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PRENATAL DIAGNOSIS AND SCREENING

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Title: PRENATAL DIAGNOSIS AND SCREENING


1
PRENATAL DIAGNOSIS AND SCREENING
M Huggins, 2008
2
Learning Objectives
  • Discuss current guidelines for Prenatal Screening
    and Diagnostic testing
  • Review the biochemical markers used in each
    Prenatal screening method
  • Understand the importance of accurate clinical
    information in prenatal screening
  • Emphasize the underlying theme of informed
    decision making

3
You are seeing a 42 Year old woman for first PN
visit at 10 weeks of gestation.
  • What is her risk of Down syndrome?
  • What options can you offer her?

Are your answers different if she is 32 years old?
4
Canadian Guidelines for Prenatal
DiagnosisGENETIC INDICATIONS FOR PRENATAL
DIAGNOSIS(CCMG / SOGC, 2001)
  • The traditional recommendation is that all women
    who will be 35 years of age or older on the
    estimated date of delivery should be offered
    invasive prenatal testing

5
Prenatal Screening for Fetal AneuploidySOGC
Practice Guideline(CCMG / SOGC, 2007)
  • Maternal age screening is a poor minimum standard
    for prenatal screening for aneuploidy and should
    be removed as an indication for invasive testing.
  • Amniocentesis/chorionic villi sampling (CVS)
    should not be provided without multiple marker
    screening results except for women over the age
    of 40. Patients should be counselled accordingly.

6
ACOG Practice BulletinScreening for Fetal
Chromosomal Abnormalities(Obstet Gynecol, 2007)
  • Screening and invasive diagnostic testing for
    aneuploidy should be available to all women who
    present for prenatal care before 20 weeks of
    gestation regardless of maternal age.
  • Women should be counseled regarding the
    differences between screening and invasive
    diagnostic testing.

7
Prenatal Screening Options
  • First Trimester Screening (FTS)
  • Maternal Serum Screening (MSS)
  • Integrated Prenatal Screening (IPS)

8
IPS and MSS Screen for Which of the Following
Conditions?
  • Down syndrome
  • Trisomy 18
  • Trisomy 13
  • Neural tube defects
  • All of the above

9
IPS and MSS Screen for Which of the Following
Conditions?
  • Down syndrome
  • Trisomy 18
  • Trisomy 13
  • Neural tube defects
  • All of the above

10
Maternal Serum Markers Can you Name Them?
  • First Trimester
  • Second Trimester

11
Maternal Serum Markers Can you Name Them?
  • First Trimester Papp-A free beta hcG
  • Second Trimester AFP
  • uE3
  • hcG
  • Inhibin-A

Are they low or high in Down syndrome?
12
Maternal Serum Markers in Down syndrome
pregnancies
  • First Trimester Papp-A (0.4 x normal) hcG
    (2.0 x normal)
  • Second Trimester AFP (0.75 x normal)
  • uE3 (0.72 x normal)
  • hcG (2.0 x normal)
  • Inhibin-A (2.0 x normal)

13
Prenatal Screening Options
  • First Trimester Screening (FTS)
  • Maternal Serum Screening (MSS)
  • Integrated Prenatal Screening (IPS)

14
First TrimesterCombined Screening (FTS)
  • When maternal age, NT, CRL, PAPP-A
  • and free beta are combined
  • (week 11 to 14)
  • Detection rate T21 83
  • Detection rate T18 91
  • False positive rate 5

Cut off for positive 1 in 350 DS
15
Second Trimester Screening (MSS, Quad Screen)
  • When AFP, uE3, hCG and inhibin-A are combined
    with maternal age
  • (week 15 to 20)
  • detection rate DS 81
  • T18 65
  • ONTD 85
  • false positive rate 5

Cut off for positive 1 in 200 DS
16
Maternal Serum Screening (MSS, triple screen)
(no longer in use)
  • When maternal age, AFP, uE3 and hCG are combined
  • (week 15 to 20)
  • detection rate 70
  • false positive rate 8
  • screens for Down syndrome, trisomy 18 and NTD

Cut off for positive 1 in 385 DS
17
Integrated Prenatal Screening (IPS)
  • Part One 11-14 weeks
  • NT ultrasound
  • PAPP-A
  • Part Two 15-18 weeks
  • AFP
  • uE3
  • hCG
  • Results reported only after Part Two
  • Detection rate T21 88 T18 90
  • Detection rate NTD 85
  • False positive rate 3

Cut off for positive 1 in 200 DS
18
The Process of Prenatal Screening
  • The results take 2 to 4 days to be reported
    (after the second blood test for IPS).
  • Positive (high risk) results are reported by
    telephone or fax, while negative (low risk)
    results are sent in the mail.
  • If the screen is positive, genetic counselling is
    available to discuss the risks and benefits of
    diagnostic testing (either CVS or amniocentesis,
    depending on gestational age and availability of
    CVS).

19
An Example of Prenatal Screening Introducing
April
  • 38 year old Black woman
  • 12 weeks pregnant
  • Healthy 2 year old son, full term vaginal
    delivery
  • Family history is non-contributory

What is her risk of Down syndrome? Any other
genetic issues?
20
April Is 38 Years Old
  • Risk of Down syndrome 1 / 175
  • Total risk of aneuploidy 1 / 100
  • 12 weeks pregnant
  • Family history non-contributory
  • Hemoglobinopathy screening negative

Prenatal Screening Options for April?
21
Aprils Chooses IPS
  • Nov 2nd first PN visit, requests IPS (12w1d)
    book an ultrasound for NT, prepare requisitions
    for part I and part II, decide when part II will
    be done
  • Nov 9th ultrasound for NT, part I IPS (13w1d)
  • Nov 21st part II IPS, bloodwork only (15w0d)
    reminder sent from screening lab if sample not
    received by 17w6d
  • Nov 24th IPS positive, report sent to ordering
    physician or midwife by phone or fax from the
    reporting centre PND clinic on behalf of the CVH
    screening lab

22
Aprils IPS Result
  • Maternal Age at EDD 38.1 years
  • Gestational Age 1st sample 13w1d
  • Gestational Age 2nd sample 15w0d
  • Nuchal 2.0 mm 1.08 MoM AFP 0.47 MoM
  • PAPP-A 0.34 MoM uE3 0.67 MoM hCG 1.52
    MoM

Risk of Down syndrome 1 in 14 Risk of NTD 1 in
11000
Screen Positive for Down syndrome
23
Aprils IPS Result
  • What is the chance that Aprils baby has Down
    syndrome?

Risk of Down syndrome 1 in 14 Approximately 7
24
Screen Positive for Down syndrome
  • What happens next?

25
The Prenatal Diagnosis Clinic
  • Genetic Counsellors, Genetic Nurse
  • Sarah Ruddle, Marlene Huggins, Gwen White
  • Physicians
  • Dr. Mohide, Dr. Winsor, Dr. Defrance, Dr.
    McDonald
  • (Dr. Smith, Dr. Mueller, Dr. Brennan, Dr.
    Muggah)
  • Business Clerks
  • Lynn Watson, Dianne Maynard, Joanne Whittaker
  • Clinical Manager
  • Kathy Clark

26
Who We Serve
  • Hamilton, Central West and Central South Regions
  • Population 2.2 million, 22000 births
  • 7 counties
  • 9 cities Hamilton, Burlington, Guelph,
    Cambridge, Kitchener-Waterloo, Brantford,Niagara
    Falls, St. Catharines, Welland
  • 9 towns Fergus, Arthur, Paris, Simcoe,
    Dunnville, Fort Erie, Port Colborne, Grimsby,
    Niagara-on-the-Lake
  • 10 hospitals with birthing units
  • Multicultural complexity
  • Hamilton has a high proportion of immigrants
  • Mennonites in Kitchener area
  • Brant Reserve

27
Central West and Central South Regions
28
Who we see
  • Late maternal age (LMA)
  • Positive prenatal screening
  • (T21, NTD , T18)
  • Abnormal community ultrasound
  • Suspected anomalies
  • Soft signs
  • Past history / family history of congenital
    anomalies, abnormal chromosomes or genetic
    conditions
  • Exposure to potentially harmful drugs, infections
    or toxins
  • Pre-conception counselling

29
Aprils Experience with Prenatal Diagnosis
  • November 30th (16w2d)
  • PND clinic consultation
  • genetic counselling
  • Option to do same day amniocentesis

30
Counselling Patients About Abnormalities
  • What do we know and what do we not know?
  • What are the possibilities? (ie the difference
    between a screening result and a diagnosis)
  • Options for further testing risks and benefits
    (either for delivery planning or for
    decision-making about TOP)
  • Prognosis for survival prognosis for
    developmental outcome
  • Availability of specialist consultations

31
Aprils Amniocentesis Result
32
Aprils Experience with Prenatal Diagnosis
  • Nov 30th seen for genetic counselling, requests
    amniocentesis, done same day (16w2d)
  • Dec 15th karyotype 47,XX,21
  • Phone call to April to tell her the result
  • Dec 19th seen for genetic counselling (18w5d)

33
Counselling Patients About Abnormalities
  • What do we know and what do we not know
  • What are the possibilities (ie the difference
    between a screening result and a diagnosis)
  • Options for further testing either for delivery
    planning or for decision-making
  • Prognosis for survival prognosis for
    developmental outcome
  • Availability of specialist consultations

34
Genetic Counselling
  • Guilt and blame
  • Comprehension of complex medical information
  • Personal supports
  • Social context
  • Grief and anger
  • Decision-making

35
Counselling patientscontd
  • Who to tell, how to tell?
  • Why did this happen, will it happen again?
    (possible need for further testing eg autopsy)
  • What will we tell the other children?
  • Induction of labour vs DE
  • Possible need (or choice) for burial / cremation

36
Aprils Experience with Prenatal Diagnosis
  • Nov 30th seen for genetic counselling, requests
    amniocentesis, done same day (16w2d)
  • Dec 15th karyotype 47,XX,21
  • Phone call to April to tell her the result
  • Dec 19th seen for genetic counselling (18w5d)

Undecided, requests ultrasound for more
information
37
How Is April Doing?
  • Dec 19th seen for genetic counselling (18w5d)
  • Known trisomy 21
  • Undecided, requests ultrasound for more
    information
  • December 28th no major anomalies, NF8mm,
    echogenic intracardiac focus (soft markers for
    Down syndrome)
  • Met with social worker, genetic counsellor,
    obstetrician.

38
  • April requested pregnancy termination,
  • and was admitted for induction of labour on Jan
    5th at 21w5d of gestation

39
Prenatal Screening in Ontario
  • First Trimester Screening (FTS)
  • Second Trimester Screening (MSS) (quad screen in
    Ontario)
  • Integrated Prenatal Screening (IPS)
  • Nuchal Translucency ultrasound (for twins, not
    recommended for singletons without biochemistry)
  • Ultrasound (18 20 weeks) current standard of
    care for all patients

Patients option to decline
40
PRENATAL SCREENINGClinical Information Needed
  • Date of Birth for age related a priori risk
  • Gestation by LMP or by ultrasound
  • Multiple Gestation AFP increases with number of
    babies serum screening for DS not available for
    multiples
  • Maternal Weight marker levels decrease with
    increasing maternal weight, most important for
    AFP

41
PRENATAL SCREENINGClinical Information Needed
  • Diabetic Status Why is it important for prenatal
    screening?
  • Maternal IDDM increases the risk of ONTD
  • MSAFP is lower in women with IDDM

42
PRENATAL SCREENINGClinical Information Needed
  • Race why is it important for prenatal screening?

Blacks have higher MSAFP and lower population
prevalence of ONTD
43
Prenatal Screening
  • Case Examples
  • (Trouble-shooting)
  • Gestational age
  • Maternal Weight
  • Maternal Race
  • Abnormal NT
  • part II IPS not done

44
Screen Positive for Down Syndrome Gestational
Age?
  • Maternal Age at EDD 20.1 years
  • Gestational Age 20w1d by LMP
  • AFP 0.53 MoM
  • uE3 0.56 MoM
  • hCG 2.91 MoM
  • InhibinA 1.66 MoM
  • Risk of Down syndrome 130

45
Screen Positive for Down SyndromeGestational
Age?
  • Gestational Age (20w1d) AFP 0.53 MoM
  • uE3 0.56 MoM
  • hCG 2.91 MoM
  • InhibinA 1.66 MoM
  • 16w5d by BPD
  • AFP 0.94 MoM
  • uE3 1.23 MoM
  • hCG 2.05 MoM
  • InhibinA 1.99 MoM
  • Risk of Down syndrome 11400
  • INTERPRETATION SCREEN NEGATIVE

46
MSS Positive for Down SyndromeCorrect
gestational age?
  • Maternal Age at EDD 37.4 years
  • Gestational Age 19w6d by u/s
  • AFP 0.59 MoM
  • uE3 0.82 MoM
  • hCG 1.54 MoM
  • Inhibin-A 0.81 MoM
  • Risk of Down syndrome 1180

47
MSS Positive Down SyndromeTranscription Error
CRL vs BPD
  • Maternal Age at EDD 37.4 years
  • Ultrasound BPD 15 mm (10w6d)
  • Gestational Age (19w6d)
  • AFP 0.59 MoM
  • uE3 0.82 MoM
  • hCG 1.54 MoM
  • Inhibin-A 0.81 MoM

CRL 15 mm (8w0d) 17w0d at MSS AFP 0.95
MoM uE3 1.58 MoM hCG 1.16 MoM Inhibin-A
0.94 MoM
  • Risk of Down syndrome 1880
  • INTERPRETATION SCREEN NEGATIVE

48
Practical Tidbit
  • Accurate dating (by ultrasound) is important for
    correct interpretation of prenatal screening
  • Less critical for IPS since ultrasound is
    incorporated (CRL correlated with NT)
  • Dont forget to check dates even if MSS is
    negative

49
Prenatal Screening
  • Case Examples
  • (Trouble-shooting)
  • Gestational age
  • Maternal Weight
  • Maternal Race
  • Abnormal NT
  • part II IPS not done

50
IPS positive for Down syndromePatients Weight
not provided
  • Maternal Age at EDD 36.8 years
  • Gestational Age 1st sample 13w3d
  • Gestational Age 2nd sample 16w3d
  • Nuchal 2.0mm 0.40 MoM AFP 0.40 MoM
  • PAPP-A 0.38 MoM uE3 0.65 MoM hCG 0.80
    MoM

Risk of Down syndrome 170 Risk of NTD 113000
51
IPS positive Patients Weight included
  • Maternal Age at EDD 36.8 years
  • Weight not known
  • Gestational Age 16w3d by U/S
  • AFP 0.40 MoM
  • uE3 0.65 MoM
  • hCG 0.80 MoM
  • PAPP-A 0.38 MoM

Weight 295 lbs AFP 0.70 MoM uE3 0.89
MoM hCG 1.37 MoM PAPP-A 1.52 MoM
  • INTERPRETATION SCREEN NEGATIVE
  • (Down syndrome 13100 NTD 114000)

52
IPS positive forDown syndrome and T18 Correct
Information?
  • Maternal Age at EDD 30.9 years
  • Gestational Age 1st sample 12w3d
  • Gestational Age 2nd sample 15w1d
  • NT 1.3mm 0.88 MoM AFP 0.73 MoM
  • PAPP-A 0.15 MoM uE3 0.55 MoM hCG 0.64
    MoM

Risk of Down syndrome 1180 Risk of trisomy 18
114
53
Screen Positive Corrected Patients Weight
  • Maternal Age 33 years
  • Weight 117.5 lbs
  • Gestational Age 16w2d
  • AFP 0.73 MoM
  • uE3 0.55 MoM
  • hCG 0.64 MoM
  • PAPP-A 0.15 MoM

Weight 117.5 kg AFP 1.34 MoM uE3 0.66
MoM hCG 1.09 MoM PAPP-A 0.28 MoM
  • INTERPRETATION SCREEN NEGATIVE
  • (Down syndrome 13200 T18 no number reported if
    negative)

54
Prenatal Screening
  • Case Examples
  • (Trouble-shooting)
  • Gestational age
  • Maternal Weight
  • Maternal Race
  • Abnormal NT
  • part II IPS not done

55
Screen positive NTDCorrect Information?
  • Maternal Age at EDD 33.0 years
  • Gestational Age 16w2d by U/S
  • AFP 2.27 MoM
  • uE3 0.49 MoM
  • hCG 1.78 MoM

Risk of Open Spina Bifida 1399
56
Screen Positive NTDCorrected Patients Race
  • Maternal Age at EDD 33 years
  • Race Caucasian
  • Gestational Age 16w2d by U/S
  • AFP 2.27 MoM
  • uE3 0.49 MoM
  • hCG 1.78 MoM

Race Black AFP 2.06 MoM uE3 0.49 MoM hCG
1.78 MoM
  • Risk of Spina Bifida 11300
  • INTERPRETATION SCREEN NEGATIVE

57
Prenatal Screening
  • Case Examples
  • (Trouble-shooting)
  • Gestational age
  • Maternal Weight
  • Maternal Race
  • Abnormal NT
  • part II IPS not done

58
Patient chose IPS, but NT is abnormal
  • Maternal Age at EDD 37.8 years
  • CRL 56.9mm 12w2d
  • Nuchal Translucency 3.8 mm 3.01 MoM
  • (ideally, reported by phone or fax from the
    ultrasound unit)

59
Abnormal NTOption to change IPS to FTS
  • Maternal Age at EDD 37.8 years
  • CRL 56.9mm 12w2d
  • Nuchal Translucency 3.8 mm 3.01 MoM
  • (discuss with patient, call or fax the screening
    lab)
  • PAPP-A 0.43 MoM
  • free beta hCG 1.73 MoM

Risk of Down syndrome 2 in 3
60
FTS positive DS 2 in 3
  • Ultrasound, blood drawn Feb 9th (12w2d)
  • FTS report Feb 15th
  • Seen in PND clinic Mar 3rd (15w3d).
  • Amniocentesis same day.
  • (could have been CVS if referred sooner)

Karyotype 47, XY, 21 Mar 17th (17w3d)
61
Practical Tidbit
  • Abnormal nuchal translucency should be treated as
    any other abnormal ultrasound finding
  • Discuss options with patient, refer for genetic
    counselling and / or further testing as needed
  • BUT normal NT is not a stand alone test for
    aneuploidy screening

62
Prenatal Screening
  • Case Examples
  • (Trouble-shooting)
  • Gestational age
  • Maternal Weight
  • Maternal Race
  • Abnormal NT
  • part II IPS not done

63
IPS Requires Both Part I and Part II
  • Maternal Age at EDD 34.8 years
  • CRL 63.3 mm 12w4d
  • Nuchal Translucency 1.5 mm 1.10 MoM

No result, waiting for part II serum
screening. Notification from lab at 17w6d when
part II not recd Report issued at 20w6d when
part II still not recd.
64
IPS Requires Both Part I and Part II
  • Maternal Age at EDD 34.8 years
  • CRL 63.3 mm 12w4d
  • Nuchal Translucency 1.5 mm 1.10 MoM

PAPP-A 0.53 MoM free beta hCG 4.43 MoM
Risk of Down syndrome 1 in 180 (reported at 21
weeks of gestation) Counselling Issues?
65
Practical Tidbit
  • Timing for IPS is determined by CRL
  • (range for part I from 45 to 84 mm, or BPD less
    than 26.2 mm)
  • If you dont complete IPS II before 17 6/7 weeks
    (according to the CRL for IPS I), they will send
    a reminder.
  • If IPS II not received by 20 6/7, they will
    report FTS.

66
Prenatal Screening
  • A Few More Case Examples
  • Dont be too pessimistic
  • Ride the PND roller coaster
  • Screening for other conditions

67
IPS positive Down syndrome
  • Maternal Age at EDD 35.8 years
  • Gestational Age 1st sample 13w2d
  • Gestational Age 2nd sample 17w1d
  • Nuchal 2.8 mm 3.01 MoM AFP 0.84 MoM
  • PAPP-A 0.43 MoM uE3 0.75 MoM hCG 1.73
    MoM

Risk of Down syndrome 9 in 10 Risk of NTD 1
in 16000
68
Screen positive DS 9 in 10
  • Seen in PND clinic (19w2d).
  • G3, 2 healthy children at home.
  • Family history of a paternal aunt with Down
    syndrome, another relative possible DS.
  • Maternal karyotyping recommended (normal result).
  • Amniocentesis same day.
  • PI FISH Normal final karyotype Normal
  • Ultrasound Normal (21w2d)

Whats the diagnosis?
69
Prenatal Screening
  • A Few More Case Examples
  • Dont be too pessimistic
  • Ride the PND roller coaster
  • Screening for other conditions

70
Case ExampleRide the PND roller coaster
  • 26 year old,, first pregnancy
  • routine prenatal screening

Gestational Age 20w0d AFP 5.54 MoM uE3
0.82 MoM hCG 0.85 MoM Inhibin-A 0.56 MoM
Risk of Neural Tube Defect 15 Screen
positive Risk of Down syndrome 120000 Screen
negative
71
Screen positive NTD
  • Referred for detailed ultrasound
  • No evidence of NTD
  • Abdominal wall defect, most likely an omphalocele
    (vs gastroschisis)
  • Patient is completely blindsided
  • Well prepared to hear about spina bifida,
    prepared to make decisions if severe anomalies
  • Never heard of omphalocele

72
Fetal omphalocele
  • Abdominal wall defect, frequently associated with
    elevated maternal serum AFP
  • Most are isolated, some have multiple anomalies,
    potential for syndromic associations
  • Surgery in newborn period, potential
    complications
  • 30 risk of chromosomal abnormalities (mostly
    T21, T18 or T13)

Counselling implications unexpected findings
73
Abdominal Wall Defect Omphalocele
74
Fetal omphalocele
  • Most are isolated, some have multiple anomalies,
    potential for syndromic associations
  • Surgery in newborn period, potential
    complications
  • 30 risk of chromosomal abnormalities (mostly
    T21, T18 or T13)
  • Amniocentesis, 21 weeks of gestation
  • PI FISH is normal
  • Apparently isolated omphalocele, transfer to MFM
    for ongoing care

Karyotype mosaic trisomy 14 (23 weeks)
75
Prenatal Screening
  • A Few More Case Examples
  • Dont be too pessimistic
  • Ride the PND roller coaster
  • Screening for other conditions

76
MSS positive T18
Maternal Age at EDD 32 years Gestational Age
17w3d by u/s AFP 2.21 MoM uE3 MoM hCG 0.28 MoM
  • Screen Positive Risk of T18 18

77
  • Seen in PND 19w 6d. Ultrasound normal.
  • 32 yo G1.
  • Family history sisters son dry skin, needs
    moisturizer daily.
  • No other family history

78
Low uE3
  • Associated with Smith Lemli Opitz syndrome (SLOS)
  • Associated with X-linked ichthyosis steroid
    sulfatase (STS) deficiency
  • Associated with normal outcome

79
Amniocentesis
  • Normal male karyotype
  • FISH for STS probe microdeletion
  • 46,XY.ish del(X)(p22.3p22.3)(STS-)

Diagnosis Steroid sulfatase deficiency, X-linked
ichthyosis
80
Prenatal Screening Options
  • First Trimester Screening (FTS)
  • Maternal Serum Screening (MSS)
  • Integrated Prenatal Screening (IPS)

81
PRENATAL SCREENINGClinical Information Needed
  • Date of Birth for age related a priori risk
  • Gestation by LMP or by ultrasound
  • Maternal Weight marker levels decrease with
    increasing maternal weight, most important for
    AFP
  • Diabetic Status maternal IDDM increases risk of
    ONTD, MSAFP is lower in women with IDDM
  • Race Blacks have higher MSAFP and lower
    population prevalence of ONTD
  • Multiple Gestation AFP increases with number of
    babies serum screening for DS not available for
    multiples

82
PRENATAL SCREENINGGeneral Principles
  • Should be offered to all women
  • Originally designed for women for any age
  • Offers women options for further testing if
    positive
  • Reassurance if results negative does not
    guarantee healthy baby
  • All positives reported by phone or fax
  • Check dates if negative (MSS)

83
Canadian Guidelines for Prenatal
DiagnosisGenetic Indications for Prenatal
Diagnosis(CCMG / SOGC, 2001)
  • Screening for chromosomal anomalies based on
    biochemical markers should only be considered
    within a comprehensive screening and prenatal
    diagnosis program
  • including interpretation, education, and
    follow-up counselling.

84
Prenatal Screening for Fetal AneuploidySOGC
Practice Guideline(CCMG / SOGC, 2007)
  • Screening programs should show respect for the
    needs and quality of life of persons with
    disabilities.
  • Counselling should be nondirective and should
    respect a womans choice to accept or to refuse
    any or all of the testing or options offered at
    any point in the process.

85
Things to think about in deciding about testing
  • Understand that conditions such as Down syndrome
    or spina bifida are generally unrelated to family
    history all pregnancies have some risk.
  • Pregnant women can choose whether to learn if
    their own pregnancy is at increased risk compared
    to background.

86
Womens Perceptions
  • Does any woman believe herself to be at risk?
  • Family lore mothers and grandmothers had
    healthy babies in their 40s and they didnt have
    testing or screening options.
  • Prenatal screening as just one more blood test
    without really understanding that its about the
    health of the baby, and could lead to decisions
    about further testing.

87
Points to Consider..
  • What would it mean for you if your baby has Down
    syndrome? Would you rather know that before the
    baby is born?
  • What would it mean for you to find out during the
    pregnancy that the baby has a serious health
    problem? How would that be different if you find
    out after the baby is born?
  • If you choose to do testing, you accept the added
    risk of miscarriage with the procedure. How
    would you handle a miscarriage?

88
Reasons to Perform Prenatal Screening
  • In most cases, the news will be good and may
    reassure the patient.
  • Some patients may decide to terminate the
    pregnancy when faced with a significant
    abnormality.

89
Reasons to Perform Prenatal Screening
  • Anomaly detection may allow specialized antenatal
    or perinatal treatment in case of a lethal
    anomaly it might be reasonable to avoid a
    cesarean delivery for fetal distress.
  • The parents have time to prepare emotionally and
    financially. They can educate themselves and
    their family members about the anomaly other
    children may be prepared before the birth.

90
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