CMM 585 Maternal Illness

Describe Type 1 diabetes

• Body does not make insulin

• immune system attacks and destroys the cells in the pancreas that makes insulin

• usually diagnosed in children and young adults, although it can appear at any age

• replacement requires taking insulin daily

Describe Type 2 diabetes

• Body does not make or use insulin well

• Can develop at any age

• most common

Describe gestational diabetes

• developed during pregnancy in approximately 2 to 18%

• Generally goes away after baby is born

• Greater chance of developing type 2 diabetes later in life

What are complications of pregnancy with diabetes

• pregnancy induced hypertension

• preeclampsia, hemolysis, elevated liver enzymes, low platelets syndrome

• c section for fetal distress or size

• worsening of any degree or pre-existing renal insufficiency and retinopathy

What are fetal outcomes from early exposure to hyperglycemia 

• 3-4X increased risk for single defects and about eight fold for multiple defects 

• Cardiac → TGA, DORV, VSD, truncus arteriosus, tricuspid atresia, and PDA

• CNS → anencephaly and spina biffida are 13 and 20 times more frequent

• Also see flexion contracture of the limbs, vertebral anomalies, cleft palate, genitourinary tract, anomalies including small left colon syndrome 

What are fetal outcomes from alter exposure to hyperglycemia 

Pregnancy loss, macrosomia, respiratory disress, hypoglycemia, hyperbilirubinema, polycthemia, cardiomyopathy, growth restriciton, poor feeding initially, and PPHN

How is diabetes usually diagnosed

Fasting blood glucose, random blood glucose, or HbA1C

Type 1 treatment

insulin replacement

Type 2 treatment

Diet and exercise, medications

Gestational treatment

Diet and exercise, insulin or metformin

How often does cancer occur during pregnancy? Breast cancer?

1-1000 pregnancies, and 1 in 3,000 for breast cancer

True or false, cancer is more aggressive during pregnancy

False

When is treatment usually started for cancer in pregnancy

Delayed until 2nd or 3rd trimester or after the pregnancy

Use of Adriamycin in pregnancy/treatment in the first trimester?

Some studies showed anomalies, some did not 

Use of adriamycin in pregnancy/lactation in the 2nd and 3rd trimester?

No evidence of teratogenicity, recent recommendations say it can be used with minimal risk. Not considered to be compatible with breastfeeding

Use of cyclophosphamide in pregnancy/treatment? in 1st trimester?

Reports of skeletal, palate, limb, and eye defects. There have been reports of normal outcomes as well

Use of cyclophosphamide in the 2nd and 3rd trimester?

Increase in growth restriction and pancytopenia

Chemo is generally avoided after how many weeks?

35

What is the main route for phenylalanine metabolism?

Hydroxylation of phenylalanine to tyrosine by phenylalanine hydroxylase (PAH)

What does PAH deficiency result in?

Intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders

What disorders does a PAH deficiency lead to?

• PKU → complete or near completely loss of deficiency of PAH

• non-PKU hyperphenylalaniemia

What causes PKU?

Mutations in the PAH gene

What else may cause hyperphenylalaniemia (HPA) (besides PAH deficiency)

Impaired synthesis or recycling of terahydropbiopterin (BH4), the cofactor in the hydroxylation reactions

What is the inheritance pattern for HPA caused by BH4 deficiency?

Autosomal recessive

What is the plasma Phe range for HPA?

Slightly above normal (>120 umol/L) to as high as 2500 umol/L

How long after birth is testing for PKU done?

24-72 hours

What are the plasma Phe levels for PKU?

<170 umol/L ≥170umol/L

What are the signs and symptoms of untreated PKU?

Microcephaly, decreased myelin formation, eczema and musty odor, hypopigmentation, limb spasticity later in life