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ANTENATAL CARE AND ANOMALY SCREENING

ANTENATAL CARE AND ANOMALY SCREENING. DR. AKINWUNMI L. AKINWUNTAN M.B;B.S( Ib ), MHS Pop & RH ( Ib ), FMCOG(Nig), FWACS. Having a baby is one of the most important times in a woman’s life and healthcare professionals want to make sure this is a good and safe experience NICE 2008.

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ANTENATAL CARE AND ANOMALY SCREENING

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  1. ANTENATAL CARE AND ANOMALY SCREENING DR. AKINWUNMI L. AKINWUNTAN M.B;B.S(Ib), MHS Pop & RH (Ib), FMCOG(Nig), FWACS

  2. Having a baby is one of the most important times in a woman’s life and healthcare professionals want to make sure this is a good and safe experience NICE 2008

  3. INTRODUCTION Antenatal care includes Recording medical history, Assessment of individual needs, Advice and guidance on pregnancy and delivery, Screening tests, Education on self-care during pregnancy, Identification of conditions detrimental to health during pregnancy, First-line management and referral if necessary

  4. Aims of Antenatal Care • Management of maternal symptomatic problems. • Management of fetal symptomatic problems. • Screening and prevention of fetal problems. • Preparation of the mother for childbirth. • Preparation of the couple for childbearing.

  5. Prenatal care generally consists of: • monthly visits during the first two trimesters (from week 1–28) • fortnightly from 28 to week 36 of pregnancy • weekly after week 36 (delivery at week 38–40) • Assessment of parental needs and family dynamic

  6. The essential elements of afocused approach to antenatal care • Identification and surveillance of the pregnant woman and her expected child • Recognition and management of pregnancy-related complications, particularly pre-eclampsia • Recognition and treatment of underlying or concurrent illness

  7. Screening for conditions and diseases such as anaemia, STIs (particularly syphilis), HIV infection, mental health problems, and/or symptoms of stress or domestic violence • Preventive measures, including tetanus toxoid immunization, de-worming, iron and folic acid, intermittent preventive treatment of malaria in pregnancy (IPTp), insecticide treated bed nets (ITN)

  8. Advice and support to the woman and her family for developing healthy home behaviours and • A birth and emergency preparedness plan to • Increase awareness of maternal and newborn health needs • Promote healthy behaviours in the home • Help the pregnant woman and her partner prepare emotionally and physically

  9. ANOMALY SCREENING/PRENATAL SCREENING/DIAGNOSIS • REASONS • To enable timely medical/surgical intervention before or after birth • To give the parents opportunity to decide on termination or otherwise • To allow for parents to prepare psychologically, financially and socially for a baby with a defect

  10. FIRST TRIMESTER SCREENING • Is a optional non-invasive evaluation that combines maternal blood screening test with ultrasound evaluation • Is the most accurate non-invasive screening method available NEJM Nov 2005 • The combined accuracy rate for the screen to detect the chromosomal abnormalities ie Trisomy 21 and 18 is approximately 85% with a false positive rate of 5%

  11. FIRST TRIMESTER SCREENING • This simply means: • Approximately 85 out of every 100 babies affected by the abnormalities addressed by the screen will be identified • Approximately 5% of all normal pregnancies will receive a positive result or an abnormal level • A positive test means that you have a 1/100 to 1/300 chance of experiencing one of the abnormalities

  12. FIRST TRIMESTER SCREENING It is important to realize that a positive result does not equate to having an abnormality, but rather serves as a prompt to discuss further testing

  13. TRIPLE TESTS/TRIPLE SCREENING • Also known as the: • Kettering or Bart’s test • Multiple Marker Screening Test • Performed during the 2nd trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects) • Other possible conditions: Turners’ syndrome, Triploidy, Trisomy 16 mosaicism

  14. The triple test measures the following three levels in the maternal serum: • alpha-fetoprotein (AFP) • human chorionic Gonadotrophin (hCG) • unconjugated estriol (UE3)

  15. INTERPRETATION OF TRIPLE TEST An Estimated risk is calculated and adjusted for the mother’s age, weight and Ethnicity

  16. QUADRUPLE (QUAD) TEST • TRIPLE TEST PLUS • SERUM INHIBIN A • High in Trisomy 21 • Low in Trisomy 18 • The test in done btw 15wkto 22wk + 6days • 81% sensitive and 5% false positive

  17. ANOMALY SCREENING • NUCHAL SCAN • Assesses the soft tissue thickness at the nape of the neck • Carried out between 11 to 13 wks + 6 days • Helps to identify higher chances of Chromosomal problems eg Down’s Syndrome • Higher thickness also in Congenital Heart Defects

  18. NUCHAL SCAN • NUCHAL TRANSLUCENCY • Measured earlier in pregnancy at the end of the first trimester: 10 to 14 weeks • The max thickness of the translucent area btw the fetal skin and the soft tissue overlying the cervical spine • Normal thickness < 2.5mm • PLUS FETAL HEART RATE VARIATION • OTHER SOFT MARKERS • Short Femur, Mild Pyelectasis, Ventriculomegaly, Choroid plexus cyst, Hyperechoic bowel, Echogenicintracardiac foci, 2 vessel umbilical cord and abnormalities of extremities

  19. AMNIOCENTESIS • Performed at 15 to 16 weeks • Most commonly used prenatal genetic diagnostic test • Cultured amniotic fluid cells are karyotyped • To evaluate level of AFP • To determine haematologic disorders like SCD, Thalassemia etc • Performed under sonographic guidance • Culturing of amniocytes takes about 15 days • Risk of pregnancy loss like 1: 200

  20. CHORIONIC VILLUS SAMPLING • Chorionic villus sampling (CVS) is usually performed between 10 and 12 weeks of gestation • Involves aspiration of placental tissue rather than amniotic fluid • CVS can be transabdominal or transcervical • Pregnancy loss rate about 1-2% • Has its advantages – terminations can be early

  21. PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS) • USS- guided umbilical blood sampling • Performed as early as 16-18 weeks till term • INDICATION • Rapid Karyotyping • Dx and Rx of inheritable disoders • Fetal Anaemia • Severe red blood cell alloimmunization • Nonimmune fetal hydrops

  22. CELL FREE FETAL DNA • Available in the United States beginning 2011 • Based on DNA of fetal origin circulating in the maternal blood • Testing can potentially identify fetal aneuploidy and gender of a fetus as early as 6 weeks • Fetal DNA ranges from about 2-10% of the total DNA in maternal blood • Cell types- Nucleated RBC, CD34+ & Trophoblasts

  23. EMBRYOSCOPY/FETOSCOPY • Rarely done • Involve putting a probe into a women's uterus to observe (with a video camera) under local anaesthesia • To sample blood or tissue from the embryo or fetus • Therapeutic laser coagulation of placental vessels in feto-fetal transfusion syndrome

  24. CONCLUSION • PD is best performed in a multidisciplinary setting involving experienced Counsellors, experts ultrasonographers, geneticists, maternal fetal medicine and neonatal cares • There are lots of ethical considrations involved • Maternal/Parental anxieties should be addressed

  25. THANK YOU

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