Preconception counseling Flashcards
What is the main component of preconception counseling?
Understand reproductive goals
Comprehensive history to identify risks to mom fetus and pregnancy
What are important components of the history during preconception counseling?
Age
Past medical conditions
Reproductive history (OB & GYN)
Medications
Substance use
Genetic risk/conditions/family hx
Infections/immunizations
Nutrition
Physical activity
Environmental exposures
Mental health
Major surgeries
Is a physical exam warranted at a preconception care visit?
Yes
What does a physical exam include for a preconception visit?
Vitals and weight
Thyroid
Breast
Lungs
Heart
Abdomen
Genital area
What labs are recommended for preconception visit?
Counseling and screening for HIV
Document rubella/varicella immunity or lack of immunity, screen for chugs disease if from endemic area, genetic carrier screening, hbA1c in pregestational diabetes, type 2 diabetes in patients with risk factors
When do you screen for diabetes or pre diabetes in asymptomatic patients?
BMI of 25 or greater and 1 additional risk factor for diabetes
What are risk factors for type 2 diabetes?
- BMI 25 or greater
- Family history of 1st degree relative with diabetes
- Physical inactivity
- history of PCOS
- Hypertension
- High risk ethnicity
- History of CVD
- insulin resistance
What hbA1c level diagnoses pre diabetes?
5.7-6.4
what hbA1c level diagnoses diabetes?
6.5 or greater
What is the goal hbA1c prior to pregnancy?
<6
How do you screen for diabetes in asymptomatic patients?
HbA1c or fasting plasma glucose
What are the most common disorders tested for on carrier screening?
Cystic fibrosis
SMA
Hemoglobinopthies
Fragile X
What are hemoglobinopathies?
genetic disorders of hemoglobin inherited in autosomal recessive fashion
How can hemoglobinopathies present?
Asymptomatic in carriers
Mild to severe disease in homozygous and compound heterozygous patients
What are hemoglobinopathy disorders?
Alpha thalassemia
Beta thalassemia
Sickle cell disease
What group of people are at increased risk for thalassemia?
Mediterreanean
Southeast Asia
India
Middle East
What is first line testing for hemoglobinopathies?
CBC with red blood cell indices looking at MVC level
What is the next step if MCV value is low on red blood cells indices?
Hemoglobin electrophoresis
Who should receive hemoglobinopathy screening?
All patients either preconception or at first prenatal visit
What is cystic fibrosis?
Autosomal recessive disorder due to mutations of genes on chromosome 7 that involved in chloride channel functioning causes lung, pancreas, liver, intestine and vas deferens issues
What group of people have increased risk for cystic fibrosis?
Caucasians
Ashkenazi jews
What disorder in fetus/newborn typically appear first in kids affected by cystic fibrosis?
meconium ileus
What is another option to detect newborn affected by CF if patient does not want to undergo carrier screening or prenatal diagnostic testing?
Await newborn screening
What are some things on fetal anatomy scan that can make you suspicious for CF?
Echogeneic bowel
Dilated bowel
Absent gallbladder
How do you screen for cystic fibrosis?
Standard panel screen starting with mom unless there is personal or family history in one of the parents
What causes SMA?
Mutations in SMN1 gene on chromosome 5
What is the genetic testing for Spinal muscular atrophy?
homozygous deletions of exon 7 on SMN1 gene
What is fragile X syndrome?
X linked disorder and most common cause of inherited intellectual disability and autism spectrum disorder
What is the gene affected with fragile X?
FMR1 gene
What is a normal amount of CGG repeat in fragile X?
5-44 CGG trinucleotide repeats
What is the amount of CGG trinucleotide repeats that cause premutation in fragile X?
55-200 CGG repeats
What is the amount of CGG trinucleotide repeats that cause Full mutation in fragile X?
> 200 CGG repeats
What is the significance of premutation in fragile X syndrome?
In women their offspring are at risk of expansion into a full mutation
Who does ACOG recommend Fragile X screening in?
- Women with family history of fragile X or intellectual disability suspicious of fragile X
- Personal history of primary ovarian insufficiency or failure
- Personal history of elevated FSH prior to 40 y/o
- Known carriers of fragile X permutation or full mutation
What is the preferred method of diagnosis of fragile x syndrome or determining # of repeats?
DNA based molecular testing with souther blot and PCR
