Fetal diagnosis & counseling of pregnancy options

• Options Available for Fetal Diagnosis • 1950s - Fetal screening/diagnosis using US • 1966 - Full karyotype using Amniotic fluid • 1968 - 1st reported Chorionic Villus Sampling • 1990-2000s - Rapid expansion of serum & – Family history: birth defects or genetic dz – Cystic Fibrosis, Sickle Cell, Tay-Sachs – Don’t want to miss window of opportunity – Desire to terminate if an abnormality is found – Desire to have as much information for preparation • A test done to identify a disease or defect by the application of tests, examinations or other procedures • Provides individual RISK ASSESSMENT• Ads: ↓ number of procedures done for diagnosis & therefore, ↓ procedure-related complications • A test that will definitively identify a – One that identifies all autosomal trisomies, sex chromosome aneuplodies, large deletions or duplications of chromosomes • Ads: DEFINITIVE ANSWER• Disads: Risks associated with the http://www.pennhealth.com/health_info/pregnancy/000242.htm • All women should be offered aneuploidy screening before 20 weeks, regardless of maternal age • Primary provider should be able to discuss the detection rates, false positive rates, disadvantages & limitations • Removal of blood from umbilical cord• Rarely done• Done when diagnostic information can not be obtained through amniocentesis, CVS, US or the results of these tests were inconclusive • Performed after 17 weeks• Potential indications: suspected fetal • Markers of Aneuploidy & Congenital Heart Disease – Anencephaly– Skeletal dysplasias– Renal agenesis – Congenital diaphragmatic hernia– Heart defects– Neural tube defects– Gastroschisis, Omphalocele recognize - awkward for them & patient • Express need to get as much information • Show empathy & compassion at all times• Allow the couple time to process the information• Provide them with additional resources – Genetic counselor, social work, literature, websites, families, pediatric surgeons, cardiologists • Do not let them leave your office without having all of their immediate questions answered & addressed • Encourage them to bring additional support people • Offer to meet with them again at anytime – Allows parents to spend time with fetus • Hotly debated• Neuroanatomical system complete by 26 weeks• A developed neuroanatomical system is necessary but not sufficient for pain experience • Pain experience also requires development of the mind to accommodate the subjectivity of pain • NOT REALLY KNOWN • May consider intracardiac injection of KCl prior – Continued, regular prenatal care– Social work– Local & online support groups– Perinatal hospice organizations • Encourage them to make plans for delivery – Birth plan, support people– Surgical intervention for fetal distress • Encourage them to make plans for after delivery – Neonatal resuscitation or interventions?– Neonatologist http://video.on.nytimes.com/index.jsp?auto_band=x&rf=sv& fr_story=79cf26acead199fa0a000074e41deda20072c923 • Alternative to conventional prenatal • Biopsy of 1-2 cells from an in vitro embryo • Allows couples to avoid intrauterine – Avoid procedure related pregnancy loss – Can only be done for anomalies associated with cytogenetic or single gene disorders "All women, regardless of age, should have the option of invasive testing. A woman's decision to have an amniocentesis or CVS is based on many factors, including the risk that the fetus will have a chromosomal abnormality, the risk of pregnancy loss from an invasive procedure, and the consequences of having an affected child if diagnostic testing is not done. Studies that have evaluated women's preferences have shown that women weight these potential outcomes differently. The decision to offer invasive testing should take into account this preference sand should not be solely age based. The differences between screening and diagnostic testing should be discussed with all women. Thus, maternal age of 35 years alone should no longer be used as a cutoff to determine who is offered screening versus who is offered invasive testing." • Goal of MPR is to reduce the risk of complications associated with higher order pregnancies by decreasing the number of fetuses in the gestation • Goal of ST is to prevent the survival of a severely impaired fetus of a multiple pregnancy in which the fetuses are discordant for anomalies • Managing the remaining weeks of the pregnancy • Determining the outcome of the pregnancy • Planning for possible complications with the birth • Planning for problems that may occur in the • Deciding whether to continue the pregnancy • Finding conditions that may affect future

Source: http://www.obsafety.org/pdf/FetalDiagnosis.pdf