Maternal Mortality: Global Stats & Prevention

Maternal Mortality: Global Statistics

• In 2020, approximately 287,000 women died from pregnancy and childbirth complications
• This equates to about 800 deaths daily, or one death every two minutes
• 95% of these deaths occurred in low and lower-middle-income countries
• Between 2000 and 2020 the global maternal mortality ratio decreased by about 34%
• The decline has plateaued in recent years
• Direct causes include severe bleeding, infections, high blood pressure during pregnancy, complications from unsafe abortions, and obstructed labor
• Most causes are preventable with proper medical care
• Prevention includes quality prenatal care, skilled care during childbirth, and postnatal support
• Reducing barriers to healthcare access and improving health systems are crucial to reduce maternal mortality.

Maternal Health in the Philippines

• The Philippine Statistics Authority (PSA) provides maternal health insights
• The maternal mortality ratio remained relatively low at approximately 200 maternal deaths per 100,000 live births
• Two-thirds of all births occur at home
• Only 56% of mothers receive assistance from health professionals during delivery
• 88% of Filipino infants are breastfed at some point
• Early supplementation with other liquids and foods is common
• Colostrum (the initial breast milk) is rich in antibodies
• In 2022, the PSA reported 2,008 maternal deaths in the country
• Continued efforts are needed to improve maternal health services, promote skilled birth attendance, and support optimal breastfeeding

Genetic Assessment: Family History

• Begin with a comprehensive family history covering at least three generations
• Document the ages of both parents
• Note any consanguinity (parents being related)
• Note ethnic backgrounds, as some disorders are more prevalent in specific populations

Genetic Assessment: Physical Examination

• Conduct thorough physical assessments of both parents and any affected children
• Pay close attention to facial features like spacing between the eyes, ear shape, and position
• Also look for limb anomalies like number of fingers or toes, presence of webbing

Genetic Assessment: Laboratory Assays

• Collect and analyze samples to identify potential genetic disorders
• Samples include blood, amniotic fluid, and maternal and fetal cells

Indications for Genetic Testing

• Recommended for individuals or couples with:
• Previous children affected by congenital disorders or inborn errors of metabolism
• Close relatives diagnosed with genetic disorders
• Known carrier status of chromosomal disorders
• Personal history of chromosomal or metabolic diseases
• Consanguineous relationships
• Advanced parental age (women over 35 and men over 55)
• Ethnic backgrounds with a higher incidence of specific genetic conditions

Nursing Roles in Genetic Assessment and Counseling:

• Nurses gather detailed family medical histories to identify potential genetic risks
• Nurses support healthcare providers during examinations of parents and affected children
• Nurses assist with sample collection
• Nurses with specialized training offer direct genetic counseling to individuals and families

Diagnostic Testing Options: Invasive Tests

• Preimplantation Diagnosis: Tests embryos before implantation during in vitro fertilization
• Chorionic Villi Sampling (CVS): Biopsy of placental tissue between 10–12 weeks of gestation
• Amniocentesis: Collection of amniotic fluid between 15–18 weeks for karyotyping
• Percutaneous Umbilical Blood Sampling (PUBS): Fetal blood sampling after 17 weeks to diagnose blood disorders and for karyotype analysis
• Fetoscopy: Direct visualization of the fetus using a small camera during the second or third trimester

Diagnostic Testing Options: Non-Invasive Tests

• Nuchal Translucency Screening: Ultrasound assessment between 11–14 weeks to measure the thickness at the fetus's neck; combined with maternal blood tests
• Cell-Free DNA (cfDNA) Testing: Maternal blood test available from 11 weeks (as early as 7 weeks) to screen for chromosomal abnormalities
• Maternal Serum Alpha-Fetoprotein (MSAFP): Blood test to screen for neural tube defects and other anomalies
• Maternal Quadruple Marker Screen: Blood test between 15–20 weeks to assess the risk of Down syndrome, trisomy 18, and trisomy 13
• Fetal Anatomy Ultrasound: Detailed ultrasound between 18–22 weeks to detect structural anomalies
• Newborn Screening: Blood tests performed shortly after birth to detect metabolic and genetic disorders

Common Chromosomal Disorders

• Trisomy 13 (Patau Syndrome): Features midline facial defects, heart anomalies, and extra digits
• Trisomy 18 (Edwards Syndrome): Features growth restriction, heart defects, and clenched fists
• Trisomy 21 (Down Syndrome): Features intellectual disability, characteristic facial features, and an increased risk of certain medical conditions
• Turner Syndrome (45,X): Affects females, resulting in short stature and infertility
• Klinefelter Syndrome (47,XXY): Affects males, resulting in hypogonadism and infertility
• Cri-du-Chat Syndrome (5p-): Features a high-pitched cry, intellectual disability, and distinct facial features
• Fragile X Syndrome: The most common inherited cause of intellectual disability; it is associated with a fragile site on the X chromosome

Nursing Diagnoses Related to Genetic Disorders

• Coping impairment related to the continuation of a genetically affected pregnancy
• Fear related to the outcomes of genetic screening tests
• Grief related to the inheritance pattern of a family's genetic disorder
• Knowledge deficiency regarding the inheritance patterns of specific disorders
• Readiness for education about the potential for genetic transmission of diseases
• Altered sexual activity due to fear of conceiving a child with a genetic disorder