CASE # 2

 Patient also needs to be offered a cystic fibrosis carrier testing to check if she carries a recessive
CFTR gene mutation. Cystic fibrosis transmembrane conductance regulator (CFTR) protein or
CFTR gene helps to maintain the balance of salt and water on many surfaces in the body, such as
the surface of the lung. Mutations in the CFTR gene cause the CFTR protein to malfunction or
not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung
infections, destruction of the pancreas, and complications in other organs. According O’sullivan,
among Caucasians, cystic fibrosis occurs in approximately 1 in 3,000 – 4,000 live births and
approximately one in 25–30 Caucasians are carriers of a pathogenic mutation of the CFTR gene
which made it the most common autosomal recessive disease in Caucasians.
 We also need to asked the patient of any family history of birth defects or genetic disorders and
provide referral for genetic counseling if issues are identified.
o Cystic fibrosis is caused by any of a range of mutations of the cystic fibrosis
transmembrane conductance regulator (CFTR) protein. A child inherits one CFTR allele
from each parent. Disease is present when both alleles have mutations. A person who
has a mutation on just one allele is a carrier. More than 70 percent of cases of cystic
fibrosis are caused by the f508del mutation, but over a thousand other mutations have
been identified.
o The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to
maintain the balance of salt and water on many surfaces in the body, such as the
surface of the lung. Mutations in the CFTR gene cause the CFTR protein to malfunction
or not be made at all, leading to a buildup of thick mucus, which in turn leads to
persistent lung infections, destruction of the pancreas, and complications in other
organs.
 Discussion of increased risk of Down’s Syndrome and other trisomies based on current age of 39
and probable older age when she conceives. According to Stanford Children’s Health, The risk
for chromosome problems increases with the mother's age. The risk is about 1 in 1,250 for a
woman who conceives at age 25 and increases to about 1 in 100 for a woman who conceives at
age 40. After having 1 child with Down syndrome, the chance of having another baby with Down
syndrome is higher.
 Advise patient to begin prenatal multivitamins or at least folic acid supplementation (0.4 mg per
day) for the prevention of fetal neural tube defects.
 Accurate recording of LMP and cycle length in order to assist in dating her pregnancy and allow
her to present early for prenatal care when she does conceive.
 Lastly, we need to review patients’ immunization history; employment, medical or behavioral
risk factors for infections against which effective vaccines are available; and also, we need to
test for evidence of immunity against rubella and also recommend immunizations based on the
review.

CASE # 4

The next steps in management

 Admission – this is necessary for a thorough evaluation and monitoring of the patient to detect
and prevent any sudden deterioration in maternal or fetal condition.
 Intravenous access –
o This allows if needed, sampling of blood, administration of fluids and medication such as
oxytocin, and also for emergency induction of anesthesia or maternal resuscitation
following hemorrhage from lacerations or from uterine atony.
 Fetal heart rate monitoring –
o This is also important because it is a way to check the condition of the baby during
labor. Monitoring can be continuous for high-risk patients or intermittent if not.
o The American Academy of Pediatrics and American College of Obstetricians and
Gynecologists (2017) recommend that during first-stage labor, in the absence of any
abnormalities, the fetal heart rate should be checked immediately after a contraction at
least every 30 minutes and then every 15 minutes during the second stage. If
continuous electronic monitoring is used, tracing is evaluated at least every 30 minutes
during the first stage and at least every 15 minutes during second-stage of labor. For
women with pregnancies at risk, fetal heart auscultation is performed at least every 15
minutes during first-stage labor and every 5 minutes during the second stage.
Continuous electronic monitoring may be used with evaluation of the tracing every 15
minutes during the first stage of labor, and every 5 minutes during the second stage.
 Laboratory evaluation –
o Women with no prenatal care are considered to be at risk for syphilis, hepatitis B, and
HIV, and laboratory screening studies for these, as well as a blood type and antibody
screen, are performed (American Academy of Pediatrics and American College of
Obstetricians and Gynecologists, 2017). Some states, for example, Texas, require routine
testing for syphilis, hepatitis B, and HIV in all women admitted to labor and delivery
units, even if these were done during prenatal care.