia must be ruled out first as it is an immediate medical concern.)
A couple expecting their first child is concerned about passing on sickle cell disease, as both parents are carriers. As the nurse, which of the following interventions are appropriate to support their decision-making? (Select all that apply.)
A. Provide genetic counseling to help them understand the risks and inheritance pattern.
B. Offer prenatal diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis, to determine if the fetus has inherited the disease.
C. Encourage the couple to undergo in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) if they want to avoid passing on the condition.
D. Reassure the couple that because they are only carriers, there is no chance their child will have the disease.
E. Educate them about newborn screening and early interventions if the child is diagnosed with sickle cell disease.
Answer: A, B, C, and E
(D is incorrect because there is a 25% chance the child could inherit the disease if both parents are carriers.)