Return to Diagnosis ListShow Learning Points most relevant to Phase 1:

Fetal health

Clinical Discipline(s)/Organ System(s)
Obstetrics & Gynaecology, Reproduction & Development, Medical Genetics, Paediatrics
Progress Test Topic(s)
Women's health
A 37 year old nulliparous NZ European woman presents to her GP when 8 weeks pregnant. Antenatal blood tests are arranged and she is offered prenatal screening for chromosomal abnormalities. The screening test is positive and her GP refers her to the specialist obstetric clinic.
Progress Test-Type Questions:   Question 1 | Question 2
Applied Science for Medicine 
   - Embryological development of the fetus, including role of folate and iodine
   - List the major developmental milestones
   - Difference between a syndrome, a sequence and an association; explain dysmorphology
   - Major fetal chromosomal abnormalities (aneuploidy)
   - Genetics of trisomy 21 (classic/mosaicism/translocation)
   - Patterns of Mendelian inheritance
   - Pathophysiology of common congenital anomalies
   - Vertical transmission of infections and their prevention
   - Common teratogens including medications, illicit drugs, alcohol
Clinical and Communication Skills 
   - Elicit a comprehensive booking history from a pregnant woman, focusing on risk factors for teratogenicity or fetal abnormality
   - Examination of a pregnant women
   - Interpret results of antenatal screening tests
   - Differential diagnosis of abnormal results of screening for chromosomal abnormalities e.g. multiple pregnancy, incorrect dates
   - Indications for chorionic villus sampling, amniocentesis and advanced ultrasound scanning
   - Discuss clinical suspicion with family/whānau prior to obtaining investigations to confirm the diagnosis
   - Outline the management options for a mother with an abnormal diagnostic test
   - Prognosis for mother and baby with abnormal diagnostic test
   - Management of fetal abnormalities for mother and baby; during pregnancy, labour and delivery, neonatal period and long-term
   - Important features of examination of a neonate
   - Major characteristics of Down syndrome
   - Describe other common syndromes, sequences and associations encountered in infancy and childhood
   - Assess a neonate's need for admission to neonatal unit (feeding difficulties/serious cardiac anomaly)
   - Investigations available to confirm the diagnosis of a chromosomal abnormality in the postnatal period
   - Other neonatal investigations required to identify co-morbidities (e.g. Down syndrome: assess for cardiac, blood, thyroid, hearing abnormalities)
Personal and Professional Skills 
   - Empathetic communication with family/whānau and sensitivity to parental anxiety which ensues when the possibility of an abnormality is raised
   - Referral to Paediatric Developmental services and social worker for a needs analysis
   - Discussion of options for continuing or termination of pregnancy in the context of fetal abnormality
   - Involvement of multidisciplinary team in cases of fetal abnormality
   - Impact on pregnant woman and her family/whānau of genetic counselling
   - Legal rights of the mother and fetus
Hauora Māori 
   - Access to antenatal screening in view of poorer antenatal care coverage for Māori
   - Appropriate engagement and consultation with whānau, as well as the patient
   - Health literacy needs of patient and whānau
   - Consideration of access to cultural/spiritual support for patient and whānau
Population Health 
   - Relationship between maternal age and the prevalence of trisomy 21
   - Long-term health care and educational needs of children with Down Syndrome
   - Difference between antenatal screening and diagnostic test for fetal abnormality
   - Epidemiology of Down syndrome and other common chromosomal and congenital fetal abnormalities
   - New Zealand pregnancy screening programme
   - Pre-pregnancy counselling to prevent diseases with clear causation: neural tube defects
Conditions to be considered relating to this scenario
normal baby, Down syndrome, smoking, substance abuse, teratogens, rubella, varicella-zoster virus, neural tube defects, fetal growth restriction
Less common but 'important not to miss'
haemoglobinopathies, congenital heart disease, HIV, syphilis, congenital diaphragmatic hernia, bowel obstruction
undiagnosed maternal pre-existing conditions such as diabetes, familial genetic abnormalities e.g. parental translocation or consanguinity