Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient

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1 Genetic Screening and Pregnancy: Selecting the Best Test for Your Patient Britton Rink, MD, MS The Ohio State University Division of Maternal Fetal Medicine

2

3 ACOG Practice Bulletin January 2007 Screening and invasive testing options should be available to all women REGARDLESS of maternal age

4 Low risk pregnant woman The Ohio State University Algorithm for Aneuploidy Detection High risk pregnant woman Direct Patient Inquiry Genetic Counseling Ultrasound abnormality Traditional screening 1 st trimester nuchal and AFP Second trimester quad screen Declines screening/testin g Negative NIPT (> 10 wks) Borderline Diagnostic testing CVS (10+ wks) Amnio (> 15 wks) Positive No further testing Recommend diagnostic testing Confirm with diagnostic testing Positive If negative, consider CMP vs. false positive Genetic counseling to discuss results

5

6 SCREENING vs. INVASIVE testing

7 Maternal Screening Maternal serum markers and ultrasound markers to detect increased risk of fetal trisomy 21, trisomy 18 and/or neural tube defects 1 st trimester maternal serum screening (with or without nuchal translucency measurement) 2 nd trimester maternal serum screening Other variations combining 1 st and 2 nd trimester screening results Ultrasound Circulating cell free fetal DNA

8 Screening Patient education points: This is only a screening test The test is optional A negative result does not guarantee a healthy baby A positive result does not mean that the baby has a problem, BUT further testing (ultrasound & CVS or amniocentesis) would be offered Offered to all patients regardless of age there is a small risk in every pregnancy for these conditions

9 Detection of Aneuploidy

10 Trisomy 21 Trisomy 18 Trisomy 13 First trimester screening? Congenital heart disease Other genetic conditions with increased NT DOES NOT SCREEN FOR NTD Second trimester screening Trisomy 21 Trisomy 18 NTD

11 FIRST TRIMESTER

12 First trimester: Serum and Ultrasound Nuchal Translucency Nasal Bone Free beta hcg and pregnancy-associated plasma protein A (PAPP-A) Free beta hcg PAPP-A

13 Nuchal Translucency

14 Criteria for proper measurement of nuchal translucency Gestation wks Crown-rump length mm Mid-sagittal view Image size: head and thorax Neutral position Away from amnion Maximum lucency Callipers on-to-on Nicolaides KH. Fetal nuchal translucency. Am J Obstet Gynecol 2004

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16 Clinical Scenario Mrs. Smith 32 y.o. G2P1001 at 11 weeks with prior child who had hypoplastic left heart syndrome. What do you tell her about screening for CHD using nuchal translucency?

17 Nuchal Translucency and CHD

18 Nuchal Translucency and CHD Fetuses with increased NT have an increased risk for congenital heart disease no particular bias for one form of CHD over another NT measurement is only a modestly effective screening tool for all CHD when used alone Simpson et al. (FASTER Consortium 2007) prospective study of fetuses, found a sensitivity of only 15.4% using 2.0 multiples of the median (MoM) nuchal measurement it may indeed be effective in identifying specific CHD likely to benefit from prenatal diagnosis Combination of an increased NT, tricuspid regurgitation and an abnormal ductus venosus (DV) Doppler flow profile, is a strong marker for CHD

19 Clinical Scenario Mrs. Jones 38 y.o. G1P0 now at 20 weeks who was seen by MFM for increased nuchal translucency 4.0mm. She underwent CVS with normal karyotype and just had normal fetal echo. What should you tell her about potential outcomes for this pregnancy with all normal results?

20 Counseling What is the change of a normal pregnancy outcome with normal karyotype?

21 Nasal Bone Midface hypoplasia

22 Nasal Bone Nasal skin No bone present

23 Nasal Bone Absent in 1% fetuses normal karyotype Absent in 1 st and 2 nd trimester 60-65% fetuses with Down syndrome Absence in ethnic variation: African 5.8% Asian 3.4% Caucasian 2.6%

24 Clinical Scenario Mrs. Sanchez 37 y.o. G3P2002 at 11 weeks presents requesting most sensitive SCREENING test. She is not interested in invasive testing. What should you offer her?

25 Circulating cell free fetal DNA

26 Circulating cell free fetal DNA

27 Circulating cell free fetal DNA

28 Circulating cell free fetal DNA 4 labs offer the test clinically Evaluates chromosomes X,Y,13, 18 and 21 Fetal RhD genotyping Different modalities of DNA analysis by each company Cost Genetic Counseling pretest and posttest counseling

29

30

31 Circulating cell free fetal DNA (ccfdna) Non invasive prenatal testing (NIPT) THIS IS A SCREENING TEST A patient with a positive test result should be referred for genetic counseling and should be offered invasive prenatal diagnosis for confirmation of test results A negative cell free fetal DNA result does not ensure an unaffected pregnancy Cell free fetal DNA testing should not be offered to low-risk women or women with multiple gestations because it has not been sufficiently evaluated in these groups YET

32 Second Trimester

33 Quad Screen Analytes used (with maternal age): Alpha-fetoprotein (AFP) Unconjugated estriol (ue3) Beta-Human Chorionic Gonadotropin (b-hcg) Inhibin A Inhibin A not used in calculation of risk for trisomy 18

34 SCREENING ULTRASOUND

35 Screening Ultrasound Nuchal translucency (NT) and nasal bone (NB) Each with ~ 70% sensitivity detection DS Fetal anatomy weeks Offered for significant family history of detectable structural defects or genetic syndrome(s), for f/u of positive serum screens, for prenatal history of known teratogens, etc. Genetic Sonogram sensitivity 75% detection DS * Benacerraf, 2005

36 Second Trimester Ultrasound

37 Clinical Scenario 34 year-old G1P0 presents for second trimester ultrasound evaluation. Which of these findings is associated with the highest likelihood ratio for trisomy 21? Nuchal skin fold > 6mm Short humerus Echogenic bowel Echogenic intracardiac focus

38 Screening for Down Syndrome

39 Clinical Scenario 28-year old non-hispanic white G1P0 undergoes mutation analysis for the recommended 23 mutations in the cystic fibrosis gene. She is not a carrier. TRUE/FALSE: Based on this test result, the patient has no risk of having a child with cystic fibrosis. FALSE

40 Ethnicity-Based Genetic Carrier Screening Purpose: To detect couples at risk for prenatally diagnosable genetic diseases Tests offered based on ethnic background Should be offered to patients: Seeking preconception counseling, OR Seeking infertility care, OR During the first or early second trimester of pregnancy

41 African-American Carrier Frequencies based on Ethnic Origin Population Condition Carrier Frequency Sickle Cell Cystic Fibrosis Beta-Thalassemia 1 in 10 1 in 65 1 in 75 Ashkenazi Jewish Gaucher disease Cystic Fibrosis Tay-Sachs disease Dysautonomia Canavan disease 1 in 15 1 in 26 1 in 29 1 in 30 1 in 32 1 in 40 Asian Alpha-Thalassemia Beta-Thalassemia 1 in 20 1 in 50 European American Cystic Fibrosis 1 in 25-1 in 29 French Canadian, Cajun Hispanic Mediterranean Tay Sachs disease 1 in 30 Cystic Fibrosis Beta-Thalassemia Beta-Thalassemia Cystic Fibrosis Sickle Cell 1 in 46 1 in 30-1 in 50 1 in 25 1 in 29 1 in 40

42 Ethnicity-Based Genetic Carrier Screening Ashkenazi Jewish Carrier Testing recommended by ACMG and ACOG Bloom syndrome Canavan disease Cystic fibrosis Familial dysautonomia Fanconi anemia group C Gaucher disease Mucolipidosis type IV Niemann-Pick disease type A Spinal Muscular Atrophy (SMA) Tay-Sachs disease

43 Genetic Screening Spinal Muscular Atrophy ACOG: preconception and prenatal screening for SMA is not recommended in the general population at this time. ACMG: Because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity. Fragile X ACOG/ACMG: Women with a family history of fragile X- related disorders, unexplained mental retardation or developmental delay, autism, or premature ovarian insufficiency are candidates for genetic counseling and fragile X premutation carrier screening.

44 Although personalized genomic tests that provide information regarding the risk of development of multiple diseases may be important tools in the near future, their use is not recommended outside of a clinical trial until these tests are validated as clinically useful in appropriately designed prospective studies.

45 FUTURE

46 THANK YOU!

47 Background: Fetal Nucleic Acids in Maternal Plasma First report of free fetal DNA in maternal circulation. (Lo YMD et al. Lancet 1997;350:485-7) Fetal DNA clears rapidly from maternal circulation after the baby is delivered. (Lo YMD et al. Am J Hum Genet 1999;64:218-24) First report of free fetal RNA in maternal circulation. (Poon LLM et al. Clin Chem 2000;46:1832-4) Prenatal diagnosis of fetal RHD status by molecular analysis of maternal plasma. (Lo YMD et al. N Engl J Med 1998;339:1734-8)

48 Options for Prenatal Diagnosis Amniocentesis Samples amniotic fluid 15 weeks earliest 1/200-1/300 risk of miscarriage CVS Usually done between weeks gestation Samples placental tissue 1/100 risk for miscarriage? Limb reduction defects

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